### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RP1) # 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}}" "RP1" "retinitis pigmentosa 1 (autosomal dominant)" "8" "q12.1" "unknown" "NG_009840.1" "UD_132119109049" "" "http://www.LOVD.nl/RP1" "" "1" "10263" "6101" "603937" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/RP1_NM_006269.1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-02-28 12:55:11" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018052" "RP1" "retinitis pigmentosa 1 (autosomal dominant)" "001" "NM_006269.1" "" "NP_006260.1" "" "" "" "-148" "6952" "6471" "55528627" "55543394" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "01541" "RP1" "retinitis pigmentosa, type 1 (RP1)" "AD;AR" "180100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-21 11:46:23" "03367" "OCMD" "dystrophy, macular, occult (OCMD)" "AD" "613587" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-11 14:43:46" "04209" "RPad" "retinitis pigmentosa, autosomal dominant (RPad)" "" "" "" "" "" "00006" "2015-02-27 18:53:37" "" "" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "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" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RP1" "01541" ## Individuals ## Do not remove or alter this header ## ## Count = 1181 "{{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}}" "00032862" "" "" "" "2" "" "00228" "{PMID:Chen 2010:19933189}" "also found in affected sister II.6, never both variants in unaffected family members suggesting autosmal recessive RP" "F" "" "China" "" "0" "" "" "" "" "00032863" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032864" "" "" "" "1" "" "00228" "{PMID:Khaliq 2005:15863674}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00032865" "" "" "" "2" "" "00228" "Khaliq 2005" "" "" "" "(Pakistan)" "" "0" "" "" "" "" "00032866" "" "" "" "1" "" "00228" "{PMID:Payne 2000:11095597}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00032867" "" "" "" "1" "" "00228" "{PMID:Jacobson 2000:10845615}" "" "" "" "United States" "" "0" "" "" "" "" "00032868" "" "" "" "7" "" "00228" "" "family, 7 affecteds" "" "" "Pakistan" "" "0" "" "" "" "" "00032869" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032870" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032871" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00032872" "" "" "" "7" "" "00228" "" "5-generation family, 7 affecteds (6F, 1M)" "" "" "United States" "" "0" "" "" "" "" "00032873" "" "" "" "8" "" "00228" "" "3-generation family, 8 affecteds (7F, M)" "" "" "United States" "" "0" "" "" "" "" "00032874" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032875" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032876" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00032877" "" "" "" "8" "" "00228" "" "3-generation family, 8 affecteds (4F, 4M)" "" "" "United States" "" "0" "" "" "" "" "00032878" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032879" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032880" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032881" "" "" "" "9" "" "00228" "" "5-generation family, 9 affecteds (3F, 6M)" "" "" "United States" "" "0" "" "" "" "" "00032882" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00032883" "" "" "" "3" "" "00228" "" "3-generation family, 3 affecteds (3F)" "F" "" "United States" "" "0" "" "" "" "" "00032884" "" "" "" "2" "" "00228" "" "2 families" "" "" "" "" "0" "" "" "" "" "00032885" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032886" "" "" "" "2" "" "00228" "" "2 affecteds" "" "" "" "" "0" "" "" "" "" "00032887" "" "" "" "5" "" "00228" "" "3-generation family, 5 affecteds (3F, 2M)" "" "" "United States" "" "0" "" "" "" "" "00032888" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032889" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032890" "" "" "" "2" "" "00228" "" "3-generation family, 2 affecteds (2M)" "M" "" "United States" "" "0" "" "" "" "" "00032891" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032892" "" "" "" "2" "" "00228" "" "3-generation family, 2 affecteds (2M)" "M" "" "United States" "" "0" "" "" "" "" "00032893" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032894" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032895" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032896" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032897" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032898" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032899" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032900" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032901" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032902" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032903" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032904" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032905" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032906" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032907" "" "" "" "1" "" "00228" "{PMID:Khaliq 2005:15863674}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00032908" "" "" "" "2" "" "00228" "" "two independent families" "" "" "" "" "0" "" "" "" "" "00032909" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032910" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032911" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032912" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032913" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032914" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032915" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032916" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032917" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032918" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032919" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032920" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032921" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032922" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032923" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032924" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032925" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032926" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032927" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032928" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00032929" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00032930" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032931" "" "" "" "3" "" "00228" "" "3 affecteds" "" "" "" "" "0" "" "" "" "" "00032932" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032933" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032934" "" "" "" "2" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032935" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032936" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032937" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032938" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032939" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032940" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00032941" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032942" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032943" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032944" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032945" "" "" "" "3" "" "00228" "" "family, 3 affecteds" "" "" "" "" "0" "" "" "" "" "00032946" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032947" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032948" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032949" "" "" "" "1" "" "00228" "" "" "" "" "United States" "" "0" "" "" "" "" "00032950" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032951" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032952" "" "" "" "2" "" "00228" "" "family, 2 affecteds" "" "" "" "" "0" "" "" "" "" "00032953" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032954" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032955" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032956" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032957" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032958" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032959" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032960" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032961" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032962" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032963" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032964" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032965" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032966" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032967" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032968" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032969" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032970" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032971" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032972" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032973" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032974" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032975" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032976" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032977" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032978" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032979" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032980" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032981" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032982" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032983" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032984" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00032985" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00032986" "" "" "" "1" "" "00228" "" "assymptomatic brother of CIC01234 (F745)" "" "" "France" "" "0" "" "" "" "" "00032987" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00032988" "" "" "" "1" "" "00228" "" "affected son CIC03164 and cousin CIC02630 non-carrier" "" "" "France" "" "0" "" "" "" "" "00032989" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00032990" "" "" "" "1" "" "00228" "" "affected sister CIC01529 (F1332)" "" "" "France" "" "0" "" "" "" "" "00032991" "" "" "" "1" "" "00228" "" "affected sister CIC01529 (F1332)" "" "" "France" "" "0" "" "" "" "" "00032992" "" "" "" "1" "" "00228" "" "affected father CIC01529 (F1332)" "" "" "France" "" "0" "" "" "" "" "00032993" "" "" "" "1" "" "00228" "" "asymptomatic daughter CIC00864 (F556)" "" "" "France" "" "0" "" "" "" "" "00032994" "" "" "" "1" "" "00228" "" "affected uncle CIC00864 (F556)" "" "" "France" "" "0" "" "" "" "" "00032995" "" "" "" "1" "" "00228" "" "affected father CIC00864 (F556)" "" "" "France" "" "0" "" "" "" "" "00032996" "" "" "" "1" "" "00228" "" "affected cousin CIC00864 (F556)" "" "" "France" "" "0" "" "" "" "" "00032997" "" "" "" "1" "" "00228" "" "affected cousin CIC00864 (F556)" "" "" "France" "" "0" "" "" "" "" "00032998" "" "" "" "1" "" "00228" "" "asymptomatic daughter CIC00864 (F556)" "" "" "France" "" "0" "" "" "" "" "00032999" "" "" "" "1" "" "00228" "" "affected cousin CIC00864 (F556)" "" "" "France" "" "0" "" "" "" "" "00033000" "" "" "" "1" "" "00228" "" "" "" "" "France" "" "0" "" "" "" "" "00033001" "" "" "" "1" "" "00228" "" "affected mother CIC01239 (F749)" "" "" "France" "" "0" "" "" "" "" "00033002" "" "" "" "1" "" "00228" "" "affected son CIC00009 (F8)" "" "" "France" "" "0" "" "" "" "" "00033003" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033004" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00033005" "" "" "" "1" "" "00228" "" "" "" "" "" "" "0" "" "" "" "" "00033006" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033007" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033008" "" "" "" "51" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033009" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033010" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033011" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033012" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033013" "" "" "" "3" "" "00228" "" "3-generation family, 3 affecteds (F, 2M)" "" "" "United States" "" "0" "" "" "" "" "00033014" "" "" "" "2" "" "00228" "" "father and son" "M" "" "United States" "" "0" "" "" "" "" "00033015" "" "" "" "2" "" "00228" "" "mother and daughter" "F" "" "United States" "" "0" "" "" "" "" "00033016" "" "" "" "6" "" "00228" "" "3-generation family, 6 affecteds (2F, 4M)" "" "" "United States" "" "0" "" "" "" "" "00033017" "" "" "" "2" "" "00228" "" "2-generation family, 2 affecteds (F, M)" "" "" "United States" "" "0" "" "" "" "" "00033018" "" "" "" "7" "" "00228" "" "5-generation family, 7 affecteds (2F, 5M)" "" "" "United States" "" "0" "" "" "" "" "00033019" "" "" "" "2" "" "00228" "" "3-generation family, 2 affecteds (F, M)" "" "" "United States" "" "0" "" "" "" "" "00033020" "" "" "" "3" "" "00228" "" "3-generation family, 3 affecteds (F, 2M)" "" "" "United States" "" "0" "" "" "" "" "00033021" "" "" "" "9" "" "00228" "" "3-generation family, 9 affecteds (3F, 6M)" "" "" "United States" "" "0" "" "" "" "" "00033022" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "white" "" "00033023" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033024" "" "" "" "4" "" "00006" "" "seen in 4 affecteds" "" "" "" "" "0" "" "" "" "" "00033025" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033026" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033027" "" "" "" "109" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033028" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033029" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033030" "" "" "" "128" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033031" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033032" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033033" "" "" "" "93" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033034" "" "" "" "13" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033035" "" "" "" "48" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033036" "" "" "" "38" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00033037" "" "" "" "1" "" "00006" "" "unaffected relative Rpad patient" "" "" "" "" "0" "" "" "" "" "00033098" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033099" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033102" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033103" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033138" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033167" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033169" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033339" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "yes" "" "" "0" "" "" "" "" "00033340" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "yes" "" "" "0" "" "" "" "" "00033341" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00033343" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "yes" "" "" "0" "" "" "" "" "00033360" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00033597" "" "" "" "1" "" "00142" "{PMID:Avila-Fernandez 2012:22917891}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "" "00033598" "" "" "" "1" "" "00142" "{PMID:Avila-Fernandez 2012:22917891}" "" "M" "" "Spain" "" "0" "" "" "Spain" "" "00033599" "" "" "" "1" "" "00142" "{PMID:Avila-Fernandez 2012:22917891}" "" "M" "" "Spain" "" "0" "" "" "Spain" "" "00033604" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00095922" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61006" "00095948" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61040" "00095950" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "?" "Pakistan" "" "0" "" "" "Pakistani" "61043" "00100076" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61113" "00100079" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61117" "00100091" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61157" "00100114" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61262" "00155543" "" "" "" "2" "" "01243" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "family" "F" "yes" "Israel" "" "0" "" "" "Yemenite;Jewish" "MOL0181" "00207439" "" "" "" "1" "" "01244" "" "" "M" "yes" "" "" "0" "" "" "" "" "00207601" "" "" "" "1" "" "01244" "" "" "M" "" "" "" "0" "" "" "" "" "00207602" "" "" "" "1" "" "01244" "" "" "M" "" "" "" "0" "" "" "" "" "00233051" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233052" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233053" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233054" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233055" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233056" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233057" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233058" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233059" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233060" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233061" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233062" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233063" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233064" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233065" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233066" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233067" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233068" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233069" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233070" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233071" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233072" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233073" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233074" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233075" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233076" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233077" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1200 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233078" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1200 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233079" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1200 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233080" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1199 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233081" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1200 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233082" "" "" "" "575" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1196 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233083" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1200 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233084" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1200 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233085" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233086" "" "" "" "78" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233087" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233088" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233089" "" "" "" "10" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233090" "" "" "" "211" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233091" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233092" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233093" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233094" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233095" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233096" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233097" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233098" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233099" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233100" "" "" "" "577" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233101" "" "" "" "577" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233102" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233103" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233104" "" "" "" "28" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233105" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233106" "" "" "" "15" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233107" "" "" "" "211" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233108" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233109" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233110" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233111" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1196 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233755" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233756" "" "" "" "200" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1196 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233757" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233758" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233759" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233760" "" "" "" "204" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233761" "" "" "" "204" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233762" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233763" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233764" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00240451" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00269939" "" "" "" "1" "" "01848" "{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}" "" "?" "" "Italy" "" "0" "" "" "" "Fam40P46" "00269940" "" "" "" "1" "" "01848" "{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}" "" "" "" "Italy" "" "0" "" "" "" "Fam7P9" "00294646" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294647" "" "" "" "103" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294648" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294649" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299640" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamGC18203Pat1" "00301672" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00305199" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307821" "" "" "" "4" "" "00006" "{PMID:Al-Bdour 2020:32587456}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Jordan" "" "0" "" "" "" "Fam1" "00307822" "" "" "" "2" "" "00006" "{PMID:Al-Bdour 2020:32587456}" "4-generation family, 2 affected brothers (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Jordan" "" "0" "" "" "" "Fam2" "00307823" "" "" "" "3" "" "00006" "{PMID:Al-Bdour 2020:32587456}" "5-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Jordan" "" "0" "" "" "" "Fam3" "00308413" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC01300" "00308551" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308552" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308642" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" "" "00308795" "" "" "" "3" "" "00006" "{PMID:Nikopoulos 2019:31253780}" "analysis 12,379 control individuals" "" "" "Japan" "" "0" "" "" "" "controls" "00308796" "" "" "" "142" "" "00006" "{PMID:Nikopoulos 2019:31253780}" "analysis 12,379 control individuals" "" "" "Japan" "" "0" "" "" "" "controls" "00308797" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "M15" "00308798" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "M9" "00308799" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "R(O)40" "00308800" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "R21" "00308801" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "221" "00308802" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "R(O)44" "00308803" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "OPH‐610" "00308804" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "OPH‐302" "00308805" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "Q‐116" "00308806" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "OPH‐179" "00308807" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "OPH‐285" "00308808" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "OPH‐419" "00308809" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "OPH‐424" "00308810" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "OPH‐733" "00308811" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "OPH‐794" "00308812" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "OPH‐812" "00308813" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "OPH‐814" "00308814" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "OPH‐884" "00308815" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "OPH‐967" "00308816" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "R170" "00308817" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "R204" "00308818" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "YWC101" "00308819" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "YWC102" "00308820" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "YWC107" "00308821" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "OPH‐553" "00308822" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "YWC100" "00308823" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "YWC193" "00308824" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "YWC6" "00308825" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "R(O)39" "00308826" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "R(O)48" "00308827" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "R(O)70" "00308828" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "RN36" "00308829" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "OPH‐635" "00308830" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "08_20" "00308831" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "201" "00308832" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "209" "00308833" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "C1" "00308834" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "M" "" "Japan" "" "0" "" "" "" "M5" "00308835" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "M7" "00308836" "" "" "" "1" "" "00004" "{PMID:Nikopoulos 2019:31253780}" "" "F" "" "Japan" "" "0" "" "" "" "OPH‐280" "00309372" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00309373" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309374" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309631" "" "" "" "4" "" "00006" "{PMID:Chen 2018:29843741}" "5-generation family, 4 affected (3F, M)" "F;M" "yes" "China" "" "0" "" "" "" "FamBPatII4/III3/III5/IV4" "00309819" "" "" "" "1" "" "00006" "{PMID:Bocquet 2013:24339724}" "2-generation family, 1 affected" "F" "yes" "France" "" "0" "" "" "" "RP854" "00309822" "" "" "" "1" "" "00006" "{PMID:Bocquet 2013:24339724}" "2-generation family, 1 affected" "F" "yes" "France" "" "0" "" "" "" "RP1625" "00325478" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3527" "00325488" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3583" "00326678" "" "" "" "2" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" "" "00326688" "" "" "" "1" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" "" "00326689" "" "" "" "1" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" "" "00326690" "" "" "" "1" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" "" "00326691" "" "" "" "1" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" "" "00327928" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240043" "00327934" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240058" "00328081" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G004998" "00328136" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005511" "00328156" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G006016" "00328157" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G006017" "00328172" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007287" "00328202" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007714" "00328210" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007727" "00328216" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007738" "00328258" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G009831" "00328262" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G009839" "00328265" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G009846" "00328302" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000179" "00328344" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000383" "00331284" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "family" "F" "" "Japan" "" "0" "" "" "" "Pat38" "00332204" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB275" "00332210" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB284" "00332211" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB44" "00332221" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB49" "00332491" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat16" "00332492" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat17" "00332493" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat18" "00333434" "" "" "00333432" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "M" "" "United States" "" "0" "" "" "" "FAM1-10295" "00333435" "" "" "00333432" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "M" "" "United States" "" "0" "" "" "" "FAM1-10347" "00333519" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "67" "00333520" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "68" "00333530" "" "" "" "4" "" "00000" "{PMID:Stone 2017:28559085}" "family, 4 affected" "F" "" "(United States)" "" "0" "" "" "" "199" "00333577" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "252" "00333578" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "M" "" "(United States)" "" "0" "" "" "" "253" "00333609" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "319" "00333610" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "320" "00333611" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "F" "" "(United States)" "" "0" "" "" "" "321" "00333646" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "497" "00333855" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "66" "00334432" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-008" "00334433" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-012" "00334434" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-096" "00334435" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-153" "00335150" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "9930" "00335151" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "9764" "00335152" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "1884" "00335153" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "yes" "Netherlands" "" "0" "" "" "" "9379" "00335282" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat10" "00335283" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat49" "00335310" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat107" "00335341" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat5" "00335387" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP037" "00335418" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP020" "00335555" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_013" "00335556" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_014" "00335557" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_015" "00335558" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_016" "00335559" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_017" "00335560" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_018" "00335561" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_019" "00335562" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_020" "00335563" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_021" "00335712" "" "" "" "4" "" "00008" "{PMID:Sullivan 2006:16799052}" "3 families" "" "" "United States" "" "0" "" "" "" "" "00335713" "" "" "" "20" "" "00008" "{PMID:Sullivan 2006:16799052}" "3 families" "" "" "United States" "" "0" "" "" "" "" "00335714" "" "" "" "2" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335715" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335716" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00358737" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358738" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358739" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358740" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358762" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam6PatII2" "00358772" "" "" "" "1" "" "00000" "{PMID:Fujinami 2016:27623337}" "" "M" "" "Japan" "" "0" "" "" "" "Fam15PatII2" "00358788" "" "" "" "1" "" "00000" "{PMID:Zhang 2016:27596865}" "family" "M" "" "United States" "" "0" "" "" "Hispanic" "BLM074" "00358932" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27391102}" "" "" "" "Switzerland" "" "0" "" "" "" "Case26165" "00358933" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27391102}" "" "" "" "Switzerland" "" "0" "" "" "" "Case25900" "00358958" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71471" "00358959" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71728" "00358960" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case28865" "00358961" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case24058" "00358964" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case72007" "00359105" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12013732" "00359108" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13015513" "00359119" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13004711" "00359145" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12002868" "00359152" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13004227" "00359191" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13001457" "00359203" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12011625" "00359213" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12010631" "00359218" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13007209" "00359223" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13017782" "00359320" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "27967" "00359321" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "31602" "00359322" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "31735" "00359375" "" "" "" "1" "" "00000" "{PMID:Bravo-Gil 2016:27032803}" "see paper" "" "" "Spain" "" "0" "" "" "" "82" "00362190" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Spain" "" "0" "" "" "" "RP-1772" "00362191" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Spain" "" "0" "" "" "" "RP-1988" "00362886" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ADRP1" "00362889" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ADRP236" "00363521" "" "" "" "2" "" "00000" "{PMID:Beheshtian 2015:26497376}" "4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "9200035/I-39380" "00363591" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00881" "00363592" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00920" "00363595" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01025" "00363675" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2524" "00363705" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG1405" "00363740" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG1132" "00363884" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00363885" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00372077" "" "" "" "1" "" "00000" "{PMID:Yoon 2015:26155838}" "family" "" "" "Korea" "" "0" "" "" "" "F03" "00372079" "" "" "" "1" "" "00000" "{PMID:Yoon 2015:26155838}" "family" "" "" "Korea" "" "0" "" "" "" "F06" "00372650" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP245" "00372651" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP382" "00372673" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "QT770" "00372676" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP233" "00372683" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP396" "00372698" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP372" "00372715" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP252" "00372716" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP255" "00372727" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP323" "00372732" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP069" "00372734" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP145" "00373371" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00373469" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP2072" "00373470" "" "" "" "6" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 6 affected" "" "" "Spain" "" "0" "" "" "" "RP1890" "00373471" "" "" "" "8" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 8 affected" "" "" "Spain" "" "0" "" "" "" "RP1387" "00373476" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP0948" "00373500" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "F" "" "China" "" "0" "" "" "" "RH15-PatII1" "00373811" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Spain" "" "0" "" "" "" "Pat8" "00373822" "" "" "" "5" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "4-generation family, 5 affected (4F, M), 4 RP/1 BBS" "F" "" "Spain" "" "0" "" "" "" "FamRP368PatIII8" "00373823" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "3-generation family, 1 affected" "F" "yes" "Spain" "" "0" "" "" "" "Fam?" "00373824" "" "" "00373822" "1" "" "00006" "{PMID:Méndez-Vidal 2014:25494902}" "" "F" "" "Spain" "" "0" "" "" "" "FamRP368PatIV2" "00373836" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp244" "00374899" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "yes" "China" "" "0" "" "" "" "W119-1" "00374905" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W177-1" "00374907" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "yes" "China" "" "0" "" "" "" "W106-1" "00375307" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K1862" "00375308" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6471" "00375340" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6115" "00375412" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#003" "00375415" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#007" "00375422" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#015" "00375435" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#030" "00375446" "" "" "" "1" "" "00000" "{PMID:Watson 2014:25133751}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatC" "00375452" "" "" "" "3" "" "00000" "{PMID:Pan 2014:24940031}" "2-generation family, 3 affected (F, 2M)" "" "" "China" "" "0" "" "" "" "Fam05" "00376765" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "27" "00376767" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "29" "00376780" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "46" "00376781" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "47" "00377234" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "341" "00377271" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "416" "00377469" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377470" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377471" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377472" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377473" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377474" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377475" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377476" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377477" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377478" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377479" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377732" "" "" "" "1" "" "00000" "{PMID:Bowne 2011:20861475}" "Positive Control Sample" "" "no" "" "" "0" "" "" "" "" "00378032" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0018" "00378062" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0041" "00379396" "" "" "" "1" "" "00000" "{PMID:Collin-2011:21217109}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00379399" "" "" "" "1" "" "00000" "{PMID:Simpson-2011:21147909}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379540" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0063" "00379541" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0066" "00379555" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379611" "" "" "" "1" "" "00000" "{PMID:Blanco-Kelly-2012:22736939}" "" "" "" "Spain" "" "0" "" "" "spanish" "" "00379612" "" "" "" "1" "" "00000" "{PMID:Blanco-Kelly-2012:22736939}" "" "" "" "Spain" "" "0" "" "" "spanish" "" "00379613" "" "" "" "1" "" "00000" "{PMID:Blanco-Kelly-2012:22736939}" "" "" "" "Spain" "" "0" "" "" "spanish" "" "00379640" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0021" "00379654" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0037" "00379681" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0072" "00379682" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0073" "00379687" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0081" "00379876" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016081701" "00379877" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016082411" "00379878" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016111405" "00380094" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0156" "00380151" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0191" "00380156" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_BDC_0002" "00380157" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_BDC_0003" "00380163" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_BDC_0011" "00380200" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP30, II:1" "?" "no" "Spain" "" "0" "" "" "" "II:1" "00380202" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP35, II:2" "?" "no" "Spain" "" "0" "" "" "" "II:2" "00380256" "" "" "" "1" "" "00000" "{PMID:Kim-2012:23049240}" "" "M" "" "China" "" "0" "" "" "" "" "00380262" "" "" "" "1" "" "00000" "{PMID:Kim-2012:23049240}" "" "" "" "China" "" "0" "" "" "" "" "00380320" "" "" "" "3" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380321" "" "" "" "5" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "# affected:5 (3)" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380322" "" "" "" "3" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380323" "" "" "" "3" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380324" "" "" "" "7" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "# affected:7 (3)" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380325" "" "" "" "3" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380326" "" "" "" "7" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "# affected:7 (4)" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380375" "" "" "" "1" "" "00000" "{PMID:Bocquet-2013:23350551}" "" "" "yes" "France" "" "0" "" "" "" "" "00380379" "" "" "" "1" "" "00000" "{PMID:Bocquet-2013:23350551}" "" "" "yes" "France" "" "0" "" "" "" "" "00380915" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2018:29912909}" "family RP-1772" "F" "no" "Spain" "" "0" "" "" "" "RP-1772" "00380917" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2018:29912909}" "family RP-0551" "M" "no" "Spain" "" "0" "" "" "" "RP-0551" "00381045" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "" "" "China" "" "0" "" "" "Chinese" "" "00381175" "" "" "" "1" "" "00008" "{PMID:Neveling-2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00381608" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" "" "00381609" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Iran" "" "0" "" "" "" "" "00381610" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Iran" "" "0" "" "" "" "" "00381611" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00381616" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "yes" "Iran" "" "0" "" "" "" "" "00381627" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00381648" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Saudi Arabia" "" "0" "" "" "" "" "00381652" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00381657" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00381671" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "?" "Saudi Arabia" "" "0" "" "" "" "" "00381690" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00381759" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381760" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381761" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381762" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381763" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381764" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381765" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381766" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381797" "" "" "" "1" "" "00000" "{PMID:Corton-2013:23940504}" "" "" "no" "" "" "0" "" "" "Spanish" "P-1601" "00381798" "" "" "" "1" "" "00000" "{PMID:Corton-2013:23940504}" "" "" "no" "" "" "0" "" "" "Spanish" "P-2343" "00381800" "" "" "" "10" "" "00000" "{PMID:Ma-2013:23991373}" "" "" "" "China" "" "0" "" "" "chinese" "" "00381801" "" "" "" "1" "" "00000" "{PMID:Ma-2013:23991373}" "" "" "" "China" "" "0" "" "" "chinese" "" "00381802" "" "" "" "10" "" "00000" "{PMID:Ma-2013:23991373}" "" "" "" "China" "" "0" "" "" "chinese" "" "00381803" "" "" "" "10" "" "00000" "{PMID:Ma-2013:23991373}" "" "" "" "China" "" "0" "" "" "chinese" "" "00381804" "" "" "" "10" "" "00000" "{PMID:Ma-2013:23991373}" "" "" "" "China" "" "0" "" "" "chinese" "" "00381810" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" "" "00381888" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "38" "00382195" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "1" "00382196" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "2" "00382197" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "3" "00382198" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "4" "00382199" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "5" "00382200" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "6" "00382201" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "7" "00382202" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "8" "00382203" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "9" "00382204" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10" "00382205" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11" "00382206" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "12" "00382207" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13" "00382208" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14" "00382209" "" "" "" "1" "" "00000" "{PMID:Nanda 2019:30731082}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15" "00382218" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "47" "00382401" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "230" "00382402" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "231" "00382403" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "232" "00382404" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "233" "00382405" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "234" "00382406" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "235" "00382407" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "236" "00382408" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "237" "00382409" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "238" "00382410" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "239" "00382411" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "240" "00382412" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "241" "00382413" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "242" "00382414" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "243" "00382417" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "246" "00382594" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "456" "00382595" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "457" "00382596" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "458" "00382597" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "459" "00382598" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "460" "00383488" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00383690" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-1740" "00383823" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00383824" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00383825" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00383921" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0435" "00383925" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0551" "00383955" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0990" "00383965" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1061" "00383986" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1376" "00383998" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1537" "00384006" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1610" "00384040" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1859" "00384044" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1896" "00384081" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2157" "00384084" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2165" "00384088" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2198" "00384092" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2224" "00384141" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2619" "00384155" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2745" "00384157" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2764" "00384197" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066859" "00384213" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066885" "00384249" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13159" "00384268" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13304" "00384325" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13685" "00384501" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14948" "00384572" "" "" "" "1" "" "00000" "{PMID:Albarry 2019:31833436}" "Family 1, individual V:1" "M" "" "Saudi Arabia" "" "0" "" "" "" "1_V:1" "00384573" "" "" "" "1" "" "00000" "{PMID:Albarry 2019:31833436}" "Family 1, individual V:2" "F" "" "Saudi Arabia" "" "0" "" "" "" "1_V:2" "00385050" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19862" "00385415" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "M" "" "Taiwan" "" "0" "" "" "" "F26-IV-3" "00385737" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "F" "no" "China" "" "0" "" "" "" "157" "00386175" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-131, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-288" "00386226" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-404" "00386551" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-106" "00386553" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-119" "00386722" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2857_004442" "00386749" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2894_004479" "00386765" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2914_004499" "00386804" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2961_004546" "00386845" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI680_001363" "00386859" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI785_001529" "00387017" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "43" "00387018" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "44" "00387019" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Asian" "45" "00387020" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "46" "00387021" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "47" "00387022" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "48" "00387023" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "African American" "49" "00387024" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "50" "00387025" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "51" "00387026" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Asian" "52" "00387027" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "53" "00387028" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "54" "00387075" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Hispanic" "101" "00387386" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "M" "" "China" "" "0" "" "" "" "6" "00387393" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "F" "" "China" "" "0" "" "" "" "13" "00387394" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "M" "" "China" "" "0" "" "" "" "14" "00387631" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "16" "00388050" "" "" "" "1" "" "00000" "{PMID:D\'Angelo 2017:28290600}" "Proband" "M" "" "Italy" "" "0" "" "" "" "" "00388051" "" "" "" "1" "" "00000" "{PMID:D\'Angelo 2017:28290600}" "Wife of P1" "F" "" "Italy" "" "0" "" "" "" "" "00388052" "" "" "" "1" "" "00000" "{PMID:D\'Angelo 2017:28290600}" "Daugther of P1 and P2" "F" "" "Italy" "" "0" "" "" "" "" "00388282" "" "" "" "1" "" "00000" "{PMID:Nadeem 2020:32411380}" "Family PKRP388" "F" "yes" "Pakistan" "" "0" "" "" "" "6" "00388283" "" "" "" "1" "" "00000" "{PMID:Nadeem 2020:32411380}" "Family PKRP388" "F" "yes" "Pakistan" "" "0" "" "" "" "14" "00388284" "" "" "" "1" "" "00000" "{PMID:Nadeem 2020:32411380}" "Family PKRP388" "F" "yes" "Pakistan" "" "0" "" "" "" "10" "00388285" "" "" "" "1" "" "00000" "{PMID:Nadeem 2020:32411380}" "Family PKRP388" "M" "yes" "Pakistan" "" "0" "" "" "" "11" "00388543" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.004" "00388563" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.031" "00388848" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 58, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "132" "00388849" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 58, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "133" "00388865" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 63, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "149" "00389305" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 212, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "589" "00389376" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 236, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "660" "00389377" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 236, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "661" "00389378" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 236, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "662" "00389379" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 236, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "663" "00389585" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 360, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "869" "00389586" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 360, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "870" "00389587" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 360, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "871" "00389657" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 412, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "941" "00389676" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 429, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "960" "00389692" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 438, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "976" "00389709" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 457, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "993" "00389754" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 604, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1038" "00389788" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 695, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1072" "00389840" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 767, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1124" "00389902" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 872, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1186" "00389903" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 875, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1187" "00389937" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 961, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1221" "00389989" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1090, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1273" "00390045" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1506" "00390371" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004998" "00390372" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005511" "00390373" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G006016" "00390374" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G006017" "00390375" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007287" "00390376" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007714" "00390377" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007727" "00390378" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007738" "00390379" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008911" "00390380" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009831" "00390381" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009839" "00390382" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009846" "00390383" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000179" "00390384" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000383" "00390475" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001430" "00390761" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390789" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390894" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390937" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390944" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00391225" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "F" "" "Japan" "" "0" "" "" "" "N-1201" "00391237" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "N-250" "00391247" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "F" "" "Japan" "" "0" "" "" "" "N-39" "00391250" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "F" "" "Japan" "" "0" "" "" "" "NA0048" "00391251" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "F" "" "Japan" "" "0" "" "" "" "NA0070" "00391252" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "NA0209" "00391253" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "NA1048" "00391254" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "F" "" "Japan" "" "0" "" "" "" "NAl209" "00391256" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "OPH-159" "00391258" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "F" "" "Japan" "" "0" "" "" "" "OPH-182" "00391261" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "OPH-222" "00391269" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "F" "" "Japan" "" "0" "" "" "" "OPH-458" "00391283" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "OPH-791" "00391351" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "7" "00391352" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "8" "00391353" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "9" "00392141" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-169, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-336" "00392166" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-169, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-336" "00392328" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "191212" "00392329" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "191239" "00392334" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "191346" "00392335" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "191352" "00392346" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "191525" "00392355" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "19410" "00392365" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19545" "00392391" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "19961" "00392574" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "20" "00392586" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "41" "00392590" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "46" "00392611" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "74" "00392625" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "98" "00392668" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "161" "00392673" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "168" "00392676" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "171" "00393453" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393516" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "yes" "" "" "0" "" "" "" "" "00393651" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393652" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393709" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393783" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393803" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393844" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393901" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393906" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00394334" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "RP16" "00394523" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394524" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394525" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394526" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394527" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394528" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394529" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394530" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394531" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394532" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394533" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394534" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394535" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394627" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394628" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394629" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "yes" "" "" "0" "" "" "" "" "00394630" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394631" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394632" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00395895" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F019" "00395896" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F175" "00395897" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F291" "00395941" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F221" "00395968" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 3650, genetic ID: 2322" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P14" "00395969" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 21079, genetic ID: 32583" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P15" "00395970" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 18591, genetic ID: 28719" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P16" "00396468" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "1" "00396528" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396531" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396533" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396538" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396568" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396620" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396633" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00404110" "" "" "" "3" "" "00006" "{PMID:Aldahmesh 2009:19956407}" "2-generation family, 3 affected brothers" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "DGU-F1" "00404111" "" "" "" "4" "" "00006" "{PMID:Aldahmesh 2009:19956407}" "2-generation family, 4 affected (3F, M)" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "DGU-F2" "00412222" "" "" "" "1" "" "00000" "{PMID:deSousa Dias 2015:26321861}" "" "?" "" "Spain" "" "0" "" "" "" "RPN235" "00412736" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "F" "yes" "United States" "" "0" "" "" "" "V-1" "00412737" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "F" "yes" "United States" "" "0" "" "" "" "V-10" "00412738" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01, index patient" "F" "yes" "United States" "" "0" "" "" "" "VI-11" "00412739" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "M" "yes" "United States" "" "0" "" "" "" "VI-12" "00412740" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "M" "yes" "United States" "" "0" "" "" "" "VI-13" "00412741" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "M" "yes" "United States" "" "0" "" "" "" "VI-16" "00412742" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "M" "yes" "United States" "" "0" "" "" "" "VI-19" "00412743" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "F" "yes" "United States" "" "0" "" "" "" "VI-21" "00412744" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "M" "yes" "United States" "" "0" "" "" "" "VI-23" "00412745" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "M" "yes" "United States" "" "0" "" "" "" "VI-24" "00412746" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "F" "yes" "United States" "" "0" "" "" "" "VI-25" "00412747" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family RP01" "M" "yes" "United States" "" "0" "" "" "" "VI-26" "00412748" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "6812" "00412749" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "6159" "00412750" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "6727" "00412751" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "6021" "00412752" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "6254" "00412753" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "F357" "00412754" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "D744" "00412755" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "6267" "00412756" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "6072" "00412757" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "single index patient" "?" "" "" "" "0" "" "" "American or Canadian" "6161" "00412758" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 2480" "F" "" "" "" "0" "" "" "American or Canadian" "II-1" "00412759" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 7050, proband" "M" "" "" "" "0" "" "" "American or Canadian" "II-2" "00412760" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 7050, proband\'s sister" "F" "" "" "" "0" "" "" "American or Canadian" "II-1" "00412761" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 7050, proband\'s father" "M" "" "" "" "0" "" "" "American or Canadian" "II-3" "00412762" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 6886, proband" "F" "" "" "" "0" "" "" "American or Canadian" "II-3" "00412763" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 6886, proband\'s mother" "F" "" "" "" "0" "" "" "American or Canadian" "I-2" "00412764" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 6886, proband\'s son" "M" "" "" "" "0" "" "" "American or Canadian" "III-1" "00412765" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 6886, proband\'s daughter 1" "F" "" "" "" "0" "" "" "American or Canadian" "III-2" "00412766" "" "" "" "1" "" "00000" "{PMID:Pierce 1999:10390211}" "Family of index patient 6886, proband\'s daughter 2" "F" "" "" "" "0" "" "" "American or Canadian" "III-3" "00412767" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412768" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412769" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412770" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412771" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412772" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412773" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412774" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412775" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412776" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412777" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412778" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412779" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412780" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412781" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412782" "" "" "" "1" "" "00000" "{PMID:Guillonneau 1999:10401003}" "RP1 family" "?" "" "United States" "" "0" "" "" "" "?" "00412784" "" "" "" "1" "" "00000" "{PMID:Liu 2003:14507858}" "cell line and mice experiments, lymphoblasts from members of the RP01 pedigree with the Arg677Ter mutation in the RP1 gene" "?" "" "" "" "0" "" "" "" "?" "00412785" "" "" "" "1" "" "00000" "{PMID:Zhang 2002:12048676}" "abstract only" "?" "" "China" "" "0" "" "" "" "?" "00412786" "" "" "" "1" "" "00000" "{PMID:Zhang 2002:12048676}" "abstract only" "?" "" "China" "" "0" "" "" "" "?" "00412791" "" "" "" "1" "" "00000" "{PMID:Schwartz 2003:12882812}" "" "M" "" "United States" "" "0" "" "" "" "II:1" "00412798" "" "" "" "1" "" "00000" "{PMID:Chiang 2006:15933747}" "no patient IDs" "?" "" "China" "" "0" "" "" "" "?" "00412799" "" "" "" "1" "" "00000" "{PMID:Chiang 2006:15933747}" "no patient IDs" "?" "" "China" "" "0" "" "" "" "?" "00412800" "" "" "" "1" "" "00000" "{PMID:Chiang 2006:15933747}" "no patient IDs" "?" "" "China" "" "0" "" "" "" "?" "00412801" "" "" "" "1" "" "00000" "{PMID:Chiang 2006:15933747}" "no patient IDs" "?" "" "China" "" "0" "" "" "" "?" "00412802" "" "" "" "1" "" "00000" "{PMID:Chiang 2006:15933747}" "no patient IDs" "?" "" "China" "" "0" "" "" "" "?" "00412803" "" "" "" "1" "" "00000" "{PMID:Chiang 2006:15933747}" "no patient IDs; mother family D984G" "F" "" "China" "" "0" "" "" "" "?" "00412804" "" "" "" "1" "" "00000" "{PMID:Chiang 2006:15933747}" "no patient IDs; son family D984G" "M" "" "China" "" "0" "" "" "" "?" "00412805" "" "" "" "1" "" "00000" "{PMID:Chiang 2006:15933747}" "no patient IDs" "?" "" "China" "" "0" "" "" "" "?" "00412806" "" "" "" "1" "" "00000" "{PMID:Sheng 2008:18347624}" "proband" "M" "" "China" "" "0" "" "" "Chinese" "I-2" "00412807" "" "" "" "1" "" "00000" "{PMID:Sheng 2008:18347624}" "proband\'s daughter" "F" "" "China" "" "0" "" "" "Chinese" "II-2" "00412808" "" "" "" "1" "" "00000" "{PMID:Sheng 2008:18347624}" "proband\'s daughter\'s daughter 1" "F" "" "China" "" "0" "" "" "Chinese" "III-2" "00412809" "" "" "" "1" "" "00000" "{PMID:Sheng 2008:18347624}" "proband\'s daughter\'s daughter 3" "F" "" "China" "" "0" "" "" "Chinese" "III-5" "00412810" "" "" "" "1" "" "00000" "{PMID:Sheng 2008:18347624}" "proband\'s daughter\'s daughter 4" "F" "" "China" "" "0" "" "" "Chinese" "III-7" "00412811" "" "" "" "1" "" "00000" "{PMID:Sheng 2008:18347624}" "proband\'s half-sister\'s daughter" "F" "" "China" "" "0" "" "" "Chinese" "III-9" "00412812" "" "" "" "1" "" "00000" "{PMID:Sheng 2008:18347624}" "proband\'s great granddaughter" "F" "" "China" "" "0" "" "" "Chinese" "IV-1" "00412813" "" "" "" "1" "" "00000" "{PMID:Sheng 2008:18347624}" "proband\'s great grandson" "M" "" "China" "" "0" "" "" "Chinese" "IV-2" "00412814" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412815" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "F" "" "China" "" "0" "" "" "Chinese" "?" "00412816" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412817" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412818" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412819" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412820" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412821" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "F" "" "China" "" "0" "" "" "Chinese" "?" "00412822" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "F" "" "China" "" "0" "" "" "Chinese" "?" "00412823" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412824" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412825" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412826" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412827" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412828" "" "" "" "1" "" "00000" "{PMID:Zhang 2010:20664799}" "no patient IDs" "" "" "China" "" "0" "" "" "Chinese" "?" "00412830" "" "" "" "1" "" "00000" "{PMID:Mukhopadhyay 2011:21746989}" "proband; 4-generation pedigree - the variant is said to be segregating, but no indication who was tested within the family" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "IV:4" "00412831" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F28, proband" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "IV:2" "00412832" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F28, proband\'s sister 3" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "IV:3" "00412833" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F28, proband\'s brother 2" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "IV:4" "00412834" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F28, proband\'s sister 2" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "IV:5" "00412835" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-DF01, proband\'s brother 1" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "II:1" "00412836" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-DF01, proband\'s brother 2" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "II:2" "00412837" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-DF01, proband" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "II:4" "00412838" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F43, proband" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "IV:2" "00412839" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F43, proband\'s brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "IV:3" "00412840" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F43, proband\'s maternal grandfather" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "II:5" "00412841" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F43, proband\'s maternal grandfather\'s brother\'s daughter" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "III:1" "00412842" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F84, proband (error in individual marking, probably III:1, because it does not match the pedigree)" "?" "yes" "Saudi Arabia" "" "0" "" "" "" "II:1" "00412843" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F84" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "III:2" "00412844" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F84" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "IV:1" "00412845" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F84" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "IV:3" "00412846" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F101, proband" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "II:8" "00412847" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F101, proband\'s sister 1" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "II:9" "00412848" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F101, proband\'s brother 2" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "II:10" "00412849" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family arRP-F101, proband\'s sister 8" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "II:12" "00412850" "" "" "" "1" "" "00000" "{PMID:Al Rashed 2012:22317909}" "family sRP-19, proband" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "II:1" "00412852" "" "" "" "1" "" "00000" "Lafont 2011" "family RP94, proband" "M" "yes" "France" "" "0" "" "" "" "II:2" "00412853" "" "" "" "1" "" "00000" "Lafont 2011" "family RP94, proband\'s brother 3" "M" "yes" "France" "" "0" "" "" "" "II:4" "00412854" "" "" "" "1" "" "00000" "Lafont 2011" "family RP94, proband\'s sister 1" "F" "yes" "France" "" "0" "" "" "" "II:5" "00412855" "" "" "" "1" "" "00000" "Lafont 2011" "family RP494, proband" "M" "" "France" "" "0" "" "" "" "II:1" "00412856" "" "" "" "1" "" "00000" "Lafont 2011" "family PHRC135, proband" "M" "" "France" "" "0" "" "" "" "II:2" "00412857" "" "" "" "1" "" "00000" "Lafont 2011" "family RP206, proband" "F" "" "France" "" "0" "" "" "" "III:1" "00412858" "" "" "" "1" "" "00000" "Lafont 2011" "family PHRC116, proband" "F" "" "France" "" "0" "" "" "" "III:2" "00412859" "" "" "" "1" "" "00000" "Lafont 2011" "family RP785, proband" "M" "" "France" "" "0" "" "" "" "II:3" "00412860" "" "" "" "1" "" "00000" "Lafont 2011" "family RP785, proband\'s half sister" "F" "" "France" "" "0" "" "" "" "II:1" "00412861" "" "" "" "1" "" "00000" "Lafont 2011" "family RP785, proband\'s brother" "M" "" "France" "" "0" "" "" "" "II:4" "00412862" "" "" "" "1" "" "00000" "Lafont 2011" "family RP785, proband\'s daughter" "F" "" "France" "" "0" "" "" "" "III:1" "00412863" "" "" "" "1" "" "00000" "Lafont 2011" "family RP785, proband\'s brother\'s son" "M" "" "France" "" "0" "" "" "" "III:6" "00412864" "" "" "" "1" "" "00000" "Lafont 2011" "family RP785, proband\'s brother\'s son\'s daughter" "F" "" "France" "" "0" "" "" "" "IV:2" "00412865" "" "" "" "1" "" "00000" "Lafont 2011" "family RP215, proband" "F" "" "France" "" "0" "" "" "" "II:4" "00412866" "" "" "" "1" "" "00000" "Lafont 2011" "family RP215, proband\'s paternal uncle\'s son" "M" "" "France" "" "0" "" "" "" "II:1" "00412867" "" "" "" "1" "" "00000" "Lafont 2011" "family RP215, proband\'s brother" "M" "" "France" "" "0" "" "" "" "II:3" "00412868" "" "" "" "1" "" "00000" "Lafont 2011" "family RP215, proband\'s father\'s unaffected brother" "M" "" "France" "" "0" "" "" "" "I:3" "00412869" "" "" "" "1" "" "00000" "Lafont 2011" "family RP215, proband\'s paternal uncle\'s grandson" "M" "" "France" "" "0" "" "" "" "III:3" "00412870" "" "" "" "1" "" "00000" "Lafont 2011" "family RP215, proband\'s brother\'s daughter" "F" "" "France" "" "0" "" "" "" "III:4" "00412871" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband" "M" "" "France" "" "0" "" "" "" "V:1" "00412872" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s 2nd loop 3rd degree aunt and uncle\'s mother" "F" "" "France" "" "0" "" "" "" "III:3" "00412873" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s 3rd degree aunt, 1st loop" "F" "" "France" "" "0" "" "" "" "IV:1" "00412874" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s 3rd degree uncle, 2nd loop" "M" "" "France" "" "0" "" "" "" "IV:3" "00412875" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s 3rd degree aunt, 2nd loop" "F" "" "France" "" "0" "" "" "" "IV:4" "00412876" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s unaffected sister" "F" "" "France" "" "0" "" "" "" "V:4" "00412877" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s son" "M" "" "France" "" "0" "" "" "" "VI:1" "00412878" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s daughter" "F" "" "France" "" "0" "" "" "" "VI:2" "00412879" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s unaffected sister\'s daughter" "F" "" "France" "" "0" "" "" "" "VI:3" "00412880" "" "" "" "1" "" "00000" "Lafont 2011" "family RP263, proband\'s daughter\'s daughter" "F" "" "France" "" "0" "" "" "" "VII:2" "00412881" "" "" "" "1" "" "00000" "Lafont 2011" "family RP287, proband" "F" "" "France" "" "0" "" "" "" "I:2" "00412882" "" "" "" "1" "" "00000" "Lafont 2011" "family RP287, proband\'s daughter" "F" "" "France" "" "0" "" "" "" "II:1" "00412883" "" "" "" "1" "" "00000" "Lafont 2011" "family PHRC115, proband" "M" "" "France" "" "0" "" "" "" "III:1" "00412884" "" "" "" "1" "" "00000" "Lafont 2011" "family PHRC132, proband" "F" "" "France" "" "0" "" "" "" "III:1" "00412885" "" "" "" "1" "" "00000" "{PMID:Siemiatkowska 2012:23077400}" "Indonesian family, proband" "F" "yes" "Indonesia" "" "0" "" "" "Indonesian" "II:4" "00412886" "" "" "" "1" "" "00000" "{PMID:Siemiatkowska 2012:23077400}" "Indonesian family, proband\'s sister 2" "F" "yes" "Indonesia" "" "0" "" "" "Indonesian" "II:6" "00412887" "" "" "" "1" "" "00000" "{PMID:Siemiatkowska 2012:23077400}" "Indonesian family, proband\'s sister 3" "F" "yes" "Indonesia" "" "0" "" "" "Indonesian" "II:7" "00412894" "" "" "" "1" "" "00000" "{PMID:El Shamieh 2015:25692139}" "no other affected family member, from France" "F" "" "France" "" "0" "" "" "French" "FamF303patII.1" "00412895" "" "" "" "1" "" "00000" "{PMID:El Shamieh 2015:25692139}" "two other brothers affected; parents first cousins" "M" "yes" "France" "" "0" "" "" "" "FamF335patIII.1" "00412896" "" "" "" "1" "" "00000" "{PMID:El Shamieh 2015:25692139}" "parents first cousins from Turkey, one female and male cousins affected also from a consanguineous union" "F" "yes" "France" "" "0" "" "" "Turkish" "FamF674patIII.6" "00412897" "" "" "" "1" "" "00000" "{PMID:El Shamieh 2015:25692139}" "two sisters affected" "F" "" "France" "" "0" "" "" "" "FamF752patII.1" "00412898" "" "" "" "1" "" "00000" "{PMID:El Shamieh 2015:25692139}" "parents from Algeria, first cousins" "M" "yes" "France" "" "0" "" "" "Algerian" "FamF782patII.5" "00412899" "" "" "" "1" "" "00000" "{PMID:El Shamieh 2015:25692139}" "parents from Algeria, first cousins" "F" "yes" "France" "" "0" "" "" "Algerian" "FamF1941patIII.1" "00412900" "" "" "" "1" "" "00000" "{PMID:El Shamieh 2015:25692139}" "one cousin on mother side may have rod-cone dystrophy" "F" "" "France" "" "0" "" "" "" "FamF3110patIII.5" "00412903" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Saudi Arabia" "" "0" "" "" "" "F28/IV:2" "00412904" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Saudi Arabia" "" "0" "" "" "" "DF01/II:4" "00412905" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Saudi Arabia" "" "0" "" "" "" "F43/IV:2" "00412906" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Saudi Arabia" "" "0" "" "" "" "F101/II:8" "00412907" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Morocco" "" "0" "" "" "" "RP-94/1" "00412908" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Morocco" "" "0" "" "" "" "RP-94/2" "00412909" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Morocco" "" "0" "" "" "" "RP-94/3" "00412910" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Morocco" "" "0" "" "" "" "RP-494/1" "00412911" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "France" "" "0" "" "" "" "RP-854/1" "00412912" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "France" "" "0" "" "" "" "RP-1625/1" "00412913" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0137/II:1" "00412914" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0137/II:2" "00412915" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0235/II:1" "00412916" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0056/II:2" "00412917" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0435/II:2" "00412918" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0551/II:1" "00412919" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0880/II:1" "00412920" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0880/II:2" "00412921" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1061/II:1" "00412922" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1537/II:1" "00412923" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1610/II:1" "00412924" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Pakistan" "" "0" "" "" "" "61043/13" "00412925" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Pakistan" "" "0" "" "" "" "61043/14" "00412926" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Pakistan" "" "0" "" "" "" "61043/16" "00412927" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Netherlands" "" "0" "" "" "" "25846/1" "00412928" "" "" "" "1" "" "00000" "{PMID:Chassine 2015:25883087}" "" "?" "" "Netherlands" "" "0" "" "" "" "21933/1" "00412930" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "8" "00412931" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "10" "00412932" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "16" "00412933" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "17" "00412934" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "18" "00412935" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "21" "00412936" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "22" "00412937" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "23" "00412938" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP117" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "24" "00412939" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP262" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "8" "00412940" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP262" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "9" "00412941" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP262" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "12" "00412942" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP344" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "7" "00412943" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP344" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "8" "00412944" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP344" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "10" "00412945" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP344" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "12" "00412946" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP358" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "11" "00412947" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP358" "F" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "15" "00412948" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP358" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "16" "00412949" "" "" "" "1" "" "00000" "{PMID:Kabir 2016:27307693}" "family PKRP358" "M" "" "Pakistan" "" "0" "" "" "Punjab Pakistani" "17" "00412952" "" "" "" "1" "" "00000" "{PMID:Li 2018:29425069}" "family ARRP-59" "M" "" "China" "" "0" "" "" "Chinese" "59" "00412953" "" "" "" "1" "" "00000" "{PMID:Li 2018:29425069}" "family ARRP-86" "M" "" "China" "" "0" "" "" "Chinese" "86" "00412954" "" "" "" "1" "" "00000" "{PMID:Li 2018:29425069}" "family ARRP-86" "F" "" "China" "" "0" "" "" "Chinese" "87" "00412955" "" "" "" "1" "" "00000" "{PMID:Li 2018:29425069}" "family ARRP-93" "M" "" "China" "" "0" "" "" "Chinese" "93" "00412956" "" "" "" "1" "" "00000" "{PMID:Li 2018:29425069}" "isolated patient 101" "?" "" "China" "" "0" "" "" "Chinese" "101" "00412957" "" "" "" "1" "" "00000" "{PMID:Li 2018:29425069}" "isolated patient 102" "?" "" "China" "" "0" "" "" "Chinese" "102" "00412959" "" "" "" "1" "" "00000" "{PMID:Kurata 2018:30027431}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "?" "00412960" "" "" "" "1" "" "00000" "{PMID:Starosta 2019:30897647}" "" "M" "" "Germany" "" "0" "" "" "" "?" "00412966" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family A, proband" "F" "" "" "" "0" "" "" "white" "A-II:2" "00412967" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family A, proband\'s brother" "M" "" "" "" "0" "" "" "white" "A-II:4" "00412968" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family A, proband\'s sister 2" "F" "" "" "" "0" "" "" "white" "A-II:5" "00412969" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family B, proband\'s sister 1" "F" "" "" "" "0" "" "" "white" "B-II:3" "00412970" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family B, proband" "F" "" "" "" "0" "" "" "white" "B-II:8" "00412971" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family G, proband" "F" "" "" "" "0" "" "" "East Asian" "G-II:2" "00412972" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family H, proband" "M" "" "" "" "0" "" "" "white" "H-II:2" "00412973" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family H, proband\'s sister" "F" "" "" "" "0" "" "" "white" "H-II:3" "00412974" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family I, proband" "F" "" "" "" "0" "" "" "white" "I-II:3" "00412975" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family L, proband" "M" "" "" "" "0" "" "" "East Asian" "L-II:2" "00412976" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family M, proband" "F" "" "" "" "0" "" "" "white" "M-II:2" "00412977" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family N, proband" "F" "" "" "" "0" "" "" "East Asian" "N-III:9" "00412978" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family N, proband\'s mother" "F" "" "" "" "0" "" "" "" "N-II:2" "00412979" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family O, proband" "F" "" "" "" "0" "" "" "white" "O-II:1" "00412980" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family P, proband" "M" "" "" "" "0" "" "" "white" "P-II:13" "00412981" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family Q, proband" "M" "" "" "" "0" "" "" "black" "Q-III:4" "00412982" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family R, proband" "M" "" "" "" "0" "" "" "white" "R-IV:2" "00412983" "" "" "" "1" "" "00000" "{PMID:Verbakel 2019:30913292}" "family S, proband" "F" "" "" "" "0" "" "" "white" "S-III:4" "00413031" "" "" "" "1" "" "00000" "{PMID:Zhang 2019:31059986}" "iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene" "F" "" "" "" "0" "" "" "white" "?" "00414360" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP27" "00419722" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070716" "00420403" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F019" "00420496" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F175" "00420529" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F221" "00420578" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F291" "00424076" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K1, individual IV:1" "" "" "" "" "0" "" "" "" "K1_IV:1" "00424077" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K2, individual II:17" "" "" "" "" "0" "" "" "" "K2_II:17" "00424078" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K3, individual III:6" "" "" "" "" "0" "" "" "" "K3_III:6" "00424079" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K4, individual IV:4" "" "" "" "" "0" "" "" "" "K4_IV:4" "00424080" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K4, individual IV:6" "" "" "" "" "0" "" "" "" "K4_IV:6" "00424081" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K5, individual III:2" "" "" "" "" "0" "" "" "" "K5_III:2" "00424082" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K6, individual III:4" "" "" "" "" "0" "" "" "" "K6_III:4" "00424083" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K7, individual III:8" "" "" "" "" "0" "" "" "" "K7_III:8" "00424084" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K8, individual IV:3" "" "" "" "" "0" "" "" "" "K8_IV:3" "00424085" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K9, individual III:6" "" "" "" "" "0" "" "" "" "K9_III:6" "00424086" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K10, individual III:10" "" "" "" "" "0" "" "" "" "K10_III:10" "00424087" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K11, individual II:3" "" "" "" "" "0" "" "" "" "K11_II:3" "00424088" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family K12, individual III:1" "" "" "" "" "0" "" "" "" "K12_III:1" "00424089" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family S2, individual III:1" "" "" "" "" "0" "" "" "" "S2_III:1" "00424090" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family S3, individual III:2" "" "" "" "" "0" "" "" "" "S3_III:2" "00424091" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family S3, individual III:3" "" "" "" "" "0" "" "" "" "S3_III:3" "00424092" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family S4, individual III:2" "" "" "" "" "0" "" "" "" "S4_III:2" "00424093" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family S1, individual III:4" "" "" "" "" "0" "" "" "" "S1_III:4" "00424094" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family S1, individual IV:2" "" "" "" "" "0" "" "" "" "S1_IV:2" "00424095" "" "" "" "1" "" "00000" "{PMID:Riera 2020:31079053}" "family S1, individual IV:4" "" "" "" "" "0" "" "" "" "S1_IV:4" "00424096" "" "" "" "1" "" "00000" "{PMID:Silva 2020:32005865}" "" "M" "" "" "" "0" "" "" "" "3" "00424097" "" "" "" "1" "" "00000" "{PMID:Silva 2020:32005865}" "" "F" "" "" "" "0" "" "" "" "7" "00424098" "" "" "" "1" "" "00000" "{PMID:Silva 2020:32005865}" "" "M" "" "" "" "0" "" "" "" "5" "00424099" "" "" "" "1" "" "00000" "{PMID:Silva 2020:32005865}" "" "M" "" "" "" "0" "" "" "" "6" "00424100" "" "" "" "1" "" "00000" "{PMID:Silva 2020:32005865}" "" "F" "" "" "" "0" "" "" "" "1" "00424101" "" "" "" "1" "" "00000" "{PMID:Silva 2020:32005865}" "" "F" "" "" "" "0" "" "" "" "4" "00424102" "" "" "" "1" "" "00000" "{PMID:Silva 2020:32005865}" "" "M" "" "" "" "0" "" "" "" "2" "00424103" "" "" "" "1" "" "00000" "{PMID:Nishiguchi 2020:32193659}" "new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019)" "M" "" "Japan" "" "0" "" "" "Japanese" "OPH-147" "00424104" "" "" "" "1" "" "00000" "{PMID:Nishiguchi 2020:32193659}" "new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019)" "M" "" "Japan" "" "0" "" "" "Japanese" "OPH-334" "00424105" "" "" "" "1" "" "00000" "{PMID:Nishiguchi 2020:32193659}" "new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019)" "M" "" "Japan" "" "0" "" "" "Japanese" "OPH-605" "00424106" "" "" "" "1" "" "00000" "{PMID:Nishiguchi 2020:32193659}" "new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019)" "F" "" "Japan" "" "0" "" "" "Japanese" "YWC62" "00424107" "" "" "" "1" "" "00000" "{PMID:Nishiguchi 2020:32193659}" "new additional mutation (Alu insertion) - dominant inheritance rediagnosed to recessive in isolated previously screened patients (Koyanagi et al., 2019)" "M" "" "Japan" "" "0" "" "" "Japanese" "YWC195" "00424108" "" "" "" "1" "" "00000" "{PMID:Huckfeldt 2020:32565670}" "sibling of MEE2" "M" "" "" "" "0" "" "" "" "MEE1" "00424109" "" "" "" "1" "" "00000" "{PMID:Huckfeldt 2020:32565670}" "sibling of MEE1" "M" "" "" "" "0" "" "" "" "MEE2" "00424110" "" "" "" "1" "" "00000" "{PMID:Huckfeldt 2020:32565670}" "" "M" "" "" "" "0" "" "" "" "MEE3" "00424111" "" "" "" "1" "" "00000" "{PMID:Huckfeldt 2020:32565670}" "" "F" "" "" "" "0" "" "" "" "MEE4" "00424112" "" "" "" "1" "" "00000" "{PMID:Huckfeldt 2020:32565670}" "" "F" "" "" "" "0" "" "" "" "MEE5" "00424113" "" "" "" "1" "" "00000" "{PMID:Huckfeldt 2020:32565670}" "" "M" "" "" "" "0" "" "" "" "MEE7" "00424114" "" "" "" "1" "" "00000" 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"0" "" "" "Korean" "A.II-2" "00424151" "" "" "" "1" "" "00000" "{PMID:Won 2021:34183725}" "family B, individual II:1" "F" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "B.II-1" "00424152" "" "" "" "1" "" "00000" "{PMID:Won 2021:34183725}" "family C, individual II:2" "M" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "C.II-2" "00424153" "" "" "" "1" "" "00000" "{PMID:Won 2021:34183725}" "family E, individual II:1" "M" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "E.II-1" "00424154" "" "" "" "1" "" "00000" "{PMID:Won 2021:34183725}" "family D, individual II:2" "M" "" "Korea, South (Republic)" "" "0" "" "" "Korean" "D.II-2" "00424182" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 1, individual JU0511/1, proband" "M" "" "Japan" "" "0" "" "" "Japanese" "1_JU0511/1" "00424183" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 2, individual JU0726/1, proband" "F" "" "Japan" "" "0" "" "" "Japanese" "2_JU0726/1" "00424184" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 3, individual JU1826/1, proband" "F" "" "Japan" "" "0" "" "" "Japanese" "3_JU1826/1" "00424185" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 4, individual NC3401/1, proband" "F" "" "Japan" "" "0" "" "" "Japanese" "4_NC3401/1" "00424186" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 5, individual JU1911/1, proband" "F" "" "Japan" "" "0" "" "" "Japanese" "5_JU1911/1" "00424187" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 6, individual JU0504/1, proband" "F" "" "Japan" "" "0" "" "" "Japanese" "6_JU0504/1" "00424188" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 7, individual JU0547/1" "F" "" "Japan" "" "0" "" "" "Japanese" "7_JU0547/1" "00424189" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 8, individual JU0555/1" "M" "" "Japan" "" "0" "" "" "Japanese" "8_JU0555/1" "00424190" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 9, individual JU0750/1" "F" "" "Japan" "" "0" "" "" "Japanese" "9_JU0750/1" "00424191" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 10, individual JU1615" "F" "" "Japan" "" "0" "" "" "Japanese" "10_JU1615" "00424192" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 10, individual JU1616/2" "M" "" "Japan" "" "0" "" "" "Japanese" "10_JU1616/2" "00424193" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 11, individual JUI662/" "M" "" "Japan" "" "0" "" "" "Japanese" "11_JUI662/" "00424194" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 12, individual JU1763/1" "F" "" "Japan" "" "0" "" "" "Japanese" "12_JU1763/1" "00424195" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 13, individual JU1497/1" "M" "" "Japan" "" "0" "" "" "Japanese" "13_JU1497/1" "00424196" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 14, individual HM_020I/2" "F" "" "Japan" "" "0" "" "" "Japanese" "14_HM_0201/2" "00424197" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 14, individual HM_0198" "F" "" "Japan" "" "0" "" "" "Japanese" "14_HM_0198" "00424198" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 15, individual JU1000/1" "M" "" "Japan" "" "0" "" "" "Japanese" "15_JU1000/1" "00424199" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 16, individual JU1464/1" "F" "" "Japan" "" "0" "" "" "Japanese" "16_JU1464/1" "00424200" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 17, individual JU0514/1" "F" "" "Japan" "" "0" "" "" "Japanese" "17_JU0514/1" "00424201" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 18, individual JU1701/1" "M" "" "Japan" "" "0" "" "" "Japanese" "18_JU1701/1" "00424202" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 19, individual 5275/1" "M" "" "Japan" "" "0" "" "" "Japanese" "19_5275/1" "00424203" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 20, individual JU1W9I/1" "F" "" "Japan" "" "0" "" "" "Japanese" "20_JU1W9I/1" "00424204" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 21, individual JU1339/1" "M" "" "Japan" "" "0" "" "" "Japanese" "21_JU1339/1" "00424205" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 22, individual JU1947/1" "M" "" "Japan" "" "0" "" "" "Japanese" "22_JU1947/1" "00424206" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 23, individual JU1978/1" "M" "" "Japan" "" "0" "" "" "Japanese" "23_JU1978/1" "00424207" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 24, individual JU1672/1" "?" "" "Japan" "" "0" "" "" "Japanese" "24_JU1672/1" "00424208" "" "" "" "1" "" "00000" "{PMID:Mizobuchi 2021:34073704}" "family 5, individual JU1971/1, proband\'s mother" "F" "" "Japan" "" "0" "" "" "Japanese" "5_JU1971/1" "00426942" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 45, individual 54" "F" "" "" "" "0" "" "" "" "45_54" "00429493" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429509" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429520" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429549" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429550" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429590" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429594" "" "" "" "1" "" "04436" "{PMID:Panneman 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"" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-385-1" "00446975" "" "" "00446974" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "F" "" "Germany" "" "0" "" "" "" "ARRP-385-2" "00446997" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-450" "00447005" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-464" "00447015" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-483" "00447016" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-484" "00447021" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-491" "00447255" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" 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"M" "" "Germany" "" "0" "" "" "" "CRD-843" "00447582" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-53" "00447620" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "SRP-1273" "00447622" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1289" "00447649" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ADRP-494" "00447713" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1229" "00449986" "" "" "" "1" "" "02230" "{PMID:Zeuli 2024:38816995}" "" "M" "" "Italy" "" "0" "" "" "white" "Pt-11" "00450984" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "066745" "00450985" "" "" 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"00412782" "04214" "00412784" "04214" "00412785" "04214" "00412786" "04214" "00412791" "04214" "00412798" "04214" "00412799" "04214" "00412800" "04214" "00412801" "04214" "00412802" "04214" "00412803" "04214" "00412804" "04214" "00412805" "04214" "00412806" "04214" "00412807" "04214" "00412808" "04214" "00412809" "04214" "00412810" "04214" "00412811" "04214" "00412812" "04214" "00412813" "04214" "00412814" "04214" "00412815" "04214" "00412816" "04214" "00412817" "04214" "00412818" "04214" "00412819" "04214" "00412820" "04214" "00412821" "04214" "00412822" "04214" "00412823" "04214" "00412824" "04214" "00412825" "04214" "00412826" "04214" "00412827" "04214" "00412828" "04214" "00412830" "04214" "00412831" "04214" "00412832" "04214" "00412833" "04214" "00412834" "04214" "00412835" "04214" "00412836" "04214" "00412837" "04214" "00412838" "04214" "00412839" "04214" "00412840" "04214" "00412841" "04214" "00412842" "04214" "00412843" "04214" "00412844" "04214" "00412845" "04214" "00412846" "04214" "00412847" "04214" "00412848" "04214" "00412849" "04214" "00412850" "04214" "00412852" "04214" "00412853" "04214" "00412854" "04214" "00412855" "04214" "00412856" "04214" "00412857" "04214" "00412858" "04214" "00412859" "04214" "00412860" "04214" "00412861" "04214" "00412862" "04214" "00412863" "04214" "00412864" "04214" "00412865" "04214" "00412866" "04214" "00412867" "04214" "00412868" "04214" "00412869" "04214" "00412870" "04214" "00412871" "04214" "00412872" "04214" "00412873" "04214" "00412874" "04214" "00412875" "04214" "00412876" "04214" "00412877" "04214" "00412878" "04214" "00412879" "04214" "00412880" "04214" "00412881" "04214" "00412882" "04214" "00412883" "04214" "00412884" "04214" "00412885" "04214" "00412886" "04214" "00412887" "04214" "00412894" "04214" "00412895" "04214" "00412896" "04214" "00412897" "04214" "00412898" "04214" "00412899" "04214" "00412900" "04214" "00412903" "04214" "00412904" "04214" "00412905" "04214" "00412906" "04214" "00412907" "04214" "00412908" "04214" "00412909" "04214" "00412910" "04214" "00412911" "04214" "00412912" "04214" "00412913" "04214" "00412914" "04214" "00412915" "04214" "00412916" "04214" "00412917" "04214" "00412918" "04214" "00412919" "04214" "00412920" "04214" "00412921" "04214" "00412922" "04214" "00412923" "04214" "00412924" "04214" "00412925" "04214" "00412926" "04214" "00412927" "04214" "00412928" "04214" "00412930" "04214" "00412931" "04214" "00412932" "04214" "00412933" "04214" "00412934" "04214" "00412935" "04214" "00412936" "04214" "00412937" "04214" "00412938" "04214" "00412939" "04214" "00412940" "04214" "00412941" "04214" "00412942" "04214" "00412943" "04214" "00412944" "04214" "00412945" "04214" "00412946" "04214" "00412947" "04214" "00412948" "04214" "00412949" "04214" "00412952" "04214" "00412953" "04214" "00412954" "04214" "00412955" "04214" "00412956" "04214" "00412957" "04214" "00412959" "04214" "00412960" "04214" "00412966" "04214" "00412967" "04214" "00412968" "04214" "00412969" "04214" "00412970" "04214" "00412971" "04214" "00412972" "04214" "00412973" "04214" "00412974" "04214" "00412975" "04214" "00412976" "04214" "00412977" "04214" "00412978" "04214" "00412979" "04214" "00412980" "04214" "00412981" "04214" "00412982" "04214" "00412983" "04214" "00413031" "04214" "00414360" "00198" "00419722" "04214" "00420403" "04214" "00420496" "04214" "00420529" "04214" "00420578" "04214" "00424076" "04214" "00424077" "04214" "00424078" "04214" "00424079" "04214" "00424080" "04214" "00424081" "04214" "00424082" "04214" "00424083" "04214" "00424084" "04214" "00424085" "04214" "00424086" "04214" "00424087" "04214" "00424088" "04214" "00424089" "04214" "00424090" "04214" "00424091" "04214" "00424092" "04214" "00424093" "04214" "00424094" "04214" "00424095" "04214" "00424096" "04214" "00424097" "04214" "00424098" "04214" "00424099" "04214" "00424100" "04214" "00424101" "04214" "00424102" "04214" "00424103" "04214" "00424104" "04214" "00424105" "04214" "00424106" "04214" "00424107" "04214" "00424108" "04214" "00424109" "04214" "00424110" "04214" "00424111" "04214" "00424112" "04214" "00424113" "04214" "00424114" "04214" "00424115" "04214" "00424116" "04214" "00424117" "04214" "00424118" "04214" "00424119" "04214" "00424120" "04214" "00424121" "04214" "00424122" "04214" "00424123" "04214" "00424124" "04214" "00424125" "04214" "00424126" "04214" "00424138" "04214" "00424139" "04214" "00424140" "04214" "00424141" "04214" "00424142" "04214" "00424143" "04214" "00424144" "04214" "00424145" "04214" "00424146" "04214" "00424150" "04214" "00424151" "04214" "00424152" "04214" "00424153" "04214" "00424154" "04214" "00424182" "04214" "00424183" "04214" "00424184" "04214" "00424185" "04214" "00424186" "04214" "00424187" "04214" "00424188" "04214" "00424189" "04214" "00424190" "04214" "00424191" "04214" "00424192" "04214" "00424193" "04214" "00424194" "04214" "00424195" "04214" "00424196" "04214" "00424197" "04214" "00424198" "04214" "00424199" "04214" "00424200" "04214" "00424201" "04214" "00424202" "04214" "00424203" "04214" "00424204" "04214" "00424205" "04214" "00424206" "04214" "00424207" "04214" "00424208" "04214" "00426942" "04214" "00429493" "00112" "00429509" "00112" "00429520" "00112" "00429549" "00112" "00429550" "00112" "00429590" "00112" "00429594" "00112" "00429614" "00112" "00429628" "00112" "00429644" "00112" "00429649" "00112" "00429667" "00112" "00429668" "00112" "00429694" "00112" "00429788" "00112" "00429847" "00112" "00429897" "00112" "00429899" "00112" "00429914" "00112" "00429923" "04210" "00429925" "00112" "00429988" "04210" "00429997" "00112" "00430023" "00112" "00430038" "00112" "00430039" "00112" "00430063" "00112" "00430086" "00112" "00430111" "00112" "00444309" "04214" "00445399" "01541" "00446936" "00198" "00446937" "00198" "00446938" "00198" "00446962" "00198" "00446974" "00198" "00446975" "00198" "00446997" "00198" "00447005" "00198" "00447015" "00198" "00447016" "00198" "00447021" "00198" "00447255" "00198" "00447277" "00198" "00447289" "00198" "00447301" "00198" "00447306" "00198" "00447478" "00198" "00447527" "00198" "00447544" "00198" "00447582" "00198" "00447620" "00198" "00447622" "00198" "00447649" "00198" "00447713" "00198" "00449986" "04214" "00450984" "04249" "00450985" "04249" "00451120" "04249" "00451122" "04249" "00451123" "04249" "00451124" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00112, 00198, 00381, 01541, 03367, 04209, 04210, 04211, 04214, 04249 ## Count = 1094 "{{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}}" "0000026291" "04214" "00032862" "00228" "Unknown" "" "non-syndromic" "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026292" "04211" "00032863" "00228" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026293" "04211" "00032864" "00228" "Familial, autosomal recessive" "" "" ">12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026294" "04211" "00032865" "00228" "Familial, autosomal recessive" "" "" ">17y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026295" "04209" "00032866" "00228" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026296" "04209" "00032867" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026297" "04211" "00032868" "00228" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026298" "04211" "00032869" "00228" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026299" "04214" "00032870" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026300" "04209" "00032871" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026301" "04209" "00032872" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026302" "04209" "00032873" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026303" "04209" "00032874" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026304" "04209" "00032875" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026305" "04209" "00032876" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026306" "04209" "00032877" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026307" "04209" "00032878" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026308" "04209" "00032879" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026309" "04209" "00032880" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026310" "04209" "00032881" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026311" "04209" "00032882" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026312" "04209" "00032883" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026313" "04209" "00032884" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026314" "04209" "00032885" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026315" "04209" "00032886" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026316" "04209" "00032887" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026317" "04209" "00032888" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026318" "04209" "00032889" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026319" "04209" "00032890" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026320" "04209" "00032891" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026321" "04209" "00032892" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026322" "04209" "00032893" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026323" "04209" "00032894" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026324" "04209" "00032895" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026325" "04209" "00032896" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026326" "04209" "00032897" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026327" "04209" "00032898" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026328" "04211" "00032899" "00228" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026329" "04209" "00032900" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026330" "04209" "00032901" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026331" "04214" "00032902" "00228" "Unknown" "" "simplex" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026332" "04211" "00032903" "00228" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026333" "04214" "00032904" "00228" "Unknown" "" "simplex" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026334" "04211" "00032905" "00228" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026335" "04211" "00032906" "00228" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026336" "04211" "00032907" "00228" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026337" "04209" "00032908" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026338" "04209" "00032909" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026339" "04209" "00032910" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026340" "04209" "00032911" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026341" "04209" "00032912" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026342" "04209" "00032913" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026343" "04209" "00032914" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026344" "04209" "00032915" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026345" "04209" "00032916" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026346" "04209" "00032917" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026347" "04209" "00032918" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026348" "04209" "00032919" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026349" "04209" "00032920" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026350" "04209" "00032921" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026351" "04209" "00032922" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026352" "04209" "00032923" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026353" "04209" "00032924" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026354" "04209" "00032925" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026355" "04209" "00032926" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026356" "04209" "00032927" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026357" "00000" "00032928" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026358" "04209" "00032929" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026359" "04209" "00032930" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026360" "04209" "00032931" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026361" "04209" "00032932" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026362" "04209" "00032933" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026363" "04209" "00032934" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026364" "04209" "00032935" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026365" "04209" "00032936" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026366" "04209" "00032937" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026367" "04209" "00032938" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026368" "04209" "00032939" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026369" "04209" "00032940" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026370" "04209" "00032941" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026371" "04209" "00032942" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026372" "04209" "00032943" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026373" "04209" "00032944" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026374" "04209" "00032945" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026375" "04209" "00032946" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026376" "04209" "00032947" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026377" "04214" "00032948" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026378" "04209" "00032949" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026379" "04209" "00032950" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026380" "04209" "00032951" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026381" "00198" "00032952" "00228" "Unknown" "" "retinitis pigmentosa, autosomal dominant?" "" "" "" "" "" "" "" "" "" "" "" "0000026382" "04209" "00032953" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026383" "04209" "00032954" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026384" "04209" "00032955" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026385" "04214" "00032956" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026386" "04214" "00032957" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026387" "04214" "00032958" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026388" "04209" "00032959" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026389" "04209" "00032960" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026390" "04209" "00032961" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026391" "04214" "00032962" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026392" "04214" "00032963" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026393" "04209" "00032964" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026394" "04209" "00032965" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026395" "04209" "00032966" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026396" "00000" "00032967" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026397" "04209" "00032968" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026398" "04214" "00032969" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026399" "04209" "00032970" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026400" "00000" "00032971" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026401" "04214" "00032972" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026402" "04214" "00032973" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026403" "04214" "00032974" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026404" "04209" "00032975" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026405" "04214" "00032976" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026406" "04214" "00032977" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026407" "04209" "00032978" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026408" "00000" "00032979" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026409" "00000" "00032980" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026410" "04214" "00032981" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026411" "04214" "00032982" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026412" "04209" "00032983" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026413" "04209" "00032984" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026414" "04209" "00032985" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026415" "04209" "00032986" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026416" "04209" "00032987" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026417" "04209" "00032988" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026418" "04209" "00032989" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026419" "04209" "00032990" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026420" "04209" "00032991" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026421" "04209" "00032992" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026422" "04209" "00032993" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026423" "04209" "00032994" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026424" "04209" "00032995" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026425" "04209" "00032996" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026426" "04209" "00032997" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026427" "04209" "00032998" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026428" "04209" "00032999" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026429" "04209" "00033000" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026430" "04209" "00033001" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026431" "04209" "00033002" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026432" "04214" "00033003" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026433" "00000" "00033004" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026434" "00000" "00033005" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026435" "00198" "00033006" "00006" "Unknown" "" "hypertriglyceridaemia, association with" "" "" "" "" "" "" "" "" "" "" "" "0000026436" "00198" "00033007" "00006" "Unknown" "" "photoreceptor protein deficiency?" "" "" "" "" "" "" "" "" "" "" "" "0000026437" "00000" "00033008" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026438" "04214" "00033009" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026439" "04214" "00033010" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026440" "04214" "00033011" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026441" "00198" "00033012" "00006" "Unknown" "" "photoreceptor protein deficiency?" "" "" "" "" "" "" "" "" "" "" "" "0000026442" "04209" "00033013" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026443" "04209" "00033014" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026444" "04209" "00033015" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026445" "04209" "00033016" "00228" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026446" "04209" "00033017" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026447" "04209" "00033018" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026448" "04209" "00033019" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026449" "04209" "00033020" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026450" "04209" "00033021" "00228" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026451" "00000" "00033022" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026452" "04214" "00033023" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026453" "04214" "00033024" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026454" "04214" "00033025" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026455" "04214" "00033026" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026456" "04214" "00033027" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026457" "04214" "00033028" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026458" "04214" "00033029" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026459" "04214" "00033030" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026460" "04214" "00033031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026461" "04214" "00033032" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026462" "04214" "00033033" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026463" "04214" "00033034" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026464" "00000" "00033035" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026465" "00000" "00033036" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026466" "00000" "00033037" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026527" "04214" "00033098" "00229" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026528" "04214" "00033099" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026531" "04214" "00033102" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026532" "04214" "00033103" "00229" "Unknown" "36y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026567" "04214" "00033138" "00229" "Unknown" "" "hypertension" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026596" "04214" "00033167" "00229" "Unknown" "" "hyperornithemia" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026598" "04214" "00033169" "00229" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026768" "04214" "00033339" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026769" "04214" "00033340" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026770" "04214" "00033341" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026772" "04214" "00033343" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026789" "04214" "00033360" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027026" "04214" "00033597" "00142" "Familial, autosomal recessive" "" "early onset" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027027" "04214" "00033598" "00142" "Familial, autosomal recessive" "" "early onset" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027028" "04214" "00033599" "00142" "Familial, autosomal recessive" "" "early onset" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027033" "04214" "00033604" "00130" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000074211" "04211" "00095922" "01769" "Familial, autosomal recessive" "" "Progressive RP" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000074225" "04214" "00095948" "01769" "Familial, autosomal recessive" "" "Progressive RP" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000074227" "04214" "00095950" "01769" "Familial, autosomal recessive" "" "progressive RP" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000078319" "04214" "00100079" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000078330" "04214" "00100091" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000078351" "04214" "00100114" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000128043" "04214" "00155543" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000155218" "04214" "00207439" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000155412" "04214" "00207601" "01244" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000155413" "04214" "00207602" "01244" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000207735" "04214" "00269939" "01848" "Familial, autosomal dominant" "42y" "Pericentral RP, incidental diagnosis, pericentral field loss" "38y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000226950" "04214" "00299640" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110" "20y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000227907" "04214" "00269940" "00006" "Familial, autosomal dominant" "52y" "RP, photophobia; reduction of visual acuity, constricted with ring scotoma" "47y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000228773" "00198" "00301672" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "0000233261" "04214" "00307821" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000233262" "04214" "00307822" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000233263" "04214" "00307823" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000233840" "04214" "00308413" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233979" "04214" "00308551" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233980" "04214" "00308552" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234070" "04214" "00308642" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234117" "04214" "00308797" "00004" "Unknown" "73y" "see paper; ..." "53y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000234118" "04214" "00308798" "00004" "Unknown" "84y" "see paper; ..." "60y" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000234119" "04214" "00308799" "00004" "Unknown" "37y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234120" "04214" "00308800" "00004" "Unknown" "63y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234121" "04214" "00308801" "00004" "Unknown" "67y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234122" "04214" "00308802" "00004" "Unknown" "30y" "see paper; ..." "18y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234123" "04214" "00308803" "00004" "Unknown" "48y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234124" "04214" "00308804" "00004" "Unknown" "37y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234125" "04214" "00308805" "00004" "Unknown" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234126" "04214" "00308806" "00004" "Unknown" "78y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234127" "04214" "00308807" "00004" "Unknown" "55y" "see paper; ..." "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234128" "04214" "00308808" "00004" "Unknown" "44y" "see paper; ..." "18y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234129" "04214" "00308809" "00004" "Unknown" "84y" "see paper; ..." "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234130" "04214" "00308810" "00004" "Unknown" "68y" "see paper; ..." "50y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234131" "04214" "00308811" "00004" "Unknown" "50y" "see paper; ..." "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234132" "04214" "00308812" "00004" "Unknown" "80y" "see paper; ..." "26y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234133" "04214" "00308813" "00004" "Unknown" "51y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "cone‐rod dystrophy" "" "0000234134" "04214" "00308814" "00004" "Unknown" "58y" "see paper; ..." "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234135" "04214" "00308815" "00004" "Unknown" "37y" "see paper; ..." "25y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234136" "04214" "00308816" "00004" "Unknown" "31y" "see paper; ..." "31y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234137" "04214" "00308817" "00004" "Unknown" "47y" "see paper; ..." "4y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234138" "04214" "00308818" "00004" "Unknown" "41y" "see paper; ..." "8y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234139" "04214" "00308819" "00004" "Unknown" "44y" "see paper; ..." "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234140" "04214" "00308820" "00004" "Unknown" "73y" "see paper; ..." "65y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234141" "04214" "00308821" "00004" "Unknown" "60y" "see paper; ..." "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234142" "04214" "00308822" "00004" "Unknown" "42y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234143" "04214" "00308823" "00004" "Unknown" "69y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234144" "04214" "00308824" "00004" "Unknown" "42y" "see paper; ..." "35y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234145" "04214" "00308825" "00004" "Familial, autosomal recessive" "29y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234146" "04214" "00308826" "00004" "Familial, autosomal recessive" "12y" "see paper; ..." "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234147" "04214" "00308827" "00004" "Familial, autosomal recessive" "34y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234148" "04214" "00308828" "00004" "Familial, autosomal recessive" "32y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234149" "04214" "00308829" "00004" "Familial, autosomal recessive" "46y" "see paper; ..." "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234150" "04214" "00308830" "00004" "Familial, autosomal recessive" "54y" "see paper; ..." "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234151" "04214" "00308831" "00004" "Familial, autosomal recessive" "28y" "see paper; ..." "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234152" "04214" "00308832" "00004" "Familial, autosomal recessive" "26y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234153" "04214" "00308833" "00004" "Familial, autosomal recessive" "41y" "see paper; ..." "25y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000234154" "04214" "00308834" "00004" "Familial, autosomal recessive" "55y" "see paper; ..." "44y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000234155" "04214" "00308835" "00004" "Familial, autosomal recessive" "43y" "see paper; ..." "36y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000234156" "04214" "00308836" "00004" "Familial, autosomal recessive" "61y" "see paper; ..." "50y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234692" "04214" "00309372" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234693" "04214" "00309373" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234694" "04214" "00309374" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234951" "04214" "00309631" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000235133" "04214" "00309819" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235136" "04214" "00309822" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000243965" "04214" "00325478" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243975" "04214" "00325488" "00006" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000245144" "04214" "00326678" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" "" "0000245154" "04214" "00326688" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" "" "0000245155" "04214" "00326689" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" "" "0000245156" "04214" "00326690" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" "" "0000245157" "04214" "00326691" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" "" "0000246155" "04214" "00327928" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246161" "04214" "00327934" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246308" "04214" "00328081" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246363" "04214" "00328136" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246383" "04214" "00328156" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246384" "04214" "00328157" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246399" "04214" "00328172" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246429" "04214" "00328202" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246437" "04214" "00328210" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246443" "04214" "00328216" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246485" "04214" "00328258" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246489" "04214" "00328262" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246492" "04214" "00328265" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246529" "04214" "00328302" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246571" "04214" "00328344" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249478" "04214" "00331284" "00000" "Familial, autosomal recessive" "49y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250391" "04214" "00332204" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, retinal degeneration" "" "0000250397" "04214" "00332210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250398" "04214" "00332211" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250408" "04214" "00332221" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250675" "04214" "00332491" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000250676" "04214" "00332492" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000250677" "04214" "00332493" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000251620" "04214" "00333434" "00000" "Unknown" "80y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251621" "04214" "00333435" "00000" "Unknown" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251703" "04214" "00333519" "00000" "Familial, autosomal dominant" "68y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251704" "04214" "00333520" "00000" "Familial, autosomal dominant" "64y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251714" "04214" "00333530" "00000" "Familial, autosomal dominant" "57y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251761" "04214" "00333577" "00000" "Familial, autosomal dominant" "47y" "clinical category IA1aii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251762" "04214" "00333578" "00000" "Familial, autosomal dominant" "45y" "clinical category IA1aii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251793" "04214" "00333609" "00000" "Familial, autosomal dominant" "70y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251794" "04214" "00333610" "00000" "Familial, autosomal dominant" "62y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251795" "04214" "00333611" "00000" "Familial, autosomal dominant" "63y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251830" "04214" "00333646" "00000" "Familial, autosomal dominant" "63y" "clinical category IB" "" "" "" "" "" "" "" "" "" "syndromic retinitis pigmentosa (dental, palatal)" "" "0000252040" "04214" "00333855" "00000" "Familial, autosomal recessive" "30y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252521" "04214" "00334432" "00000" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252522" "04214" "00334433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252523" "04214" "00334434" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252524" "04214" "00334435" "00000" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252865" "00198" "00335150" "00000" "Unknown" "" "12y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252866" "00198" "00335151" "00000" "Familial, autosomal dominant" "" "30y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252867" "00198" "00335152" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252868" "00198" "00335153" "00000" "Familial, autosomal recessive" "" "5y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252997" "04214" "00335282" "02485" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252998" "04214" "00335283" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253025" "04214" "00335310" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253055" "04214" "00335341" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253333" "04214" "00335387" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253364" "04214" "00335418" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253500" "04214" "00335555" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253501" "04214" "00335556" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253502" "04214" "00335557" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253503" "04214" "00335558" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253504" "04214" "00335559" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253505" "04214" "00335560" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253506" "04214" "00335561" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253507" "04214" "00335562" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253508" "04214" "00335563" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253632" "04214" "00335712" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253633" "04214" "00335713" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253634" "04214" "00335714" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253635" "04214" "00335715" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253636" "04214" "00335716" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253952" "04214" "00358737" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253953" "04214" "00358738" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253954" "04214" "00358739" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253955" "04214" "00358740" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253977" "03367" "00358762" "00000" "Isolated (sporadic)" "42y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography blurring ellipsoid zone, absence interdigitation zone" "38y" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" "0000253987" "03367" "00358772" "00000" "Isolated (sporadic)" "64y" "ERG-full field normal, central dysfunction; funduscopy normal; spectral‐domain optical coherence tomography no blurring ellipsoid zone, absence interdigitation zone" "62y" "" "" "" "" "" "" "" "" "occult macular dystrophy" "" "0000254003" "04214" "00358788" "00000" "Familial, autosomal recessive" "73y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254231" "04214" "00358932" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254232" "04214" "00358933" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254256" "04214" "00358958" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254257" "04214" "00358959" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254258" "04214" "00358960" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254259" "04214" "00358961" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254262" "04214" "00358964" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254402" "04214" "00359105" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254405" "04214" "00359108" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254416" "04214" "00359119" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254442" "04214" "00359145" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254449" "04214" "00359152" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254488" "04214" "00359191" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254500" "04214" "00359203" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254510" "04214" "00359213" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254515" "04214" "00359218" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254520" "04214" "00359223" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" "" "0000254616" "04214" "00359320" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000254617" "04214" "00359321" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000254618" "04214" "00359322" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000254646" "04214" "00359375" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000257604" "04214" "00362190" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000257605" "04214" "00362191" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258252" "04214" "00362886" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258255" "04214" "00362889" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258870" "04214" "00363521" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258941" "04214" "00363591" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000258942" "04214" "00363592" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000258945" "04214" "00363595" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259025" "04214" "00363675" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259055" "04214" "00363705" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259090" "04214" "00363740" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259223" "04214" "00363884" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000259224" "04214" "00363885" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267406" "04214" "00372077" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267408" "04214" "00372079" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267929" "04214" "00372650" "00000" "Familial, autosomal dominant" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267930" "04214" "00372651" "00000" "Familial, autosomal recessive" "15y" "see paper; ..." "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267952" "04214" "00372673" "00000" "Familial, autosomal recessive" "15y" "see paper; ..." "11y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267955" "04214" "00372676" "00000" "Familial, autosomal recessive" "20y" "see paper; ..." "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267962" "04214" "00372683" "00000" "Familial, X-linked" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267977" "04214" "00372698" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267994" "04214" "00372715" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267995" "04214" "00372716" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268006" "04214" "00372727" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268011" "04214" "00372732" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268013" "04214" "00372734" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268647" "04214" "00373371" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268745" "04214" "00373469" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268746" "04214" "00373470" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268747" "04214" "00373471" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268752" "04214" "00373476" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268776" "04214" "00373500" "00000" "Familial, autosomal recessive" "21y" "see paper; ..." "5y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000269020" "04214" "00373811" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269031" "04214" "00373822" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269032" "04214" "00373823" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269033" "04214" "00373824" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BBS1" "Bardet-Biedl syndrome" "" "0000269045" "04214" "00373836" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270109" "04214" "00374899" "00000" "Isolated (sporadic)" "40y" "best corrected visual acuity hand movement/hand movement" "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270115" "04214" "00374905" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity light perception/light perception" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270117" "04214" "00374907" "00000" "Isolated (sporadic)" "23y" "best corrected visual acuity hand movement/hand movement" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270521" "04214" "00375307" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270522" "04214" "00375308" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270554" "04214" "00375340" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270626" "04214" "00375412" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270629" "04214" "00375415" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270636" "04214" "00375422" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270649" "04214" "00375435" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270660" "04214" "00375446" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270666" "04214" "00375452" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271976" "04214" "00376765" "00000" "Familial, autosomal recessive" "39y" "" "" "" "" "" "" "" "" "" "" "Nyctalopia, decreased peripheral vision, history of plaquenil" "" "0000271978" "04214" "00376767" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000271991" "04214" "00376780" "00000" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "" "Night blindness, visual field peripheral restriction, decreased vision, ERG consistent with retinitis pigmentosa" "" "0000271992" "04214" "00376781" "00000" "Familial, autosomal dominant" "6y" "" "" "" "" "" "" "" "" "" "" "Juvenile retinitis pigmentosa/LCA, nonrecordable electoretinogram, retinopathy" "" "0000272392" "04214" "00377234" "00000" "Familial, autosomal dominant" "37y" "see paper" "28y" "32y" "" "" "" "" "" "" "retinitis pigmentosa, type 1 (RP1)" "retinal disease" "" "0000272429" "04214" "00377271" "00000" "Familial, autosomal dominant" "41y" "see paper" "27y6m" "38y" "" "" "" "" "" "" "retinitis pigmentosa, type 1 (RP1)" "retinal disease" "" "0000272619" "04214" "00377469" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272620" "04214" "00377470" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272621" "04214" "00377471" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272622" "04214" "00377472" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272623" "04214" "00377473" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272624" "04214" "00377474" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272625" "04214" "00377475" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272626" "04214" "00377476" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272627" "04214" "00377477" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272628" "04214" "00377478" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000272629" "04214" "00377479" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" "" "0000273178" "00058" "00378032" "03508" "Familial, autosomal recessive" "" "HP:0032037, HP:0000662, HP:0001133, HP:0001288, HP:0000007, HP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" "" "0000273204" "04249" "00378062" "03508" "Familial, autosomal recessive" "" "HP:0000662, HP:0000613, HP:0001129, HP:0000007, HP:0007754" "" "" "" "" "" "" "" "" "" "dystrophy, macular (MCD)" "" "0000273269" "04214" "00379396" "00000" "Unknown" "30y" "" "13y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273272" "04214" "00379399" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273413" "00112" "00379540" "03508" "Familial, autosomal dominant" "" "HP:0000662, HP:0000613, HP:0003745, HP:0000510, HP:0001133" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273414" "04249" "00379541" "03508" "Familial, autosomal recessive" "" "HP:0000662, HP:0000613, HP:0001129, HP:0003745, HP:0007754, HP:0032037" "" "" "" "" "" "" "" "" "" "dystrophy, macular (MCD)" "" "0000273429" "04214" "00379555" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "recessive Usher syndrome" "" "0000273465" "04214" "00379611" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant retinitis pigmentosa (adRP)" "" "0000273466" "04214" "00379612" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant retinitis pigmentosa (adRP)" "" "0000273467" "04214" "00379613" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant retinitis pigmentosa (adRP)" "" "0000273484" "00058" "00379640" "03508" "Familial, autosomal recessive" "" "HP:0032122\tHP:0000662\tHP:0000613,\tHP:0001129,\tHP:0000551,\tHP:0003745,\tHP:0000639,\tHP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" "" "0000273498" "04249" "00379654" "03508" "Familial, autosomal recessive" "" "HP:0030515,\tHP:0001129,\tHP:0000551,\tHP:0003745,\tHP:0007754" "" "" "" "" "" "" "" "" "" "dystrophy, macular (MCD)" "" "0000273525" "00058" "00379681" "03508" "Familial, autosomal recessive" "" "HP:0001141,\tHP:0000662,\tHP:0000613,\tHP:0000551,\tHP:0000006,\tHP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" "" "0000273526" "00112" "00379682" "03508" "Familial, autosomal dominant" "" "HP:0032037,\tHP:0000662,\tHP:0001133,\tHP:0000006,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273531" "00058" "00379687" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0001123,\tHP:0000006,\tHP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" "" "0000273730" "04214" "00379876" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273731" "04214" "00379877" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy" "" "0000273732" "04214" "00379878" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273949" "00112" "00380094" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0000662,\tHP:0001133,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274006" "04249" "00380151" "03508" "Familial, autosomal recessive" "" "HP:0001141,\tHP:0000662,\tHP:0000613,\tHP:0001123,\tHP:0000551,\tHP:0007754" "" "" "" "" "" "" "" "" "" "dystrophy, macular (MCD)" "" "0000274011" "00058" "00380156" "03508" "Familial, autosomal recessive" "" "HP:0001141,\tHP:0000662,\tHP:0000613,\tHP:0001129,\tHP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" "" "0000274012" "00112" "00380157" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000551,\tHP:0001288,\tHP:0000365,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274018" "00112" "00380163" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0000613,\tHP:0001133,\tHP:0001483,\tHP:0000365,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274055" "04214" "00380200" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274057" "04214" "00380202" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274107" "04214" "00380256" "00000" "Unknown" "29y" "very poor visual acuity of 0.02 in the RE and 0.04 in the LE, and slitlamp examination showed an intraocular lens in the RE cataract in the LE" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000274113" "04214" "00380262" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000274171" "04214" "00380320" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274172" "04214" "00380321" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" "" "0000274173" "04214" "00380322" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274174" "04214" "00380323" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" "" "0000274175" "04214" "00380324" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" "0000274176" "04214" "00380325" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000274177" "04214" "00380326" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000274226" "04214" "00380375" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274230" "04214" "00380379" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274768" "04214" "00380915" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 1" "" "0000274770" "04214" "00380917" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 1" "" "0000274896" "04214" "00381045" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275026" "04214" "00381175" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275450" "04214" "00381608" "00000" "Isolated (sporadic)" "" "" "38y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275451" "04214" "00381609" "00000" "Isolated (sporadic)" "" "" "47y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275452" "04214" "00381610" "00000" "Isolated (sporadic)" "" "" "37y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275453" "04214" "00381611" "00000" "Isolated (sporadic)" "" "" "12y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275458" "04214" "00381616" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275469" "04214" "00381627" "00000" "Isolated (sporadic)" "" "" "26y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275490" "04214" "00381648" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275494" "04214" "00381652" "00000" "Isolated (sporadic)" "" "" "37y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275499" "04214" "00381657" "00000" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275513" "04214" "00381671" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275532" "04214" "00381690" "00000" "Familial, autosomal recessive" "" "" "4y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275601" "04214" "00381759" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275602" "04214" "00381760" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275603" "04214" "00381761" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275604" "04214" "00381762" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275605" "04214" "00381763" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275606" "04214" "00381764" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275607" "04214" "00381765" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275608" "04214" "00381766" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275639" "04214" "00381797" "00000" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275640" "04214" "00381798" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275642" "04214" "00381800" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinosis pigmentosa" "" "0000275643" "04214" "00381801" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinosis pigmentosa" "" "0000275644" "04214" "00381802" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinosis pigmentosa" "" "0000275645" "04214" "00381803" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinosis pigmentosa" "" "0000275646" "04214" "00381804" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinosis pigmentosa" "" "0000275652" "04214" "00381810" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275730" "04214" "00381888" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000276044" "04214" "00382195" "00000" "Familial, autosomal recessive" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276045" "04214" "00382196" "00000" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276046" "04214" "00382197" "00000" "Familial, autosomal dominant" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276047" "04214" "00382198" "00000" "Familial, autosomal dominant" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276048" "04214" "00382199" "00000" "Familial, autosomal dominant" "63y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276049" "04214" "00382200" "00000" "Familial, autosomal dominant" "73y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276050" "04214" "00382201" "00000" "Familial, autosomal dominant" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276051" "04214" "00382202" "00000" "Familial, autosomal dominant" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276052" "04214" "00382203" "00000" "Familial, autosomal dominant" "76y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276053" "04214" "00382204" "00000" "Familial, autosomal dominant" "85y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276054" "04214" "00382205" "00000" "Familial, autosomal dominant" "73y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276055" "04214" "00382206" "00000" "Familial, autosomal dominant" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276056" "04214" "00382207" "00000" "Familial, autosomal dominant" "86y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276057" "04214" "00382208" "00000" "Familial, autosomal dominant" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276058" "04214" "00382209" "00000" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "" "" "0000276067" "04214" "00382218" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "" "0000276250" "04214" "00382401" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276251" "04214" "00382402" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Generalized retinal dystrophy (non-syndromic)" "" "0000276252" "04214" "00382403" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276253" "04214" "00382404" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276254" "04214" "00382405" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276255" "04214" "00382406" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276256" "04214" "00382407" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276257" "04214" "00382408" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276258" "04214" "00382409" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276259" "04214" "00382410" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276260" "04214" "00382411" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276261" "04214" "00382412" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276262" "04214" "00382413" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276263" "04214" "00382414" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276266" "04214" "00382417" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276443" "04214" "00382594" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276444" "04214" "00382595" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276445" "04214" "00382596" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276446" "04214" "00382597" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276447" "04214" "00382598" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277273" "04214" "00383488" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277475" "04214" "00383690" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277608" "04214" "00383823" "00000" "Familial, autosomal recessive" "26y" "BCVA OD-OS: 20/40-20/40" "" "23y" "" "" "" "" "" "" "" "" "" "0000277609" "04214" "00383824" "00000" "Familial, autosomal recessive" "33y" "BCVA OD-OS: 20/150-hand movement" "" "32y" "" "" "" "" "" "" "" "" "" "0000277610" "04214" "00383825" "00000" "Familial, autosomal dominant" "54y" "BCVA OD-OS: 20/20-20/20" "" "53y" "" "" "" "" "" "" "" "" "" "0000277706" "04214" "00383921" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277710" "04214" "00383925" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277740" "04214" "00383955" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277750" "04214" "00383965" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277771" "04214" "00383986" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277783" "04214" "00383998" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277791" "04214" "00384006" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277825" "04214" "00384040" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277829" "04214" "00384044" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277866" "04214" "00384081" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277869" "04214" "00384084" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277873" "04214" "00384088" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277877" "04214" "00384092" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277926" "04214" "00384141" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277940" "04214" "00384155" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277942" "04214" "00384157" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277982" "04214" "00384197" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277998" "04214" "00384213" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278034" "04214" "00384249" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278053" "04214" "00384268" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa+high myopia?" "" "0000278110" "04214" "00384325" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular degeneration" "" "0000278286" "04214" "00384501" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278360" "04214" "00384572" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278361" "04214" "00384573" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278834" "04214" "00385050" "00000" "Familial, autosomal recessive" "28y" "nyctalopia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.2/0.1" "4y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000279211" "04214" "00385415" "00000" "Familial, autosomal dominant" "36y" "36" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279550" "04214" "00385737" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279978" "04214" "00386175" "00000" "Familial, autosomal recessive" "44y" "" "" "38y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000280029" "04214" "00386226" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280351" "04214" "00386551" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280353" "04214" "00386553" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280522" "04214" "00386722" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280549" "04214" "00386749" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280565" "04214" "00386765" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280604" "04214" "00386804" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280645" "04214" "00386845" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280659" "04214" "00386859" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280795" "04214" "00387017" "00000" "Familial, autosomal dominant" "53y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280796" "04214" "00387018" "00000" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280797" "04214" "00387019" "00000" "Familial, autosomal dominant" "46y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280798" "04214" "00387020" "00000" "Familial, autosomal dominant" "65y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280799" "04214" "00387021" "00000" "Familial, autosomal dominant" "44y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280800" "04214" "00387022" "00000" "Familial, autosomal dominant" "30y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280801" "04214" "00387023" "00000" "Familial, autosomal dominant" "56y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280802" "04214" "00387024" "00000" "Familial, autosomal dominant" "52y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280803" "04214" "00387025" "00000" "Familial, autosomal dominant" "68y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280804" "04214" "00387026" "00000" "Familial, autosomal dominant" "38y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280805" "04214" "00387027" "00000" "Familial, autosomal dominant" "55y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280806" "04214" "00387028" "00000" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280853" "04214" "00387075" "00000" "Familial, autosomal recessive" "59y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal recessive" "" "" "0000280949" "04214" "00387386" "00000" "Familial, X-linked" "39y" "posterior subcapsular cataract, posterior pole choroidal atrophy, positive family history, BCVA OD/OS: HM/HM" "5y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000280956" "04214" "00387393" "00000" "Familial, autosomal dominant" "39y" "punctate, total choroidal atrophy, negative family history, BCVA OD/OS: HM/HM, macular hole" "8y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000280957" "04214" "00387394" "00000" "Familial, autosomal recessive" "21y" "posterior subcapsular cataract, total choroidal atrophy, negative family history, BCVA OD/OS: HM/HM, total color blindness" "0y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000281194" "04214" "00387631" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Adult retinal dystrophy" "" "0000281645" "04214" "00388050" "00000" "Familial, autosomal recessive" "54y" "high myopia and myopic chorioretinitis, irregular astigmatism, incipient cataract and retinal dystrophy." "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000281646" "04214" "00388051" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281837" "04214" "00388282" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000281838" "04214" "00388283" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000281839" "04214" "00388284" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000281840" "04214" "00388285" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000282083" "04214" "00388543" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "9y" "" "" "" "" "" "" "Retinitis pigmentosa type 1" "Retinitis pigmentosa" "" "0000282103" "04214" "00388563" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "14y" "" "" "" "" "" "" "Retinitis pigmentosa type 1" "Retinitis pigmentosa" "" "0000282389" "04214" "00388848" "00000" "Familial, autosomal dominant" "72y" "age at genetic diagnosis mentioned" "" "69y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000282390" "04214" "00388849" "00000" "Familial, autosomal dominant" "48y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000282406" "04214" "00388865" "00000" "Familial, autosomal recessive" "47y" "age at genetic diagnosis mentioned" "" "40y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282846" "04214" "00389305" "00000" "Familial, autosomal recessive" "18y" "age at genetic diagnosis mentioned" "" "11y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282917" "04214" "00389376" "00000" "Familial, autosomal dominant" "41y" "age at genetic diagnosis mentioned" "" "34y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000282918" "04214" "00389377" "00000" "Familial, autosomal dominant" "79y" "age at genetic diagnosis mentioned" "" "72y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000282919" "04214" "00389378" "00000" "Familial, autosomal dominant" "51y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000282920" "04214" "00389379" "00000" "Familial, autosomal dominant" "52y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283126" "04214" "00389585" "00000" "Familial, autosomal dominant" "56y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283127" "04214" "00389586" "00000" "Familial, autosomal dominant" "58y" "age at genetic diagnosis mentioned" "" "53y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283128" "04214" "00389587" "00000" "Familial, autosomal dominant" "94y" "age at genetic diagnosis mentioned" "" "90y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283198" "04214" "00389657" "00000" "Familial, autosomal dominant" "53y" "age at genetic diagnosis mentioned" "" "50y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283217" "04214" "00389676" "00000" "Familial, autosomal dominant" "78y" "age at genetic diagnosis mentioned" "" "75y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283233" "04214" "00389692" "00000" "Familial, autosomal dominant" "67y" "age at genetic diagnosis mentioned" "" "65y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283250" "04214" "00389709" "00000" "Isolated (sporadic)" "48y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283295" "04214" "00389754" "00000" "Isolated (sporadic)" "27y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283329" "04214" "00389788" "00000" "Isolated (sporadic)" "45y" "age at genetic diagnosis mentioned" "" "37y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283381" "04214" "00389840" "00000" "Isolated (sporadic)" "81y" "age at genetic diagnosis mentioned" "" "77y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283443" "04214" "00389902" "00000" "Isolated (sporadic)" "35y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283444" "04214" "00389903" "00000" "Isolated (sporadic)" "39y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283478" "04214" "00389937" "00000" "Isolated (sporadic)" "76y" "age at genetic diagnosis mentioned" "" "73y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283530" "04214" "00389989" "00000" "Isolated (sporadic)" "43y" "age at genetic diagnosis mentioned" "" "42y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283585" "04214" "00390045" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000283909" "04214" "00390371" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283910" "04214" "00390372" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283911" "04214" "00390373" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283912" "04214" "00390374" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283913" "04214" "00390375" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283914" "04214" "00390376" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283915" "04214" "00390377" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283916" "04214" "00390378" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283917" "04214" "00390379" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283918" "04214" "00390380" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283919" "04214" "00390381" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283920" "04214" "00390382" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283921" "04214" "00390383" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283922" "04214" "00390384" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284013" "04214" "00390475" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000284249" "04214" "00390761" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284277" "04214" "00390789" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284382" "04214" "00390894" "00000" "Familial, autosomal recessive" "51y-55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284425" "04214" "00390937" "00000" "Unknown" "56y-60y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284432" "04214" "00390944" "00000" "Familial, autosomal recessive" "16y-20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284666" "04214" "00391225" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284678" "04214" "00391237" "00000" "Familial, autosomal dominant" "71y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284688" "04214" "00391247" "00000" "Familial, autosomal recessive" "31y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284691" "04214" "00391250" "00000" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284692" "04214" "00391251" "00000" "Familial, autosomal recessive" "38y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284693" "04214" "00391252" "00000" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284694" "04214" "00391253" "00000" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284695" "04214" "00391254" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284697" "04214" "00391256" "00000" "Familial, autosomal dominant" "58y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284699" "04214" "00391258" "00000" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284702" "04214" "00391261" "00000" "Familial, autosomal dominant" "78y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284710" "04214" "00391269" "00000" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284724" "04214" "00391283" "00000" "Familial, autosomal dominant" "42y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284791" "04214" "00391351" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 1(180100)" "Retinitis pigmentosa 1(180100)" "" "0000284792" "04214" "00391352" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 1(180100)" "Retinitis pigmentosa 1(180100)" "" "0000284793" "04214" "00391353" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 1(180100)" "Retinitis pigmentosa 1(180100)" "" "0000285419" "04214" "00392141" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception/light perception, visual field: constricted, electroretinography: no response left eye and very low amplitude and delay right eye, cataracts and nystagmus" "" "" "" "" "" "" "" "" "RPN-336" "retinitis pigmentosa" "" "0000285444" "04214" "00392166" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception/light perception, visual field: constricted, electroretinography: no response left eye and very low amplitude and delay right eye, cataracts and nystagmus" "" "" "" "" "" "" "" "" "RPN-336" "retinitis pigmentosa" "" "0000285604" "04214" "00392328" "00000" "Familial, autosomal dominant" "58y" "best corrected visual acuity right/left eye: 0.3/0.5, electroretinograhy responses: extinguished" "35y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285605" "04214" "00392329" "00000" "Familial, autosomal dominant" "35y" "best corrected visual acuity right/left eye: 0.6/0.4, electroretinograhy responses: rod absent, severe defect of cone function" "32y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285610" "04214" "00392334" "00000" "Familial, autosomal dominant" "42y" "best corrected visual acuity right/left eye: 1.0/1.0, electroretinograhy responses: extinguished" "35y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285611" "04214" "00392335" "00000" "Familial, autosomal dominant" "62y" "best corrected visual acuity right/left eye: 0.4/0.5, electroretinograhy responses: extinguished" "40y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285622" "04214" "00392346" "00000" "Familial, autosomal dominant" "24y" "best corrected visual acuity right/left eye: 0.5/0.5, electroretinograhy responses: rod absent, severe defect of cone function" "23y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285631" "04214" "00392355" "00000" "Familial, autosomal dominant" "44y" "best corrected visual acuity right/left eye: 0.4/0.8, electroretinograhy responses: rod absent, severe defect of cone function" "39y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285641" "04214" "00392365" "00000" "Familial, autosomal dominant" "46y" "best corrected visual acuity right/left eye: 0.3/0.6, electroretinograhy responses: not available" "41y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285667" "04214" "00392391" "00000" "Familial, autosomal dominant" "67y" "best corrected visual acuity right/left eye: 0.15/0.03, electroretinograhy responses: extinguished" "20y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285821" "04214" "00392574" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285833" "04214" "00392586" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285837" "04214" "00392590" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285858" "04214" "00392611" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285872" "04214" "00392625" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) Stargardt disease redifined to macular dystrophy" "" "" "" "" "" "" "" "" "macular dystrophy" "Stargardt disease" "" "0000285915" "04214" "00392668" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285920" "04214" "00392673" "00000" "Familial, autosomal recessive" "" "initial diagnosis of autosomal recessive cone-rod dystrophy redifined to retinitis pigmentosa" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "cone-rod dystrophy" "" "0000285923" "04214" "00392676" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286659" "04214" "00393453" "00000" "Isolated (sporadic)" "8y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286722" "04214" "00393516" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286857" "04214" "00393651" "00000" "Isolated (sporadic)" "11y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286858" "04214" "00393652" "00000" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286915" "04214" "00393709" "00000" "Isolated (sporadic)" "44y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286989" "04214" "00393783" "00000" "Isolated (sporadic)" "24y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287009" "04214" "00393803" "00000" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287050" "04214" "00393844" "00000" "Familial, autosomal dominant" "52y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287107" "04214" "00393901" "00000" "Familial, autosomal recessive" "55y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287112" "04214" "00393906" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287538" "04214" "00394334" "00000" "Familial, autosomal recessive" "" "" "" "27y" "" "" "" "" "" "" "retinits pigmentosa" "" "" "0000287726" "04214" "00394523" "00000" "Familial, autosomal dominant" "61y" "" "25y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287727" "04214" "00394524" "00000" "Familial, autosomal dominant" "55y" "" "44y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287728" "04214" "00394525" "00000" "Familial, autosomal dominant" "69y" "" "20y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287729" "04214" "00394526" "00000" "Familial, autosomal dominant" "81y" "" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287730" "04214" "00394527" "00000" "Familial, autosomal dominant" "68y" "" "40y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287731" "04214" "00394528" "00000" "Familial, autosomal dominant" "53y" "" "39y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287732" "04214" "00394529" "00000" "Familial, autosomal dominant" "45y" "" "27y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287733" "04214" "00394530" "00000" "Familial, autosomal dominant" "38y" "" "27y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287734" "04214" "00394531" "00000" "Familial, autosomal dominant" "47y" "" "3y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287735" "04214" "00394532" "00000" "Familial, autosomal dominant" "65y" "" "53y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287736" "04214" "00394533" "00000" "Familial, autosomal dominant" "37y" "" "3y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287737" "04214" "00394534" "00000" "Familial, autosomal dominant" "35y" "" "17y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287738" "04214" "00394535" "00000" "Familial, autosomal dominant" "69y" "" "15y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287830" "04214" "00394627" "00000" "Familial, autosomal recessive" "50y" "" "4y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287831" "04214" "00394628" "00000" "Familial, autosomal recessive" "56y" "" "8y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287832" "04214" "00394629" "00000" "Familial, autosomal recessive" "30y" "" "14y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287833" "04214" "00394630" "00000" "Familial, autosomal recessive" "65y" "" "6y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287834" "04214" "00394631" "00000" "Familial, autosomal recessive" "53y" "" "11y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287835" "04214" "00394632" "00000" "Familial, autosomal recessive" "33y" "" "5y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000289057" "04214" "00395895" "00000" "Unknown" "51y4m" "" "47y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000289058" "04214" "00395896" "00000" "Unknown" "4y4m" "" "3y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000289059" "04214" "00395897" "00000" "Unknown" "48y4m" "" "45y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289103" "04214" "00395941" "00000" "Unknown" "40y10m" "" "41y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289130" "04214" "00395968" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289131" "04214" "00395969" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289132" "04214" "00395970" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289629" "04214" "00396468" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (Recessive)" "" "" "0000289689" "04214" "00396528" "00000" "Isolated (sporadic)" "24y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289692" "04214" "00396531" "00000" "Familial, autosomal dominant" "44y" "decreased visual acuity" "44y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289694" "04214" "00396533" "00000" "Isolated (sporadic)" "29y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289699" "04214" "00396538" "00000" "Isolated (sporadic)" "10y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289729" "04214" "00396568" "00000" "Isolated (sporadic)" "52y" "decreased visual acuity" "52y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289781" "04214" "00396620" "00000" "Isolated (sporadic)" "35y" "night blindness" "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289794" "04214" "00396633" "00000" "Familial, autosomal recessive" "60y" "decreased visual acuity" "57y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000296699" "04214" "00404110" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000296700" "04214" "00404111" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000304236" "04214" "00412222" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304727" "04214" "00412736" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304728" "04214" "00412737" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304729" "04214" "00412738" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304730" "04214" "00412739" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304731" "04214" "00412740" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304732" "04214" "00412741" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304733" "04214" "00412742" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304734" "04214" "00412743" "00000" "Familial, autosomal dominant" "" "recorded as being \"\"at risk\"\" by the clinician, but not clinically examined; may be presymptomatic" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304735" "04214" "00412744" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304736" "04214" "00412745" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304737" "04214" "00412746" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304738" "04214" "00412747" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304739" "04214" "00412748" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304740" "04214" "00412749" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304741" "04214" "00412750" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304742" "04214" "00412751" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304743" "04214" "00412752" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304744" "04214" "00412753" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304745" "04214" "00412754" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304746" "04214" "00412755" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304747" "04214" "00412756" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304748" "04214" "00412757" "00000" "Familial, autosomal dominant" "" "whole single index patient group description: ages at the time of examination: 35-49y; findings typical for retinitis pigmentosa: nightblindness as an early symptom, constricted visual fields and fundoscopic findings of attenuated vessels and intraretinal pigmentation; best-corrected visual acuity ranged from 20/20 to 20/70, with a mean of 20/26; electroretinograms: reduced in amplitude; mixed cone/rod responses to 0.5-Hz flashes of white light ranged in amplitude from 1.3 to 5.0 uV (average=2.7 uV), and cone ERG responses to 30-Hz flashes of white light ranged in amplitude from 0.11 to 2.02 uV (average=0.78)" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304749" "04214" "00412758" "00000" "Familial, autosomal dominant" "" "visual acuities and electroretinogram findings in the same range as patients with the Arg677Ter mutation" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304750" "04214" "00412759" "00000" "Familial, autosomal dominant" "" "visual acuities and electroretinogram findings in the same range as patients with the Arg677Ter mutation" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304751" "04214" "00412760" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304752" "04214" "00412761" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304753" "04214" "00412762" "00000" "Familial, autosomal dominant" "32y" "visual acuity 20/25; electroretinogram findings: large responses, 0.5-Hz amplitude, 50 uV; 30-Hz amplitude, 17 u" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304754" "04214" "00412763" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304755" "04214" "00412764" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304756" "04214" "00412765" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304757" "04214" "00412766" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304758" "04214" "00412767" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304759" "04214" "00412768" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304760" "04214" "00412769" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304761" "04214" "00412770" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304762" "04214" "00412771" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304763" "04214" "00412772" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304764" "04214" "00412773" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304765" "04214" "00412774" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304766" "04214" "00412775" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304767" "04214" "00412776" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304768" "04214" "00412777" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304769" "04214" "00412778" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304770" "04214" "00412779" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304771" "04214" "00412780" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304772" "04214" "00412781" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304773" "04214" "00412782" "00000" "Familial, autosomal dominant" "" "whole family description: ophthalmoscopic hallmarks of retinal degeneration, including attenuated retinal vessels and bone spicule-like pigmentation; electroretinograms showed either reduced or non-detectable rod b-waves and reduced cone flicker ERGs with abnormally delayed timing" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304775" "04214" "00412784" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304776" "04214" "00412785" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304777" "04214" "00412786" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "" "0000304782" "04214" "00412791" "00000" "Familial, autosomal dominant" "" "night and peripheral vision disturbances beginning in the third decade of life; 30y: best corrected visual acuity right, left eye: 20/30, 20/20, ophthalmoscopy: mild peripheral pigmentary retinopathy without apparent regional predilection; kinetic visual fields with a large target (V-4e): symmetrical and full; small target (I-4e): only a central island with a relative paracentral scotoma; rod sensitivity: normal near fixation, markedly reduced in the midperiphery, but less abnormal in the far periphery; long/middle wavelength (L/M) cone sensitivity: normal at fixation and at some loci in the far periphery; the midperiphery showed greater loss of sensitivity than other regions; rod sensitivity loss was at least 2 log units greater than cone sensitivity loss; rod and cone electroretinograms: abnormal; rod ERG b-waves markedly reduced in amplitude (31 uV; normal mean +/- SD = 299 +/- 52 uV). Both a-wave (40 uV; normal: 297 +/- 65 uV) and b-wave (64 uV; normal 497 +/- 111 uV) of the mixed cone-rod ERG were reduced in amplitude (approximately 10% of mean normal); cone ERGs amplitudes: also reduced but to a lesser extent (approximately 30% of mean normal); flicker timing: delayed (45 ms; normal 30 +/- 1.2 ms); optical coherence tomography: cross-sectional images of the central retina in the left eye - abnormal retinal architecture in the patient, the fovea thickened, cystoid macular edema, the adjacent superior retina was thinner than normal; longitudinal reflectivity profiles at the fovea and parafovea: although retinal thickness at the fovea was increased, the double-peaked outer retina-choroidal complex (ORCC) was preserved, consistent with normal visual acuity and normal cone sensitivity at fixation in this eye; superior retinal locus: reduced OCT thickness (from vitreoretinal interface to ORCC offset) and only a single-peaked ORCC" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304784" "04214" "00412798" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304785" "04214" "00412799" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304786" "04214" "00412800" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304787" "04214" "00412801" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304788" "04214" "00412802" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304789" "04214" "00412803" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304790" "04214" "00412804" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304791" "04214" "00412805" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304792" "04214" "00412806" "00000" "Familial, autosomal dominant" "78y" "mild and late-onset autosomal dominant retinitis pigmentosa - visual acuity: 0.3, recordable rod and cone electroretinographic signals; visual disturbances noted after age 50 years, with more severe clinical features after age 60 years" "40y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304793" "04214" "00412807" "00000" "Familial, autosomal dominant" "" "mild and late-onset autosomal dominant retinitis pigmentosa - the rest of the family general description: 7 patients (17 to 38y) from the third or fourth generations ranged from 20/25 to 20/20, without noticeable night blindness; late-onset, less severe, and slower decline of visual functions" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304794" "04214" "00412808" "00000" "Familial, autosomal dominant" "" "mild and late-onset autosomal dominant retinitis pigmentosa - the rest of the family general description: 7 patients (17 to 38y) from the third or fourth generations ranged from 20/25 to 20/20, without noticeable night blindness; late-onset, less severe, and slower decline of visual functions" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304795" "04214" "00412809" "00000" "Familial, autosomal dominant" "" "mild and late-onset autosomal dominant retinitis pigmentosa - the rest of the family general description: 7 patients (17 to 38y) from the third or fourth generations ranged from 20/25 to 20/20, without noticeable night blindness; late-onset, less severe, and slower decline of visual functions" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304796" "04214" "00412810" "00000" "Familial, autosomal dominant" "" "mild and late-onset autosomal dominant retinitis pigmentosa - the rest of the family general description: 7 patients (17 to 38y) from the third or fourth generations ranged from 20/25 to 20/20, without noticeable night blindness; late-onset, less severe, and slower decline of visual functions" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304797" "04214" "00412811" "00000" "Familial, autosomal dominant" "" "mild and late-onset autosomal dominant retinitis pigmentosa - the rest of the family general description: 7 patients (17 to 38y) from the third or fourth generations ranged from 20/25 to 20/20, without noticeable night blindness; late-onset, less severe, and slower decline of visual functions" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304798" "04214" "00412812" "00000" "Familial, autosomal dominant" "" "mild and late-onset autosomal dominant retinitis pigmentosa - the rest of the family general description: 7 patients (17 to 38y) from the third or fourth generations ranged from 20/25 to 20/20, without noticeable night blindness; late-onset, less severe, and slower decline of visual functions" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304799" "04214" "00412813" "00000" "Familial, autosomal dominant" "" "mild and late-onset autosomal dominant retinitis pigmentosa - the rest of the family general description: 7 patients (17 to 38y) from the third or fourth generations ranged from 20/25 to 20/20, without noticeable night blindness; late-onset, less severe, and slower decline of visual functions" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304800" "04214" "00412814" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304801" "04214" "00412815" "00000" "Familial, autosomal dominant" "56y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304802" "04214" "00412816" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304803" "04214" "00412817" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304804" "04214" "00412818" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304805" "04214" "00412819" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304806" "04214" "00412820" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304807" "04214" "00412821" "00000" "Isolated (sporadic)" "61y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304808" "04214" "00412822" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304809" "04214" "00412823" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304810" "04214" "00412824" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304811" "04214" "00412825" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304812" "04214" "00412826" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304813" "04214" "00412827" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304814" "04214" "00412828" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304816" "04214" "00412830" "00000" "Familial, autosomal dominant" "63y" "unilateral RP; visually asymptomatic;retinal signs as an incidental observation; best-corrected visual acuity of 20/30 both eyes; anterior segment examination of both eyes: posterior subcapsular cataracts; funduscopy: narrow arterioles, retinal pigment epithelial atrophy and bone-spicule intraretinal pigment deposition in all quadrants of the peripheral retina in the right eye with sparing of the macular region - left fundus completely normal; no abnormality of color vision (Hardy-Rand-Rittler and Ishihara pseudoisochromatic charts) in either eye; Goldmann peripheral fields: normal in the right eye but showed generalized constriction to 10deg transversely with a III4e target in the left; fundus autofluorescence of the right eye showed patchy hypofluorescence in the midperipheral retina and a hyperfluorescent ring in the macular region; the left eye was normal; optical coherence tomographic findings left eye: normal, right eye: preservation of the outer retinal architecture in the foveal and parafoveal regions with loss in the more peripheral macula; full-field electroretinogram (ERG) of the left eye: normal, right eye: undetectable rod-specific findings; a delayed and markedly subnormal bright-flash ERG a-wave and proportional b-wave, markedly subnormal but not delayed results on 30-Hz flicker and single-flash photopic ERGs; pattern ERG: bilaterally normal; electro-oculogram light rise: undetectable on the right and normal on the left" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304817" "04214" "00412831" "00000" "Familial, autosomal recessive" "21y" "best corrected visual acuity right, left eye: 20/400, counting fingers 3 ft = 20/2666; refraction: -5.00-2.00x90-4.75-1.50x80; fundus: attenuated retinal blood vessels, diffuse pigmentery changes, macular atrophy, optic disc pallor" "4y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304818" "04214" "00412832" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304819" "04214" "00412833" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304820" "04214" "00412834" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304821" "04214" "00412835" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304822" "04214" "00412836" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304823" "04214" "00412837" "00000" "Familial, autosomal recessive" "16y" "best corrected visual acuity right, left eye: hand movement, counting fingers 2ft = 20/4000; refraction: -4.00-1.00x140-4.50-1.25x160; fundus: attenuated retinal blood vessels, diffuse pigmentery changes, macular atrophy, optic disc pallor" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304824" "04214" "00412838" "00000" "Familial, autosomal recessive" "12y" "best corrected visual acuity right, left eye: 20/25, 20/28; refraction: -0.50-0.50x65-0.50-0.50x131; fundus: attenuated vessels, pigmentery changes, optic pallor" "4y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304825" "04214" "00412839" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304826" "04214" "00412840" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304827" "04214" "00412841" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304828" "04214" "00412842" "00000" "Familial, autosomal recessive" "35y" "clinical findings: not available" "0m" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304829" "04214" "00412843" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304830" "04214" "00412844" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304831" "04214" "00412845" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304832" "04214" "00412846" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: not available; refraction: -7.00-2.00x15-4.50-1.25x135; fundus: attenuated vessels, pigmentery changes, optic atrophy" "4y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304833" "04214" "00412847" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304834" "04214" "00412848" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304835" "04214" "00412849" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304836" "04214" "00412850" "00000" "Familial, autosomal recessive" "33y" "best corrected visual acuity right, left eye: 20/30, 20/60; refraction: not available; fundus: attenuated vessels, mild optic nerve head pallor" "18y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304838" "04214" "00412852" "00000" "Familial, autosomal recessive" "" "general recessive patients description: myopic, with a mean spherical equivalent of -6.26 diopters +/- 5.41 (range -1.00 to -13.75); 20y: visual acuity < 0.5 on average and < 50 % of remaining visual field in average; scotopic and photopic electroretinograms: unrecordable (3) or only traces (1 patient); moderate decrease in visual acuity during the second decade (from 1 to 0.18), dramatic decrease in the third decade (from 0.75 to light perception); peripheral visual field: decreased to a tubular vision in the third decade, 20y: fundus: typical bone spicule-shaped pigment deposits covering more or less densely the entire periphery; variable degree of narrowing of retinal vessels; photoreceptor inner/outer segment layer was observable only in the fovea in the second decade and disappeared with a severe thinning of the macula in the third decade" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304839" "04214" "00412853" "00000" "Familial, autosomal recessive" "" "general recessive patients description: myopic, with a mean spherical equivalent of -6.26 diopters +/- 5.41 (range -1.00 to -13.75); 20y: visual acuity < 0.5 on average and < 50 % of remaining visual field in average; scotopic and photopic electroretinograms: unrecordable (3) or only traces (1 patient); moderate decrease in visual acuity during the second decade (from 1 to 0.18), dramatic decrease in the third decade (from 0.75 to light perception); peripheral visual field: decreased to a tubular vision in the third decade, 20y: fundus: typical bone spicule-shaped pigment deposits covering more or less densely the entire periphery; variable degree of narrowing of retinal vessels; photoreceptor inner/outer segment layer was observable only in the fovea in the second decade and disappeared with a severe thinning of the macula in the third decade; only this patient - 29y: moderate macular involvement, bilateral epiretinal membrane" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304840" "04214" "00412854" "00000" "Familial, autosomal recessive" "" "general recessive patients description: myopic, with a mean spherical equivalent of -6.26 diopters +/- 5.41 (range -1.00 to -13.75); 20y: visual acuity < 0.5 on average and < 50 % of remaining visual field in average; scotopic and photopic electroretinograms: unrecordable (3) or only traces (1 patient); moderate decrease in visual acuity during the second decade (from 1 to 0.18), dramatic decrease in the third decade (from 0.75 to light perception); peripheral visual field: decreased to a tubular vision in the third decade, 20y: fundus: typical bone spicule-shaped pigment deposits covering more or less densely the entire periphery; variable degree of narrowing of retinal vessels; photoreceptor inner/outer segment layer was observable only in the fovea in the second decade and disappeared with a severe thinning of the macula in the third decade; only this patient - the atrophy spread out to the entire macula; bilateral epiretinal membrane" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304841" "04214" "00412855" "00000" "Familial, autosomal recessive" "" "general recessive patients description: myopic, with a mean spherical equivalent of -6.26 diopters +/- 5.41 (range -1.00 to -13.75); 20y: visual acuity < 0.5 on average and < 50 % of remaining visual field in average; scotopic and photopic electroretinograms: unrecordable (3) or only traces (1 patient); moderate decrease in visual acuity during the second decade (from 1 to 0.18), dramatic decrease in the third decade (from 0.75 to light perception); peripheral visual field: decreased to a tubular vision in the third decade, 20y: fundus: typical bone spicule-shaped pigment deposits covering more or less densely the entire periphery; variable degree of narrowing of retinal vessels; photoreceptor inner/outer segment layer was observable only in the fovea in the second decade and disappeared with a severe thinning of the macula in the third decade, only this patient - 20y: moderate macular involvement" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304842" "04214" "00412856" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304843" "04214" "00412857" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304844" "04214" "00412858" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304845" "04214" "00412859" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304846" "04214" "00412860" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304847" "04214" "00412861" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304848" "04214" "00412862" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304849" "04214" "00412863" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304850" "04214" "00412864" "00000" "Familial, autosomal dominant" "" "asymptomatic" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304851" "04214" "00412865" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304852" "04214" "00412866" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304853" "04214" "00412867" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304854" "04214" "00412868" "00000" "Familial, autosomal dominant" "" "asymptomatic" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304855" "04214" "00412869" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304856" "04214" "00412870" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304857" "04214" "00412871" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304858" "04214" "00412872" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304859" "04214" "00412873" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304860" "04214" "00412874" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304861" "04214" "00412875" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304862" "04214" "00412876" "00000" "Familial, autosomal dominant" "" "asymptomatic" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304863" "04214" "00412877" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304864" "04214" "00412878" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304865" "04214" "00412879" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304866" "04214" "00412880" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304867" "04214" "00412881" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304868" "04214" "00412882" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304869" "04214" "00412883" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304870" "04214" "00412884" "00000" "Familial, autosomal dominant" "" "general dominant patients description: four patients asymptomatic, much milder than recessive; photophobia on average at 35y first examination was at 43y on average - almost half the visual field remained and electroretinogram responses were still recordable; some patients had no pigment deposits in fundus, some others had densely distributed deposits, but they generally retained enough visual acuity for reading" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304871" "04214" "00412885" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity right, left eye: light perception, light perception; fundus: attenuated arterioles, bone spicules, pale optic disc" "8y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304872" "04214" "00412886" "00000" "Familial, autosomal recessive" "29y" "best corrected visual acuity right, left eye: 1/300 , 1/300 ; fundus: attenuated arterioles, bone spicules, pale optic disc" "9y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304873" "04214" "00412887" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: 1/300 , 2/60; fundus: attenuated arterioles, bone spicules" "11y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304880" "04214" "00412894" "00000" "Familial, autosomal recessive" "42y" "best corrected visual acuity and refraction right, left eye:hand motion in both eyes; color vision (15 desaturated hue): examination impossible due to low vision; binocular kinetic visual field (III4e stimulus): reduced to peripheral islands of perception; full field and multifocal electroretinography: both undetectable; fundus: pale optic disc narrowed blood vessels, macular atrophic changes, and optic nerve drusen ; fundus autofluorescence:hypoautofluorescence in the macular region; spectral domain optical coherence tomography: thinning of outer retina in the macular region" "6y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304881" "04214" "00412895" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity and refraction right, left eye:light perception in both eyes; color vision (15 desaturated hue): examination impossible due to low vision; binocular kinetic visual field (III4e stimulus): impossible due to low vision; full field and multifocal electroretinography: both undetectable; fundus: widespread retinal pigment epithelium changes and retinal atrophy in both the periphery and the macular area ; fundus autofluorescence:widespread loss of fundus autofluorescence; spectral domain optical coherence tomography: widespread thinning of outer retina" "3y" "" "night blindness and rapid decreased vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304882" "04214" "00412896" "00000" "Familial, autosomal recessive" "25y" "best corrected visual acuity and refraction right, left eye:hand motion -3 (-1) 0deg, 20/160 -3 (-0.50) 0deg; color vision (15 desaturated hue): dyschromatopsia with no specific axis; binocular kinetic visual field (III4e stimulus): reduced to 5 central degrees; full field and multifocal electroretinography: both undetectable; fundus: well-colored optic disc and no narrowing of retinal vessels, retinal pigment epithelium changes in the periphery and macular atrophic changes ; fundus autofluorescence:hypoautofluorescence in the macular region and outside the vascular arcades; spectral domain optical coherence tomography: thinning of outer retina in the macular region" "19y" "" "night blindness and decreased vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304883" "04214" "00412897" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity and refraction right, left eye:20/63 plano (-3) 180deg, 20/50 plano (-1.75) 180deg; color vision (15 desaturated hue): deutan defect on both eyes; binocular kinetic visual field (III4e stimulus): reduced to 10 degrees x 20 degrees; full field and multifocal electroretinography: both undetectable; fundus: pale optic disc head, narrowed retinal vessels, and retinal pigment epithelium changes in the periphery with some macular atrophic changes; fundus autofluorescence:hypoautofluorescence in the macular region and outside the vascular arcades; spectral domain optical coherence tomography: thinning of outer retina in the macular region" "<12y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304884" "04214" "00412898" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity and refraction right, left eye:20/50 -9.25 (-2.50) 15deg, 20/50 -9 (-1.75) 100deg; color vision (15 desaturated hue): -; binocular kinetic visual field (III4e stimulus): reduced to the 10 central degrees; full field and multifocal electroretinography: both undetectable; fundus: mild optic disc pallor, atrophic macular changes, and peripheral pigment deposits ; fundus autofluorescence:hypoautofluorescence in the macular region; spectral domain optical coherence tomography: thinning of outer retina in the macular region" "9y" "" "night blindness and decreased vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304885" "04214" "00412899" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity and refraction right, left eye:20/100 -4.25 (-1.25) 150deg, 20/80 -4.25 (-1.25) 150deg; color vision (15 desaturated hue): normal at the saturated test; binocular kinetic visual field (III4e stimulus): reduced to the 10 central degrees; full field and multifocal electroretinography: both undetectable; fundus: well-colored optic disc but narrowed retinal vessels, retinal pigment epithelium changes in the periphery and macular atrophic changes ; fundus autofluorescence:hypoautofluorescence in the macular region and outside the vascular arcades; spectral domain optical coherence tomography: thinning of outer retina in the macular region" "<18y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304886" "04214" "00412900" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity and refraction right, left eye:20/125 +2 (-2) 95deg, 20/125 +1.75 (-2) 70degc ; color vision (15 desaturated hue): dyschromatopsia with no specific axis ; binocular kinetic visual field (III4e stimulus): reduced to the 10 central degrees; full field and multifocal electroretinography: both undetectable; fundus: pale optic disc, narrowed retinal vessels, and retinal pigment epithelium changes in the periphery with some macular atrophic changes ; fundus autofluorescence:hypoautofluorescence in the macular region and outside the vascular arcades; spectral domain optical coherence tomography: thinning of outer retina in the macular region" "5y" "" "night blindness and decreased vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304889" "04214" "00412903" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -6.0/-5.5" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304890" "04214" "00412904" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -4.5/-5.125" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304891" "04214" "00412905" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -0.75/-0.75" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304892" "04214" "00412906" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -8.0/-5.125" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304893" "04214" "00412907" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -2.875/-2.0" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304894" "04214" "00412908" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -1.75/-1.875" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304895" "04214" "00412909" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -8.75/-8.625" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304896" "04214" "00412910" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -12.75/-12.875" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304897" "04214" "00412911" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -9.50/-10.25" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304898" "04214" "00412912" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -7.75/-7.875" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304899" "04214" "00412913" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -2.50/-3.125" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304900" "04214" "00412914" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -12.375/-13.50" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304901" "04214" "00412915" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -1.0/-1.50" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304902" "04214" "00412916" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -11.0/-11.0" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304903" "04214" "00412917" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -9.0/-9.0" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304904" "04214" "00412918" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -3.50/-3.375" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304905" "04214" "00412919" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -0.625/-0.625" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304906" "04214" "00412920" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -2.75/-1.375" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304907" "04214" "00412921" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -0.75/-0.25" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304908" "04214" "00412922" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -3.25/-3.25" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304909" "04214" "00412923" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -12.75/-14.50" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304910" "04214" "00412924" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -3.125/-3.125" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304911" "04214" "00412925" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -2.125/-1.50" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304912" "04214" "00412926" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -8.375/-4.375" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304913" "04214" "00412927" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -1.875/-1.875" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304914" "04214" "00412928" "00000" "Familial, autosomal recessive" "" "spherical equivalent: -12.0/-7.0" "" "" "" "" "" "" "" "" "retinitis pigmentosa associated with myopia" "" "" "0000304916" "04214" "00412930" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304917" "04214" "00412931" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304918" "04214" "00412932" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304919" "04214" "00412933" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304920" "04214" "00412934" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304921" "04214" "00412935" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304922" "04214" "00412936" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304923" "04214" "00412937" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304924" "04214" "00412938" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304925" "04214" "00412939" "00000" "Familial, autosomal recessive" "25y" "bone spicule-like pigmentation in the mid-periphery of the retina, attenuated retinal arteriole, severe maculopathy, and disc pallor" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304926" "04214" "00412940" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304927" "04214" "00412941" "00000" "Familial, autosomal recessive" "10y" "bone spicule-like pigmentation in the mid-periphery of the retina, attenuated retinal arteriole, severe maculopathy, and disc pallor" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304928" "04214" "00412942" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304929" "04214" "00412943" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304930" "04214" "00412944" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304931" "04214" "00412945" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304932" "04214" "00412946" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304933" "04214" "00412947" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304934" "04214" "00412948" "00000" "Familial, autosomal recessive" "12y" "bone spicule-like pigmentation in the mid-periphery of the retina, attenuated retinal arteriole, severe maculopathy, and disc pallor" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304935" "04214" "00412949" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304938" "04214" "00412952" "00000" "Familial, autosomal recessive" "45y" "" "33y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304939" "04214" "00412953" "00000" "Familial, autosomal recessive" "38y" "" "29y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304940" "04214" "00412954" "00000" "Familial, autosomal recessive" "38y" "" "29y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304941" "04214" "00412955" "00000" "Familial, autosomal recessive" "35y" "electroretinogram: a or/and b-wave were affected both eyes; fundus: pigment deposits, optic disk waxy, artery attenuation" "18y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304942" "04214" "00412956" "00000" "Isolated (sporadic)" "25y" "" "<18y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304943" "04214" "00412957" "00000" "Isolated (sporadic)" "40y" "" "16y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304945" "04214" "00412959" "00000" "Familial, autosomal recessive" "34y" "best corrected visual acuity: 7y: 1.2 both eyes; 34y: 0.2 with a refraction of - 2.0 D/- 0.50 D 9 30 in the right eye and 0.01 with a refraction of - 2.0 D/- 1.50 D 9 170 in the left eye; anterior segments: normal, no cataract; fundus: diffuse retinal degeneration, along with macular atrophy, bone-spicule pigmentation from the arcade vessel area to the mid-periphery, narrowed retinal vessels, and waxy pallor of optic disks; fundus autofluorescence: patchy and coalescent hypoautofluorescent areas at the posterior pole; optical coherence tomography: defined inner retinal layers, outer retinal layers, retinal pigment epithelium layer, and ellipsoid zone disrupted; Goldmann perimetry visual field: severe concentric constriction 2-5deg from fixation with a temporal island; full-field electroretinograms: non-recordable under all standard stimulus and recording conditions" "4y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304946" "04214" "00412960" "00000" "Familial, autosomal recessive" "9y" "9y: best corrected visual acuity right/left eye: 0,32/0,25 - reduced visual acuity on the right side; rod-cone dystrophy with right eye retinal detachment with macular involvement; serous pathogenesis was considered - therapy attempt with local carbonic anhydrase inhibitors and non-steroidal anti-inflammatory drugs as the usual therapeutic approach for serous retinal detachment: unsuccessful; outermost retinal periphery under general anesthesia: rhegmatogenous retinal detachment, subsequent surgical rehabilitation; one small, peripherally located round hole; optical coherence tomography: discrete changes in retrospective reassessment of the OCT images from 3y: ellipsoid zone and the interdigitation zone with subtle abnormalities that still spare the fovea, thinning of the outer retinal layers (outer plexiform and granular layer, membrana limitans externa and inner segment complex); reduced visual acuity data in infancy should therefore be carefully questioned with regard to subtle changes in the OCT, even if the macula and papilla appear ophthalmoscopically inconspicuous and there is no evidence of bilateral amblyopia, e.g. due to a high uncorrected refractive anomaly" "3y" "" "lowered visual acuity" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000304952" "04214" "00412966" "00000" "Familial, autosomal recessive" "77y" "best corrected visual acuity right, left eye: 20/400, 20/400; spherical equivalent refraction: -8.38, -8.00; lens status: mild posterior subcapsular cataract, severe cortical and nuclear cataract; electroretinogram, scotopic: subnormal, photopic: moderately reduced; Goldmann perimetry: central scotoma" "31y" "" "decrease in visual acuity / metamorphopsia" "" "" "" "" "" "macular dystrophy" "" "" "0000304953" "04214" "00412967" "00000" "Familial, autosomal recessive" "69y" "best corrected visual acuity right, left eye: 20/200, 20/200; spherical equivalent refraction: -2.00, -2.00; lens status: cortical and nuclear cataract; electroretinogram, scotopic: normal, photopic: normal; Goldmann perimetry: central scotoma" "50y" "" "decrease in visual acuity" "" "" "" "" "" "macular dystrophy" "" "" "0000304954" "04214" "00412968" "00000" "Familial, autosomal recessive" "67y" "best corrected visual acuity right, left eye: 20/500, 20/63; spherical equivalent refraction: -5.50, -4.88; lens status: cortical and nuclear cataract, mild posterior subcapsular cataract; electroretinogram, scotopic: normal, photopic: normal; Goldmann perimetry: central scotoma" "45y" "" "metamorphopsia" "" "" "" "" "" "macular dystrophy" "" "" "0000304955" "04214" "00412969" "00000" "Familial, autosomal recessive" "64y" "best corrected visual acuity right, left eye: 20/110, 20/125; spherical equivalent refraction: -2.00, -1.00; lens status: mild cortical and nuclear cataract; electroretinogram, scotopic: severely reduced, photopic: severely reduced; Goldmann perimetry: slightly constricted visual field (right eye>left eye), moderate central sensitivity loss" "56y" "" "decrease in visual acuity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000304956" "04214" "00412970" "00000" "Familial, autosomal recessive" "55y" "best corrected visual acuity right, left eye: 20/400, 20/17; spherical equivalent refraction: -1.00, -0.50; lens status: clear; electroretinogram, scotopic: normal, photopic: subnormal; Goldmann perimetry: central scotoma right eye, paracentral scotoma left eye" "55y" "" "decrease in visual acuity" "" "" "" "" "" "macular dystrophy" "" "" "0000304957" "04214" "00412971" "00000" "Familial, autosomal recessive" "37y" "best corrected visual acuity right, left eye: 20/50, 20/200; spherical equivalent refraction: -1.25, -1.00; lens status: clear; electroretinogram, scotopic: severely reduced, photopic: severely reduced; Goldmann perimetry: central scotoma and visual field constriction (nasal>temporal)" "37y" "" "decrease in visual acuity / night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000304958" "04214" "00412972" "00000" "Familial, autosomal recessive" "18y" "best corrected visual acuity right, left eye: 20/28, 20/50; spherical equivalent refraction: -3.00, -2.00; lens status: clear; electroretinogram, scotopic: moderately reduced, photopic: moderately reduced; Goldmann perimetry: intact peripheral visual field" "14y" "" "decrease in visual acuity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000304959" "04214" "00412973" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000304960" "04214" "00412974" "00000" "Familial, autosomal recessive" "13y" "best corrected visual acuity right, left eye: 20/25, 20/22; spherical equivalent refraction: -2.13, -1.63; lens status: unknown; electroretinogram, scotopic: nonrecordable, photopic: severely reduced; Goldmann perimetry: constricted visual field to 10-15deg" "11y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304961" "04214" "00412975" "00000" "Familial, autosomal recessive" "22y" "best corrected visual acuity right, left eye: 20/67, 20/50; spherical equivalent refraction: -5.50, -5.25; lens status: congenital coronary cataract both eyes; electroretinogram, scotopic: severely reduced, photopic: severely reduced; Goldmann perimetry: constricted visual field <10deg" "10y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304962" "04214" "00412976" "00000" "Familial, autosomal recessive" "52y" "best corrected visual acuity right, left eye: light perception, light perception; spherical equivalent refraction: -9.00, -8.25; lens status: mild posterior subcapsular cataract, mild cortical and nuclear cataract; electroretinogram, scotopic: nonrecordable (46y), photopic: nonrecordable (46y); Goldmann perimetry: no visual field measurable" "5y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304963" "04214" "00412977" "00000" "Familial, autosomal dominant" "56y" "best corrected visual acuity right, left eye: 20/50, 20/50; spherical equivalent refraction: -9.38, -10.00; lens status: moderate nuclear cataract; extracted at 55y; electroretinogram, scotopic: nonrecordable (51y), photopic: nonrecordable (51y); Goldmann perimetry: constricted visual field to 10deg with a small temporal residue" "18y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304964" "04214" "00412978" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304965" "04214" "00412979" "00000" "Familial, autosomal dominant" "40y" "best corrected visual acuity right, left eye: 20/66, 20/40; spherical equivalent refraction: -5.75, -5.50; lens status: mild cataract; electroretinogram, scotopic: nonrecordable (36y), photopic: severely reduced (36y); Goldmann perimetry: constricted visual field to 10deg, with an inferonasal residue (right eye) and temporal residue (left eye)" "<18y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304966" "04214" "00412980" "00000" "Familial, autosomal dominant" "72y" "best corrected visual acuity right, left eye: 20/40, 20/63; spherical equivalent refraction: +1.5, +4.0; lens status: moderate nuclear cataract; extracted at 70y; electroretinogram, scotopic: nonrecordable (71y), photopic: nonrecordable (71y); Goldmann perimetry: constricted visual field to 15deg (right eye) and 20deg (left eye)" "40y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304967" "04214" "00412981" "00000" "Familial, autosomal dominant" "46y" "best corrected visual acuity right, left eye: 20/55, 20/46; spherical equivalent refraction: -4.00, -4.00; lens status: cataract extracted at 34y; electroretinogram, scotopic: nonrecordable, photopic: nonrecordable; Goldmann perimetry: constricted visual field to 5deg (right eye) and 3deg (left eye)" "25y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304968" "04214" "00412982" "00000" "Familial, autosomal dominant" "35y" "best corrected visual acuity right, left eye: 20/20, 20/20; spherical equivalent refraction: -1.25, -2.25; lens status: clear; electroretinogram, scotopic: not performed, photopic: not performed; Goldmann perimetry: constricted visual field <10deg" "25y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000304969" "04214" "00412983" "00000" "Familial, autosomal dominant" "40y" "best corrected visual acuity right, left eye: 20/20, 20/34; spherical equivalent refraction: -3.38, -3.38; lens status: clear ; electroretinogram, scotopic: nonrecordable, photopic: severely reduced; Goldmann perimetry: Humphrey field 30-2: central residue" "23y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305012" "04214" "00413031" "00000" "Familial, autosomal dominant" "" "patient phenotype: grossly delayed and reduced dark- and light-adapted full-field electroretinography despite visual acuity of 6/9 and 6/12 in right and left eyes, respectively, at the age of 38; full-field electroretinogram: essentially flat by the age 44y" "28y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000306195" "00198" "00414360" "00000" "Familial, autosomal dominant" "36y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 1" "" "" "0000311002" "04214" "00419722" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311651" "04214" "00420403" "00000" "Familial, autosomal dominant" "51y4m" "" "47y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000311744" "04214" "00420496" "00000" "Familial, autosomal dominant" "4y4m" "" "3y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000311777" "04214" "00420529" "00000" "Familial, autosomal dominant" "40y10m" "" "41y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311826" "04214" "00420578" "00000" "Familial, autosomal dominant" "48y4m" "" "45y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315283" "04214" "00424076" "00000" "Familial, autosomal recessive" "17y" "best corrected visual acuity right, left eye: 20/400, 20/100; retinography: macular retinal pigment epithelium alterations with a normal periphery; fundus autofluorescence: central hypofluorescence surrounded by a hyperfluorescent halo; optical coherence tomography: neurosensorial macular atrophy due to external retinal alte" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315284" "04214" "00424077" "00000" "Familial, autosomal recessive" "42y" "best corrected visual acuity right, left eye: 20/400, 20/400; retinography: central retinal pigment epithelium atrophy in the macula with areas of retinal pigment epithelium hyperplasia; fundus autofluorescence: central hypofluorescence due to geographic atrophy surrounded by a hyperfluorescence halo that extends nasally of the optic disc; optical coherence tomography: neurosensorial macular a" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315285" "04214" "00424078" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity right, left eye: 20/100, 20/65; retinography: central retinal pigment epithelium atrophy in the macula with areas of retinal pigment epithelium hyperplasia; fundus autofluorescence: central hypofluorescence due to geographic atrophy surrounded by a hyperfluorescence halo that extends nasally of the optic disc; optical coherence tomography: neurosensorial macular a" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315286" "04214" "00424079" "00000" "Familial, autosomal recessive" "20y" "best corrected visual acuity right, left eye: 20/400, 20/400; retinography: macular retinal pigment epithelium alterations that extend nasally of the optic disc; fundus autofluorescence: central hypofluorescence that does not preserve the peripapilar retinal pigment epithelium surrounded by a hyperfluorescent halo; optical coherence tomography: neurosensorial macular atrophy; full-field electroretinogramabnormal a-wave in both photopic and scotopic conditions. b-wave is within norma" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315287" "04214" "00424080" "00000" "Familial, autosomal recessive" "14y" "best corrected visual acuity right, left eye: 20/65, 20/40; retinography: macular retinal pigment epithelium alterations with a normal periphery, wrinkling of the internal limiting membrane; fundus autofluorescence: central hyperfluorescence surrounded by an hyperfluorescent halo; optical coherence tomography: neurosensorial macular atrophy; full-field electroretinogramabnormal a-wave in both photopic and scotopic conditions. b-wave is within norma" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315288" "04214" "00424081" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right, left eye: 20/200, 20/20; retinography: central retinal pigment epithelium atrophy; fundus autofluorescence: central hypofluorescence due to geographic atrophy surrounded by a hyperfluorescence halo that extends nasally of the optic disc; optical coherence tomography: neurosensorial macular a" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315289" "04214" "00424082" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right, left eye: 20/400, 20/400; retinography: central retinal pigment epithelium atrophy in the macula with areas of retinal pigment epithelium hyperplasia mimicking a macular coloboma; fundus autofluorescence: central hypofluorescence due to geographic atrophy surrounded by a hyperfluorescence halo that extends nasally of the optic disc; optical coherence tomography: macular coloboma with neurosensorial macular a" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315290" "04214" "00424083" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right, left eye: 20/400, 20/400; retinography: central retinal pigment epithelium atrophy in the macula with areas of retinal pigment epithelium hyperplasias; fundus autofluorescence: central hypofluorescence due to geographic atrophy surrounded by a hyperfluorescence halo; optical coherence tomography: neurosensorial macular atrophy; full-field electroretinogramnormal b-wave and lo" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315291" "04214" "00424084" "00000" "Familial, autosomal recessive" "23y" "best corrected visual acuity right, left eye: 20/25, 20/30; retinography: macular retinal pigment epithelium alterations with a normal periphery; fundus autofluorescence: macular hypoautofluorescence with central and perilesional hyperautofluorescence; optical coherence tomography: neurosensorial macular atrophy; full-field electroretinogramwithin normal limits in both photopic and scotopic co" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315292" "04214" "00424085" "00000" "Familial, autosomal recessive" "33y" "best corrected visual acuity right, left eye: 20/30, 20/400; retinography: macular retinal pigment epithelium alterations with no flecks (re), macular geographic atrophy; fundus autofluorescence: macular hypoautofluorescence with central and perilesional hyperautofluorescence; optical coherence tomography: neurosensorial macular" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315293" "04214" "00424086" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 20/40, 20/400; retinography: retinal pigment epithelium atrophy in the macular area, with no perimacular flecks; fundus autofluorescence: central hypofluorescence due to geographic atrophy surrounded by a hyperfluorescence halo that extends nasally of the optic disc; optical coherence tomography: neurosensorial macular" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315294" "04214" "00424087" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right, left eye: 20/200, 20/50; retinography: macular retinal pigment epithelium alterations with a normal periphery; fundus autofluorescence: macular hypoautofluorescence with perilesional hyperautofluorescence; optical coherence tomography: neurosensorial macular a" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315295" "04214" "00424088" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity right, left eye: 20/400, 20/400; retinography: macular retinal pigment epithelium atrophy with areas of retinal pigment epithelium hyperplasia; fundus autofluorescence: central hypofluorescence due to geographic atrophy surrounded by a hyperfluorescence halo; optical coherence tomography: neurosensorial macular a" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315296" "04214" "00424089" "00000" "Familial, autosomal recessive" "50y" "best corrected visual acuity right, left eye: LP, 20/200; retinography: diffuse retinal pigment epithelium alterations in the central and peripheral retina with bone spicules; fundus autofluorescence: diffuse hypoautofluorescence; optical coherence tomography: neurosensorial macular atr" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315297" "04214" "00424090" "00000" "Familial, autosomal recessive" "57y" "best corrected visual acuity right, left eye: LP, LP; retinography: diffuse retinal pigment epithelium alterations in the central and peripheral retina with bone spicules and macular atrophy; fundus autofluorescence: diffuse hypoautofluorescence; optical coherence tomography: neurosensorial macular atr" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315298" "04214" "00424091" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315299" "04214" "00424092" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity right, left eye: 20/400, 20/400; retinography: central retinal pigment epithelium atrophy with bone spicules in the periphery; fundus autofluorescence: central hypofluorescence due to geographic atrophy; optical coherence tomography: neurosensorial macular atrophy; full-field electroretinogramabolished photopic and scotopic respo" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315300" "04214" "00424093" "00000" "Familial, autosomal dominant" "72y" "best corrected visual acuity right, left eye: 20/400, 20/400; retinography: diffuse retinal pigment epithelium alterations in the central and peripheral retina with bone spicules; fundus autofluorescence: diffuse hypoautofluorescence; optical coherence tomography: neurosensorial macular atr" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315301" "04214" "00424094" "00000" "Familial, autosomal dominant" "43y" "best corrected visual acuity right, left eye: 20/20, 20/20; retinography: peripheral retinal pigment epithelium disturbance with some bone spicules; fundus autofluorescence: peripheral retinal pigment epithelium hypofluorescence, perimacular hyperfluorescent halo; optical coherence tomography: normal; full-field electroretinogramabolished photopic and scotopic res" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315302" "04214" "00424095" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315303" "04214" "00424096" "00000" "Familial, autosomal recessive" "63y" "medical and ophthalmological history: bilateral cataract surgery; revelant family history: progressive myopia and retinitis pigmentosa; symptoms at time of diagnosis: nyctalopia and reduced visual field; best corrected visual acuity right, left eye: light perception, light perception; fundus examination: narrowed blood vessels, bone spicules in the periphery and perifoveal pigmentation with atrophic macular ring" "" "16y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315304" "04214" "00424097" "00000" "Familial, autosomal recessive" "31y" "medical and ophthalmological history: glaucoma; revelant family history: Werding-Hoffmann Syndrome; symptoms at time of diagnosis: reduced visual acuity; best corrected visual acuity right, left eye: <20/400, <20/400; fundus examination: narrowed blood vessels, bone spicules in the periphery and perifoveal pigmentation with atrophic macular ring" "" "11y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315305" "04214" "00424098" "00000" "Familial, autosomal recessive" "14y" "medical and ophthalmological history: high myopia; revelant family history: none; symptoms at time of diagnosis: nyctalopia, reduced visual acuity and visual field; best corrected visual acuity right, left eye: 20/70, 20/20; fundus examination: narrowed blood vessels, little RPE changes in the periphery, little perifoveal pigmentation without atrophy, well coloured optic nerve head" "" "2y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315306" "04214" "00424099" "00000" "Familial, autosomal recessive" "30y" "medical and ophthalmological history: irritable bowel syndrome; revelant family history: none; symptoms at time of diagnosis: reduced visual acuity; best corrected visual acuity right, left eye: hand movement, light perception; fundus examination: narrowed blood vessels, bone spicules in the periphery and perifoveal pigmentation with atrophic macular ring" "" "6y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315307" "04214" "00424100" "00000" "Familial, autosomal recessive" "31y" "medical and ophthalmological history: left eye cataract surgery, intermittent exotropia, recent nystagmus; revelant family history: none; symptoms at time of diagnosis: nyctalopia and reduced visual field; best corrected visual acuity right, left eye: 20/200, <20/400; fundus examination: narrowed blood vessels, bone spicules in the periphery and perifoveal pigmentation with a sketch of atrophic macular ring" "" "10y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315308" "04214" "00424101" "00000" "Familial, autosomal recessive" "24y" "medical and ophthalmological history: myopia; revelant family history: none; symptoms at time of diagnosis: nyctalopia and reduced visual field; best corrected visual acuity right, left eye: counting fingers, 20/150; fundus examination: narrowed blood vessels, widespread RPE changes with bone spicules in the periphery, perifoveal pigmentation with macular atrophy, pale optic disc" "" "7y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315309" "04214" "00424102" "00000" "Familial, autosomal recessive" "28y" "medical and ophthalmological history: myopia; revelant family history: progressive myopia; symptoms at time of diagnosis: nyctalopia and reduced visual field; best corrected visual acuity right, left eye: 5/400, 5/400; fundus examination: narrowed blood vessels, little RPE changes in the periphery and perifoveal pigmentation with macular atrophy" "" "8y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315310" "04214" "00424103" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315311" "04214" "00424104" "00000" "Familial, autosomal recessive" "44y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315312" "04214" "00424105" "00000" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315313" "04214" "00424106" "00000" "Familial, autosomal recessive" "34y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315314" "04214" "00424107" "00000" "Familial, autosomal recessive" "48y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315315" "04214" "00424108" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 38 / --; visual acuity right eye first; last visit, left eye first; last visit20/100, --; CF, --; kinetic visual fields (V4e): not performed; full field electroretinography: rods: near-normal, cones: near-normal, normal timing" "30y" "" "nyctalopia (30), impaired vision (32)" "" "" "" "" "" "macular dystrophy" "" "" "0000315316" "04214" "00424109" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 37 /--; visual acuity right eye first; last visit, left eye first; last visit20/20, --; 20/30, --; kinetic visual fields (V4e): temporal scotomas; full field electroretinography: rods: 50% normal, cones: <15% normal" "25y" "" "impaired dark adaptation" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315317" "04214" "00424110" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 25 /--; visual acuity right eye first; last visit, left eye first; last visit20/100, --; 20/500, --; kinetic visual fields (V4e): 20deg; temporal crescents; full field electroretinography: rods: nondetectable, cones: severely depressed" "22y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315318" "04214" "00424111" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 30 /--; visual acuity right eye first; last visit, left eye first; last visit20/300, --; 20/300, --; kinetic visual fields (V4e): not performed; full field electroretinography: rods: ~50% normal, cones: ~50% normal" "20y" "" "impaired vision" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000315319" "04214" "00424112" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 46 / 48; visual acuity right eye first; last visit, left eye first; last visit20/60, 20/60; 20/20, 20/60; kinetic visual fields (V4e): central and pericentral ring scotomas; full field electroretinography: rods: nondetectable, cones: 20-35% normal" "30y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315320" "04214" "00424113" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 10 /--; visual acuity right eye first; last visit, left eye first; last visit20/40, --; 20/30, --; kinetic visual fields (V4e): 20deg; temporal crescents; full field electroretinography: rods (right eye only): nondetectable, cones (right eye): severely depressed" "4y" "" "nyctalopia, impaired peripheral vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315321" "04214" "00424114" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 22 /--; visual acuity right eye first; last visit, left eye first; last visit20/60, --; 20/70, --; kinetic visual fields (V4e): ~25deg; full field electroretinography: rods: nondetectable, cones: severely depressed" "7y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315322" "04214" "00424115" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 9 / 47; visual acuity right eye first; last visit, left eye first; last visit20/400b, LP; 20/50, LP; kinetic visual fields (V4e): 13y: V4e < 8deg; full field electroretinography: rods and cones: nondetectable" "4y" "" "nyctalopia, impaired peripheral vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315323" "04214" "00424116" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 13 / 56; visual acuity right eye first; last visit, left eye first; last visit20/30, LP; 20/30, LP; kinetic visual fields (V4e): 31y: ~18deg; temporal crescents; full field electroretinography: rods and cones: nondetectable" "5y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315324" "04214" "00424117" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 22 / 27; visual acuity right eye first; last visit, left eye first; last visit20/200, 20/150; 20/200, 20/150; kinetic visual fields (V4e): ~30deg; temporal crescents; full field electroretinography: rods: nondetectable, cones: severely depressed" "5y" "" "nyctalopia, impaired peripheral vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315325" "04214" "00424118" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 13 / 15; visual acuity right eye first; last visit, left eye first; last visit20/30, 20/40; 20/40, 20/40; kinetic visual fields (V4e): <=20deg; full field electroretinography: not performed" "4y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315326" "04214" "00424119" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 28 / 36; visual acuity right eye first; last visit, left eye first; last visit20/20, 20/20; 20/20, 20/20; kinetic visual fields (V4e): superior constriction; full field electroretinography: rods: nondetectable, cones: 25% normal" "28y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315327" "04214" "00424120" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 30 / 45; visual acuity right eye first; last visit, left eye first; last visitn/a, 20/1000 n/a, 20/30; kinetic visual fields (V4e): 35y: ~15deg; inferior crescents; full field electroretinography: rods: nondetectable, cones: severely depressed" "27y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315328" "04214" "00424121" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 10 / 14; visual acuity right eye first; last visit, left eye first; last visit20/40, 20/50; 20/50, 20/80; kinetic visual fields (V4e): I4e 5-10deg; V4e full; full field electroretinography: rods: nondetectable, cones: severely depressed" "6y" "" "nyctalopia" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000315329" "04214" "00424122" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 18 / 22; visual acuity right eye first; last visit, left eye first; last visit20/25, 20/25; 20/30, 20/25; kinetic visual fields (V4e): central scotoma through I3e both eyes; V4e full; full field electroretinography: rods: nondetectable, cones: severely depressed" "12y" "" "nyctalopia" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000315330" "04214" "00424123" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 15 / 19; visual acuity right eye first; last visit, left eye first; last visit20/20, 20/40; 20/20, 20/30; kinetic visual fields (V4e): 16y: central scotoma through I3e; V4e full; full field electroretinography: rods: 50-60% normal, cones: < 40% normal" "13y" "" "impaired vision" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000315331" "04214" "00424124" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 13 / --; visual acuity right eye first; last visit, left eye first; last visit20/20, --; 20/20, --; kinetic visual fields (V4e): I4e ~ 10deg; V4e full; full field electroretinography: rods: nondetectable, cones: severely depressed" "10y" "" "nyctalopia" "" "" "" "" "" "early-onset severe retinal dystrophy" "" "" "0000315332" "04214" "00424125" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 20 / 27; visual acuity right eye first; last visit, left eye first; last visit20/30, n/a; 20/30, n/a; kinetic visual fields (V4e): not available; full field electroretinography: rods: nondetectable, cones: severely depressed" "15y" "" "not available" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315333" "04214" "00424126" "00000" "Familial, autosomal recessive" "" "age, first / last exam: 37; visual acuity right eye first; last visit, left eye first; last visitn/a; kinetic visual fields (V4e): central scotomas contiguous with superior peripheral loss; full field electroretinography: rods: nondetectable, cones: severely depressed" "16y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315336" "04214" "00424138" "00000" "Familial, autosomal recessive" "34y" "age at initial visit (years): 21; first visit: best corrected visual acuity right/left eye: 0.8/0.8; visual field at initial visit: central island; electroretinogram: not detectable; age at final visit (years): 34; final visit: best corrected visual acuity right/left eye: light perception/0.01; adaptive optics ���nidngs: no photoreceptor island/photorecepto" "6y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315337" "04214" "00424139" "00000" "Familial, autosomal recessive" "33y" "age at initial visit (years): 27; first visit: best corrected visual acuity right/left eye: 0.6/0.6; visual field at initial visit: central island; electroretinogram: not available; age at final visit (years): 33; final visit: best corrected visual acuity right/left eye: 0.6/0.4; adaptive optics ���nidngs: not a" "6y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315338" "04214" "00424140" "00000" "Familial, autosomal recessive" "19y" "age at initial visit (years): 12; first visit: best corrected visual acuity right/left eye: 0.6/0.7; visual field at initial visit: paracentral scotoma, peripheral constriction; electroretinogram: not detectable; age at final visit (years): 19; final visit: best corrected visual acuity right/left eye: 0.04/0.2; adaptive optics ���nidngs: low" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315339" "04214" "00424141" "00000" "Familial, autosomal recessive" "22y" "age at initial visit (years): 14; first visit: best corrected visual acuity right/left eye: 0.9/0.9; visual field at initial visit: paracentral scotoma, peripheral constriction; electroretinogram: not detectable; age at final visit (years): 22; final visit: best corrected visual acuity right/left eye: 0.5/0.5; adaptive optics ���nidngs: photoreceptor island/photorecepto" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315340" "04214" "00424142" "00000" "Familial, autosomal recessive" "39y" "age at initial visit (years): 25; first visit: best corrected visual acuity right/left eye: 0.4/0.5; visual field at initial visit: paracentral scotoma, peripheral constriction; electroretinogram: Severely reduced; age at final visit (years): 39; final visit: best corrected visual acuity right/left eye: 0.05/0.2; adaptive optics ���nidngs: photoreceptor island/no photorecepto" "6y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315341" "04214" "00424143" "00000" "Familial, autosomal recessive" "32y" "age at initial visit (years): 15; first visit: best corrected visual acuity right/left eye: 0.6/0.5; visual field at initial visit: central island; electroretinogram: not detectable; age at final visit (years): 32; final visit: best corrected visual acuity right/left eye: hand motion/0.1; adaptive optics ���nidngs: photoreceptor island/photorecepto" "6y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315342" "04214" "00424144" "00000" "Familial, autosomal recessive" "36y" "age at initial visit (years): 8; first visit: best corrected visual acuity right/left eye: 0.8/0.8; visual field at initial visit: paracentral scotoma, peripheral constriction; electroretinogram: not detectable; age at final visit (years): 36; final visit: best corrected visual acuity right/left eye: hand motion/0.5; adaptive optics ���nidngs: no photoreceptor island/photorecepto" "6y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315343" "04214" "00424145" "00000" "Familial, autosomal recessive" "26y" "age at initial visit (years): 20; first visit: best corrected visual acuity right/left eye: 1/1; visual field at initial visit: paracentral scotoma; electroretinogram: Reduced; age at final visit (years): 26; final visit: best corrected visual acuity right/left eye: 0.8/0.6; adaptive optics ���nidngs: cone mosaic/con" "15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315344" "04214" "00424146" "00000" "Familial, autosomal recessive" "30y" "age at initial visit (years): 19; first visit: best corrected visual acuity right/left eye: 0.4/0.7; visual field at initial visit: paracentral scotoma, peripheral constriction; electroretinogram: not detectable; age at final visit (years): 30; final visit: best corrected visual acuity right/left eye: hand motion/0.02; adaptive optics ���nidngs: no photoreceptor island/photorecepto" "6y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315345" "04214" "00424150" "00000" "Familial, autosomal recessive" "18y" "best corrected visual acuity right, left eye: 20/250, 20/800; refraction spherical equivalent right, left eye: -2.75 , -2.25; fundus autofluorescencecentral hypofluorescence with peripheral patchy-like hypofluorescence" "10y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000315346" "04214" "00424151" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity right, left eye: 20/250, 20/200; refraction spherical equivalent right, left eye: -5.50 , -5.00; fundus autofluorescencecentral hypofluorescence surrounded by a hyperfluorescent halo" "11y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000315347" "04214" "00424152" "00000" "Familial, autosomal recessive" "42y" "best corrected visual acuity right, left eye: 20/100, 20/50; refraction spherical equivalent right, left eye: -7.25 , -6.25; fundus autofluorescencenot available" "18y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000315348" "04214" "00424153" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right, left eye: 20/200, 20/100; refraction spherical equivalent right, left eye: -7.50 , -7.25; fundus autofluorescencecentral hypofluorescence surrounded by a hyperfluorescence halo that extends nasally of the optic disc" "20y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000315349" "04214" "00424154" "00000" "Familial, autosomal recessive" "20y" "best corrected visual acuity right, left eye: hand motion, counting fingers; refraction spherical equivalent right, left eye: -2.50 , -1.75; fundus autofluorescencecentral hypofluorescence with peripheral patchy-like hypofluorescence" "7y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000315377" "04214" "00424182" "00000" "Familial, autosomal dominant" "39y" "best corrected visual acuity right/left eye: 1.2 / 1.5; fundus photographs: slightly retinal degeneration around arcade vessels; fundus autofluorescence imaging or fluorescein angiography: not done; optical coherence tomography: no abnormalities of outer retinal layers at fovea and disruption of almost all outer retinal layers at other area; central visual field: ring-shaped scotoma; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: nonrecordable DA3.0: nonrecordable DA10.0: not done DA200.0: not done LA3.0: nonrecordable 30hz flicker: nonrecordable" "18y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315378" "04214" "00424183" "00000" "Familial, autosomal dominant" "53y" "best corrected visual acuity right/left eye: 0.6 / 0.6; fundus photographs: retinal degeneration with pigmentation around arcade vessels; fundus autofluorescence imaging or fluorescein angiography: normal appearance around macular and hypoautofluorescence corresponding with retinal degeneration and pigmention; optical coherence tomography: no abnormalities of outer retinal layers except for temporal retina and cystoid change at inner retinal layer; central visual field: 10 degrees by V-4e isopter; peripheral visual field: none; full-filed electroretinogram (DA-dark adapted, LA-light adapted): not done" "37y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315379" "04214" "00424184" "00000" "Familial, autosomal dominant" "54y" "best corrected visual acuity right/left eye: 1.0 / 1.5; fundus photographs: normal appearance; fundus autofluorescence imaging or fluorescein angiography: hyper-fluorescence around arcade vessels; optical coherence tomography: no abnormalities of outer retinal layers except temporal retina; central visual field: isorated paracentral scotoma within 20 degrees; peripheral visual field: preserved; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: nonrecordable DA3.0: not done DA10.0: normal a-wave and decreased b-wave DA200.0: not done LA3.0: decreased a and b-waves 30hz flicker: decreased b-wave" "53y" "" "anorthopia" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315380" "04214" "00424185" "00000" "Familial, autosomal dominant" "62y" "best corrected visual acuity right/left eye: 1.0 / 1.0; fundus photographs: retinal degeneration at inferior arcade vessel; fundus autofluorescence imaging or fluorescein angiography: hyperautofluorescence wtihin arcade vessels with hypoautofluorescence around the area; optical coherence tomography: no abnormalities of outer retinal layers except for nasal retina; central visual field: ring-shaped scotoma; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: severely decreased DA3.0: severely decreased a- and b-waves DA10.0: not done DA200.0: severely decreased a- and b-waves LA3.0: severely decreased a- and b-waves 30hz flicker: severely decreased b-wave" "" "" "peripheral visual field defect" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315381" "04214" "00424186" "00000" "Familial, autosomal dominant" "40y" "best corrected visual acuity right/left eye: 1.2 / 1.2; fundus photographs: slightly retinal degeneration around arcade vessels; fundus autofluorescence imaging or fluorescein angiography: ring of hyperautofluorescence at macular and hypoautofluorescence at nasal retina; optical coherence tomography: no abnormalities of outer retinal layers except for nasal and temoral retina; central visual field: isorated paracentral scotoma within 20 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: severely decreased DA3.0: severely decreased a- and b-waves DA10.0: not done DA200.0: not done LA3.0: severely decreased a- and b-waves 30hz flicker: severely decreased b-wave" "32y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315382" "04214" "00424187" "00000" "Familial, autosomal recessive" "30y" "best corrected visual acuity right/left eye: 0.2 / 0.4; fundus photographs: retinal degeneration without pigmentation at posterior pole including fovea; fundus autofluorescence imaging or fluorescein angiography: diffusely hyper-fluorescence at posterior pole including fovea; optical coherence tomography: not done; central visual field: constricted central visual field by I-3e isopter within 5 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): fLAsh: nonrecordable" "12y" "" "decreased visual acuity" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315383" "04214" "00424188" "00000" "Familial, autosomal recessive" "29y" "best corrected visual acuity right/left eye: 0.4 / 0.3; fundus photographs: severely retinal degeneation with pigmentation at posterior pole including fovea; fundus autofluorescence imaging or fluorescein angiography: diffusely hypo-fluorescence patchy within macular and hyper-fluorescence around the area; optical coherence tomography: not done; central visual field: constricted central visual field by I-4e isopter within 5 degrees; peripheral visual field: none; full-filed electroretinogram (DA-dark adapted, LA-light adapted): not done" "10y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315384" "04214" "00424189" "00000" "Familial, autosomal recessive" "12y" "best corrected visual acuity right/left eye: 0.5 / 0.07; fundus photographs: not done; fundus autofluorescence imaging or fluorescein angiography: not done; optical coherence tomography: not done; central visual field: constricted central visual field by I-3e isopter within 5 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): not done" "12y" "" "decreased visual acuity" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315385" "04214" "00424190" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right/left eye: 0.3 / 0.4; fundus photographs: severely retinal degeneation with pigmentation at posterior pole including fovea; fundus autofluorescence imaging or fluorescein angiography: difussely hypoautofluorescence at posterior pole and hyperautofluorescence at fovea; optical coherence tomography: disruption of almost all outer retinal layers including ellipsoid zone at macular; central visual field: constricted central visual field by I-4e isopter within 5 degrees; peripheral visual field: none; full-filed electroretinogram (DA-dark adapted, LA-light adapted): fLAsh: nonrecordable" "4y" "" "decreased visual acuity" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315386" "04214" "00424191" "00000" "Familial, autosomal recessive" "7y" "best corrected visual acuity right/left eye: 0.8 / 0.8; fundus photographs: slightly retinal degeneration without pigmentation from arcade vessels to peripheral retina; fundus autofluorescence imaging or fluorescein angiography: hyperautofluorescence at macular and hypoautofluorescence at peripheral retina; optical coherence tomography: blurred ellipsoid zone at fovea and disruption of almost all outer retinal layers at other area; central visual field: constricted central visual field by I-1e isopter within 5 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): not done" "7y" "" "peripheral visual field defect" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315387" "04214" "00424192" "00000" "Familial, autosomal recessive" "11y" "best corrected visual acuity right/left eye: 0.8 / 0.7; fundus photographs: slightly retinal degeneration with pigmentation from mid peripheral retina to peripheral retina; fundus autofluorescence imaging or fluorescein angiography: hyperautofluorescence at macular and hypoautofluorescence around the area and at peripheral retina; optical coherence tomography: blurred ellipsoid zone at fovea and disruption of almost all outer retinal layers at other area; central visual field: constricted central visual field by I-2e isopter within 5 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA3.0: nonrecordable DA200.0: nonrecordable" "6y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315388" "04214" "00424193" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right/left eye: hand motion / light perception; fundus photographs: severely retinal degeneation with pigmentation at posterior pole including fovea; fundus autofluorescence imaging or fluorescein angiography: difussely hypoautofluorescence at posterior pole including fovea; optical coherence tomography: disruption of almost all outer retinal layers including ellipsoid zone at macular; central visual field: none; peripheral visual field: small island at temporal; full-filed electroretinogram (DA-dark adapted, LA-light adapted): not done" "4y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315389" "04214" "00424194" "00000" "Familial, autosomal recessive" "6y" "best corrected visual acuity right/left eye: 0.7 / 0.6; fundus photographs: slightly retinal degeneration without pigmentation from arcade vessels to peripheral retina; fundus autofluorescence imaging or fluorescein angiography: hyperautofluorescence within arcade vessels including macular; optical coherence tomography: blurred ellipsoid zone at fovea and disruption of almost all outer retinal layers at other area; central visual field: constricted central visual field by I-2e isopter within 5 degrees; peripheral visual field: none; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: nonrecordable DA3.0: nonrecordable DA10.0: not done DA200.0: not done LA3.0: nonrecordable 30hz flicker: nonrecordable" "3y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315390" "04214" "00424195" "00000" "Familial, autosomal recessive" "10y" "best corrected visual acuity right/left eye: 1.0 / 1.0; fundus photographs: retinal degeneration without pigmentation around arcade vessels and macular; fundus autofluorescence imaging or fluorescein angiography: hyperautofluorescence at macular and hypoautofluorescence at peripheral retina; optical coherence tomography: blurred ellipsoid zone at fovea and disruption of almost all outer retinal layers at other area; central visual field: constricted central visual field by I-2e isopter within 5 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: nonrecordable DA3.0: nonrecordable DA10.0: not done DA200.0: not done LA3.0: nonrecordable 30hz flicker: nonrecordable" "6y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315391" "04214" "00424196" "00000" "Familial, autosomal recessive" "19y" "best corrected visual acuity right/left eye: 0.4 / 0.5; fundus photographs: retinal degeneration without pigmentation around arcade vessel and macular; fundus autofluorescence imaging or fluorescein angiography: not done; optical coherence tomography: disruption of almost all outer retinal layers including ellipsoid zone at macular; central visual field: constricted central visual field by I-3e isopter within 5 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA200.0: severely decreased a- and b-waves" "5y" "" "decreased visual acuity" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315392" "04214" "00424197" "00000" "Familial, autosomal recessive" "10y" "best corrected visual acuity right/left eye: 0.9 / 0.9; fundus photographs: slightly retinal degeneration without pigmentation around arcade vessels; fundus autofluorescence imaging or fluorescein angiography: hyperautofluorescence at macular; optical coherence tomography: blurred ellipsoid zone at fovea and disruption of almost all outer retinal layers at other area; central visual field: constricted central visual field by I-1e isopter within 5 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA200.0: severely decreased a- and b-waves" "9y" "" "decreased visual acuity" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315393" "04214" "00424198" "00000" "Familial, autosomal recessive" "20y" "best corrected visual acuity right/left eye: 0.4 / 0.3; fundus photographs: retinal degeneration without pigmentation around arcade vessel and macular; fundus autofluorescence imaging or fluorescein angiography: not done; optical coherence tomography: not done; central visual field: constricted central visual field by I-4e isopter within 5 degrees; peripheral visual field: none; full-filed electroretinogram (DA-dark adapted, LA-light adapted): fLAsh: nonrecordable" "6y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315394" "04214" "00424199" "00000" "Familial, autosomal recessive" "52y" "best corrected visual acuity right/left eye: hand motion / 0.02; fundus photographs: severely retinal degeneation with pigmentation at posterior pole including fovea; fundus autofluorescence imaging or fluorescein angiography: not done; optical coherence tomography: disruption of almost all outer retinal layers including ellipsoid zone at macular; central visual field: constricted central visual field by V-4e isopter within 5 degrees; peripheral visual field: none; full-filed electroretinogram (DA-dark adapted, LA-light adapted): not done" "6y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315395" "04214" "00424200" "00000" "Familial, autosomal recessive" "57y" "57y: best corrected visual acuity right/left eye: 0.9 / 0.7; fundus photographs: macular atrophy with foveal sparing and retinal atrophy around optic disc; fundus autofluorescence imaging or fluorescein angiography: hypo-fluorescence at macular with hyperfluorescence around the area; optical coherence tomography: visible ourter retinal layers and retinal pigment epithelium corresponding with fovea and disruption of almost all outer retinal layers and thinning of retinal pigment epithelium at other area; central visual field: ring-shaped scotoma within 20 degrees with preserved central sensitvity within 2 degrees; peripheral visual field: preserved; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: normal b-wave DA3.0: decreased a and normal b-waves DA10.0: not done DA200.0: not done LA3.0: severely decreased a- and b-waves 30hz flicker: severely decreased b-wave; 67y: best corrected visual acuity right/left eye: 0.15 / 0.05; fundus photographs: macular atrophy without foveal sparing and extension of retinal atrophy to peripheral retina; fundus autofluorescence imaging or fluorescein angiography: hypoautofluorescence within arcade vessels and peripheral retina corresponding with retinal atrophy area; optical coherence tomography: disruption of almost all outer retinal layers and a thinning retinal pigment epithelium at macular; central visual field: absolute central scotoma within 30 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: nonrecordable DA3.0: severely decreased a and b-waves DA10.0: severely decreased a and b-waves DA200.0: severely decreased a and b-waves LA3.0: severely decreased a- and b-waves 30hz flicker: severely decreased b-wave" "40y" "" "decreased visual acuity" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "" "0000315396" "04214" "00424201" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity right/left eye: 0.9 / 0.7; fundus photographs: macular atrophy with foveal sparing and normal appearance at peripheral retina; fundus autofluorescence imaging or fluorescein angiography: normal appearance at fovea and hyperautofluorescence around the area; optical coherence tomography: blurred ellipsoid zone and preserved retinal pigment epithelium at fovea and disruption of almost all outer retinal layers and a thinning retinal pigment epithelium corresponding with macular atrophy; central visual field: ring-shaped scotoma within 20 degrees with preserved central sensitvity within 2 degrees; peripheral visual field: preserved; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: normal DA3.0: decreased a and b-waves DA10.0: not done DA200.0: decreased a and b-waves LA3.0: severely decreased a and b-waves 30hz flicker: severely decreased b-wave" "45y" "" "photophobia" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "" "0000315397" "04214" "00424202" "00000" "Familial, autosomal recessive" "68y" "best corrected visual acuity right/left eye: 0.5 / 0.5; fundus photographs: macular atrophy with foveal sparing; fundus autofluorescence imaging or fluorescein angiography: hyperautofluorescence at fovea and hypoautofluorescence around the area; optical coherence tomography: blurred ellipsoid zone and preserved retinal pigment epithelium at fovea and disruption of almost all outer retinal layers and a thinning retinal pigment epithelium corresponding with macular atrophy; central visual field: ring-shaped relative scotoma within 20 degrees; peripheral visual field: preserved; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: decreased b-wave DA3.0: not done DA10.0: not done DA200.0: decreased a and b-waves LA3.0: severely decreased a and b-waves 30hz flicker: severely decreased b-wave" "65y" "" "decreased visual acuity" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "" "0000315398" "04214" "00424203" "00000" "Familial, autosomal recessive" "46y" "best corrected visual acuity right/left eye: 1.5 / 1.2; fundus photographs: macular degeneration except for fovea; fundus autofluorescence imaging or fluorescein angiography: normal appearance at fovea and hyperautofluorescence and hypoautofluorescence around the area; optical coherence tomography: preserved ellipsoid zone and retinal pigment epithelium at fovea and disruption of almost all outer retinal layers and a thinning retinal pigment epithelium corresponding with macular atrophy; central visual field: ring-shaped scotoma within 10 degrees with preserved central sensitvity within 5 degrees; peripheral visual field: preserved; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: normal DA3.0: normal DA10.0: not done DA200.0: normal LA3.0: lower limit of normal range 30hz flicker: lower limit of normal range" "46y" "" "photophobia" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "" "0000315399" "04214" "00424204" "00000" "Familial, autosomal recessive" "35y" "best corrected visual acuity right/left eye: 0.8 / 1.2; fundus photographs: macular degeneration except for fovea; fundus autofluorescence imaging or fluorescein angiography: normal appearance at fovea and hyperautofluorescence around the area; optical coherence tomography: blurred ellipsoid zone and preserved retinal pigment epithelium at fovea and disruption of almost all outer retinal layers and a thinning retinal pigment epithelium corresponding with macular atrophy; central visual field: isorated paracentral scotoma within 10 degrees; peripheral visual field: preserved; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: normal DA3.0: lower limit o normal range DA10.0: lower limit o normal range DA200.0: not done LA3.0: normal 30hz flicker: normal" "34y" "" "decreased visual acuity" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "" "0000315400" "04214" "00424205" "00000" "Familial, autosomal recessive" "52y" "best corrected visual acuity right/left eye: 0.4 / 0.4; fundus photographs: macular degeneration except for fovea; fundus autofluorescence imaging or fluorescein angiography: hyperautofluorescence at macular except for fovea; optical coherence tomography: preserved ellipsoid zone and retinal pigment epithelium at fovea and disruption of almost all outer retinal layers and a thinning retinal pigment epithelium corresponding with macular atrophy; central visual field: arcuate paracentral scotoma within 20 degrees; peripheral visual field: constricted; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: decreased b-wave DA3.0: decreased a and b-waves DA10.0: not done DA200.0: not done LA3.0: severely decreased a and b-waves 30hz flicker: severely decreased b-wave" "50y" "" "decreased visual acuity" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "" "0000315401" "04214" "00424206" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity right/left eye: 0.8 / 0.6; fundus photographs: macular degeneration including fovea; fundus autofluorescence imaging or fluorescein angiography: speckled hyper and hypoautofluorescence at macular with hyperautofluorescence around the area; optical coherence tomography: blurred external limiting membrane and disruption of ellipsoid zone at fovea and disruption of almost all outer retinal layers and a thinning retinal pigment epithelium corresponding with macular degeneration; central visual field: relative central scotma within 20 degrees; peripheral visual field: preserved; full-filed electroretinogram (DA-dark adapted, LA-light adapted): DA0.01: normal DA3.0: normal DA10.0: not done DA200.0: not done LA3.0: decreased a and b-waves 30hz flicker: decreased b-wave" "40y" "" "decreased visual acuity" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "" "0000315402" "04214" "00424207" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000315403" "04214" "00424208" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000318080" "04214" "00426942" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000320365" "00112" "00429493" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320381" "00112" "00429509" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320392" "00112" "00429520" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320421" "00112" "00429549" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320422" "00112" "00429550" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320462" "00112" "00429590" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320466" "00112" "00429594" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320486" "00112" "00429614" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320500" "00112" "00429628" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320516" "00112" "00429644" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320521" "00112" "00429649" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320539" "00112" "00429667" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320540" "00112" "00429668" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320566" "00112" "00429694" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320660" "00112" "00429788" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320719" "00112" "00429847" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320769" "00112" "00429897" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320771" "00112" "00429899" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320786" "00112" "00429914" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320795" "04210" "00429923" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320797" "00112" "00429925" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320860" "04210" "00429988" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320869" "00112" "00429997" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320895" "00112" "00430023" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320910" "00112" "00430038" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320911" "00112" "00430039" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320935" "00112" "00430063" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320958" "00112" "00430086" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320983" "00112" "00430111" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333562" "04214" "00444309" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336135" "00198" "00446936" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336136" "00198" "00446937" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336137" "00198" "00446938" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336161" "00198" "00446962" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336173" "00198" "00446974" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336174" "00198" "00446975" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336196" "00198" "00446997" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336204" "00198" "00447005" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336214" "00198" "00447015" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336215" "00198" "00447016" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336220" "00198" "00447021" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336454" "00198" "00447255" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336476" "00198" "00447277" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336488" "00198" "00447289" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336500" "00198" "00447301" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336505" "00198" "00447306" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336677" "00198" "00447478" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336726" "00198" "00447527" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336743" "00198" "00447544" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336781" "00198" "00447582" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336819" "00198" "00447620" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336821" "00198" "00447622" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336848" "00198" "00447649" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336912" "00198" "00447713" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000339046" "04214" "00449986" "02230" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RP1" "retinal disease" "" "0000340039" "04249" "00450984" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340040" "04249" "00450985" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1183 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000032930" "00032862" "1" "00228" "00228" "2011-09-28 11:35:59" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032931" "00032863" "1" "00228" "00228" "2011-09-28 11:58:35" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032932" "00032864" "1" "00228" "00228" "2011-09-28 13:05:48" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032933" "00032865" "1" "00228" "00228" "2011-09-28 13:39:01" "00006" "2012-05-18 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"00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336381" "00335152" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336382" "00335153" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336511" "00335282" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336512" "00335283" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336539" "00335310" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336570" "00335341" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336616" "00335387" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336647" "00335418" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336783" "00335555" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "" "0000336784" "00335556" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "" "0000336785" "00335557" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "" "0000336786" "00335558" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ" "DNA" "" "" "0000336787" "00335559" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "arraySNP;SEQ" "DNA" "" "" "0000336788" "00335560" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "arraySNP;SEQ" "DNA" "" "" "0000336789" "00335561" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "" "0000336790" "00335562" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "" "0000336791" "00335563" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "" "0000336940" "00335712" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336941" "00335713" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336942" "00335714" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336943" "00335715" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336944" "00335716" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000359967" "00358737" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359968" "00358738" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359969" "00358739" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359970" "00358740" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359992" "00358762" "1" "00000" "00006" "2021-03-11 17:30:37" "00006" "2021-03-12 08:25:00" "SEQ-NG" "DNA" "" "WES" "0000360002" "00358772" "1" "00000" "00006" "2021-03-11 17:30:37" "00006" "2021-03-12 08:27:45" "SEQ-NG" "DNA" "" "WES" "0000360018" "00358788" "1" "00000" "00006" "2021-03-12 09:26:03" "" "" "SEQ-NG" "DNA" "" "226-gene panel" "0000360165" "00358932" "1" "00000" "00006" "2021-03-17 15:00:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000360166" "00358933" "1" "00000" "00006" "2021-03-17 15:00:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000360195" "00358958" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360196" "00358959" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360197" "00358960" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360198" "00358961" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360201" "00358964" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360343" "00359105" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360346" "00359108" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360357" "00359119" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360383" "00359145" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360390" "00359152" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360429" "00359191" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360441" "00359203" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360451" "00359213" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360456" "00359218" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360461" "00359223" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360561" "00359320" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000360562" "00359321" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000360563" "00359322" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000360617" "00359375" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel" "0000363419" "00362190" "1" "00000" "00006" "2021-04-15 17:02:42" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000363420" "00362191" "1" "00000" "00006" "2021-04-15 17:02:42" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364114" "00362886" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000364117" "00362889" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364749" "00363521" "1" "00000" "00006" "2021-04-29 12:09:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364819" "00363591" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364820" "00363592" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364823" "00363595" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364903" "00363675" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364933" "00363705" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364968" "00363740" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365112" "00363884" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000365113" "00363885" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000373305" "00372077" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "SEQ-NG" "DNA" "" "53-gene panel" "0000373307" "00372079" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "SEQ-NG" "DNA" "" "53-gene panel" "0000373882" "00372650" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373883" "00372651" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373905" "00372673" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373908" "00372676" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373915" "00372683" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373930" "00372698" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373947" "00372715" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373948" "00372716" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373959" "00372727" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373964" "00372732" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373966" "00372734" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374606" "00373371" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX" "0000374704" "00373469" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000374705" "00373470" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000374706" "00373471" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000374711" "00373476" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000374735" "00373500" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000375043" "00373811" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "arraySEQ" "DNA" "" "Asper" "0000375054" "00373822" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "SEQ-NG" "DNA" "" "" "0000375055" "00373823" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "SEQ-NG" "DNA" "" "" "0000375056" "00373824" "1" "00006" "00006" "2021-05-21 12:29:13" "" "" "SEQ" "DNA" "" "" "0000375068" "00373836" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000376093" "00374899" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376099" "00374905" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376101" "00374907" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376504" "00375307" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376505" "00375308" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376537" "00375340" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376609" "00375412" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376612" "00375415" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376619" "00375422" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376632" "00375435" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376643" "00375446" "1" "00000" "00006" "2021-06-04 11:16:10" "" "" "SEQ-NG" "DNA" "" "162-gene panel" "0000376649" "00375452" "1" "00000" "00006" "2021-06-04 11:36:57" "" "" "SEQ-NG" "DNA" "" "179-gene panel" "0000377971" "00376765" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377973" "00376767" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377986" "00376780" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377987" "00376781" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378439" "00377234" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378476" "00377271" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378672" "00377469" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378673" "00377470" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378674" "00377471" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378675" "00377472" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378676" "00377473" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378677" "00377474" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378678" "00377475" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378679" "00377476" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378680" "00377477" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378681" "00377478" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378682" "00377479" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378936" "00377732" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "Lymphoblast" "" "0000379233" "00378032" "1" "03508" "03508" "2021-08-03 09:40:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000379263" "00378062" "1" "03508" "03508" "2021-08-04 07:54:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000380596" "00379396" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "PCR;SEQ; arraySNP" "DNA" "blood" "" "0000380599" "00379399" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "arraySEQ;PCR;SEQ" "DNA" "blood" "" "0000380740" "00379540" "1" "03508" "03508" "2021-08-05 08:24:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000380741" "00379541" "1" "03508" "03508" "2021-08-05 08:28:46" "03508" "2021-08-05 09:10:26" "SEQ-NG-IT" "DNA" "" "" "0000380754" "00379555" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000380810" "00379611" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "arraySNP" "DNA" "blood" "adRP genotyping microarray" "0000380811" "00379612" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "arraySNP" "DNA" "blood" "adRP genotyping microarray" "0000380812" "00379613" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "arraySNP" "DNA" "blood" "adRP genotyping microarray" "0000380838" "00379640" "1" "03508" "03508" "2021-08-06 05:00:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000380854" "00379654" "1" "03508" "03508" "2021-08-06 07:21:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000380882" "00379681" "1" "03508" "03508" "2021-08-06 10:09:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000380883" "00379682" "1" "03508" "03508" "2021-08-06 10:12:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000380889" "00379687" "1" "03508" "03508" "2021-08-06 10:31:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000381078" "00379876" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381079" "00379877" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381080" "00379878" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381296" "00380094" "1" "03508" "03508" "2021-08-10 09:27:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000381353" "00380151" "1" "03508" "03508" "2021-08-10 10:00:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000381358" "00380156" "1" "03508" "03508" "2021-08-10 10:47:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000381359" "00380157" "1" "03508" "03508" "2021-08-10 10:53:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000381365" "00380163" "1" "03508" "03508" "2021-08-10 11:15:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000381402" "00380200" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381404" "00380202" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381427" "00379681" "1" "03508" "03508" "2021-08-13 04:46:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000381436" "00380151" "1" "03508" "03508" "2021-08-13 05:45:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000381470" "00380256" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "PCR" "DNA" "blood" "" "0000381476" "00380262" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "PCR" "DNA" "blood" "" "0000381534" "00380320" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381535" "00380321" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381536" "00380322" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381537" "00380323" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381538" "00380324" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381539" "00380325" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381540" "00380326" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381589" "00380375" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "PCR" "DNA" "blood" "" "0000381593" "00380379" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "PCR" "DNA" "blood" "" "0000382129" "00380915" "1" "00000" "03840" "2021-08-23 13:21:22" "" "" "SEQ-NG" "DNA" "blood" "" "0000382131" "00380917" "1" "00000" "03840" "2021-08-23 13:21:22" "" "" "SEQ" "DNA" "blood" "" "0000382259" "00381045" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382390" "00381175" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "Exome Sequencing" "0000382824" "00381608" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382825" "00381609" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382826" "00381610" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382827" "00381611" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382832" "00381616" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382843" "00381627" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382864" "00381648" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382868" "00381652" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382873" "00381657" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382887" "00381671" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382906" "00381690" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382975" "00381759" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382976" "00381760" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382977" "00381761" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382978" "00381762" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382979" "00381763" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382980" "00381764" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382981" "00381765" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382982" "00381766" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383013" "00381797" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000383014" "00381798" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000383016" "00381800" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR" "DNA" "blood" "" "0000383017" "00381801" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR" "DNA" "blood" "" "0000383018" "00381802" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR" "DNA" "blood" "" "0000383019" "00381803" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR" "DNA" "blood" "" "0000383020" "00381804" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR" "DNA" "blood" "" "0000383026" "00381810" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383104" "00381888" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ" "DNA" "blood" "" "0000383409" "00382195" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383410" "00382196" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-S" "DNA" "blood" "105 gene panel, see paper" "0000383411" "00382197" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383412" "00382198" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383413" "00382199" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383414" "00382200" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383415" "00382201" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383416" "00382202" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383417" "00382203" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383418" "00382204" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383419" "00382205" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383420" "00382206" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383421" "00382207" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383422" "00382208" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383423" "00382209" "1" "00000" "03840" "2021-09-09 12:33:19" "" "" "SEQ-NG-I" "DNA" "blood" "HaloPlex 45 to 111 genes" "0000383432" "00382218" "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" "0000383615" "00382401" "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" "0000383616" "00382402" "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" "0000383617" "00382403" "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" "0000383618" "00382404" "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" "0000383619" "00382405" "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" "0000383620" "00382406" "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" "0000383621" "00382407" "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" "0000383622" "00382408" "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" "0000383623" "00382409" "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" "0000383624" "00382410" "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" "0000383625" "00382411" "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" "0000383626" "00382412" "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" "0000383627" "00382413" "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" "0000383628" "00382414" "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" "0000383631" "00382417" "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" "0000383808" "00382594" "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" "0000383809" "00382595" "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" "0000383810" "00382596" "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" "0000383811" "00382597" "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" "0000383812" "00382598" "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" "0000384713" "00383488" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper" "0000384915" "00383690" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000385048" "00383823" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385049" "00383824" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385050" "00383825" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385146" "00383921" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP;SEQ" "DNA" "" "" "0000385150" "00383925" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385180" "00383955" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385190" "00383965" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP;SEQ" "DNA" "" "" "0000385211" "00383986" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385223" "00383998" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP;SEQ" "DNA" "" "" "0000385231" "00384006" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385265" "00384040" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385269" "00384044" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385306" "00384081" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385309" "00384084" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385313" "00384088" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385317" "00384092" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385366" "00384141" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385380" "00384155" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385382" "00384157" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385422" "00384197" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385438" "00384213" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385474" "00384249" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385493" "00384268" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385550" "00384325" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385726" "00384501" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385798" "00384572" "1" "00000" "03840" "2021-09-30 10:23:17" "" "" "arraySNP;SEQ-NG" "DNA" "blood" "WES" "0000385799" "00384573" "1" "00000" "03840" "2021-09-30 10:23:17" "" "" "arraySNP;SEQ-NG" "DNA" "blood" "WES" "0000386279" "00385050" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386644" "00385415" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386965" "00385737" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 6 containing 386 genes" "0000387404" "00386175" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387455" "00386226" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387779" "00386551" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387781" "00386553" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387950" "00386722" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387977" "00386749" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387993" "00386765" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388032" "00386804" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388073" "00386845" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388087" "00386859" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388243" "00387017" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388244" "00387018" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388245" "00387019" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388246" "00387020" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388247" "00387021" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388248" "00387022" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388249" "00387023" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388250" "00387024" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388251" "00387025" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388252" "00387026" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388253" "00387027" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388254" "00387028" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388301" "00387075" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388612" "00387386" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000388619" "00387393" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000388620" "00387394" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000388857" "00387631" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000389289" "00388050" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" "" "0000389290" "00388051" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" "" "0000389291" "00388052" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" "" "0000389523" "00388282" "1" "00000" "03840" "2021-11-03 14:53:28" "" "" "STR;SEQ" "DNA" "blood" "targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes" "0000389524" "00388283" "1" "00000" "03840" "2021-11-03 14:53:28" "" "" "STR;SEQ" "DNA" "blood" "targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes" "0000389525" "00388284" "1" "00000" "03840" "2021-11-03 14:53:28" "" "" "STR;SEQ" "DNA" "blood" "targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes" "0000389526" "00388285" "1" "00000" "03840" "2021-11-03 14:53:28" "" "" "STR;SEQ" "DNA" "blood" "targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes" "0000389785" "00388543" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000389805" "00388563" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000390091" "00388848" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390092" "00388849" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390108" "00388865" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390548" "00389305" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390619" "00389376" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390620" "00389377" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390621" "00389378" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390622" "00389379" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390828" "00389585" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390829" "00389586" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390830" "00389587" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390900" "00389657" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390919" "00389676" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390935" "00389692" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390952" "00389709" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390997" "00389754" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391031" "00389788" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000391083" "00389840" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391145" "00389902" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391146" "00389903" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391180" "00389937" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391232" "00389989" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391286" "00390045" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000391612" "00390371" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391613" "00390372" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391614" "00390373" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391615" "00390374" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391616" "00390375" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391617" "00390376" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391618" "00390377" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391619" "00390378" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391620" "00390379" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391621" "00390380" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391622" "00390381" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391623" "00390382" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391624" "00390383" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391625" "00390384" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391716" "00390475" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392002" "00390761" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392030" "00390789" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392135" "00390894" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392178" "00390937" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392185" "00390944" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392467" "00391225" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392479" "00391237" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392489" "00391247" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392492" "00391250" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392493" "00391251" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392494" "00391252" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392495" "00391253" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392496" "00391254" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392498" "00391256" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392500" "00391258" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392503" "00391261" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392511" "00391269" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392525" "00391283" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392593" "00391351" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392594" "00391352" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392595" "00391353" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000393383" "00392141" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393408" "00392166" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393570" "00392328" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393571" "00392329" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393576" "00392334" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393577" "00392335" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393588" "00392346" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393597" "00392355" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393607" "00392365" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393633" "00392391" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393821" "00392574" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393833" "00392586" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393837" "00392590" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393858" "00392611" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393872" "00392625" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393915" "00392668" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393920" "00392673" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393923" "00392676" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394701" "00393453" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394764" "00393516" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394899" "00393651" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394900" "00393652" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394957" "00393709" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395031" "00393783" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395051" "00393803" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395092" "00393844" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395149" "00393901" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395154" "00393906" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395581" "00394334" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395770" "00394523" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395771" "00394524" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395772" "00394525" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395773" "00394526" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395774" "00394527" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395775" "00394528" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395776" "00394529" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395777" "00394530" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395778" "00394531" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395779" "00394532" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395780" "00394533" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395781" "00394534" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395782" "00394535" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395874" "00394627" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395875" "00394628" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395876" "00394629" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395877" "00394630" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395878" "00394631" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395879" "00394632" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397134" "00395895" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397135" "00395896" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397136" "00395897" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397180" "00395941" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397207" "00395968" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397208" "00395969" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397209" "00395970" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397711" "00396468" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies" "0000397771" "00396528" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397774" "00396531" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397776" "00396533" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397781" "00396538" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397811" "00396568" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397863" "00396620" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397876" "00396633" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405348" "00404110" "1" "00006" "00006" "2022-02-27 18:48:53" "" "" "SEQ" "DNA" "" "" "0000405349" "00404111" "1" "00006" "00006" "2022-02-27 18:52:44" "" "" "SEQ" "DNA" "" "" "0000413495" "00412222" "1" "00000" "03840" "2022-06-24 13:46:21" "" "" "PCRm;SEQ" "DNA" "blood" "" "0000414006" "00412736" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414007" "00412737" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414008" "00412738" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414009" "00412739" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414010" "00412740" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414011" "00412741" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414012" "00412742" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414013" "00412743" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414014" "00412744" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414015" "00412745" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414016" "00412746" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414017" "00412747" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414018" "00412748" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414019" "00412749" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414020" "00412750" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414021" "00412751" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414022" "00412752" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414023" "00412753" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414024" "00412754" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414025" "00412755" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414026" "00412756" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414027" "00412757" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "SEQ" "DNA" "blood" "" "0000414028" "00412758" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414029" "00412759" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414030" "00412760" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414031" "00412761" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414032" "00412762" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414033" "00412763" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414034" "00412764" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414035" "00412765" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414036" "00412766" "1" "00000" "03840" "2022-07-04 13:11:04" "" "" "STR;SEQ" "DNA" "blood" "" "0000414037" "00412767" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SEQ" "DNA" "blood" "" "0000414038" "00412768" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SEQ" "DNA" "blood" "" "0000414039" "00412769" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SEQ" "DNA" "blood" "" "0000414040" "00412770" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SEQ" "DNA" "blood" "" "0000414041" "00412771" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SEQ" "DNA" "blood" "" "0000414042" "00412772" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SEQ" "DNA" "blood" "" "0000414043" "00412773" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414044" "00412774" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414045" "00412775" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414046" "00412776" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414047" "00412777" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414048" "00412778" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414049" "00412779" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414050" "00412780" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414051" "00412781" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414052" "00412782" "1" "00000" "03840" "2022-07-04 14:49:05" "" "" "SSCA" "DNA" "blood" "" "0000414053" "00412784" "1" "00000" "03840" "2022-07-04 15:14:35" "" "" "?" "DNA" "" "" "0000414055" "00412785" "1" "00000" "03840" "2022-07-04 15:50:00" "" "" "CSGE;SEQ" "DNA" "blood" "" "0000414056" "00412786" "1" "00000" "03840" "2022-07-04 15:50:00" "" "" "CSGE;SEQ" "DNA" "blood" "" "0000414061" "00412791" "1" "00000" "03840" "2022-07-04 20:28:37" "03840" "2022-07-04 20:31:05" "SEQ;SSCA;STR" "DNA" "blood" "" "0000414069" "00412798" "1" "00000" "03840" "2022-07-05 12:24:55" "" "" "SEQ" "DNA" "blood" "" "0000414070" "00412799" "1" "00000" "03840" "2022-07-05 12:24:55" "" "" "SEQ" "DNA" "blood" "" "0000414071" "00412800" "1" "00000" "03840" "2022-07-05 12:24:55" "" "" "SEQ" "DNA" "blood" "" "0000414072" "00412801" "1" "00000" "03840" "2022-07-05 12:24:55" "" "" "SEQ" "DNA" "blood" "" "0000414073" "00412802" "1" "00000" "03840" "2022-07-05 12:24:55" "" "" "SEQ" "DNA" "blood" "" "0000414074" "00412803" "1" "00000" "03840" "2022-07-05 12:24:55" "" "" "SEQ" "DNA" "blood" "" "0000414075" "00412804" "1" "00000" "03840" "2022-07-05 12:24:55" "" "" "SEQ" "DNA" "blood" "" "0000414076" "00412805" "1" "00000" "03840" "2022-07-05 12:24:55" "" "" "SEQ" "DNA" "blood" "" "0000414077" "00412806" "1" "00000" "03840" "2022-07-05 13:55:11" "" "" "SEQ" "DNA" "blood" "" "0000414078" "00412807" "1" "00000" "03840" "2022-07-05 13:55:11" "" "" "SEQ" "DNA" "blood" "" "0000414079" "00412808" "1" "00000" "03840" "2022-07-05 13:55:11" "" "" "SEQ" "DNA" "blood" "" "0000414080" "00412809" "1" "00000" "03840" "2022-07-05 13:55:11" "" "" "SEQ" "DNA" "blood" "" "0000414081" "00412810" "1" "00000" "03840" "2022-07-05 13:55:11" "" "" "SEQ" "DNA" "blood" "" "0000414082" "00412811" "1" "00000" "03840" "2022-07-05 13:55:11" "" "" "SEQ" "DNA" "blood" "" "0000414083" "00412812" "1" "00000" "03840" "2022-07-05 13:55:11" "" "" "SEQ" "DNA" "blood" "" "0000414084" "00412813" "1" "00000" "03840" "2022-07-05 13:55:11" "" "" "SEQ" "DNA" "blood" "" "0000414085" "00412814" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414086" "00412815" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414087" "00412816" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414088" "00412817" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414089" "00412818" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414090" "00412819" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414091" "00412820" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414092" "00412821" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414093" "00412822" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414094" "00412823" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414095" "00412824" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414096" "00412825" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414097" "00412826" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414098" "00412827" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414099" "00412828" "1" "00000" "03840" "2022-07-05 14:41:13" "" "" "SEQ" "DNA" "blood" "" "0000414101" "00412830" "1" "00000" "03840" "2022-07-05 15:25:41" "" "" "SEQ" "DNA" "blood" "" "0000414102" "00412831" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414103" "00412832" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414104" "00412833" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414105" "00412834" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414106" "00412835" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414107" "00412836" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414108" "00412837" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414109" "00412838" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414110" "00412839" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414111" "00412840" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414112" "00412841" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414113" "00412842" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414114" "00412843" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414115" "00412844" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414116" "00412845" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414117" "00412846" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414118" "00412847" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414119" "00412848" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414120" "00412849" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414121" "00412850" "1" "00000" "03840" "2022-07-05 17:41:15" "" "" "SEQ" "DNA" "blood" "" "0000414123" "00412852" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414124" "00412853" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414125" "00412854" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414126" "00412855" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414127" "00412856" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414128" "00412857" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414129" "00412858" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414130" "00412859" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414131" "00412860" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414132" "00412861" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414133" "00412862" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414134" "00412863" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414135" "00412864" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414136" "00412865" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414137" "00412866" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414138" "00412867" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414139" "00412868" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414140" "00412869" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414141" "00412870" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414142" "00412871" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414143" "00412872" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414144" "00412873" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414145" "00412874" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414146" "00412875" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414147" "00412876" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414148" "00412877" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414149" "00412878" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414150" "00412879" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414151" "00412880" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414152" "00412881" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414153" "00412882" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414154" "00412883" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414155" "00412884" "1" "00000" "03840" "2022-07-06 10:21:08" "" "" "SEQ" "DNA" "blood" "" "0000414156" "00412885" "1" "00000" "03840" "2022-07-06 10:37:19" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414157" "00412886" "1" "00000" "03840" "2022-07-06 10:37:19" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414158" "00412887" "1" "00000" "03840" "2022-07-06 10:37:19" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000414165" "00412894" "1" "00000" "03840" "2022-07-06 14:25:54" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414166" "00412895" "1" "00000" "03840" "2022-07-06 14:25:54" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414167" "00412896" "1" "00000" "03840" "2022-07-06 14:25:54" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414168" "00412897" "1" "00000" "03840" "2022-07-06 14:25:54" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414169" "00412898" "1" "00000" "03840" "2022-07-06 14:25:54" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414170" "00412899" "1" "00000" "03840" "2022-07-06 14:25:54" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414171" "00412900" "1" "00000" "03840" "2022-07-06 14:25:54" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414174" "00412903" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414175" "00412904" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414176" "00412905" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414177" "00412906" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414178" "00412907" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414179" "00412908" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414180" "00412909" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414181" "00412910" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414182" "00412911" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414183" "00412912" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414184" "00412913" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414185" "00412914" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414186" "00412915" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414187" "00412916" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414188" "00412917" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414189" "00412918" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414190" "00412919" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414191" "00412920" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414192" "00412921" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414193" "00412922" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414194" "00412923" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414195" "00412924" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414196" "00412925" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414197" "00412926" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414198" "00412927" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414199" "00412928" "1" "00000" "03840" "2022-07-06 16:27:41" "" "" "?" "DNA" "" "" "0000414201" "00412930" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414202" "00412931" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414203" "00412932" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414204" "00412933" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414205" "00412934" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414206" "00412935" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414207" "00412936" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414208" "00412937" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414209" "00412938" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414210" "00412939" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414211" "00412940" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414212" "00412941" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414213" "00412942" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414214" "00412943" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414215" "00412944" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414216" "00412945" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414217" "00412946" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414218" "00412947" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414219" "00412948" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414220" "00412949" "1" "00000" "03840" "2022-07-06 17:58:50" "" "" "STR;SEQ" "DNA" "blood" "" "0000414223" "00412952" "1" "00000" "03840" "2022-07-06 19:25:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000414224" "00412953" "1" "00000" "03840" "2022-07-06 19:25:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000414225" "00412954" "1" "00000" "03840" "2022-07-06 19:25:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000414226" "00412955" "1" "00000" "03840" "2022-07-06 19:25:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000414227" "00412956" "1" "00000" "03840" "2022-07-06 19:25:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000414228" "00412957" "1" "00000" "03840" "2022-07-06 19:25:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000414230" "00412959" "1" "00000" "03840" "2022-07-06 19:53:34" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000414231" "00412960" "1" "00000" "03840" "2022-07-07 10:11:48" "" "" "?" "DNA" "" "clinical paper, techniques unknown" "0000414237" "00412966" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414238" "00412967" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414239" "00412968" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414240" "00412969" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414241" "00412970" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414242" "00412971" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414243" "00412972" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414244" "00412973" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414245" "00412974" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414246" "00412975" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414247" "00412976" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414248" "00412977" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414249" "00412978" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414250" "00412979" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414251" "00412980" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414252" "00412981" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414253" "00412982" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414254" "00412983" "1" "00000" "03840" "2022-07-07 11:38:31" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing: vision gene panel analysis" "0000414302" "00413031" "1" "00000" "03840" "2022-07-07 15:35:12" "" "" "SEQ" "DNA" "blood" "" "0000415640" "00414360" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000421027" "00419722" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421712" "00420403" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421805" "00420496" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421838" "00420529" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421887" "00420578" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000425387" "00424076" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425388" "00424077" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425389" "00424078" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425390" "00424079" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425391" "00424080" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425392" "00424081" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425393" "00424082" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425394" "00424083" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425395" "00424084" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425396" "00424085" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425397" "00424086" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425398" "00424087" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425399" "00424088" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425400" "00424089" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425401" "00424090" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425402" "00424091" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425403" "00424092" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425404" "00424093" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425405" "00424094" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425406" "00424095" "1" "00000" "03840" "2022-11-16 20:34:22" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425407" "00424096" "1" "00000" "03840" "2022-11-16 21:10:04" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425408" "00424097" "1" "00000" "03840" "2022-11-16 21:10:04" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425409" "00424098" "1" "00000" "03840" "2022-11-16 21:10:04" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425410" "00424099" "1" "00000" "03840" "2022-11-16 21:10:04" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425411" "00424100" "1" "00000" "03840" "2022-11-16 21:10:04" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425412" "00424101" "1" "00000" "03840" "2022-11-16 21:10:04" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425413" "00424102" "1" "00000" "03840" "2022-11-16 21:10:04" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000425414" "00424103" "1" "00000" "03840" "2022-11-17 12:25:04" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425415" "00424104" "1" "00000" "03840" "2022-11-17 12:25:04" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425416" "00424105" "1" "00000" "03840" "2022-11-17 12:25:04" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425417" "00424106" "1" "00000" "03840" "2022-11-17 12:25:04" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425418" "00424107" "1" "00000" "03840" "2022-11-17 12:25:04" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425419" "00424108" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425420" "00424109" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425421" "00424110" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425422" "00424111" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425423" "00424112" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425424" "00424113" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425425" "00424114" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425426" "00424115" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425427" "00424116" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425428" "00424117" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425429" "00424118" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425430" "00424119" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425431" "00424120" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425432" "00424121" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425433" "00424122" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425434" "00424123" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425435" "00424124" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425436" "00424125" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425437" "00424126" "1" "00000" "03840" "2022-11-17 13:39:56" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted sequencing followed by verification by Sanger sequencing" "0000425449" "00424138" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425450" "00424139" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425451" "00424140" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425452" "00424141" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425453" "00424142" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425454" "00424143" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425455" "00424144" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425456" "00424145" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425457" "00424146" "1" "00000" "03840" "2022-11-17 17:30:02" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing and direct sequencing" "0000425461" "00424150" "1" "00000" "03840" "2022-11-18 10:16:39" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000425462" "00424151" "1" "00000" "03840" "2022-11-18 10:16:39" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel sequencing, whole exome and genome sequencing" "0000425463" "00424152" "1" "00000" "03840" "2022-11-18 10:16:39" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000425464" "00424153" "1" "00000" "03840" "2022-11-18 10:16:39" "" "" "SEQ-NG;SEQ" "DNA" "blood" "panel sequencing" "0000425465" "00424154" "1" "00000" "03840" "2022-11-18 10:16:39" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole genome sequencing" "0000425493" "00424182" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425494" "00424183" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425495" "00424184" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425496" "00424185" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425497" "00424186" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425498" "00424187" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425499" "00424188" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425500" "00424189" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425501" "00424190" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425502" "00424191" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425503" "00424192" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425504" "00424193" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425505" "00424194" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425506" "00424195" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425507" "00424196" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425508" "00424197" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425509" "00424198" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425510" "00424199" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425511" "00424200" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425512" "00424201" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425513" "00424202" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425514" "00424203" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425515" "00424204" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425516" "00424205" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425517" "00424206" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425518" "00424207" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000425519" "00424208" "1" "00000" "03840" "2022-11-18 12:57:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome/whole-genome sequencing" "0000428262" "00426942" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000430906" "00429493" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430922" "00429509" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430933" "00429520" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430962" "00429549" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430963" "00429550" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431003" "00429590" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431007" "00429594" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431027" "00429614" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431041" "00429628" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431057" "00429644" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431062" "00429649" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431080" "00429667" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431081" "00429668" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431107" "00429694" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431201" "00429788" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431260" "00429847" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431310" "00429897" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431312" "00429899" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431327" "00429914" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431336" "00429923" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431338" "00429925" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431401" "00429988" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431410" "00429997" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431436" "00430023" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431451" "00430038" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431452" "00430039" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431476" "00430063" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431499" "00430086" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431524" "00430111" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000445883" "00444309" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446972" "00445399" "1" "04627" "04627" "2024-01-13 20:32:08" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000448513" "00446936" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448514" "00446937" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448515" "00446938" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448539" "00446962" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448551" "00446974" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448552" "00446975" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448574" "00446997" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448582" "00447005" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448592" "00447015" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448593" "00447016" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448598" "00447021" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448832" "00447255" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448854" "00447277" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448866" "00447289" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448878" "00447301" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448883" "00447306" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449055" "00447478" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449104" "00447527" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449121" "00447544" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449159" "00447582" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449197" "00447620" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449199" "00447622" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449226" "00447649" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449290" "00447713" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000451582" "00449986" "1" "02230" "00006" "2024-05-24 14:55:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WGS" "0000452582" "00450984" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452583" "00450985" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452719" "00451120" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452721" "00451122" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452722" "00451123" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452723" "00451124" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1081 "{{screeningid}}" "{{geneid}}" "0000032930" "RP1" "0000032931" "RP1" "0000032932" "RP1" "0000032933" "RP1" "0000032934" "RP1" "0000032935" "RP1" "0000032936" "RP1" "0000032937" "RP1" "0000032938" "RP1" "0000032939" "RP1" "0000032940" "RP1" "0000032941" "RP1" "0000032942" "RP1" "0000032943" "RP1" "0000032944" "RP1" "0000032945" "RP1" "0000032946" "RP1" "0000032947" "RP1" "0000032948" "RP1" "0000032949" "RP1" "0000032950" "RP1" "0000032951" "RP1" "0000032952" "RP1" "0000032953" "RP1" "0000032954" "RP1" "0000032955" "RP1" "0000032956" "RP1" "0000032957" "RP1" "0000032958" "RP1" "0000032959" "RP1" "0000032960" "RP1" "0000032961" "RP1" "0000032962" "RP1" "0000032963" "RP1" "0000032964" "RP1" "0000032965" "RP1" "0000032966" "RP1" "0000032967" "RP1" "0000032968" "RP1" "0000032969" "RP1" "0000032970" "RP1" "0000032971" "RP1" "0000032972" "RP1" "0000032973" "RP1" "0000032974" "RP1" "0000032975" "RP1" "0000032976" "RP1" "0000032977" "RP1" "0000032978" "RP1" "0000032979" "RP1" "0000032980" "RP1" "0000032981" "RP1" "0000032982" "RP1" "0000032983" "RP1" "0000032984" "RP1" "0000032985" "RP1" "0000032986" "RP1" "0000032987" "RP1" "0000032988" "RP1" "0000032989" "RP1" "0000032990" "RP1" "0000032991" "RP1" "0000032992" "RP1" "0000032993" "RP1" "0000032994" "RP1" "0000032995" "RP1" "0000032996" "RP1" "0000032997" "RP1" "0000032998" "RP1" "0000032999" "RP1" "0000033000" "RP1" "0000033001" "RP1" "0000033002" "RP1" "0000033003" "RP1" "0000033004" "RP1" "0000033005" "RP1" "0000033006" "RP1" "0000033007" "RP1" "0000033008" "RP1" "0000033009" "RP1" "0000033010" "RP1" "0000033011" "RP1" "0000033012" "RP1" "0000033013" "RP1" "0000033014" "RP1" "0000033015" "RP1" "0000033016" "RP1" "0000033017" "RP1" "0000033018" "RP1" "0000033019" "RP1" "0000033020" "RP1" "0000033021" "RP1" "0000033022" "RP1" "0000033023" "RP1" "0000033024" "RP1" "0000033025" "RP1" "0000033026" "RP1" "0000033027" "RP1" "0000033028" "RP1" "0000033029" "RP1" "0000033030" "RP1" "0000033031" "RP1" "0000033032" "RP1" "0000033033" "RP1" "0000033034" "RP1" "0000033035" "RP1" "0000033036" "RP1" "0000033037" "RP1" "0000033038" "RP1" "0000033039" "RP1" "0000033040" "RP1" "0000033041" "RP1" "0000033042" "RP1" "0000033043" "RP1" "0000033044" "RP1" "0000033045" "RP1" "0000033046" "RP1" "0000033047" "RP1" "0000033048" "RP1" "0000033049" "RP1" "0000033050" "RP1" "0000033051" "RP1" "0000033052" "RP1" "0000033053" "RP1" "0000033054" "RP1" "0000033055" "RP1" "0000033056" "RP1" "0000033057" "RP1" "0000033058" "RP1" "0000033059" "RP1" "0000033060" "RP1" "0000033061" "RP1" "0000033062" "RP1" "0000033063" "RP1" "0000033064" "RP1" "0000033065" "RP1" "0000033066" 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"0000425402" "RP1" "0000425403" "RP1" "0000425404" "RP1" "0000425405" "RP1" "0000425406" "RP1" "0000425407" "RP1" "0000425408" "RP1" "0000425409" "RP1" "0000425410" "RP1" "0000425411" "RP1" "0000425412" "RP1" "0000425413" "RP1" "0000425414" "RP1" "0000425415" "RP1" "0000425416" "RP1" "0000425417" "RP1" "0000425418" "RP1" "0000425419" "RP1" "0000425420" "RP1" "0000425421" "RP1" "0000425422" "RP1" "0000425423" "RP1" "0000425424" "RP1" "0000425425" "RP1" "0000425426" "RP1" "0000425427" "RP1" "0000425428" "RP1" "0000425429" "RP1" "0000425430" "RP1" "0000425431" "RP1" "0000425432" "RP1" "0000425433" "RP1" "0000425434" "RP1" "0000425435" "RP1" "0000425436" "RP1" "0000425437" "RP1" "0000425449" "RP1" "0000425450" "RP1" "0000425451" "RP1" "0000425452" "RP1" "0000425453" "RP1" "0000425454" "RP1" "0000425455" "RP1" "0000425456" "RP1" "0000425457" "RP1" "0000425461" "RP1" "0000425462" "RP1" "0000425463" "RP1" "0000425464" "RP1" "0000425465" "RP1" "0000425493" "RP1" "0000425494" "RP1" "0000425495" "RP1" "0000425496" "RP1" "0000425497" "RP1" "0000425498" "RP1" "0000425499" "RP1" "0000425500" "RP1" "0000425501" "RP1" "0000425502" "RP1" "0000425503" "RP1" "0000425504" "RP1" "0000425505" "RP1" "0000425506" "RP1" "0000425507" "RP1" "0000425508" "RP1" "0000425509" "RP1" "0000425510" "RP1" "0000425511" "RP1" "0000425512" "RP1" "0000425513" "RP1" "0000425514" "RP1" "0000425515" "RP1" "0000425516" "RP1" "0000425517" "RP1" "0000425518" "RP1" "0000425519" "RP1" "0000428262" "IMPDH1" "0000430906" "RP1" "0000430922" "RP1" "0000430933" "RP1" "0000430962" "RP1" "0000430963" "RP1" "0000431003" "RP1" "0000431007" "RP1" "0000431027" "RP1" "0000431041" "RP1" "0000431057" "RP1" "0000431062" "RP1" "0000431080" "RP1" "0000431081" "RP1" "0000431107" "RP1" "0000431201" "RP1" "0000431260" "RP1" "0000431310" "RP1" "0000431312" "RP1" "0000431327" "RP1" "0000431336" "RP1" "0000431338" "RP1" "0000431401" "RP1" "0000431410" "RP1" "0000431436" "RP1" "0000431451" "RP1" "0000431452" "RP1" "0000431476" "RP1" "0000431499" "RP1" "0000431524" "RP1" "0000446972" "RP1" ## 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 = 1611 "{{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}}" "0000060192" "1" "10" "8" "55528460" "55528460" "subst" "0" "00006" "RP1_000000" "g.55528460T>C" "" "{PMID:Bowne 1999:10484783}" "" "" "not found in controls" "Germline" "no" "" "0" "" "" "g.54615900T>C" "" "benign" "" "0000060193" "0" "10" "8" "0" "0" "subst" "0" "00006" "RP1_000000" "g.?" "1/266 cases" "{PMID:Payne 2000:11095597}" "" "1-39A>G" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000060194" "21" "90" "8" "55533532" "55533533" "del" "0" "00228" "RP1_000001" "g.55533532_55533533del" "" "{PMID:Chen 2010:19933189}" "" "5_6delGT" "" "Germline" "" "" "0" "" "" "g.54620972_54620973del" "" "pathogenic" "" "0000060195" "10" "90" "8" "55541383" "55541383" "dup" "0" "00228" "RP1_000002" "g.55541383dup" "" "{PMID:Chen 2010:19933189}" "" "4941_4942insT" "" "Germline" "" "" "0" "" "" "g.54628823dup" "" "pathogenic" "" "0000060196" "11" "90" "8" "55534747" "55534747" "del" "0" "00228" "RP1_000003" "g.55534747del" "" "Pierce 2010 abstract ASHG" "" "" "unaffected parents heterozygous suggesting autuosomal recessive inheritance" "Germline" "" "" "0" "" "" "g.54622187del" "" "pathogenic" "" "0000060197" "21" "90" "8" "55534747" "55534747" "del" "0" "00228" "RP1_000003" "g.55534747del" "" "Pierce 2010 abstract ASHG" "" "" "unaffected parents heterozygous suggesting autuosoma recessive inheritance" "Germline" "" "" "0" "" "" "g.54622187del" "" "pathogenic" "" "0000060198" "10" "90" "8" "55537560" "55537560" "subst" "0.0126036" "00228" "RP1_000004" "g.55537560C>T" "" "{PMID:Khaliq 2005:15863674}" "" "" "in autosomal dominant cases c.1118C>T (Thr373Ile) is not disease causing" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "pathogenic" "" "0000060199" "20" "90" "8" "55537560" "55537560" "subst" "0.0126036" "00228" "RP1_000004" "g.55537560C>T" "" "{PMID:Khaliq 2005:15863674}" "" "" "in autosomal dominant cases c.1118C>T (Thr373Ile) is not disease causing" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "pathogenic" "" "0000060200" "1" "90" "8" "55537560" "55537560" "subst" "0.0126036" "00228" "RP1_000004" "g.55537560C>T" "" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "pathogenic" "" "0000060201" "2" "90" "8" "55537560" "55537560" "subst" "0.0126036" "00228" "RP1_000004" "g.55537560C>T" "" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "pathogenic" "" "0000060202" "1" "90" "8" "55537560" "55537560" "subst" "0.0126036" "00228" "RP1_000004" "g.55537560C>T" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "pathogenic" "" "0000060203" "2" "90" "8" "55537560" "55537560" "subst" "0.0126036" "00228" "RP1_000004" "g.55537560C>T" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "pathogenic" "" "0000060204" "10" "90" "8" "55537560" "55537560" "subst" "0.0126036" "00228" "RP1_000004" "g.55537560C>T" "" "{PMID:Khaliq 2005:15863674}" "" "" "in autosomal dominant cases c.1118C>T (Thr373Ile) is not disease causing" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "pathogenic" "" "0000060205" "20" "90" "8" "55537560" "55537560" "subst" "0.0126036" "00228" "RP1_000004" "g.55537560C>T" "" "{PMID:Khaliq 2005:15863674}" "" "" "in autosomal dominant cases c.1118C>T (Thr373Ile) is not disease causing" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "pathogenic" "" "0000060206" "1" "10" "8" "55537560" "55537560" "subst" "0.0126036" "00229" "RP1_000004" "g.55537560C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "benign" "" "0000060207" "10" "90" "8" "55537900" "55537903" "dup" "0" "00228" "RP1_000005" "g.55537900_55537903dup" "" "{PMID:Riazuddin 2005:15980210}" "" "1461-1465insTGAA" "" "Germline" "yes" "" "0" "" "" "g.54625340_54625343dup" "" "pathogenic" "" "0000060208" "20" "90" "8" "55537900" "55537903" "dup" "0" "00228" "RP1_000005" "g.55537900_55537903dup" "" "{PMID:Riazuddin 2005:15980210}" "" "1461-1465insTGAA" "" "Germline" "yes" "" "0" "" "" "g.54625340_54625343dup" "" "pathogenic" "" "0000060209" "1" "90" "8" "55537900" "55537903" "dup" "0" "00228" "RP1_000005" "g.55537900_55537903dup" "" "{PMID:Khaliq 2005:15863674}" "" "1461-1465insTGAA" "" "Germline" "" "" "0" "" "" "g.54625340_54625343dup" "" "pathogenic" "" "0000060210" "2" "90" "8" "55537900" "55537903" "dup" "0" "00228" "RP1_000005" "g.55537900_55537903dup" "" "{PMID:Khaliq 2005:15863674}" "" "1461-1465insTGAA" "" "Germline" "" "" "0" "" "" "g.54625340_54625343dup" "" "pathogenic" "" "0000060211" "1" "90" "8" "55537940" "55537941" "ins" "0" "00228" "RP1_000006" "g.55537940_55537941insGT" "" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54625380_54625381insGT" "" "pathogenic" "" "0000060212" "0" "90" "8" "55534723" "55534723" "del" "0" "00006" "RP1_000007" "g.55534723del" "" "{PMID:Aldahmesh 2009:19956407}" "" "" "" "Germline" "" "" "0" "" "" "g.54622163del" "" "pathogenic" "" "0000060213" "1" "90" "8" "55538471" "55538471" "del" "0" "00228" "RP1_000008" "g.55538471del" "" "{PMID:Bowne 1999:10484783}" "" "" "" "Germline" "" "" "0" "" "" "g.54625911del" "" "pathogenic" "" "0000060214" "0" "30" "8" "55538558" "55538558" "subst" "0.000325362" "00228" "RP1_000009" "g.55538558G>C" "" "{PMID:Baum 2001:11317367}" "" "" "present in controls" "Germline" "" "" "0" "" "" "g.54625998G>C" "" "likely benign" "" "0000060215" "0" "30" "8" "55538558" "55538558" "subst" "0.000325362" "00228" "RP1_000009" "g.55538558G>C" "" "Chiang 2006" "" "" "present in controls" "Germline" "" "" "0" "" "" "g.54625998G>C" "" "likely benign" "" "0000060216" "0" "30" "8" "55538558" "55538558" "subst" "0.000325362" "00228" "RP1_000009" "g.55538558G>C" "" "Zhang 2010" "" "" "present in controls" "Germline" "" "" "0" "" "" "g.54625998G>C" "" "likely benign" "" "0000060217" "1" "30" "8" "55538697" "55538697" "subst" "0.00218278" "00228" "RP1_000010" "g.55538697C>T" "" "{PMID:Roberts 2006:16568030}" "" "" "present in controls" "Germline" "no" "" "0" "" "" "g.54626137C>T" "" "likely benign" "" "0000060218" "1" "30" "8" "55539395" "55539395" "subst" "0.345024" "00228" "RP1_000011" "g.55539395A>T" "" "{PMID:Sullivan 1999:10391212}" "" "" "segregates in one family; present in controls" "Germline" "" "rs62642052" "0" "" "" "g.54626835A>T" "" "likely benign" "" "0000060219" "1" "30" "8" "55539395" "55539395" "subst" "0.345024" "00228" "RP1_000011" "g.55539395A>T" "" "{PMID:Sohocki 2001:11139241}" "" "" "segregates in one family; present in controls" "Germline" "" "rs62642052" "0" "" "" "g.54626835A>T" "" "likely benign" "" "0000060220" "1" "30" "8" "55539395" "55539395" "subst" "0.345024" "00228" "RP1_000011" "g.55539395A>T" "" "Sheng 2008" "" "" "segregates in one family; present in controls" "Germline" "" "rs62642052" "0" "" "" "g.54626835A>T" "" "likely benign" "" "0000060221" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00006" "RP1_000011" "g.55539395A>T" "" "{PMID:Fujita 2003:12764676}" "" "" "" "Germline" "" "rs2293869" "0" "" "" "g.54626835A>T" "" "likely pathogenic" "" "0000060222" "0" "10" "8" "55539395" "55539395" "subst" "0.345024" "00006" "RP1_000011" "g.55539395A>T" "51/100 controls" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54626835A>T" "" "benign" "" "0000060223" "0" "10" "8" "55539395" "55539395" "subst" "0.345024" "00006" "RP1_000011" "g.55539395A>T" "128/266 cases" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54626835A>T" "" "benign" "" "0000060224" "1" "30" "8" "55539657" "55539657" "subst" "0" "00228" "RP1_000012" "g.55539657A>G" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "no" "" "0" "" "" "g.54627097A>G" "" "likely benign" "" "0000060225" "0" "30" "8" "55539466" "55539466" "subst" "0.000370247" "00228" "RP1_000013" "g.55539466G>A" "" "{PMID:Baum 2001:11317367}" "" "" "present in controls" "Germline" "" "" "0" "" "" "g.54626906G>A" "" "likely benign" "" "0000060226" "0" "30" "8" "55539466" "55539466" "subst" "0.000370247" "00228" "RP1_000013" "g.55539466G>A" "" "Zhang 2010" "" "" "present in controls" "Germline" "" "" "0" "" "" "g.54626906G>A" "" "likely benign" "" "0000060227" "0" "30" "8" "55539630" "55539630" "subst" "7.72107E-5" "00228" "RP1_000014" "g.55539630A>G" "" "{PMID:Baum 2001:11317367}" "" "3188G>A, wrong annottion" "present in controls" "Germline" "" "" "0" "" "" "g.54627070A>G" "" "likely benign" "" "0000060228" "0" "30" "8" "55539630" "55539630" "subst" "7.72107E-5" "00228" "RP1_000014" "g.55539630A>G" "" "Chiang 2006" "" "3188G>A, wrong annottion" "present in controls" "Germline" "" "" "0" "" "" "g.54627070A>G" "" "likely benign" "" "0000060229" "1" "30" "8" "55540509" "55540509" "subst" "0" "00228" "RP1_000015" "g.55540509T>C" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "no" "" "0" "" "" "g.54627949T>C" "" "likely benign" "" "0000060230" "1" "30" "8" "55540692" "55540692" "subst" "0.00135913" "00228" "RP1_000016" "g.55540692T>C" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "no" "" "0" "" "" "g.54628132T>C" "" "likely benign" "" "0000060231" "0" "30" "8" "55540692" "55540692" "subst" "0.00135913" "00228" "RP1_000016" "g.55540692T>C" "1/190" "{PMID:Berson 2001:11527933}" "" "" "1/95 controls" "Germline" "" "" "0" "" "" "g.54628132T>C" "" "likely benign" "" "0000060232" "1" "50" "8" "55540692" "55540692" "subst" "0.00135913" "00229" "RP1_000016" "g.55540692T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted unknown effect on function, present at significant fraction in Exome Variant Server" "Germline" "" "" "0" "" "" "g.54628132T>C" "" "VUS" "" "0000060233" "1" "10" "8" "55541226" "55541226" "subst" "0.0162193" "00228" "RP1_000017" "g.55541226G>A" "" "{PMID:Bowne 1999:10484783}" "" "" "" "Germline" "" "rs35084330" "0" "" "" "g.54628666G>A" "" "benign" "" "0000060234" "1" "30" "8" "55541226" "55541226" "subst" "0.0162193" "00228" "RP1_000017" "g.55541226G>A" "" "{PMID:Payne 2000:11095597}" "" "" "no other family member" "Germline" "" "rs35084330" "0" "" "" "g.54628666G>A" "" "likely benign" "" "0000060235" "1" "30" "8" "55541226" "55541226" "subst" "0.0162193" "00228" "RP1_000017" "g.55541226G>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "no other family members" "Germline" "" "rs35084330" "0" "" "" "g.54628666G>A" "" "likely benign" "" "0000060236" "1" "10" "8" "55541226" "55541226" "subst" "0.0162193" "00006" "RP1_000017" "g.55541226G>A" "0.01" "{PMID:Bowne 1999:10484783}" "" "" "" "Germline" "" "" "0" "" "" "g.54628666G>A" "" "benign" "" "0000060237" "0" "30" "8" "55542239" "55542239" "subst" "0.000187423" "00228" "RP1_000018" "g.55542239C>T" "" "{PMID:Baum 2001:11317367}" "" "" "" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "likely benign" "" "0000060238" "0" "30" "8" "55542239" "55542239" "subst" "0.000187423" "00228" "RP1_000018" "g.55542239C>T" "" "Chiang 2006" "" "" "" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "likely benign" "" "0000060239" "0" "30" "8" "55542239" "55542239" "subst" "0.000187423" "00006" "RP1_000018" "g.55542239C>T" "" "{PMID:Yeung 2001:11694261}" "" "" "" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "likely benign" "" "0000060240" "1" "30" "8" "55541819" "55541819" "subst" "0.001994" "00228" "RP1_000019" "g.55541819C>T" "" "{PMID:Payne 2000:11095597}" "" "5378C>T" "c.2035C>T (Gln679X) considered as pathogenic" "Germline" "" "" "0" "" "" "g.54629259C>T" "" "likely benign" "" "0000060241" "1" "30" "8" "55541819" "55541819" "subst" "0.001994" "00228" "RP1_000019" "g.55541819C>T" "" "{PMID:Berson 2001:11527933}" "" "" "c.2035C>T (Gln679X) considered as pathogenic" "Germline" "" "" "0" "" "" "g.54629259C>T" "" "likely benign" "" "0000060242" "1" "90" "8" "55538477" "55538477" "subst" "0" "00228" "RP1_000020" "g.55538477C>T" "" "{PMID:Sullivan 1999:10391212}" "" "" "" "Germline" "" "" "0" "" "" "g.54625917C>T" "" "pathogenic" "" "0000060243" "1" "90" "8" "55538477" "55538477" "subst" "0" "00228" "RP1_000020" "g.55538477C>T" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "" "" "0" "" "" "g.54625917C>T" "" "pathogenic" "" "0000060244" "1" "30" "8" "55542247" "55542247" "subst" "0.000146642" "00228" "RP1_000021" "g.55542247T>G" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "no" "" "0" "" "" "g.54629687T>G" "" "likely benign" "" "0000060245" "0" "30" "8" "55542487" "55542487" "subst" "4.48054E-5" "00228" "RP1_000022" "g.55542487A>G" "" "Zhang 2010" "" "" "no evidence to be pathogenic" "Germline" "" "" "0" "" "" "g.54629927A>G" "" "likely benign" "" "0000060246" "1" "30" "8" "55542638" "55542638" "subst" "0.000500338" "00228" "RP1_000023" "g.55542638G>A" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "no" "" "0" "" "" "g.54630078G>A" "" "likely benign" "" "0000060247" "0" "30" "8" "55542638" "55542638" "subst" "0.000500338" "00228" "RP1_000023" "g.55542638G>A" "1/182" "{PMID:Berson 2001:11527933}" "" "" "1/91 controls" "Germline" "" "" "0" "" "" "g.54630078G>A" "" "likely benign" "" "0000060248" "0" "30" "8" "55542865" "55542865" "subst" "8.15003E-6" "00228" "RP1_000024" "g.55542865A>G" "" "Chiang 2006" "" "" "" "Germline" "" "" "0" "" "" "g.54630305A>G" "" "likely benign" "" "0000060249" "0" "30" "8" "55542865" "55542865" "subst" "8.15003E-6" "00228" "RP1_000024" "g.55542865A>G" "" "Chiang 2006" "" "" "" "Germline" "" "" "0" "" "" "g.54630305A>G" "" "likely benign" "" "0000060250" "0" "30" "8" "55542984" "55542984" "subst" "0" "00228" "RP1_000025" "g.55542984C>T" "" "Zhang 2010" "" "" "present in controls\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.54630424C>T" "" "likely benign" "" "0000060251" "0" "30" "8" "55542984" "55542984" "subst" "0" "00228" "RP1_000025" "g.55542984C>T" "" "Zhang 2010" "" "" "present in controls\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.54630424C>T" "" "likely benign" "" "0000060252" "0" "30" "8" "55534807" "55534807" "subst" "8.1213E-6" "00228" "RP1_000026" "g.55534807G>A" "" "{PMID:Baum 2001:11317367}" "" "" "" "Germline" "no" "" "0" "" "" "g.54622247G>A" "" "likely benign" "" "0000060253" "0" "30" "8" "55534807" "55534807" "subst" "8.1213E-6" "00228" "RP1_000026" "g.55534807G>A" "" "Chiang 2006" "" "" "" "Germline" "no" "" "0" "" "" "g.54622247G>A" "" "likely benign" "" "0000060254" "1" "30" "8" "55534807" "55534807" "subst" "8.1213E-6" "00006" "RP1_000026" "g.55534807G>A" "" "{PMID:Xiaoli 2002:12901510}" "" "" "" "Germline" "" "" "0" "" "" "g.54622247G>A" "" "likely benign" "" "0000060255" "1" "90" "8" "55538498" "55538498" "subst" "0" "00228" "RP1_000027" "g.55538498C>T" "" "{PMID:Gamundi 2006:16597330}" "" "" "" "Germline" "" "" "0" "" "" "g.54625938C>T" "" "pathogenic" "" "0000060256" "1" "50" "8" "55540635" "55540635" "subst" "4.47478E-5" "00228" "RP1_000028" "g.55540635C>G" "" "{PMID:Audo 2012:22052604}" "" "" "not in 190 controls; SIFT-affects function, PolyPhen-possibly damaging" "Germline" "" "" "0" "" "" "g.54628075C>G" "" "VUS" "" "0000060257" "1" "50" "8" "55540635" "55540635" "subst" "4.47478E-5" "00228" "RP1_000028" "g.55540635C>G" "" "{PMID:Audo 2012:22052604}" "" "" "not in 190 controls; SIFT-affects function, PolyPhen-possibly damaging" "Germline" "" "" "0" "" "" "g.54628075C>G" "" "VUS" "" "0000060258" "1" "90" "8" "55538507" "55538507" "subst" "0" "00228" "RP1_000029" "g.55538507C>T" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54625947C>T" "" "pathogenic" "" "0000060259" "1" "90" "8" "55538507" "55538507" "subst" "0" "00228" "RP1_000029" "g.55538507C>T" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54625947C>T" "" "pathogenic" "" "0000060260" "1" "90" "8" "55538507" "55538507" "subst" "0" "00228" "RP1_000029" "g.55538507C>T" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54625947C>T" "" "pathogenic" "" "0000060261" "1" "90" "8" "55538507" "55538507" "subst" "0" "00228" "RP1_000029" "g.55538507C>T" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54625947C>T" "" "pathogenic" "" "0000060262" "1" "50" "8" "55528724" "55528724" "subst" "0" "00228" "RP1_000030" "g.55528724A>G" "" "{PMID:Audo 2012:22052604}" "" "1-51A>G" "" "Germline" "" "" "0" "" "" "g.54616164A>G" "" "VUS" "" "0000060263" "1" "30" "8" "55542581" "55542581" "subst" "0" "00228" "RP1_000031" "g.55542581G>A" "" "{PMID:Audo 2012:22052604}" "" "" "SIFT-tolerated, PolyPhen-benign" "Germline" "" "" "0" "" "" "g.54630021G>A" "" "likely benign" "" "0000060264" "0" "50" "8" "55542404" "55542404" "subst" "0" "00228" "RP1_000032" "g.55542404A>G" "" "{PMID:Audo 2012:22052604}" "" "" "SIFT-tolerated, PolyPhen-benign" "Germline" "" "" "0" "" "" "g.54629844A>G" "" "VUS" "" "0000060265" "1" "90" "8" "55538717" "55538717" "subst" "0" "00228" "RP1_000033" "g.55538717A>T" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54626157A>T" "" "pathogenic" "" "0000060266" "1" "90" "8" "55538717" "55538717" "subst" "0" "00228" "RP1_000033" "g.55538717A>T" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54626157A>T" "" "pathogenic" "" "0000060267" "1" "90" "8" "55538717" "55538717" "subst" "0" "00228" "RP1_000033" "g.55538717A>T" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54626157A>T" "" "pathogenic" "" "0000060268" "0" "10" "8" "55539057" "55539057" "subst" "0.274715" "00006" "RP1_000034" "g.55539057G>A" "1/100 controls" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54626497G>A" "" "benign" "" "0000060269" "0" "10" "8" "55539057" "55539057" "subst" "0.274715" "00006" "RP1_000034" "g.55539057G>A" "1/266 cases" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54626497G>A" "" "benign" "" "0000060270" "1" "70" "8" "55539057" "55539057" "subst" "0.274715" "00130" "RP1_000034" "g.55539057G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "" "Germline" "" "" "0" "" "" "g.54626497G>A" "" "likely pathogenic" "" "0000060271" "0" "50" "8" "55541890" "55541890" "subst" "0" "00006" "RP1_000035" "g.55541890C>A" "" "{PMID:Ziviello 2005:15994872}" "" "" "" "Germline" "" "" "0" "" "" "g.54629330C>A" "" "VUS" "" "0000060272" "1" "30" "8" "55541890" "55541890" "subst" "0" "00006" "RP1_000035" "g.55541890C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.54629330C>A" "" "likely benign" "" "0000060273" "2" "30" "8" "55541890" "55541890" "subst" "0" "00006" "RP1_000035" "g.55541890C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.54629330C>A" "" "likely benign" "" "0000060274" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060275" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "Audo Human Mutation 2011" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060276" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060277" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060278" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060279" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060280" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060281" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060282" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060283" "1" "90" "8" "55538467" "55538467" "del" "0" "00228" "RP1_000036" "g.55538467del" "" "{PMID:Audo 2012:22052604}" "" "" "incomplete penetrance or later age at onset" "Germline" "" "" "0" "" "" "g.54625907del" "" "pathogenic" "" "0000060284" "1" "90" "8" "55538421" "55538421" "dup" "0" "00228" "RP1_000037" "g.55538421dup" "" "{PMID:Jacobson 2000:10845615}" "" "insA codon Pro658, position not given" "heterozygous" "Germline" "" "" "0" "" "" "g.54625861dup" "" "pathogenic" "" "0000060285" "1" "90" "8" "55538540" "55538540" "subst" "0" "00228" "RP1_000038" "g.55538540G>T" "" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54625980G>T" "" "pathogenic" "" "0000060286" "1" "90" "8" "55539393" "55539393" "subst" "9.75967E-5" "00228" "RP1_000039" "g.55539393A>G" "" "Chiang 2006" "" "" "variable phenoytpe in 1 family" "Germline" "" "" "0" "" "" "g.54626833A>G" "" "pathogenic" "" "0000060287" "0" "90" "8" "55539393" "55539393" "subst" "9.75967E-5" "00006" "RP1_000039" "g.55539393A>G" "" "{PMID:Wang 2005:16185528}" "" "" "" "Germline" "" "" "0" "" "" "g.54626833A>G" "" "pathogenic" "" "0000060288" "0" "90" "8" "55534132" "55534132" "subst" "0" "00006" "RP1_000040" "g.55534132C>A" "" "{PMID:Aldahmesh 2009:19956407}" "" "" "" "Germline" "" "" "0" "" "" "g.54621572C>A" "" "pathogenic" "" "0000060289" "1" "90" "8" "55538611" "55538611" "del" "0" "00228" "RP1_000041" "g.55538611del" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54626051del" "" "pathogenic" "" "0000060290" "1" "90" "8" "55538611" "55538611" "del" "0" "00228" "RP1_000041" "g.55538611del" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54626051del" "" "pathogenic" "" "0000060291" "1" "90" "8" "55538611" "55538611" "del" "0" "00228" "RP1_000041" "g.55538611del" "" "{PMID:Audo 2012:22052604}" "" "" "" "Germline" "" "" "0" "" "" "g.54626051del" "" "pathogenic" "" "0000060292" "1" "90" "8" "55538557" "55538557" "del" "0" "00228" "RP1_000042" "g.55538557del" "" "{PMID:Gamundi 2006:16597330}" "" "Lys705fsX712" "" "Germline" "" "" "0" "" "" "g.54625997del" "" "pathogenic" "" "0000060293" "1" "90" "8" "55538606" "55538607" "delins" "0" "00228" "RP1_000043" "g.55538606_55538607delinsG" "" "{PMID:Gamundi 2006:16597330}" "" "Lys722fsX737" "" "Germline" "" "" "0" "" "" "g.54626046_54626047delinsG" "" "pathogenic" "" "0000060294" "1" "90" "8" "55538609" "55538609" "subst" "0" "00228" "RP1_000044" "g.55538609G>T" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "" "" "0" "" "" "g.54626049G>T" "" "pathogenic" "" "0000060295" "1" "90" "8" "55538609" "55538609" "subst" "0" "00228" "RP1_000044" "g.55538609G>T" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "g.54626049G>T" "" "pathogenic" "" "0000060296" "1" "90" "8" "55538609" "55538609" "subst" "0" "00228" "RP1_000044" "g.55538609G>T" "" "Sullivan 2006" "" "" "" "Germline" "" "" "0" "" "" "g.54626049G>T" "" "pathogenic" "" "0000060297" "1" "90" "8" "55538614" "55538627" "del" "0" "00228" "RP1_000045" "g.55538614_55538627del" "" "{PMID:Bowne 1999:10484783}" "" "2168_2181del" "" "Germline" "" "" "0" "" "" "g.54626054_54626067del" "" "pathogenic" "" "0000060298" "1" "90" "8" "55538614" "55538627" "del" "0" "00228" "RP1_000045" "g.55538614_55538627del" "" "{PMID:Bowne 1999:10484783}" "" "2168_2181del" "" "Germline" "" "" "0" "" "" "g.54626054_54626067del" "" "pathogenic" "" "0000060299" "1" "90" "8" "55538614" "55538614" "dup" "0" "00228" "RP1_000046" "g.55538614dup" "" "{PMID:Bowne 1999:10484783}" "" "2169_2170insG" "" "Germline" "" "" "0" "" "" "g.54626054dup" "" "pathogenic" "" "0000060300" "1" "90" "8" "55538614" "55538614" "dup" "0" "00228" "RP1_000046" "g.55538614dup" "" "{PMID:Sohocki 2001:11139241}" "" "2169_2170insG" "" "Germline" "" "" "0" "" "" "g.54626054dup" "" "pathogenic" "" "0000060301" "1" "90" "8" "55538613" "55538628" "del" "0" "00228" "RP1_000047" "g.55538613_55538628del" "" "{PMID:Payne 2000:11095597}" "" "2171_2186delGGATACTTTGTGAGGA" "" "Germline" "" "" "0" "" "" "g.54626053_54626068del" "" "pathogenic" "" "0000060302" "1" "90" "8" "55538627" "55538627" "del" "0" "00228" "RP1_000048" "g.55538627del" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "" "" "0" "" "" "g.54626067del" "" "pathogenic" "" "0000060303" "1" "90" "8" "55538647" "55538647" "dup" "0" "00228" "RP1_000049" "g.55538647dup" "" "{PMID:Payne 2000:11095597}" "" "2206_2207insT" "" "Germline" "" "" "0" "" "" "g.54626087dup" "" "pathogenic" "" "0000060304" "1" "90" "8" "55538674" "55538674" "subst" "0" "00228" "RP1_000050" "g.55538674T>A" "" "{PMID:Bowne 1999:10484783}" "" "" "" "Germline" "" "" "0" "" "" "g.54626114T>A" "" "pathogenic" "" "0000060305" "1" "90" "8" "55538674" "55538674" "subst" "0" "00228" "RP1_000050" "g.55538674T>A" "" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54626114T>A" "" "pathogenic" "" "0000060306" "1" "90" "8" "55538681" "55538681" "del" "0" "00228" "RP1_000051" "g.55538681del" "" "{PMID:Jacobson 2000:10845615}" "" "" "" "Germline" "" "" "0" "" "" "g.54626121del" "" "pathogenic" "" "0000060307" "1" "10" "8" "55542808" "55542808" "subst" "0.00027391" "00006" "RP1_000052" "g.55542808T>C" "1/56" "{PMID:Bowne 1999:10484783}" "" "I2122I" "found once" "Germline" "" "" "0" "" "" "g.54630248T>C" "" "benign" "" "0000060308" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Payne 2000:11095597}" "" "2284_2289del" "reported as 762fs*" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060309" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Bowne 1999:10484783}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060310" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Pierce 1999:10391211}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060311" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Jacobson 2000:10845615}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060312" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Payne 2000:11095597}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060313" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Berson 2001:11527933}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060314" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Sohocki 2001:11139241}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060315" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "Sullivan 2006" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060316" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Bowne 1999:10484783}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060317" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Bowne 1999:10484783}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060318" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Bowne 1999:10484783}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060319" "1" "90" "8" "55538727" "55538731" "del" "0" "00228" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Bowne 1999:10484783}" "" "2280_2284del" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000060320" "1" "90" "8" "55538729" "55538732" "del" "0" "00228" "RP1_000054" "g.55538729_55538732del" "" "{PMID:Pierce 1999:10391211}" "" "" "" "Germline" "" "" "0" "" "" "g.54626169_54626172del" "" "pathogenic" "" "0000060321" "1" "90" "8" "55538729" "55538732" "del" "0" "00228" "RP1_000054" "g.55538729_55538732del" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "" "" "0" "" "" "g.54626169_54626172del" "" "pathogenic" "" "0000060322" "1" "90" "8" "55538746" "55538746" "del" "0" "00228" "RP1_000055" "g.55538746del" "" "{PMID:Bowne 1999:10484783}" "" "2303delC" "" "Germline" "" "" "0" "" "" "g.54626186del" "" "pathogenic" "" "0000060323" "1" "90" "8" "55538746" "55538746" "del" "0" "00228" "RP1_000055" "g.55538746del" "" "{PMID:Sohocki 2001:11139241}" "" "2303delC" "" "Germline" "" "" "0" "" "" "g.54626186del" "" "pathogenic" "" "0000060324" "1" "90" "8" "55538774" "55538774" "subst" "0" "00228" "RP1_000056" "g.55538774A>T" "" "{PMID:Dietrich 2002:11864893}" "" "" "incomplete penetrence" "Germline" "" "" "0" "" "" "g.54626214A>T" "" "pathogenic" "" "0000060325" "1" "90" "8" "55538778" "55538779" "del" "0" "00228" "RP1_000057" "g.55538778_55538779del" "" "{PMID:Kawamura 2004:15183808}" "" "2336_2337delCT" "" "Germline" "" "" "0" "" "" "g.54626218_54626219del" "" "pathogenic" "" "0000060326" "1" "90" "8" "55539033" "55539042" "del" "0" "00228" "RP1_000058" "g.55539033_55539042del" "" "{PMID:Roberts 2006:16568030}" "" "2590_2599del" "incomplete penetrence" "Germline" "" "" "0" "" "" "g.54626473_54626482del" "" "pathogenic" "" "0000060327" "1" "90" "8" "55539036" "55539038" "del" "0" "00228" "RP1_000059" "g.55539036_55539038del" "" "{PMID:Payne 2000:11095597}" "" "" "reported as 865fs*" "Germline" "" "" "0" "" "" "g.54626476_54626478del" "" "pathogenic" "" "0000060328" "1" "90" "8" "55539055" "55539055" "dup" "0" "00228" "RP1_000060" "g.55539055dup" "" "{PMID:Payne 2000:11095597}" "" "2608_2609insA" "reported as 870fs*" "Germline" "" "" "0" "" "" "g.54626495dup" "" "pathogenic" "" "0000060329" "1" "90" "8" "55539174" "55539174" "subst" "0" "00228" "RP1_000061" "g.55539174C>A" "" "{PMID:Roberts 2006:16568030}" "" "" "incomplete penetrence" "Germline" "" "" "0" "" "" "g.54626614C>A" "" "pathogenic" "" "0000060330" "1" "90" "8" "55539289" "55539289" "del" "0" "00228" "RP1_000062" "g.55539289del" "" "{PMID:Singh 2009:19339744}" "" "" "" "Germline" "" "" "0" "" "" "g.54626729del" "" "pathogenic" "" "0000060331" "1" "90" "8" "55539599" "55539599" "del" "0" "00228" "RP1_000063" "g.55539599del" "" "{PMID:Jacobson 2000:10845615}" "" "" "" "Germline" "" "" "0" "" "" "g.54627039del" "" "pathogenic" "" "0000060332" "1" "90" "8" "55540550" "55540550" "subst" "2.44019E-5" "00228" "RP1_000064" "g.55540550A>G" "" "Zhang 2010" "" "" "" "Germline" "" "" "0" "" "" "g.54627990A>G" "" "pathogenic" "" "0000060333" "1" "90" "8" "55540997" "55540997" "del" "0" "00228" "RP1_000065" "g.55540997del" "" "{PMID:Riazuddin 2005:15980210}" "" "4703delA (Arg1519fsX1521)" "" "Germline" "" "" "0" "" "" "g.54628437del" "" "pathogenic" "" "0000060334" "2" "90" "8" "55540997" "55540997" "del" "0" "00228" "RP1_000065" "g.55540997del" "" "{PMID:Riazuddin 2005:15980210}" "" "4703delA (Arg1519fsX1521)" "" "Germline" "" "" "0" "" "" "g.54628437del" "" "pathogenic" "" "0000060335" "1" "90" "8" "55541397" "55541397" "subst" "1.21912E-5" "00228" "RP1_000066" "g.55541397G>T" "" "Zhang 2005" "" "" "" "Germline" "" "" "0" "" "" "g.54628837G>T" "" "pathogenic" "" "0000060336" "0" "50" "8" "55541397" "55541397" "subst" "1.21912E-5" "00228" "RP1_000066" "g.55541397G>T" "" "Zhang 2010" "" "" "conserved residue; no other family member" "Germline" "" "" "0" "" "" "g.54628837G>T" "" "VUS" "" "0000060337" "1" "90" "8" "55541694" "55541694" "del" "0" "00228" "RP1_000067" "g.55541694del" "" "{PMID:Riazuddin 2005:15980210}" "" "5400delA (Asn1751fsX1754)" "" "Germline" "" "" "0" "" "" "g.54629134del" "" "pathogenic" "" "0000060338" "2" "90" "8" "55541694" "55541694" "del" "0" "00228" "RP1_000067" "g.55541694del" "" "{PMID:Riazuddin 2005:15980210}" "" "5400delA (Asn1751fsX1754)" "" "Germline" "" "" "0" "" "" "g.54629134del" "" "pathogenic" "" "0000060339" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Bowne 1999:10484783}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060340" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Bowne 1999:10484783}" "" "2098G>T (Glu700X)" "figure shows other variant, as given" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060341" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "Guillonneau 1999" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060342" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Pierce 1999:10391211}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060343" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Sullivan 1999:10391212}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060344" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Jacobson 2000:10845615}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060345" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Payne 2000:11095597}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060346" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Baum 2001:11317367}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060347" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Berson 2001:11527933}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060348" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Sohocki 2001:11139241}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060349" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Xiaoli 2002:12901510}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060350" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "Schwartz 2003" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060351" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Ziviello 2005:15994872}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060352" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "Chiang 2006" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060353" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Gamundi 2006:16597330}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060354" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Roberts 2006:16568030}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060355" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "Sullivan 2006" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060356" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Bowne 1999:10484783}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060357" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Bowne 1999:10484783}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060358" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Bowne 1999:10484783}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060359" "1" "90" "8" "55538471" "55538471" "subst" "0" "00228" "RP1_000068" "g.55538471C>T" "" "{PMID:Bowne 1999:10484783}" "" "" "incomplete penetrance" "De novo" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000060360" "1" "90" "8" "55538447" "55538447" "subst" "0.000146846" "00228" "RP1_000069" "g.55538447G>A" "" "{PMID:Khaliq 2005:15863674}" "" "" "" "Germline" "" "" "0" "" "" "g.54625887G>A" "" "pathogenic" "" "0000060361" "1" "50" "8" "55534713" "55534713" "subst" "0.000300505" "00228" "RP1_000070" "g.55534713G>A" "" "{PMID:Berson 2001:11527933}" "" "" "no other family members available for co-segregation" "Germline" "" "" "0" "" "" "g.54622153G>A" "" "VUS" "" "0000060362" "1" "50" "8" "55537664" "55537664" "subst" "0" "00228" "RP1_000071" "g.55537664A>C" "" "Zhang 2010" "" "" "PolyPhen and SIFT benign; not in 190 controls" "Germline" "" "" "0" "" "" "g.54625104A>C" "" "VUS" "" "0000060363" "1" "50" "8" "55537879" "55537879" "subst" "4.06345E-5" "00228" "RP1_000072" "g.55537879G>T" "" "{PMID:Baum 2001:11317367}" "" "" "insufficient data to conclude whether associated with RP" "Germline" "" "" "0" "" "" "g.54625319G>T" "" "VUS" "" "0000060364" "1" "50" "8" "55537879" "55537879" "subst" "4.06345E-5" "00228" "RP1_000072" "g.55537879G>T" "" "Chiang 2006" "" "" "insufficient data to conclude whether associated with RP" "Germline" "" "" "0" "" "" "g.54625319G>T" "" "VUS" "" "0000060365" "1" "50" "8" "55538431" "55538431" "subst" "7.3533E-5" "00228" "RP1_000073" "g.55538431G>T" "" "{PMID:Bowne 1999:10484783}" "" "" "not in 1316 control chromosomes; no other family members for testing; non-conserved residue in human and mouse" "Germline" "" "" "0" "" "" "g.54625871G>T" "" "VUS" "" "0000060366" "1" "50" "8" "55538431" "55538431" "subst" "7.3533E-5" "00228" "RP1_000073" "g.55538431G>T" "" "{PMID:Payne 2000:11095597}" "" "" "no other family members for testing; non-conserved residue in human and mouse" "Germline" "" "" "0" "" "" "g.54625871G>T" "" "VUS" "" "0000060367" "0" "50" "8" "55538835" "55538835" "subst" "0" "00228" "RP1_000074" "g.55538835G>C" "" "{PMID:Payne 2000:11095597}" "" "" "no other family members; Arg not conserved" "Germline" "" "" "0" "" "" "g.54626275G>C" "" "VUS" "" "0000060368" "1" "50" "8" "55538818" "55538818" "subst" "0" "00228" "RP1_000075" "g.55538818A>C" "" "{PMID:Payne 2000:11095597}" "" "" "no other family members; Lys conserved" "Germline" "" "" "0" "" "" "g.54626258A>C" "" "VUS" "" "0000060369" "1" "50" "8" "55539142" "55539142" "subst" "0" "00228" "RP1_000076" "g.55539142A>C" "" "{PMID:Payne 2000:11095597}" "" "" "conserved residue; no other family members" "Germline" "" "" "0" "" "" "g.54626582A>C" "" "VUS" "" "0000060370" "1" "50" "8" "55539149" "55539149" "subst" "0" "00228" "RP1_000077" "g.55539149T>A" "" "Sheng 2008" "" "" "2 affected carriers and unaffected non-carrier" "Germline" "" "" "0" "" "" "g.54626589T>A" "" "VUS" "" "0000060371" "1" "50" "8" "55539149" "55539149" "subst" "0" "00228" "RP1_000077" "g.55539149T>A" "" "Sheng 2008" "" "" "1 affected and one at-risk individual, incomplete penetrance" "Germline" "" "" "0" "" "" "g.54626589T>A" "" "VUS" "" "0000060372" "1" "50" "8" "55541865" "55541865" "subst" "4.0792E-6" "00228" "RP1_000078" "g.55541865T>C" "" "{PMID:Bowne 1999:10484783}" "" "" "not in 182 control chromosomes; no other family members for testing" "Germline" "" "" "0" "" "" "g.54629305T>C" "" "VUS" "" "0000060373" "1" "50" "8" "55542780" "55542780" "subst" "0.000224846" "00228" "RP1_000079" "g.55542780C>A" "" "{PMID:Payne 2000:11095597}" "" "" "no other family members for testing" "Germline" "" "" "0" "" "" "g.54630220C>A" "" "VUS" "" "0000060374" "1" "50" "8" "55542780" "55542780" "subst" "0.000224846" "00228" "RP1_000079" "g.55542780C>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "no other family members for testing" "Germline" "" "" "0" "" "" "g.54630220C>A" "" "VUS" "" "0000060375" "1" "30" "8" "55534028" "55534028" "subst" "0" "00228" "RP1_000080" "g.55534028C>G" "" "{PMID:Berson 2001:11527933}" "" "" "" "Germline" "no" "" "0" "" "" "g.54621468C>G" "" "likely benign" "" "0000060376" "0" "30" "8" "55534882" "55534882" "subst" "8.99178E-5" "00228" "RP1_000081" "g.55534882T>C" "" "Zhang 2010" "" "" "no evidence to be pathogenic" "Germline" "" "" "0" "" "" "g.54622322T>C" "" "likely benign" "" "0000060377" "0" "10" "8" "55534671" "55534671" "subst" "0.00511348" "00006" "RP1_000082" "g.55534671T>C" "1/266 cases" "{PMID:Payne 2000:11095597}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.54622111T>C" "" "benign" "" "0000060378" "1" "50" "8" "55534671" "55534671" "subst" "0.00511348" "00229" "RP1_000082" "g.55534671T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.54622111T>C" "" "VUS" "" "0000060379" "1" "50" "8" "55534671" "55534671" "subst" "0.00511348" "00229" "RP1_000082" "g.55534671T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.54622111T>C" "" "VUS" "" "0000060380" "0" "10" "8" "55537162" "55537162" "subst" "0" "00006" "RP1_000083" "g.55537162T>C" "109/266 cases" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54624602T>C" "" "benign" "" "0000060381" "0" "10" "8" "55537162" "55537162" "subst" "0" "00006" "RP1_000083" "g.55537162T>C" "48/100 controls" "{PMID:Payne 2000:11095597}" "" "" "" "Germline" "" "" "0" "" "" "g.54624602T>C" "" "benign" "" "0000060382" "0" "10" "8" "55538821" "55538821" "subst" "0" "00006" "RP1_000084" "g.55538821A>G" "1/266 cases" "{PMID:Payne 2000:11095597}" "" "2381A>G" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.54626261A>G" "" "benign" "" "0000060383" "0" "10" "8" "55539454" "55539454" "subst" "0" "00006" "RP1_000086" "g.55539454C>G" "1/266 cases" "{PMID:Payne 2000:11095597}" "" "3011C>G (L1004L)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.54626894C>G" "" "benign" "" "0000060384" "0" "10" "8" "55543092" "55543094" "del" "0" "00006" "RP1_000087" "g.55543092_55543094del" "1/266 cases" "{PMID:Payne 2000:11095597}" "" "6470+178-180del" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000060385" "1" "10" "8" "55541450" "55541450" "subst" "0.258505" "00006" "RP1_000088" "g.55541450G>A" "93/266 cases" "{PMID:Payne 2000:11095597}" "" "5009G>A" "" "Germline" "" "" "0" "" "" "g.54628890G>A" "" "benign" "" "0000060386" "1" "10" "8" "55541450" "55541450" "subst" "0.258505" "00006" "RP1_000088" "g.55541450G>A" "38/100 controls" "{PMID:Payne 2000:11095597}" "" "5009G>A" "" "Germline" "" "" "0" "" "" "g.54628890G>A" "" "benign" "" "0000060387" "11" "90" "8" "55541450" "55541450" "subst" "0.258505" "00039" "RP1_000088" "g.55541450G>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.54628890G>A" "" "pathogenic" "" "0000060388" "20" "90" "8" "55541450" "55541450" "subst" "0.258505" "00039" "RP1_000088" "g.55541450G>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.54628890G>A" "" "pathogenic" "" "0000060389" "1" "10" "8" "55541513" "55541513" "subst" "0.276351" "00006" "RP1_000089" "g.55541513T>C" "93/266 cases" "{PMID:Payne 2000:11095597}" "" "5070T>C" "" "Germline" "" "" "0" "" "" "g.54628953T>C" "" "benign" "" "0000060390" "0" "10" "8" "55541513" "55541513" "subst" "0.276351" "00006" "RP1_000089" "g.55541513T>C" "13/266 cases" "{PMID:Payne 2000:11095597}" "" "5070T>C" "" "Germline" "" "" "0" "" "" "g.54628953T>C" "" "benign" "" "0000060391" "1" "10" "8" "55541513" "55541513" "subst" "0.276351" "00006" "RP1_000089" "g.55541513T>C" "38/100 controls" "{PMID:Payne 2000:11095597}" "" "5070T>C" "" "Germline" "" "" "0" "" "" "g.54628953T>C" "" "benign" "" "0000060392" "1" "90" "8" "55533894" "55533895" "dup" "0" "00229" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "" "" "0" "" "" "g.54621334_54621335dup" "" "pathogenic" "" "0000060393" "2" "90" "8" "55540684" "55540685" "del" "0" "00229" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Neveling 2012:22334370}" "" "4241_4242del" "" "Germline" "" "" "0" "" "" "g.54628124_54628125del" "" "pathogenic" "" "0000060394" "11" "90" "8" "55540684" "55540685" "del" "0" "00039" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.54628124_54628125del" "" "pathogenic" "" "0000060395" "2" "90" "8" "55540684" "55540685" "del" "0" "00039" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.54628124_54628125del" "" "pathogenic" "" "0000060396" "1" "90" "8" "55540684" "55540685" "del" "0" "00039" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.54628124_54628125del" "" "pathogenic" "" "0000060397" "2" "90" "8" "55540684" "55540685" "del" "0" "00039" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.54628124_54628125del" "" "pathogenic" "" "0000060398" "1" "50" "8" "55541177" "55541177" "subst" "6.09617E-5" "00229" "RP1_000092" "g.55541177T>G" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "" "" "0" "" "" "g.54628617T>G" "" "VUS" "" "0000060399" "1" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00229" "RP1_000093" "g.55534041T>G" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "" "0000060400" "2" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00229" "RP1_000093" "g.55534041T>G" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "" "0000060401" "10" "90" "8" "55539838" "55539838" "subst" "8.13273E-6" "00039" "RP1_000094" "g.55539838G>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.54627278G>A" "" "pathogenic" "" "0000060402" "20" "90" "8" "55539838" "55539838" "subst" "8.13273E-6" "00039" "RP1_000094" "g.55539838G>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.54627278G>A" "" "pathogenic" "" "0000060403" "11" "90" "8" "55537454" "55537454" "subst" "0" "00039" "RP1_000097" "g.55537454C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "1160C>T" "" "Germline" "" "" "0" "" "" "g.54624894C>T" "" "pathogenic" "" "0000060404" "2" "90" "8" "55537454" "55537454" "subst" "0" "00039" "RP1_000097" "g.55537454C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "1160C>T" "" "Germline" "" "" "0" "" "" "g.54624894C>T" "" "pathogenic" "" "0000060405" "10" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00142" "RP1_000098" "g.55538067C>G" "" "{PMID:Avila-Fernandez 2012:22917891}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000060406" "20" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00142" "RP1_000098" "g.55538067C>G" "" "{PMID:Avila-Fernandez 2012:22917891}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000060407" "10" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00142" "RP1_000098" "g.55538067C>G" "" "{PMID:Avila-Fernandez 2012:22917891}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000060408" "20" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00142" "RP1_000098" "g.55538067C>G" "" "{PMID:Avila-Fernandez 2012:22917891}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000060409" "10" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00142" "RP1_000098" "g.55538067C>G" "" "{PMID:Avila-Fernandez 2012:22917891}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000060410" "20" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00142" "RP1_000098" "g.55538067C>G" "" "{PMID:Avila-Fernandez 2012:22917891}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000158318" "3" "90" "8" "55540997" "55540997" "del" "0" "01769" "RP1_000099" "g.55540997del" "" "{PMID:Li 2017:28418496}" "" "4555delA" "" "Germline" "yes" "" "0" "" "" "g.54628437del" "" "pathogenic" "" "0000158344" "3" "90" "8" "55537900" "55537903" "dup" "0" "01769" "RP1_000005" "g.55537900_55537903dup" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54625340_54625343dup" "" "pathogenic" "" "0000158346" "3" "90" "8" "55541694" "55541694" "del" "0" "01769" "RP1_000100" "g.55541694del" "" "{PMID:Li 2017:28418496}" "" "5252delA" "" "Germline" "yes" "" "0" "" "" "g.54629134del" "" "pathogenic" "" "0000162778" "3" "90" "8" "55537568" "55537568" "subst" "1.62536E-5" "01769" "RP1_000102" "g.55537568C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54625008C>T" "" "pathogenic" "" "0000162782" "3" "90" "8" "55540139" "55540139" "del" "0" "01769" "RP1_000103" "g.55540139del" "" "{PMID:Li 2017:28418496}" "" "3697delT" "" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "pathogenic" "" "0000162793" "3" "90" "8" "55542540" "55542540" "subst" "0.337314" "01769" "RP1_000104" "g.55542540G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54629980G>A" "" "pathogenic" "" "0000162817" "3" "90" "8" "55534849" "55534849" "subst" "0" "01769" "RP1_000101" "g.55534849G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54622289G>A" "" "pathogenic" "" "0000246739" "0" "30" "8" "55540863" "55540863" "subst" "0" "02330" "RP1_000145" "g.55540863A>G" "" "" "" "RP1(NM_006269.2):c.4421A>G (p.H1474R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628303A>G" "" "likely benign" "" "0000248606" "0" "10" "8" "55541617" "55541617" "subst" "0.256953" "02325" "RP1_000129" "g.55541617A>G" "" "" "" "RP1(NM_006269.2):c.5175A>G (p.Q1725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54629057A>G" "" "benign" "" "0000255896" "0" "50" "8" "55539066" "55539066" "subst" "4.06855E-6" "01943" "RP1_000119" "g.55539066A>T" "" "" "" "RP1(NM_006269.1):c.2624A>T (p.D875V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626506A>T" "" "VUS" "" "0000255906" "0" "50" "8" "55540579" "55540579" "subst" "0" "01943" "RP1_000128" "g.55540579A>T" "" "" "" "RP1(NM_006269.1):c.4137A>T (p.E1379D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628019A>T" "" "VUS" "" "0000255972" "0" "50" "8" "55533933" "55533933" "subst" "1.2484E-5" "01943" "RP1_000109" "g.55533933A>C" "" "" "" "RP1(NM_006269.1):c.407A>C (p.H136P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54621373A>C" "" "VUS" "" "0000256351" "0" "50" "8" "55540074" "55540074" "subst" "0" "01943" "RP1_000124" "g.55540074A>C" "" "" "" "RP1(NM_006269.1):c.3632A>C (p.N1211T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54627514A>C" "" "VUS" "" "0000256424" "0" "50" "8" "55541616" "55541616" "subst" "1.21892E-5" "01943" "RP1_000150" "g.55541616A>T" "" "" "" "RP1(NM_006269.1):c.5174A>T (p.Q1725L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54629056A>T" "" "VUS" "" "0000256674" "0" "50" "8" "55537935" "55537935" "subst" "0" "01943" "RP1_000114" "g.55537935A>C" "" "" "" "RP1(NM_006269.1):c.1493A>C (p.Y498S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54625375A>C" "" "VUS" "" "0000294888" "0" "30" "8" "55538071" "55538071" "subst" "5.69842E-5" "02330" "RP1_000115" "g.55538071T>C" "" "" "" "RP1(NM_006269.2):c.1629T>C (p.S543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54625511T>C" "" "likely benign" "" "0000294889" "0" "50" "8" "55538447" "55538447" "subst" "0.000146846" "02330" "RP1_000069" "g.55538447G>A" "" "" "" "RP1(NM_006269.2):c.2005G>A (p.A669T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54625887G>A" "" "VUS" "" "0000294890" "0" "90" "8" "55538471" "55538471" "subst" "0" "02330" "RP1_000068" "g.55538471C>T" "" "" "" "RP1(NM_006269.2):c.2029C>T (p.R677*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000294891" "0" "10" "8" "55538697" "55538697" "subst" "0.00218278" "02330" "RP1_000010" "g.55538697C>T" "" "" "" "RP1(NM_006269.1):c.2255C>T (p.T752M), RP1(NM_006269.2):c.2255C>T (p.T752M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626137C>T" "" "benign" "" "0000294892" "0" "90" "8" "55538727" "55538731" "del" "0" "02330" "RP1_000117" "g.55538727_55538731del" "" "" "" "RP1(NM_006269.1):c.2285_2289delTAAAT (p.L762Yfs*17), RP1(NM_006269.2):c.2285_2289delTAAAT (p.L762Yfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000294893" "0" "10" "8" "55533754" "55533754" "subst" "0.0010518" "02330" "RP1_000107" "g.55533754C>T" "" "" "" "RP1(NM_006269.1):c.228C>T (p.L76=), RP1(NM_006269.2):c.228C>T (p.L76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54621194C>T" "" "benign" "" "0000294894" "0" "90" "8" "55538872" "55538872" "subst" "0" "02330" "RP1_000118" "g.55538872C>A" "" "" "" "RP1(NM_006269.1):c.2430C>A (p.C810*), RP1(NM_006269.2):c.2430C>A (p.C810*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626312C>A" "" "pathogenic" "" "0000294895" "0" "30" "8" "55539124" "55539124" "subst" "2.03731E-5" "02330" "RP1_000120" "g.55539124T>G" "" "" "" "RP1(NM_006269.2):c.2682T>G (p.S894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626564T>G" "" "likely benign" "" "0000294896" "0" "10" "8" "55539275" "55539275" "subst" "0.00303632" "02330" "RP1_000122" "g.55539275G>T" "" "" "" "RP1(NM_006269.2):c.2833G>T (p.V945L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626715G>T" "" "benign" "" "0000294897" "0" "10" "8" "55539433" "55539433" "subst" "0.00185952" "02330" "RP1_000123" "g.55539433T>C" "" "" "" "RP1(NM_006269.1):c.2991T>C (p.N997=), RP1(NM_006269.2):c.2991T>C (p.N997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626873T>C" "" "benign" "" "0000294899" "0" "10" "8" "55540441" "55540441" "subst" "0.00108057" "02330" "RP1_000127" "g.55540441C>T" "" "" "" "RP1(NM_006269.1):c.3999C>T (p.Y1333=), RP1(NM_006269.2):c.3999C>T (p.Y1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54627881C>T" "" "benign" "" "0000294900" "0" "30" "8" "55540692" "55540692" "subst" "0.00135913" "02330" "RP1_000016" "g.55540692T>C" "" "" "" "RP1(NM_006269.1):c.4250T>C (p.L1417P), RP1(NM_006269.2):c.4250T>C (p.L1417P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628132T>C" "" "likely benign" "" "0000294901" "0" "50" "8" "55541396" "55541396" "subst" "0.000292554" "02330" "RP1_000148" "g.55541396C>T" "" "" "" "RP1(NM_006269.2):c.4954C>T (p.R1652C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628836C>T" "" "VUS" "" "0000294902" "0" "30" "8" "55541508" "55541508" "subst" "0.00119851" "02330" "RP1_000149" "g.55541508G>A" "" "" "" "RP1(NM_006269.1):c.5066G>A (p.S1689N), RP1(NM_006269.2):c.5066G>A (p.S1689N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628948G>A" "" "likely benign" "" "0000294903" "0" "50" "8" "55542115" "55542115" "subst" "0.000204225" "02330" "RP1_000153" "g.55542115G>T" "" "" "" "RP1(NM_006269.1):c.5673G>T (p.L1891F), RP1(NM_006269.2):c.5673G>T (p.L1891F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54629555G>T" "" "VUS" "" "0000294904" "0" "10" "8" "55534157" "55534157" "subst" "0.000501274" "02330" "RP1_000112" "g.55534157G>T" "" "" "" "RP1(NM_006269.2):c.615+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54621597G>T" "" "benign" "" "0000294905" "0" "10" "8" "55534144" "55534144" "subst" "0.000348913" "02330" "RP1_000111" "g.55534144G>A" "" "" "" "RP1(NM_006269.2):c.615+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54621584G>A" "" "benign" "" "0000294906" "0" "10" "8" "55542808" "55542808" "subst" "0.00027391" "02330" "RP1_000052" "g.55542808T>C" "" "" "" "RP1(NM_006269.2):c.6366T>C (p.I2122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54630248T>C" "" "benign" "" "0000297714" "0" "10" "8" "55539057" "55539057" "subst" "0.274715" "02325" "RP1_000034" "g.55539057G>A" "" "" "" "RP1(NM_006269.2):c.2615G>A (p.R872H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626497G>A" "" "benign" "" "0000297715" "0" "10" "8" "55541450" "55541450" "subst" "0.258505" "02325" "RP1_000088" "g.55541450G>A" "" "" "" "RP1(NM_006269.2):c.5008G>A (p.A1670T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628890G>A" "" "benign" "" "0000297716" "0" "10" "8" "55541513" "55541513" "subst" "0.276351" "02325" "RP1_000089" "g.55541513T>C" "" "" "" "RP1(NM_006269.2):c.5071T>C (p.S1691P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628953T>C" "" "benign" "" "0000297717" "0" "10" "8" "55632762" "55632762" "subst" "0.355355" "02325" "RP1_000229" "g.55632762C>T" "" "" "" "RP1(NM_001375654.1):c.2285C>T (p.T762M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54720202C>T" "" "benign" "" "0000307207" "0" "50" "8" "55537822" "55537822" "subst" "5.28649E-5" "01943" "RP1_000113" "g.55537822G>C" "" "" "" "RP1(NM_006269.1):c.1380G>C (p.K460N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54625262G>C" "" "VUS" "" "0000307208" "0" "50" "8" "55533686" "55533686" "subst" "0.000174608" "01943" "RP1_000106" "g.55533686G>A" "" "" "" "RP1(NM_006269.1):c.160G>A (p.V54M), RP1(NM_006269.2):c.160G>A (p.(Val54Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54621126G>A" "" "VUS" "" "0000307209" "0" "50" "8" "55538458" "55538458" "subst" "3.26046E-5" "01943" "RP1_000116" "g.55538458G>T" "" "" "" "RP1(NM_006269.1):c.2016G>T (p.K672N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54625898G>T" "" "VUS" "" "0000307210" "0" "30" "8" "55538697" "55538697" "subst" "0.00218278" "01943" "RP1_000010" "g.55538697C>T" "" "" "" "RP1(NM_006269.1):c.2255C>T (p.T752M), RP1(NM_006269.2):c.2255C>T (p.T752M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626137C>T" "" "likely benign" "" "0000307211" "0" "30" "8" "55533754" "55533754" "subst" "0.0010518" "01943" "RP1_000107" "g.55533754C>T" "" "" "" "RP1(NM_006269.1):c.228C>T (p.L76=), RP1(NM_006269.2):c.228C>T (p.L76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54621194C>T" "" "likely benign" "" "0000307212" "0" "90" "8" "55538872" "55538872" "subst" "0" "01943" "RP1_000118" "g.55538872C>A" "" "" "" "RP1(NM_006269.1):c.2430C>A (p.C810*), RP1(NM_006269.2):c.2430C>A (p.C810*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626312C>A" "" "pathogenic" "" "0000307213" "0" "50" "8" "55539197" "55539197" "subst" "0" "01943" "RP1_000121" "g.55539197T>G" "" "" "" "RP1(NM_006269.1):c.2755T>G (p.W919G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626637T>G" "" "VUS" "" "0000307214" "0" "30" "8" "55539433" "55539433" "subst" "0.00185952" "01943" "RP1_000123" "g.55539433T>C" "" "" "" "RP1(NM_006269.1):c.2991T>C (p.N997=), RP1(NM_006269.2):c.2991T>C (p.N997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626873T>C" "" "likely benign" "" "0000307215" "0" "50" "8" "55540098" "55540098" "subst" "1.21964E-5" "01943" "RP1_000125" "g.55540098G>A" "" "" "" "RP1(NM_006269.1):c.3656G>A (p.S1219N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54627538G>A" "" "VUS" "" "0000307216" "0" "30" "8" "55540692" "55540692" "subst" "0.00135913" "01943" "RP1_000016" "g.55540692T>C" "" "" "" "RP1(NM_006269.1):c.4250T>C (p.L1417P), RP1(NM_006269.2):c.4250T>C (p.L1417P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628132T>C" "" "likely benign" "" "0000307217" "0" "30" "8" "55541007" "55541007" "subst" "0.00118571" "01943" "RP1_000146" "g.55541007G>A" "" "" "" "RP1(NM_006269.1):c.4565G>A (p.G1522D), RP1(NM_006269.2):c.4565G>A (p.G1522D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628447G>A" "" "likely benign" "" "0000307218" "0" "50" "8" "55541190" "55541190" "subst" "8.12856E-6" "01943" "RP1_000147" "g.55541190T>A" "" "" "" "RP1(NM_006269.1):c.4748T>A (p.I1583N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628630T>A" "" "VUS" "" "0000307219" "0" "50" "8" "55534013" "55534013" "subst" "0.000751065" "01943" "RP1_000110" "g.55534013G>A" "" "" "" "RP1(NM_006269.1):c.487G>A (p.D163N), RP1(NM_006269.2):c.487G>A (p.D163N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54621453G>A" "" "VUS" "" "0000307220" "0" "50" "8" "55542066" "55542066" "subst" "0.00101606" "01943" "RP1_000151" "g.55542066G>C" "" "" "" "RP1(NM_006269.1):c.5624G>C (p.G1875A), RP1(NM_006269.2):c.5624G>C (p.G1875A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54629506G>C" "" "VUS" "" "0000307221" "0" "30" "8" "55542076" "55542076" "subst" "0" "01943" "RP1_000152" "g.55542076C>A" "" "" "" "RP1(NM_006269.1):c.5634C>A (p.V1878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54629516C>A" "" "likely benign" "" "0000307222" "0" "30" "8" "55534671" "55534671" "subst" "0.00511348" "01943" "RP1_000082" "g.55534671T>C" "" "" "" "RP1(NM_006269.1):c.616-6T>C, RP1(NM_006269.2):c.616-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54622111T>C" "" "likely benign" "" "0000307223" "0" "50" "8" "55542638" "55542638" "subst" "0.000500338" "01943" "RP1_000023" "g.55542638G>A" "" "" "" "RP1(NM_006269.1):c.6196G>A (p.D2066N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54630078G>A" "" "VUS" "" "0000332131" "0" "50" "8" "55540427" "55540427" "subst" "0" "01804" "RP1_000126" "g.55540427A>G" "" "" "" "RP1(NM_006269.1):c.3985A>G (p.(Ile1329Val)), RP1(NM_006269.2):c.3985A>G (p.I1329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54627867A>G" "" "VUS" "" "0000339153" "0" "50" "8" "55539353" "55539353" "subst" "4.06742E-6" "02327" "RP1_000140" "g.55539353A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626793A>G" "" "VUS" "" "0000343444" "0" "10" "8" "55539057" "55539057" "subst" "0.274715" "02327" "RP1_000034" "g.55539057G>A" "" "" "" "RP1(NM_006269.2):c.2615G>A (p.R872H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626497G>A" "" "benign" "" "0000343854" "0" "10" "8" "55539395" "55539395" "subst" "0.345024" "02327" "RP1_000011" "g.55539395A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626835A>T" "" "benign" "" "0000343988" "0" "50" "8" "55542638" "55542638" "subst" "0.000500338" "02327" "RP1_000023" "g.55542638G>A" "" "" "" "RP1(NM_006269.1):c.6196G>A (p.D2066N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54630078G>A" "" "VUS" "" "0000344304" "0" "10" "8" "55542540" "55542540" "subst" "0.337314" "02327" "RP1_000104" "g.55542540G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54629980G>A" "" "benign" "" "0000344546" "0" "90" "8" "55540547" "55540547" "subst" "4.06696E-6" "02327" "RP1_000142" "g.55540547C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54627987C>T" "" "pathogenic" "" "0000347645" "0" "90" "8" "55538816" "55538816" "subst" "0" "02327" "RP1_000138" "g.55538816A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626256A>T" "" "pathogenic" "" "0000347971" "0" "50" "8" "55534065" "55534065" "subst" "8.20412E-6" "02327" "RP1_000132" "g.55534065T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54621505T>G" "" "VUS" "" "0000347976" "0" "50" "8" "55542247" "55542247" "subst" "0.000146642" "02327" "RP1_000021" "g.55542247T>G" "" "" "" "RP1(NM_006269.1):c.5805T>G (p.(Phe1935Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54629687T>G" "" "VUS" "" "0000348773" "0" "10" "8" "55541513" "55541513" "subst" "0.276351" "02327" "RP1_000089" "g.55541513T>C" "" "" "" "RP1(NM_006269.2):c.5071T>C (p.S1691P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54628953T>C" "" "benign" "" "0000349047" "0" "90" "8" "55537893" "55537893" "subst" "0" "02327" "RP1_000134" "g.55537893C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54625333C>A" "" "pathogenic" "" "0000349147" "0" "50" "8" "55538592" "55538592" "subst" "8.13035E-6" "02327" "RP1_000136" "g.55538592C>T" "" "" "" "RP1(NM_006269.1):c.2150C>T (p.S717L, p.(Ser717Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626032C>T" "" "VUS" "" "0000349210" "0" "90" "8" "55539174" "55539174" "subst" "0" "02327" "RP1_000139" "g.55539174C>G" "" "" "" "RP1(NM_006269.2):c.2732C>G (p.S911*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54626614C>G" "" "pathogenic" "" "0000358330" "3" "90" "8" "55534749" "55534749" "subst" "0" "01243" "RP1_000144" "g.55534749G>T" "" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.54622189G>T" "" "pathogenic (recessive)" "" "0000438343" "3" "90" "8" "55534132" "55534132" "subst" "0" "01244" "RP1_000040" "g.55534132C>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.54621572C>A" "" "pathogenic (recessive)" "" "0000438561" "3" "90" "8" "55534132" "55534132" "subst" "0" "01244" "RP1_000040" "g.55534132C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.54621572C>A" "" "pathogenic" "" "0000438562" "3" "90" "8" "55534132" "55534132" "subst" "0" "01244" "RP1_000040" "g.55534132C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.54621572C>A" "" "pathogenic" "" "0000476858" "0" "50" "8" "55533782" "55533782" "subst" "7.31119E-5" "02591" "RP1_000154" "g.55533782C>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs757674289" "0" "" "" "g.54621222C>A" "" "VUS" "" "0000476859" "0" "50" "8" "55533907" "55533907" "subst" "1.24904E-5" "02591" "RP1_000155" "g.55533907G>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54621347G>T" "" "VUS" "" "0000476860" "0" "50" "8" "55533918" "55533918" "subst" "1.66707E-5" "02591" "RP1_000156" "g.55533918G>A" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs752150870" "0" "" "" "g.54621358G>A" "" "VUS" "" "0000476861" "0" "50" "8" "55533932" "55533932" "subst" "0" "02591" "RP1_000157" "g.55533932C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54621372C>T" "" "VUS" "" "0000476862" "0" "50" "8" "55533950" "55533950" "subst" "2.07147E-5" "02591" "RP1_000158" "g.55533950G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs367600337" "0" "" "" "g.54621390G>A" "" "VUS" "" "0000476863" "0" "50" "8" "55533969" "55533969" "subst" "0" "02591" "RP1_000159" "g.55533969G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs866545331" "0" "" "" "g.54621409G>A" "" "VUS" "" "0000476864" "0" "90" "8" "55533978" "55533978" "del" "0" "02591" "RP1_000160" "g.55533978del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54621418del" "" "pathogenic" "" "0000476865" "0" "50" "8" "55534044" "55534044" "subst" "8.2054E-6" "02591" "RP1_000161" "g.55534044G>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs777942139" "0" "" "" "g.54621484G>T" "" "VUS" "" "0000476866" "0" "90" "8" "55534709" "55534709" "del" "0" "02591" "RP1_000162" "g.55534709del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236105" "0" "" "" "g.54622149del" "" "pathogenic" "" "0000476867" "3" "90" "8" "55537442" "55537442" "dup" "0" "02591" "RP1_000163" "g.55537442dup" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54624882dup" "" "pathogenic" "" "0000476868" "0" "90" "8" "55537489" "55537489" "subst" "0" "02591" "RP1_000164" "g.55537489G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54624929G>A" "" "pathogenic" "" "0000476869" "0" "50" "8" "55537520" "55537520" "subst" "2.43833E-5" "02591" "RP1_000165" "g.55537520A>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs180915324" "0" "" "" "g.54624960A>C" "" "VUS" "" "0000476870" "0" "50" "8" "55537554" "55537554" "subst" "0" "02591" "RP1_000166" "g.55537554G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54624994G>T" "" "VUS" "" "0000476871" "0" "50" "8" "55537635" "55537635" "subst" "1.2194E-5" "02591" "RP1_000167" "g.55537635G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs752444813" "0" "" "" "g.54625075G>A" "" "VUS" "" "0000476872" "0" "50" "8" "55537938" "55537938" "subst" "0" "02591" "RP1_000168" "g.55537938A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54625378A>C" "" "VUS" "" "0000476873" "0" "90" "8" "55537940" "55537941" "del" "1.62573E-5" "02591" "RP1_000169" "g.55537940_55537941del" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs765129639" "0" "" "" "g.54625380_54625381del" "" "pathogenic" "" "0000476874" "0" "50" "8" "55538008" "55538008" "subst" "0" "02591" "RP1_000170" "g.55538008C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54625448C>G" "" "VUS" "" "0000476875" "0" "50" "8" "55538325" "55538325" "subst" "0" "02591" "RP1_000171" "g.55538325A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54625765A>G" "" "VUS" "" "0000476876" "0" "90" "8" "55538423" "55538423" "subst" "0" "02591" "RP1_000172" "g.55538423G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54625863G>T" "" "pathogenic" "" "0000476877" "0" "90" "8" "55538471" "55538471" "subst" "0" "02591" "RP1_000068" "g.55538471C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs104894082" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000476878" "0" "90" "8" "55538474" "55538474" "subst" "4.07037E-6" "02591" "RP1_000173" "g.55538474C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54625914C>T" "" "pathogenic" "" "0000476879" "0" "90" "8" "55538507" "55538507" "subst" "0" "02591" "RP1_000029" "g.55538507C>T" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54625947C>T" "" "pathogenic" "" "0000476880" "0" "50" "8" "55538558" "55538558" "subst" "0.000325362" "02591" "RP1_000009" "g.55538558G>C" "3/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199879316" "0" "" "" "g.54625998G>C" "" "VUS" "" "0000476881" "0" "90" "8" "55538661" "55538661" "subst" "0" "02591" "RP1_000174" "g.55538661C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626101C>G" "" "pathogenic" "" "0000476882" "0" "50" "8" "55538694" "55538694" "subst" "0" "02591" "RP1_000175" "g.55538694C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626134C>T" "" "VUS" "" "0000476883" "0" "50" "8" "55538819" "55538819" "subst" "4.07043E-6" "02591" "RP1_000176" "g.55538819A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs777642457" "0" "" "" "g.54626259A>G" "" "VUS" "" "0000476884" "0" "90" "8" "55539034" "55539038" "del" "0" "02591" "RP1_000177" "g.55539034_55539038del" "1/1200 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626474_54626478del" "" "pathogenic" "" "0000476885" "0" "90" "8" "55539036" "55539036" "del" "0" "02591" "RP1_000178" "g.55539036del" "1/1200 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626476del" "" "pathogenic" "" "0000476886" "0" "50" "8" "55539041" "55539041" "subst" "0" "02591" "RP1_000179" "g.55539041A>C" "1/1200 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626481A>C" "" "VUS" "" "0000476887" "0" "90" "8" "55539041" "55539041" "subst" "0" "02591" "RP1_000180" "g.55539041A>T" "1/1199 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626481A>T" "" "pathogenic" "" "0000476888" "0" "90" "8" "55539049" "55539049" "dup" "0" "02591" "RP1_000181" "g.55539049dup" "5/1200 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626489dup" "" "pathogenic" "" "0000476889" "0" "10" "8" "55539057" "55539057" "subst" "0.274715" "02591" "RP1_000034" "g.55539057G>A" "575/1196 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs444772" "0" "" "" "g.54626497G>A" "" "benign" "" "0000476890" "0" "50" "8" "55539146" "55539146" "subst" "0" "02591" "RP1_000182" "g.55539146G>A" "1/1200 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs868608354" "0" "" "" "g.54626586G>A" "" "VUS" "" "0000476891" "0" "50" "8" "55539162" "55539162" "subst" "1.22325E-5" "02591" "RP1_000183" "g.55539162T>C" "1/1200 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs756250298" "0" "" "" "g.54626602T>C" "" "VUS" "" "0000476892" "0" "50" "8" "55539272" "55539272" "subst" "4.07067E-6" "02591" "RP1_000184" "g.55539272G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs765037580" "0" "" "" "g.54626712G>A" "" "VUS" "" "0000476893" "0" "50" "8" "55539336" "55539336" "subst" "0.000353981" "02591" "RP1_000185" "g.55539336G>T" "78/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201110322" "0" "" "" "g.54626776G>T" "" "VUS" "" "0000476894" "0" "50" "8" "55539365" "55539365" "subst" "6.10098E-5" "02591" "RP1_000186" "g.55539365A>G" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202016292" "0" "" "" "g.54626805A>G" "" "VUS" "" "0000476895" "0" "50" "8" "55539375" "55539375" "subst" "0" "02591" "RP1_000187" "g.55539375T>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626815T>A" "" "VUS" "" "0000476896" "0" "50" "8" "55539393" "55539393" "subst" "9.75967E-5" "02591" "RP1_000039" "g.55539393A>G" "10/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200135800" "0" "" "" "g.54626833A>G" "" "VUS" "" "0000476897" "0" "10" "8" "55539395" "55539395" "subst" "0.345024" "02591" "RP1_000011" "g.55539395A>T" "211/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2293869" "0" "" "" "g.54626835A>T" "" "benign" "" "0000476898" "0" "50" "8" "55539402" "55539402" "subst" "4.06739E-6" "02591" "RP1_000188" "g.55539402G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs747536867" "0" "" "" "g.54626842G>A" "" "VUS" "" "0000476899" "0" "90" "8" "55539439" "55539439" "del" "0" "02591" "RP1_000189" "g.55539439del" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54626879del" "" "pathogenic" "" "0000476900" "0" "50" "8" "55539597" "55539597" "subst" "2.03171E-5" "02591" "RP1_000190" "g.55539597T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs546212290" "0" "" "" "g.54627037T>C" "" "VUS" "" "0000476901" "0" "90" "8" "55540111" "55540111" "subst" "0" "02591" "RP1_000191" "g.55540111C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54627551C>A" "" "pathogenic" "" "0000476902" "0" "90" "8" "55540637" "55540637" "del" "0" "02591" "RP1_000192" "g.55540637del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs762951570" "0" "" "" "g.54628077del" "" "pathogenic" "" "0000476903" "0" "50" "8" "55540691" "55540691" "subst" "1.22061E-5" "02591" "RP1_000193" "g.55540691C>G" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs766709333" "0" "" "" "g.54628131C>G" "" "VUS" "" "0000476904" "0" "50" "8" "55540986" "55540986" "subst" "3.67092E-5" "02591" "RP1_000194" "g.55540986T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs373703033" "0" "" "" "g.54628426T>C" "" "VUS" "" "0000476905" "0" "50" "8" "55541315" "55541315" "subst" "0" "02591" "RP1_000195" "g.55541315A>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54628755A>T" "" "VUS" "" "0000476906" "0" "50" "8" "55541318" "55541318" "subst" "4.06547E-6" "02591" "RP1_000196" "g.55541318G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236106" "0" "" "" "g.54628758G>A" "" "VUS" "" "0000476907" "0" "10" "8" "55541450" "55541450" "subst" "0.258505" "02591" "RP1_000088" "g.55541450G>A" "577/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs446227" "0" "" "" "g.54628890G>A" "" "benign" "" "0000476908" "0" "10" "8" "55541513" "55541513" "subst" "0.276351" "02591" "RP1_000089" "g.55541513T>C" "577/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs414352" "0" "" "" "g.54628953T>C" "" "benign" "" "0000476909" "0" "50" "8" "55541994" "55541994" "subst" "4.06583E-6" "02591" "RP1_000197" "g.55541994A>C" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54629434A>C" "" "VUS" "" "0000476910" "0" "50" "8" "55542195" "55542195" "subst" "0" "02591" "RP1_000198" "g.55542195G>A" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54629635G>A" "" "VUS" "" "0000476911" "0" "50" "8" "55542239" "55542239" "subst" "0.000187423" "02591" "RP1_000018" "g.55542239C>T" "28/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs118031911" "0" "" "" "g.54629679C>T" "" "VUS" "" "0000476912" "0" "90" "8" "55542244" "55542244" "dup" "0" "02591" "RP1_000199" "g.55542244dup" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs868005849" "0" "" "" "g.54629684dup" "" "pathogenic" "" "0000476913" "0" "50" "8" "55542355" "55542355" "subst" "4.09527E-6" "02591" "RP1_000200" "g.55542355C>A" "15/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54629795C>A" "" "VUS" "" "0000476914" "0" "50" "8" "55542540" "55542540" "subst" "0.337314" "02591" "RP1_000104" "g.55542540G>A" "211/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61739567" "0" "" "" "g.54629980G>A" "" "VUS" "" "0000476915" "0" "90" "8" "55542620" "55542620" "del" "0" "02591" "RP1_000201" "g.55542620del" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs775367880" "0" "" "" "g.54630060del" "" "pathogenic" "" "0000476916" "0" "50" "8" "55542639" "55542639" "subst" "0" "02591" "RP1_000202" "g.55542639A>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54630079A>G" "" "VUS" "" "0000476917" "0" "90" "8" "55542795" "55542795" "subst" "2.45357E-5" "02591" "RP1_000203" "g.55542795G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs753732597" "0" "" "" "g.54630235G>A" "" "pathogenic" "" "0000476918" "0" "50" "8" "55542863" "55542863" "subst" "0" "02591" "RP1_000204" "g.55542863A>C" "2/1196 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.54630303A>C" "" "VUS" "" "0000477562" "3" "90" "8" "55537940" "55537941" "del" "1.62573E-5" "02591" "RP1_000169" "g.55537940_55537941del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs765129639" "0" "" "" "g.54625380_54625381del" "" "pathogenic" "" "0000477563" "3" "10" "8" "55539057" "55539057" "subst" "0.274715" "02591" "RP1_000034" "g.55539057G>A" "200/1196 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs444772" "0" "" "" "g.54626497G>A" "" "benign" "" "0000477564" "3" "50" "8" "55539336" "55539336" "subst" "0.000353981" "02591" "RP1_000185" "g.55539336G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201110322" "0" "" "" "g.54626776G>T" "" "VUS" "" "0000477565" "3" "10" "8" "55539395" "55539395" "subst" "0.345024" "02591" "RP1_000011" "g.55539395A>T" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2293869" "0" "" "" "g.54626835A>T" "" "benign" "" "0000477566" "3" "90" "8" "55540637" "55540637" "del" "0" "02591" "RP1_000192" "g.55540637del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs762951570" "0" "" "" "g.54628077del" "" "pathogenic" "" "0000477567" "3" "10" "8" "55541450" "55541450" "subst" "0.258505" "02591" "RP1_000088" "g.55541450G>A" "204/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs446227" "0" "" "" "g.54628890G>A" "" "benign" "" "0000477568" "3" "10" "8" "55541513" "55541513" "subst" "0.276351" "02591" "RP1_000089" "g.55541513T>C" "204/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs414352" "0" "" "" "g.54628953T>C" "" "benign" "" "0000477569" "3" "50" "8" "55542239" "55542239" "subst" "0.000187423" "02591" "RP1_000018" "g.55542239C>T" "4/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs118031911" "0" "" "" "g.54629679C>T" "" "VUS" "" "0000477570" "3" "50" "8" "55542540" "55542540" "subst" "0.337314" "02591" "RP1_000104" "g.55542540G>A" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61739567" "0" "" "" "g.54629980G>A" "" "VUS" "" "0000477571" "3" "90" "8" "55542795" "55542795" "subst" "2.45357E-5" "02591" "RP1_000203" "g.55542795G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs753732597" "0" "" "" "g.54630235G>A" "" "pathogenic" "" "0000487571" "3" "90" "8" "55539592" "55539592" "del" "0" "03335" "RP1_000205" "g.55539592del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.54627032del" "" "pathogenic (recessive)" "" "0000534960" "0" "90" "8" "55533597" "55533597" "dup" "0" "02330" "RP1_000130" "g.55533597dup" "" "" "" "RP1(NM_006269.2):c.71dupC (p.R25Sfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54621037dup" "" "pathogenic" "" "0000534961" "0" "10" "8" "55533805" "55533805" "subst" "0.00223439" "02330" "RP1_000206" "g.55533805G>T" "" "" "" "RP1(NM_006269.1):c.279G>T (p.T93=), RP1(NM_006269.2):c.279G>T (p.T93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54621245G>T" "" "benign" "" "0000534962" "0" "30" "8" "55533805" "55533805" "subst" "0.00223439" "01943" "RP1_000206" "g.55533805G>T" "" "" "" "RP1(NM_006269.1):c.279G>T (p.T93=), RP1(NM_006269.2):c.279G>T (p.T93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54621245G>T" "" "likely benign" "" "0000534963" "0" "90" "8" "55533894" "55533895" "dup" "0" "02330" "RP1_000090" "g.55533894_55533895dup" "" "" "" "RP1(NM_006269.1):c.368_369dupGC (p.(Pro124fs)), RP1(NM_006269.1):c.368_369dupGC (p.P124Afs*20), RP1(NM_006269.2):c.368_369dupGC (p.P124Afs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54621334_54621335dup" "" "pathogenic" "" "0000534964" "0" "90" "8" "55533894" "55533895" "dup" "0" "01943" "RP1_000090" "g.55533894_55533895dup" "" "" "" "RP1(NM_006269.1):c.368_369dupGC (p.(Pro124fs)), RP1(NM_006269.1):c.368_369dupGC (p.P124Afs*20), RP1(NM_006269.2):c.368_369dupGC (p.P124Afs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54621334_54621335dup" "" "pathogenic" "" "0000534965" "0" "30" "8" "55533950" "55533950" "subst" "0.000244434" "02330" "RP1_000207" "g.55533950G>T" "" "" "" "RP1(NM_006269.2):c.424G>T (p.V142L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54621390G>T" "" "likely benign" "" "0000534966" "0" "30" "8" "55534671" "55534671" "subst" "0.00511348" "02330" "RP1_000082" "g.55534671T>C" "" "" "" "RP1(NM_006269.1):c.616-6T>C, RP1(NM_006269.2):c.616-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54622111T>C" "" "likely benign" "" "0000534967" "0" "90" "8" "55534787" "55534787" "del" "0" "02327" "RP1_000208" "g.55534787del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54622227del" "" "pathogenic" "" "0000534968" "0" "90" "8" "55537229" "55537229" "subst" "0" "02327" "RP1_000209" "g.55537229G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54624669G>A" "" "pathogenic" "" "0000534969" "0" "50" "8" "55537262" "55537262" "subst" "1.21913E-5" "02330" "RP1_000210" "g.55537262C>A" "" "" "" "RP1(NM_006269.2):c.820C>A (p.Q274K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54624702C>A" "" "VUS" "" "0000534970" "0" "90" "8" "55537454" "55537454" "subst" "0" "02327" "RP1_000097" "g.55537454C>T" "" "" "" "RP1(NM_006269.1):c.1012C>T (p.(Arg338*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54624894C>T" "" "pathogenic" "" "0000534971" "0" "10" "8" "55537560" "55537560" "subst" "0.0126036" "02330" "RP1_000004" "g.55537560C>T" "" "" "" "RP1(NM_006269.1):c.1118C>T (p.T373I), RP1(NM_006269.2):c.1118C>T (p.T373I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54625000C>T" "" "benign" "" "0000534972" "0" "50" "8" "55537560" "55537560" "subst" "0.0126036" "01943" "RP1_000004" "g.55537560C>T" "" "" "" "RP1(NM_006269.1):c.1118C>T (p.T373I), RP1(NM_006269.2):c.1118C>T (p.T373I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54625000C>T" "" "VUS" "" "0000534973" "0" "10" "8" "55537560" "55537560" "subst" "0.0126036" "02327" "RP1_000004" "g.55537560C>T" "" "" "" "RP1(NM_006269.1):c.1118C>T (p.T373I), RP1(NM_006269.2):c.1118C>T (p.T373I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54625000C>T" "" "benign" "" "0000534974" "0" "50" "8" "55538422" "55538422" "subst" "3.27059E-5" "02330" "RP1_000211" "g.55538422T>A" "" "" "" "RP1(NM_006269.1):c.1980T>A (p.N660K, p.(Asn660Lys)), RP1(NM_006269.2):c.1980T>A (p.N660K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54625862T>A" "" "VUS" "" "0000534975" "0" "50" "8" "55538422" "55538422" "subst" "3.27059E-5" "01943" "RP1_000211" "g.55538422T>A" "" "" "" "RP1(NM_006269.1):c.1980T>A (p.N660K, p.(Asn660Lys)), RP1(NM_006269.2):c.1980T>A (p.N660K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54625862T>A" "" "VUS" "" "0000534976" "0" "50" "8" "55538453" "55538453" "subst" "2.85407E-5" "02327" "RP1_000212" "g.55538453A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54625893A>C" "" "VUS" "" "0000534977" "0" "90" "8" "55538471" "55538471" "subst" "0" "02327" "RP1_000068" "g.55538471C>T" "" "" "" "RP1(NM_006269.2):c.2029C>T (p.R677*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54625911C>T" "" "pathogenic" "" "0000534978" "0" "90" "8" "55538507" "55538507" "subst" "0" "01943" "RP1_000029" "g.55538507C>T" "" "" "" "RP1(NM_006269.1):c.2065C>T (p.Q689*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54625947C>T" "" "pathogenic" "" "0000534979" "0" "50" "8" "55538592" "55538592" "subst" "8.13035E-6" "01943" "RP1_000136" "g.55538592C>T" "" "" "" "RP1(NM_006269.1):c.2150C>T (p.S717L, p.(Ser717Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626032C>T" "" "VUS" "" "0000534980" "0" "30" "8" "55538687" "55538687" "subst" "0.000322481" "01943" "RP1_000213" "g.55538687C>T" "" "" "" "RP1(NM_006269.1):c.2245C>T (p.L749F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626127C>T" "" "likely benign" "" "0000534981" "0" "90" "8" "55538727" "55538731" "del" "0" "01943" "RP1_000053" "g.55538727_55538731del" "" "" "" "RP1(NM_006269.1):c.2285_2289delTAAAT (p.L762Yfs*17), RP1(NM_006269.2):c.2285_2289delTAAAT (p.L762Yfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000534982" "0" "90" "8" "55539174" "55539174" "subst" "0" "02330" "RP1_000139" "g.55539174C>G" "" "" "" "RP1(NM_006269.2):c.2732C>G (p.S911*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626614C>G" "" "pathogenic" "" "0000534983" "0" "30" "8" "55539234" "55539234" "subst" "0" "02330" "RP1_000214" "g.55539234C>G" "" "" "" "RP1(NM_006269.2):c.2792C>G (p.P931R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626674C>G" "" "likely benign" "" "0000534984" "0" "30" "8" "55539267" "55539267" "subst" "2.03573E-5" "02330" "RP1_000215" "g.55539267C>T" "" "" "" "RP1(NM_006269.2):c.2825C>T (p.T942M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626707C>T" "" "likely benign" "" "0000534985" "0" "30" "8" "55539775" "55539775" "subst" "0" "01943" "RP1_000216" "g.55539775A>G" "" "" "" "RP1(NM_006269.1):c.3333A>G (p.S1111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54627215A>G" "" "likely benign" "" "0000534986" "0" "30" "8" "55540108" "55540108" "subst" "0" "01943" "RP1_000217" "g.55540108G>A" "" "" "" "RP1(NM_006269.1):c.3666G>A (p.K1222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54627548G>A" "" "likely benign" "" "0000534987" "0" "30" "8" "55540268" "55540268" "subst" "0.00174263" "02330" "RP1_000218" "g.55540268C>T" "" "" "" "RP1(NM_006269.1):c.3826C>T (p.P1276S), RP1(NM_006269.2):c.3826C>T (p.P1276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54627708C>T" "" "likely benign" "" "0000534988" "0" "30" "8" "55540418" "55540418" "subst" "0.000162479" "01943" "RP1_000219" "g.55540418G>C" "" "" "" "RP1(NM_006269.1):c.3976G>C (p.A1326P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54627858G>C" "" "likely benign" "" "0000534989" "0" "30" "8" "55540635" "55540635" "subst" "4.47478E-5" "02330" "RP1_000028" "g.55540635C>G" "" "" "" "RP1(NM_006269.2):c.4193C>G (p.S1398C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628075C>G" "" "likely benign" "" "0000534990" "0" "50" "8" "55541105" "55541105" "subst" "1.22036E-5" "02330" "RP1_000220" "g.55541105G>A" "" "" "" "RP1(NM_006269.2):c.4663G>A (p.G1555R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628545G>A" "" "VUS" "" "0000534991" "0" "50" "8" "55541222" "55541222" "subst" "4.06511E-6" "02330" "RP1_000221" "g.55541222T>C" "" "" "" "RP1(NM_006269.1):c.4780T>C (p.Y1594H), RP1(NM_006269.2):c.4780T>C (p.Y1594H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628662T>C" "" "VUS" "" "0000534992" "0" "50" "8" "55541412" "55541412" "subst" "3.25095E-5" "02327" "RP1_000222" "g.55541412G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628852G>T" "" "VUS" "" "0000534993" "0" "10" "8" "55541450" "55541450" "subst" "0.258505" "02327" "RP1_000088" "g.55541450G>A" "" "" "" "RP1(NM_006269.2):c.5008G>A (p.A1670T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628890G>A" "" "benign" "" "0000534994" "0" "30" "8" "55541508" "55541508" "subst" "0.00119851" "01943" "RP1_000149" "g.55541508G>A" "" "" "" "RP1(NM_006269.1):c.5066G>A (p.S1689N), RP1(NM_006269.2):c.5066G>A (p.S1689N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628948G>A" "" "likely benign" "" "0000534995" "0" "10" "8" "55541617" "55541617" "subst" "0.256953" "02327" "RP1_000129" "g.55541617A>G" "" "" "" "RP1(NM_006269.2):c.5175A>G (p.Q1725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629057A>G" "" "benign" "" "0000534996" "0" "10" "8" "55541819" "55541819" "subst" "0.001994" "02330" "RP1_000019" "g.55541819C>T" "" "" "" "RP1(NM_006269.1):c.5377C>T (p.P1793S), RP1(NM_006269.2):c.5377C>T (p.P1793S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629259C>T" "" "benign" "" "0000534997" "0" "30" "8" "55541819" "55541819" "subst" "0.001994" "01943" "RP1_000019" "g.55541819C>T" "" "" "" "RP1(NM_006269.1):c.5377C>T (p.P1793S), RP1(NM_006269.2):c.5377C>T (p.P1793S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629259C>T" "" "likely benign" "" "0000534998" "0" "30" "8" "55542066" "55542066" "subst" "0.00101606" "02330" "RP1_000151" "g.55542066G>C" "" "" "" "RP1(NM_006269.1):c.5624G>C (p.G1875A), RP1(NM_006269.2):c.5624G>C (p.G1875A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629506G>C" "" "likely benign" "" "0000534999" "0" "30" "8" "55542143" "55542143" "subst" "0.00147729" "01943" "RP1_000223" "g.55542143C>T" "" "" "" "RP1(NM_006269.1):c.5701C>T (p.L1901F), RP1(NM_006269.2):c.5701C>T (p.L1901F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629583C>T" "" "likely benign" "" "0000535000" "0" "50" "8" "55542179" "55542179" "subst" "2.8516E-5" "02330" "RP1_000224" "g.55542179C>T" "" "" "" "RP1(NM_006269.1):c.5737C>T (p.L1913F), RP1(NM_006269.2):c.5737C>T (p.L1913F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629619C>T" "" "VUS" "" "0000535001" "0" "50" "8" "55542179" "55542179" "subst" "2.8516E-5" "01943" "RP1_000224" "g.55542179C>T" "" "" "" "RP1(NM_006269.1):c.5737C>T (p.L1913F), RP1(NM_006269.2):c.5737C>T (p.L1913F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629619C>T" "" "VUS" "" "0000535002" "0" "70" "8" "55542188" "55542188" "subst" "0" "02330" "RP1_000225" "g.55542188C>T" "" "" "" "RP1(NM_006269.1):c.5746C>T (p.Q1916*), RP1(NM_006269.2):c.5746C>T (p.Q1916*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629628C>T" "" "likely pathogenic" "" "0000535003" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "02330" "RP1_000018" "g.55542239C>T" "" "" "" "RP1(NM_006269.2):c.5797C>T (p.R1933*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629679C>T" "" "likely pathogenic" "" "0000535004" "0" "30" "8" "55542497" "55542497" "subst" "0.000256517" "01943" "RP1_000226" "g.55542497G>A" "" "" "" "RP1(NM_006269.1):c.6055G>A (p.G2019S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629937G>A" "" "likely benign" "" "0000611639" "0" "50" "8" "55537274" "55537274" "subst" "0" "02330" "RP1_000230" "g.55537274G>T" "" "" "" "RP1(NM_006269.2):c.832G>T (p.V278F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54624714G>T" "" "VUS" "" "0000611640" "0" "50" "8" "55538613" "55538613" "subst" "0" "01943" "RP1_000231" "g.55538613G>A" "" "" "" "RP1(NM_006269.1):c.2171G>A (p.G724E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626053G>A" "" "VUS" "" "0000611641" "0" "50" "8" "55539018" "55539018" "subst" "0" "02330" "RP1_000232" "g.55539018T>G" "" "" "" "RP1(NM_006269.2):c.2576T>G (p.V859G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626458T>G" "" "VUS" "" "0000611642" "0" "30" "8" "55539478" "55539478" "subst" "3.66139E-5" "01943" "RP1_000233" "g.55539478G>C" "" "" "" "RP1(NM_006269.1):c.3036G>C (p.L1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626918G>C" "" "likely benign" "" "0000611643" "0" "50" "8" "55539482" "55539482" "subst" "3.66062E-5" "01943" "RP1_000234" "g.55539482G>C" "" "" "" "RP1(NM_006269.1):c.3040G>C (p.D1014H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626922G>C" "" "VUS" "" "0000611644" "0" "30" "8" "55539490" "55539490" "subst" "2.4395E-5" "01943" "RP1_000235" "g.55539490T>C" "" "" "" "RP1(NM_006269.1):c.3048T>C (p.Y1016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54626930T>C" "" "likely benign" "" "0000611645" "0" "30" "8" "55539739" "55539739" "subst" "0" "02330" "RP1_000236" "g.55539739C>T" "" "" "" "RP1(NM_006269.2):c.3297C>T (p.H1099=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54627179C>T" "" "likely benign" "" "0000611646" "0" "30" "8" "55540951" "55540951" "subst" "0.000310351" "02330" "RP1_000237" "g.55540951T>C" "" "" "" "RP1(NM_006269.2):c.4509T>C (p.T1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628391T>C" "" "likely benign" "" "0000611647" "0" "30" "8" "55540954" "55540954" "subst" "0.000310364" "02330" "RP1_000238" "g.55540954A>G" "" "" "" "RP1(NM_006269.2):c.4512A>G (p.L1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628394A>G" "" "likely benign" "" "0000611648" "0" "30" "8" "55541277" "55541277" "subst" "4.06726E-6" "01943" "RP1_000239" "g.55541277A>G" "" "" "" "RP1(NM_006269.1):c.4835A>G (p.N1612S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54628717A>G" "" "likely benign" "" "0000611649" "0" "30" "8" "55541620" "55541620" "subst" "2.43811E-5" "02330" "RP1_000240" "g.55541620T>C" "" "" "" "RP1(NM_006269.2):c.5178T>C (p.N1726=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629060T>C" "" "likely benign" "" "0000611650" "0" "30" "8" "55541699" "55541699" "subst" "0.000109709" "01943" "RP1_000241" "g.55541699T>C" "" "" "" "RP1(NM_006269.1):c.5257T>C (p.L1753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629139T>C" "" "likely benign" "" "0000611651" "0" "50" "8" "55541967" "55541967" "subst" "0" "02327" "RP1_000242" "g.55541967G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629407G>C" "" "VUS" "" "0000622075" "0" "50" "8" "55542740" "55542740" "subst" "0" "02330" "RP1_000243" "g.55542740C>T" "" "" "" "RP1(NM_006269.2):c.6298C>T (p.L2100F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54630180C>T" "" "VUS" "" "0000624950" "0" "70" "8" "55539420" "55539420" "del" "0" "01848" "RP1_000244" "g.55539420del" "" "{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}" "" "2978delC" "" "Germline" "" "" "0" "" "" "g.54626860del" "" "likely pathogenic (dominant)" "ACMG" "0000624951" "0" "70" "8" "55538661" "55538661" "subst" "0" "01848" "RP1_000174" "g.55538661C>G" "" "{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}" "" "" "" "Germline" "" "" "0" "" "" "g.54626101C>G" "" "likely pathogenic (dominant)" "ACMG" "0000652503" "1" "70" "8" "55534133" "55534133" "subst" "0" "03575" "RP1_000245" "g.55534133G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205589}" "Germline" "" "rs786205589" "0" "" "" "g.54621573G>A" "" "likely pathogenic" "" "0000652504" "1" "30" "8" "55537560" "55537560" "subst" "0.0126036" "03575" "RP1_000004" "g.55537560C>T" "103/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "103 heterozygous; {DB:CLININrs77775126}" "Germline" "" "rs77775126" "0" "" "" "g.54625000C>T" "" "likely benign" "" "0000652505" "1" "30" "8" "55542143" "55542143" "subst" "0.00147729" "03575" "RP1_000223" "g.55542143C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs113793810}" "Germline" "" "rs113793810" "0" "" "" "g.54629583C>T" "" "likely benign" "" "0000652506" "1" "50" "8" "55542638" "55542638" "subst" "0.000500338" "03575" "RP1_000023" "g.55542638G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs149282954}" "Germline" "" "rs149282954" "0" "" "" "g.54630078G>A" "" "VUS" "" "0000656113" "0" "30" "8" "55537399" "55537399" "subst" "0" "01943" "RP1_000246" "g.55537399T>C" "" "" "" "RP1(NM_006269.1):c.957T>C (p.I319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54624839T>C" "" "likely benign" "" "0000656114" "0" "30" "8" "55540288" "55540288" "subst" "4.06141E-6" "01943" "RP1_000247" "g.55540288T>A" "" "" "" "RP1(NM_006269.1):c.3846T>A (p.P1282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54627728T>A" "" "likely benign" "" "0000656115" "0" "30" "8" "55540316" "55540316" "subst" "4.4674E-5" "01943" "RP1_000248" "g.55540316T>C" "" "" "" "RP1(NM_006269.1):c.3874T>C (p.S1292P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54627756T>C" "" "likely benign" "" "0000656116" "0" "50" "8" "55542115" "55542115" "subst" "0.000204225" "01943" "RP1_000153" "g.55542115G>T" "" "" "" "RP1(NM_006269.1):c.5673G>T (p.L1891F), RP1(NM_006269.2):c.5673G>T (p.L1891F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54629555G>T" "" "VUS" "" "0000663575" "1" "50" "8" "55537560" "55537560" "subst" "0.0126036" "00006" "RP1_000004" "g.55537560C>T" "" "{PMID:Arno 2017:28132693}" "" "" "ExAC MAF too high for dominant disease allele" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "VUS" "" "0000666151" "0" "90" "8" "55538417" "55538417" "subst" "0" "01807" "RP1_000249" "g.55538417A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.54625857A>T" "" "pathogenic" "" "0000670016" "3" "30" "8" "55537560" "55537560" "subst" "0.0126036" "03575" "RP1_000004" "g.55537560C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs77775126}" "Germline" "" "rs77775126" "0" "" "" "g.54625000C>T" "" "likely benign" "" "0000678403" "0" "50" "8" "55540737" "55540737" "subst" "8.1322E-6" "02330" "RP1_000250" "g.55540737A>G" "" "" "" "RP1(NM_006269.2):c.4295A>G (p.N1432S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683400" "3" "90" "8" "55537568" "55537568" "subst" "1.62536E-5" "00006" "RP1_000102" "g.55537568C>T" "" "{PMID:Al-Bdour 2020:32587456}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "yes" "" "0" "" "" "g.54625008C>T" "" "pathogenic (recessive)" "ACMG" "0000683401" "3" "70" "8" "55534133" "55534133" "subst" "0" "00006" "RP1_000245" "g.55534133G>A" "" "{PMID:Al-Bdour 2020:32587456}" "" "" "ACMG PM2, PM3, PP1, PP3" "Germline" "yes" "rs786205589" "0" "" "" "g.54621573G>A" "" "likely pathogenic (recessive)" "ACMG" "0000683402" "3" "70" "8" "55534133" "55534133" "subst" "0" "00006" "RP1_000245" "g.55534133G>A" "" "{PMID:Al-Bdour 2020:32587456}" "" "" "ACMG PM2, PM3, PP1, PP3" "Germline" "yes" "rs786205589" "0" "" "" "g.54621573G>A" "" "likely pathogenic (recessive)" "ACMG" "0000684422" "3" "70" "8" "55538161" "55538165" "del" "0" "00004" "RP1_000253" "g.55538161_55538165del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.54625601_54625605del" "" "likely pathogenic (recessive)" "" "0000684569" "1" "70" "8" "55533686" "55533686" "del" "0" "00004" "RP1_000251" "g.55533686del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.160delG" "" "Germline" "" "" "0" "" "" "g.54621126del" "" "likely pathogenic" "" "0000684570" "1" "70" "8" "55537560" "55537560" "subst" "0.0126036" "00004" "RP1_000004" "g.55537560C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "likely pathogenic" "" "0000684660" "1" "90" "8" "55537897" "55537897" "subst" "0" "00004" "RP1_000252" "g.55537897T>G" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684696" "0" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00004" "RP1_000256" "g.55540638del" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "c.4196delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684845" "3" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00006" "RP1_000018" "g.55542239C>T" "3/12,379 homozygous controls" "{PMID:Nikopoulos 2019:31253780}" "" "" "not pathogenic in homozygous state" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (!)" "" "0000684846" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00006" "RP1_000018" "g.55542239C>T" "142/12,379 heterozygous controls" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (!)" "" "0000684847" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684848" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684849" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684850" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684851" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684852" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684853" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684854" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684855" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684856" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684857" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684858" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684859" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684860" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684861" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684862" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684863" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684864" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684865" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684866" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684867" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684868" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684869" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684870" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684871" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684872" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684873" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684874" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "suggested association with variants in other RP genes (incl. EYS)" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic (recessive)" "" "0000684875" "3" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684876" "3" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684877" "3" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684878" "3" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684879" "3" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684880" "3" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684881" "1" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684882" "1" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684883" "1" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684884" "1" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684885" "1" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684886" "1" "90" "8" "55540494" "55540495" "ins" "0" "00004" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000684887" "2" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00004" "RP1_000256" "g.55540638del" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54628078del" "" "pathogenic (recessive)" "" "0000684888" "2" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00004" "RP1_000256" "g.55540638del" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54628078del" "" "pathogenic (recessive)" "" "0000684889" "2" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "rs118031911" "0" "" "" "g.54629679C>T" "" "pathogenic (!)" "" "0000684890" "2" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "rs118031911" "0" "" "" "g.54629679C>T" "" "pathogenic (!)" "" "0000684891" "2" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "rs118031911" "0" "" "" "g.54629679C>T" "" "pathogenic (!)" "" "0000684892" "2" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00004" "RP1_000018" "g.55542239C>T" "" "{PMID:Nikopoulos 2019:31253780}" "" "" "" "Germline" "yes" "rs118031911" "0" "" "" "g.54629679C>T" "" "pathogenic (!)" "" "0000685428" "0" "90" "8" "55534749" "55534749" "subst" "0" "00004" "RP1_000144" "g.55534749G>T" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685429" "0" "90" "8" "55538609" "55538609" "subst" "0" "00004" "RP1_000044" "g.55538609G>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685430" "0" "90" "8" "55538622" "55538623" "delins" "0" "00004" "RP1_000254" "g.55538622_55538623delinsAA" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685755" "1" "90" "8" "55538727" "55538731" "del" "0" "00006" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Chen 2018:29843741}" "" "2285_2289delTAAAT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000686108" "3" "90" "8" "55539860" "55539861" "del" "0" "00006" "RP1_000258" "g.55539860_55539861del" "" "{PMID:Bocquet 2013:24339724}" "" "3418delGG" "" "Germline" "" "" "0" "" "" "g.54627300_54627301del" "" "pathogenic (recessive)" "" "0000686111" "3" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "00006" "RP1_000257" "g.55537628C>T" "" "{PMID:Bocquet 2013:24339724}" "" "" "" "Germline" "" "" "0" "" "" "g.54625068C>T" "" "pathogenic (recessive)" "" "0000690285" "0" "30" "8" "55541738" "55541738" "subst" "0.000365625" "01943" "RP1_000259" "g.55541738A>C" "" "" "" "RP1(NM_006269.1):c.5296A>C (p.N1766H), RP1(NM_006269.2):c.5296A>C (p.N1766H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710281" "3" "90" "8" "55539592" "55539592" "del" "0" "00006" "RP1_000205" "g.55539592del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "3150delA" "ACMG PVS1, PM2, PP4" "Germline" "" "" "0" "" "" "g.54627032del" "" "pathogenic" "ACMG" "0000710291" "1" "90" "8" "55538471" "55538471" "subst" "0" "00006" "RP1_000068" "g.55538471C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000711684" "1" "70" "8" "55538471" "55538471" "subst" "0" "00008" "RP1_000068" "g.55538471C>T" "" "{PMID:Ziviello 2005:15994872}" "" "R677X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000711694" "1" "10" "8" "55541890" "55541890" "subst" "0" "00008" "RP1_000035" "g.55541890C>A" "" "{PMID:Ziviello 2005:15994872}" "" "C1816X" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000711695" "1" "10" "8" "55537822" "55537822" "subst" "5.28649E-5" "00008" "RP1_000113" "g.55537822G>C" "" "{PMID:Ziviello 2005:15994872}" "" "K460N" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000711696" "1" "10" "8" "55541177" "55541177" "subst" "6.09617E-5" "00008" "RP1_000092" "g.55541177T>G" "" "{PMID:Ziviello 2005:15994872}" "" "L1579V" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000711697" "1" "10" "8" "55538147" "55538147" "subst" "4.06481E-6" "00008" "RP1_000260" "g.55538147A>G" "" "{PMID:Ziviello 2005:15994872}" "" "T569A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000711814" "1" "30" "8" "55539057" "55539057" "subst" "0.274715" "00008" "RP1_000034" "g.55539057G>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711815" "1" "30" "8" "55539395" "55539395" "subst" "0.345024" "00008" "RP1_000011" "g.55539395A>T" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711816" "1" "30" "8" "55541226" "55541226" "subst" "0.0162193" "00008" "RP1_000017" "g.55541226G>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711817" "1" "30" "8" "55541450" "55541450" "subst" "0.258505" "00008" "RP1_000088" "g.55541450G>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711818" "1" "30" "8" "55541513" "55541513" "subst" "0.276351" "00008" "RP1_000089" "g.55541513T>C" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711819" "1" "30" "8" "55541617" "55541617" "subst" "0.256953" "00008" "RP1_000129" "g.55541617A>G" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711820" "1" "30" "8" "0" "0" "" "0" "00008" "RP1_000000" "g.?" "" "{PMID:Sohocki 2001:11139241}" "" "AF143222:6098A>G (TAT?TGT) Cys2033Tyr" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711821" "1" "30" "8" "55541865" "55541865" "subst" "4.0792E-6" "00008" "RP1_000078" "g.55541865T>C" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711822" "1" "30" "8" "55542808" "55542808" "subst" "0.00027391" "00008" "RP1_000052" "g.55542808T>C" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000713266" "0" "90" "8" "55538648" "55538649" "ins" "0" "00000" "RP1_000263" "g.55538648_55538649insA" "" "{PMID:Carss 2017:28041643}" "" "8:55538647T>TA ENST00000220676.1:c.2206dupA (Thr736AsnfsTer4)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713272" "3" "90" "8" "55542325" "55542325" "del" "0" "00000" "RP1_000270" "g.55542325del" "" "{PMID:Carss 2017:28041643}" "" "8:55542324AG>A ENST00000220676.1:c.5883delG (Thr1962GlnfsTer15)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713419" "0" "90" "8" "55534671" "55534671" "subst" "0.00511348" "00000" "RP1_000082" "g.55534671T>C" "" "{PMID:Carss 2017:28041643}" "" "8:55534671T>C ENST00000220676.1:c.616-6T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713474" "0" "90" "8" "55538498" "55538498" "subst" "0" "00000" "RP1_000027" "g.55538498C>T" "" "{PMID:Carss 2017:28041643}" "" "8:55538498C>T ENST00000220676.1:c.2056C>T (Gln686Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713494" "0" "90" "8" "55539050" "55539051" "ins" "0" "00000" "RP1_000267" "g.55539050_55539051insA" "" "{PMID:Carss 2017:28041643}" "" "8:55539049G>GA ENST00000220676.1:c.2613dupA (Arg872ThrfsTer2)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713495" "0" "90" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Carss 2017:28041643}" "" "8:55534041T>G ENST00000220676.1:c.515T>G (Leu172Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713510" "3" "90" "8" "55540279" "55540279" "del" "0" "00000" "RP1_000269" "g.55540279del" "" "{PMID:Carss 2017:28041643}" "" "8:55540278CT>C ENST00000220676.1:c.3843delT (Pro1282LeufsTer12)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713540" "0" "90" "8" "55538610" "55538623" "del" "0" "00000" "RP1_000262" "g.55538610_55538623del" "" "{PMID:Carss 2017:28041643}" "" "8:55538609GGAGGGATACTTTGT>G ENST00000220676.1:c.2172_2185delGATACTTTGTGAGG (Ile725ArgfsTer6)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713548" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Carss 2017:28041643}" "" "8:55538661C>G ENST00000220676.1:c.2219C>G (Ser740Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713554" "0" "90" "8" "55539037" "55539038" "del" "0" "00000" "RP1_000266" "g.55539037_55539038del" "" "{PMID:Carss 2017:28041643}" "" "8:55539036CTT>C ENST00000220676.1:c.2596_2597delTT (Leu866LysfsTer7)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713596" "0" "90" "8" "55538722" "55538726" "del" "0" "00000" "RP1_000264" "g.55538722_55538726del" "" "{PMID:Carss 2017:28041643}" "" "8:55538721ATAAAT>A ENST00000220676.1:c.2285_2289delTAAAT (Leu762TyrfsTer17)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713600" "0" "90" "8" "55538474" "55538474" "subst" "4.07037E-6" "00000" "RP1_000173" "g.55538474C>T" "" "{PMID:Carss 2017:28041643}" "" "8:55538474C>T ENST00000220676.1:c.2032C>T (Gln678Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713603" "0" "90" "8" "55539098" "55539098" "subst" "0" "00000" "RP1_000268" "g.55539098C>T" "" "{PMID:Carss 2017:28041643}" "" "8:55539098C>T ENST00000220676.1:c.2656C>T (Gln886Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713640" "0" "90" "8" "55540279" "55540279" "del" "0" "00000" "RP1_000269" "g.55540279del" "" "{PMID:Carss 2017:28041643}" "" "8:55540278CT>C ENST00000220676.1:c.3843delT (Pro1282LeufsTer12)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713682" "0" "90" "8" "55538760" "55538760" "del" "0" "00000" "RP1_000265" "g.55538760del" "" "{PMID:Carss 2017:28041643}" "" "8:55538759CT>C ENST00000220676.1:c.2321delT (Leu774Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713765" "0" "90" "8" "55538524" "55538524" "del" "0" "00000" "RP1_000261" "g.55538524del" "" "{PMID:Carss 2017:28041643}" "" "8:55538523GA>G ENST00000220676.1:c.2083delA (Ile695PhefsTer8)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713808" "0" "90" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Carss 2017:28041643}" "" "8:55537939CAT>C ENST00000220676.1:c.1498_1499delAT (Met500ValfsTer7)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713884" "0" "90" "8" "55542325" "55542325" "del" "0" "00000" "RP1_000270" "g.55542325del" "" "{PMID:Carss 2017:28041643}" "" "8:55542324AG>A ENST00000220676.1:c.5883delG (Thr1962GlnfsTer15)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000722022" "0" "50" "8" "55537578" "55537578" "subst" "5.68787E-5" "02330" "RP1_000271" "g.55537578G>T" "" "" "" "RP1(NM_006269.2):c.1136G>T (p.G379V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722023" "0" "90" "8" "55539395" "55539398" "del" "0" "02327" "RP1_000272" "g.55539395_55539398del" "" "" "" "RP1(NM_006269.1):c.2953_2956delAATC (p.N985Yfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722024" "0" "30" "8" "55540268" "55540268" "subst" "0.00174263" "01943" "RP1_000218" "g.55540268C>T" "" "" "" "RP1(NM_006269.1):c.3826C>T (p.P1276S), RP1(NM_006269.2):c.3826C>T (p.P1276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722025" "0" "30" "8" "55540441" "55540441" "subst" "0.00108057" "01943" "RP1_000127" "g.55540441C>T" "" "" "" "RP1(NM_006269.1):c.3999C>T (p.Y1333=), RP1(NM_006269.2):c.3999C>T (p.Y1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729759" "3" "70" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "rs118031911" "0" "" "" "g.54629679C>T" "" "likely pathogenic" "" "0000731006" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000731065" "0" "50" "8" "55542115" "55542115" "subst" "0.000204225" "00000" "RP1_000153" "g.55542115G>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs139088785" "0" "" "" "g.54629555G>T" "" "VUS" "" "0000731073" "0" "50" "8" "55542282" "55542282" "subst" "0" "00000" "RP1_000275" "g.55542282T>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.54629722T>G" "" "VUS" "" "0000731093" "0" "50" "8" "55541317" "55541317" "subst" "0" "00000" "RP1_000274" "g.55541317A>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs757644601" "0" "" "" "g.54628757A>G" "" "VUS" "" "0000731478" "3" "90" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.54621481T>G" "" "pathogenic (recessive)" "" "0000731479" "3" "90" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.54621481T>G" "" "pathogenic (recessive)" "" "0000731480" "1" "90" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.54621481T>G" "" "pathogenic (recessive)" "" "0000731511" "2" "90" "8" "55533647" "55533647" "subst" "4.8727E-5" "00000" "RP1_000273" "g.55533647T>C" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.54621087T>C" "" "pathogenic (recessive)" "" "0000732632" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000732633" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000732752" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Stone 2017:28559085}" "" "2607_2608insA" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000732753" "0" "70" "8" "55538421" "55538421" "dup" "0" "00000" "RP1_000037" "g.55538421dup" "" "{PMID:Stone 2017:28559085}" "" "1973_1974insA" "" "Germline" "" "" "0" "" "" "g.54625861dup" "" "likely pathogenic" "" "0000732763" "0" "70" "8" "55538631" "55538633" "delins" "0" "00000" "RP1_000279" "g.55538631_55538633delinsTA" "" "{PMID:Stone 2017:28559085}" "" "2189_2191delACCinsTA" "" "Germline" "" "" "0" "" "" "g.54626071_54626073delinsTA" "" "likely pathogenic" "" "0000732810" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Stone 2017:28559085}" "" "2280_2284delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000732811" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Stone 2017:28559085}" "" "2280_2284delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000732842" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Stone 2017:28559085}" "" "2280_2284delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000732843" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Stone 2017:28559085}" "" "2280_2284delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000732844" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Stone 2017:28559085}" "" "2280_2284delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000732879" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Stone 2017:28559085}" "" "2280_2284delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000733090" "1" "70" "8" "55534729" "55534729" "del" "0" "00000" "RP1_000276" "g.55534729del" "" "{PMID:Stone 2017:28559085}" "" "667delG" "" "Germline" "" "" "0" "" "" "g.54622169del" "" "likely pathogenic" "" "0000733546" "2" "70" "8" "55542404" "55542404" "dup" "0" "00000" "RP1_000283" "g.55542404dup" "" "{PMID:Stone 2017:28559085}" "" "5961_5962insA" "" "Germline" "" "" "0" "" "" "g.54629844dup" "" "likely pathogenic" "" "0000734355" "0" "70" "8" "55542206" "55542206" "subst" "0" "00000" "RP1_000282" "g.55542206A>G" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.54629646A>G" "" "likely pathogenic" "" "0000734356" "3" "70" "8" "55537230" "55537232" "del" "0" "00000" "RP1_000277" "g.55537230_55537232del" "" "{PMID:Huang 2017:28512305}" "" "788_790delTAA" "" "Germline" "" "" "0" "" "" "g.54624670_54624672del" "" "likely pathogenic" "" "0000734357" "1" "70" "8" "55537924" "55537924" "subst" "0" "00000" "RP1_000278" "g.55537924C>G" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.54625364C>G" "" "likely pathogenic" "" "0000734358" "0" "70" "8" "55541753" "55541753" "subst" "0" "00000" "RP1_000281" "g.55541753T>C" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.54629193T>C" "" "likely pathogenic" "" "0000734396" "2" "70" "8" "55538636" "55538636" "subst" "0" "00000" "RP1_000280" "g.55538636C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.54626076C>T" "" "likely pathogenic" "" "0000735654" "0" "90" "8" "55537893" "55537893" "subst" "0" "00000" "RP1_000134" "g.55537893C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.54625333C>A" "" "pathogenic" "" "0000735655" "0" "90" "8" "55538777" "55538777" "del" "0" "00000" "RP1_000137" "g.55538777del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.54626217del" "" "pathogenic" "" "0000735656" "0" "90" "8" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.54621334_54621335dup" "" "pathogenic" "" "0000735657" "0" "90" "8" "55540285" "55540285" "del" "0" "00000" "RP1_000141" "g.55540285del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.54627725del" "" "pathogenic" "" "0000735762" "0" "90" "8" "55537893" "55537893" "subst" "0" "00000" "RP1_000134" "g.55537893C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.54625333C>A" "" "pathogenic" "" "0000735763" "0" "90" "8" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.54621334_54621335dup" "" "pathogenic" "" "0000735764" "0" "90" "8" "55540285" "55540285" "del" "0" "00000" "RP1_000141" "g.55540285del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.54627725del" "" "pathogenic" "" "0000735907" "1" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "02485" "RP1_000098" "g.55538067C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000735908" "1" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "02485" "RP1_000098" "g.55538067C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000735935" "0" "70" "8" "55541222" "55541222" "subst" "4.06511E-6" "02485" "RP1_000221" "g.55541222T>C" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.54628662T>C" "" "likely pathogenic" "" "0000735963" "2" "70" "8" "55542323" "55542323" "subst" "4.12786E-6" "02485" "RP1_000291" "g.55542323C>T" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54629763C>T" "" "likely pathogenic" "" "0000735964" "2" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "02485" "RP1_000098" "g.55538067C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000735995" "1" "70" "8" "55542640" "55542642" "del" "0" "02485" "RP1_000292" "g.55542640_55542642del" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.6196_6198del" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.54630080_54630082del" "" "likely pathogenic" "" "0000736061" "0" "90" "8" "55538498" "55538498" "subst" "0" "00000" "RP1_000027" "g.55538498C>T" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.54625938C>T" "" "pathogenic" "" "0000736092" "0" "70" "8" "55542795" "55542795" "subst" "2.45357E-5" "00000" "RP1_000203" "g.55542795G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.54630235G>A" "" "likely pathogenic" "" "0000736133" "0" "70" "8" "55540610" "55540611" "ins" "0" "00000" "RP1_000290" "g.55540610_55540611insT" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.54628050_54628051insT" "" "likely pathogenic" "" "0000736134" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Huang 2018:29641573}" "" "c.4196_4196delG" "" "Germline" "" "" "0" "" "" "g.54628078del" "" "likely pathogenic" "" "0000736319" "1" "90" "8" "55538468" "55538468" "del" "0" "00000" "RP1_000284" "g.55538468del" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.54625908del" "" "pathogenic (dominant)" "ACMG" "0000736320" "1" "90" "8" "55538468" "55538468" "del" "0" "00000" "RP1_000284" "g.55538468del" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.54625908del" "" "pathogenic (dominant)" "ACMG" "0000736321" "1" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic (dominant)" "ACMG" "0000736322" "1" "90" "8" "55538642" "55538642" "del" "0" "00000" "RP1_000285" "g.55538642del" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.54626082del" "" "pathogenic (dominant)" "ACMG" "0000736323" "1" "90" "8" "55538687" "55538690" "inv" "0" "00000" "RP1_000286" "g.55538687_55538690inv" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54626127_54626130inv" "" "pathogenic (dominant)" "ACMG" "0000736324" "1" "90" "8" "55538747" "55538759" "del" "0" "00000" "RP1_000287" "g.55538747_55538759del" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54626187_54626199del" "" "pathogenic (dominant)" "ACMG" "0000736325" "1" "90" "8" "55539039" "55539039" "del" "0" "00000" "RP1_000288" "g.55539039del" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.54626479del" "" "pathogenic (dominant)" "ACMG" "0000736326" "1" "90" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627039del" "" "pathogenic (dominant)" "ACMG" "0000736327" "1" "90" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627039del" "" "pathogenic (dominant)" "ACMG" "0000736478" "1" "90" "8" "55538727" "55538731" "del" "0" "00008" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Sullivan 2006:16799052}" "" "2285_2289del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736479" "1" "90" "8" "55538471" "55538471" "subst" "0" "00008" "RP1_000068" "g.55538471C>T" "" "{PMID:Sullivan 2006:16799052}" "" "2029C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736480" "1" "90" "8" "55538609" "55538609" "subst" "0" "00008" "RP1_000044" "g.55538609G>T" "" "{PMID:Sullivan 2006:16799052}" "" "2167G>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736481" "1" "10" "8" "55539543" "55539543" "subst" "0" "00008" "RP1_000289" "g.55539543A>G" "" "{PMID:Sullivan 2006:16799052}" "" "3101A>G" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000736482" "1" "10" "8" "55541865" "55541865" "subst" "4.0792E-6" "00008" "RP1_000078" "g.55541865T>C" "" "{PMID:Sullivan 2006:16799052}" "" "5423T>C" "Family has another pathogenic mutation" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000759598" "1" "90" "8" "55538549" "55538550" "dup" "0" "00000" "RP1_000293" "g.55538549_55538550dup" "" "{PMID:Carrigan 2016:27624628}" "" "2107_2108dupAA" "" "Germline" "" "" "0" "" "" "g.54625989_54625990dup" "" "pathogenic" "" "0000759599" "1" "90" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Carrigan 2016:27624628}" "" "2285_2289delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000759600" "1" "90" "8" "55540532" "55540532" "subst" "0" "00000" "RP1_000295" "g.55540532A>T" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.54627972A>T" "" "pathogenic" "" "0000759601" "1" "90" "8" "55538790" "55538790" "dup" "0" "00000" "RP1_000294" "g.55538790dup" "" "{PMID:Carrigan 2016:27624628}" "" "2348dupA" "" "Germline" "" "" "0" "" "" "g.54626230dup" "" "pathogenic" "" "0000759648" "0" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00006" "RP1_000018" "g.55542239C>T" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "rs118031911" "0" "" "" "" "" "pathogenic" "" "0000759649" "0" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00006" "RP1_000018" "g.55542239C>T" "" "{PMID:Fujinami 2016:27623337}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000759660" "1" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Zhang 2016:27596865}" "" "c.C1625G" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic (recessive)" "ACMG" "0000759676" "2" "90" "8" "55540547" "55540547" "subst" "4.06696E-6" "00000" "RP1_000142" "g.55540547C>T" "" "{PMID:Zhang 2016:27596865}" "" "c.C4105T" "" "Germline" "" "" "0" "" "" "g.54627987C>T" "" "pathogenic (recessive)" "ACMG" "0000759892" "1" "90" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Tiwari 2016:27391102}" "" "" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "pathogenic (dominant)" "" "0000759893" "1" "90" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Tiwari 2016:27391102}" "" "" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "pathogenic (dominant)" "" "0000759922" "3" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic (recessive)" "" "0000759923" "1" "90" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "pathogenic (recessive)" "" "0000759924" "1" "90" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "pathogenic (recessive)" "" "0000759925" "1" "90" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "pathogenic (recessive)" "" "0000760028" "0" "50" "8" "55534144" "55534144" "subst" "0.000348913" "00000" "RP1_000111" "g.55534144G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.54621584G>A" "" "VUS" "" "0000760235" "0" "50" "8" "55538040" "55538043" "del" "0" "00000" "RP1_000298" "g.55538040_55538043del" "" "{PMID:Ellingford 2016:27208204}" "" "1598_1601delGAAA" "" "Germline" "" "" "0" "" "" "g.54625480_54625483del" "" "VUS" "" "0000760238" "0" "50" "8" "55534803" "55534803" "subst" "0" "00000" "RP1_000296" "g.55534803C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.54622243C>T" "" "VUS" "" "0000760249" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "likely pathogenic" "" "0000760275" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Ellingford 2016:27208204}" "" "2613dupA" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000760282" "0" "50" "8" "55538474" "55538474" "subst" "4.07037E-6" "00000" "RP1_000173" "g.55538474C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.54625914C>T" "" "VUS" "" "0000760321" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Ellingford 2016:27208204}" "" "2285_2289delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000760333" "3" "50" "8" "55537904" "55537904" "del" "0" "00000" "RP1_000297" "g.55537904del" "" "{PMID:Ellingford 2016:27208204}" "" "1462delG" "" "Germline" "" "" "0" "" "" "g.54625344del" "" "VUS" "" "0000760343" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "likely pathogenic" "" "0000760348" "0" "50" "8" "55539191" "55539191" "subst" "0" "00000" "RP1_000299" "g.55539191C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.54626631C>T" "" "VUS" "" "0000760353" "0" "50" "8" "55533647" "55533647" "subst" "4.8727E-5" "00000" "RP1_000273" "g.55533647T>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.54621087T>C" "" "VUS" "" "0000760462" "0" "50" "8" "55534065" "55534065" "subst" "8.20412E-6" "00000" "RP1_000132" "g.55534065T>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.54621505T>G" "" "VUS" "" "0000760503" "0" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "" "0000760593" "3" "90" "8" "55541018" "55541018" "subst" "0" "00000" "RP1_000300" "g.55541018G>T" "" "{PMID:Khan 2017:27160483}" "" "" "" "Germline" "" "" "0" "" "" "g.54628458G>T" "" "pathogenic" "" "0000760594" "1" "90" "8" "55541888" "55541888" "subst" "0" "00000" "RP1_000301" "g.55541888T>C" "" "{PMID:Khan 2017:27160483}" "" "" "" "Germline" "" "" "0" "" "" "g.54629328T>C" "" "pathogenic" "" "0000760595" "1" "90" "8" "55539191" "55539191" "subst" "0" "00000" "RP1_000299" "g.55539191C>T" "" "{PMID:Khan 2017:27160483}" "" "" "" "Germline" "" "" "0" "" "" "g.54626631C>T" "" "pathogenic" "" "0000760659" "3" "90" "8" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Bravo-Gil 2016:27032803}" "" "" "" "Germline" "" "" "0" "" "" "g.54621334_54621335dup" "" "pathogenic" "" "0000764057" "1" "70" "8" "55538876" "55538876" "del" "0" "00000" "RP1_000303" "g.55538876del" "" "{PMID:Perez-Carro 2016:26806561}" "" "2431delA" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.54626316del" "" "likely pathogenic" "" "0000764058" "3" "70" "8" "55533931" "55533932" "dup" "0" "00000" "RP1_000302" "g.55533931_55533932dup" "" "{PMID:Perez-Carro 2016:26806561}" "" "400_401insGC" "" "Germline" "yes" "" "0" "" "" "g.54621371_54621372dup" "" "likely pathogenic" "" "0000764876" "1" "70" "8" "55538603" "55538603" "del" "0" "00000" "RP1_000304" "g.55538603del" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.54626043del" "" "likely pathogenic (dominant)" "" "0000764879" "1" "70" "8" "55538771" "55538771" "dup" "0" "00000" "RP1_000305" "g.55538771dup" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.54626211dup" "" "likely pathogenic (dominant)" "" "0000765656" "3" "90" "8" "55534740" "55534740" "subst" "0" "00000" "RP1_000306" "g.55534740T>G" "" "{PMID:Beheshtian 2015:26497376}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54622180T>G" "" "pathogenic (recessive)" "" "0000765761" "0" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.54627310del" "" "likely pathogenic" "" "0000765762" "0" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.54627310del" "" "likely pathogenic" "" "0000765765" "0" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.54627310del" "" "likely pathogenic" "" "0000765845" "0" "70" "8" "55534723" "55534723" "del" "0" "00000" "RP1_000007" "g.55534723del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.54622163del" "" "likely pathogenic" "" "0000765875" "0" "70" "8" "55538161" "55538165" "del" "0" "00000" "RP1_000253" "g.55538161_55538165del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.54625601_54625605del" "" "likely pathogenic" "" "0000765910" "0" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000766067" "0" "90" "8" "55534749" "55534749" "subst" "0" "00004" "RP1_000144" "g.55534749G>T" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000766068" "0" "90" "8" "55534749" "55534749" "subst" "0" "00004" "RP1_000144" "g.55534749G>T" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000783277" "0" "70" "8" "55537897" "55537897" "subst" "0" "00000" "RP1_000252" "g.55537897T>G" "" "{PMID:Yoon 2015:26155838}" "" "" "" "Germline" "" "" "0" "" "" "g.54625337T>G" "" "likely pathogenic (dominant)" "" "0000783279" "0" "70" "8" "55538738" "55538738" "subst" "0" "00000" "RP1_000308" "g.55538738C>T" "" "{PMID:Yoon 2015:26155838}" "" "" "" "Germline" "" "" "0" "" "" "g.54626178C>T" "" "likely pathogenic (dominant)" "" "0000784195" "0" "90" "8" "55538559" "55538559" "del" "0" "00000" "RP1_000313" "g.55538559del" "" "{PMID:Xu 2014:24938718}" "" "c.2117delG" "" "Germline" "" "" "0" "" "" "g.54625999del" "" "pathogenic (dominant)" "" "0000784196" "1" "90" "8" "55533952" "55533952" "dup" "0" "00000" "RP1_000309" "g.55533952dup" "" "{PMID:Xu 2014:24938718}" "" "c.426dupA" "" "Germline" "" "" "0" "" "" "g.54621392dup" "" "pathogenic (recessive)" "" "0000784279" "0" "50" "8" "55538954" "55538954" "subst" "0" "00000" "RP1_000315" "g.55538954T>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.54626394T>A" "" "VUS" "" "0000784417" "0" "50" "8" "55539347" "55539347" "subst" "8.542E-5" "00000" "RP1_000317" "g.55539347A>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs181497543" "0" "" "" "g.54626787A>G" "" "VUS" "" "0000784431" "0" "50" "8" "55538558" "55538558" "subst" "0.000325362" "00000" "RP1_000009" "g.55538558G>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs199879316" "0" "" "" "g.54625998G>C" "" "VUS" "" "0000784458" "0" "50" "8" "55540316" "55540316" "subst" "4.4674E-5" "00000" "RP1_000248" "g.55540316T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.54627756T>C" "" "VUS" "" "0000784473" "0" "50" "8" "55537879" "55537879" "subst" "4.06345E-5" "00000" "RP1_000072" "g.55537879G>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.54625319G>T" "" "VUS" "" "0000784476" "0" "50" "8" "55534013" "55534013" "subst" "0.000751065" "00000" "RP1_000110" "g.55534013G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.54621453G>A" "" "VUS" "" "0000784528" "0" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs118031911" "0" "" "" "g.54629679C>T" "" "VUS" "" "0000784548" "0" "50" "8" "55541006" "55541006" "subst" "2.03794E-5" "00000" "RP1_000320" "g.55541006G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.54628446G>A" "" "VUS" "" "0000784559" "0" "50" "8" "55539434" "55539434" "subst" "4.06924E-6" "00000" "RP1_000318" "g.55539434G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.54626874G>A" "" "VUS" "" "0000784573" "2" "90" "8" "55534133" "55534133" "subst" "0" "00000" "RP1_000310" "g.55534133G>C" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.54621573G>C" "" "pathogenic (recessive)" "" "0000784601" "1" "50" "8" "55537272" "55537272" "subst" "0" "00000" "RP1_000311" "g.55537272C>T" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.54624712C>T" "" "VUS" "" "0000785398" "3" "90" "8" "55534747" "55534747" "del" "0" "00000" "RP1_000003" "g.55534747del" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.54622187del" "" "pathogenic (recessive)" "" "0000785527" "0" "90" "8" "55538423" "55538423" "subst" "0" "00000" "RP1_000172" "g.55538423G>T" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.54625863G>T" "" "pathogenic (dominant)" "" "0000785528" "0" "90" "8" "55538730" "55538730" "del" "0" "00000" "RP1_000314" "g.55538730del" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.2286delA" "" "Germline" "" "" "0" "" "" "g.54626170del" "" "pathogenic (dominant)" "" "0000785529" "0" "90" "8" "55539187" "55539191" "del" "0" "00000" "RP1_000316" "g.55539187_55539191del" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.54626627_54626631del" "" "pathogenic (dominant)" "" "0000785534" "0" "90" "8" "55540770" "55540770" "subst" "8.13411E-6" "00000" "RP1_000319" "g.55540770G>A" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.54628210G>A" "" "pathogenic (dominant)" "" "0000785560" "2" "90" "8" "55542257" "55542257" "subst" "0" "00000" "RP1_000321" "g.55542257A>T" "" "{PMID:Liu 2015:25611614}" "" "5815A>T" "" "Germline" "" "" "0" "" "" "g.54629697A>T" "" "pathogenic (recessive)" "" "0000785580" "1" "90" "8" "55537861" "55537862" "del" "0" "00000" "RP1_000312" "g.55537861_55537862del" "" "{PMID:Liu 2015:25611614}" "" "c.1419_1420del" "" "Germline" "" "" "0" "" "" "g.54625301_54625302del" "" "pathogenic (recessive)" "" "0000786304" "1" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000786315" "1" "90" "8" "55541024" "55541027" "del" "0" "00000" "RP1_000323" "g.55541024_55541027del" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "4582_4585delATCA" "" "Germline" "" "" "0" "" "" "g.54628464_54628467del" "" "pathogenic" "" "0000786316" "3" "90" "8" "55542404" "55542404" "dup" "0" "00000" "RP1_000283" "g.55542404dup" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "5962dupA" "" "Germline" "" "" "0" "" "" "g.54629844dup" "" "pathogenic" "" "0000786320" "2" "90" "8" "55542404" "55542404" "dup" "0" "00000" "RP1_000283" "g.55542404dup" "" "0" "" "5962dupA" "" "Germline" "" "" "0" "" "" "g.54629844dup" "" "pathogenic" "" "0000786323" "11" "90" "8" "55542404" "55542404" "dup" "0" "00006" "RP1_000283" "g.55542404dup" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000786335" "1" "90" "8" "55542115" "55542115" "subst" "0.000204225" "00000" "RP1_000153" "g.55542115G>T" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.54629555G>T" "" "pathogenic" "" "0000786384" "2" "90" "8" "55539269" "55539269" "dup" "0" "00000" "RP1_000322" "g.55539269dup" "" "{PMID:Zhao 2015:25472526}" "" "2826_2827insA" "" "Germline" "" "" "0" "" "" "g.54626709dup" "" "pathogenic" "" "0000787626" "3" "70" "8" "55533906" "55533906" "subst" "0" "00000" "RP1_000325" "g.55533906G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54621346G>A" "" "likely pathogenic" "" "0000787632" "1" "70" "8" "55539665" "55539665" "subst" "0" "00000" "RP1_000327" "g.55539665G>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54627105G>T" "" "likely pathogenic" "" "0000787634" "3" "70" "8" "55534739" "55534739" "del" "0" "00000" "RP1_000326" "g.55534739del" "" "{PMID:Huang 2015:25356976}" "" "678delA" "" "Germline" "yes" "" "0" "" "" "g.54622179del" "" "likely pathogenic" "" "0000787705" "2" "70" "8" "55533783" "55533783" "dup" "0" "00000" "RP1_000324" "g.55533783dup" "" "0" "" "254_255insC" "" "Germline" "yes" "" "0" "" "" "g.54621223dup" "" "likely pathogenic" "" "0000788112" "3" "90" "8" "55534711" "55534711" "del" "0" "00000" "RP1_000329" "g.55534711del" "" "{PMID:Oishi 2014:25324289}" "" "649delG" "" "Germline" "" "" "0" "" "" "g.54622151del" "" "pathogenic" "" "0000788113" "3" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "00000" "RP1_000257" "g.55537628C>T" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.54625068C>T" "" "pathogenic" "" "0000788145" "1" "70" "8" "55541318" "55541318" "subst" "4.06547E-6" "00000" "RP1_000196" "g.55541318G>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.54628758G>A" "" "likely pathogenic" "" "0000788377" "0" "50" "8" "55533999" "55533999" "subst" "0" "00000" "RP1_000328" "g.55533999T>G" "" "{PMID:Katagiri 2014:25268133}" "" "T473G" "" "Germline" "" "" "0" "" "" "g.54621439T>G" "" "VUS" "" "0000788391" "0" "50" "8" "55538842" "55538842" "subst" "0" "00000" "RP1_000332" "g.55538842A>T" "" "{PMID:Katagiri 2014:25268133}" "" "A2400T" "" "Germline" "" "" "0" "" "" "g.54626282A>T" "" "VUS" "" "0000788432" "0" "50" "8" "55538467" "55538467" "dup" "0" "00000" "RP1_000330" "g.55538467dup" "" "{PMID:Katagiri 2014:25268133}" "" "2020dupA" "" "Germline" "" "" "0" "" "" "g.54625907dup" "" "VUS" "" "0000788520" "0" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C5797T" "" "Germline" "" "rs118031911" "0" "" "" "g.54629679C>T" "" "VUS" "" "0000788536" "1" "90" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Watson 2014:25133751}" "" "2285_2289delTAAAT" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000788542" "1" "70" "8" "55538784" "55538784" "subst" "0" "00000" "RP1_000331" "g.55538784C>G" "" "{PMID:Pan 2014:24940031}" "" "" "" "Germline" "" "" "0" "" "" "g.54626224C>G" "" "likely pathogenic" "" "0000790436" "3" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Wang 2014:25097241}" "" "c.4196delG" "" "Germline" "" "" "0" "" "" "g.54628078del" "" "likely pathogenic" "" "0000790437" "3" "70" "8" "55537238" "55537238" "delins" "0" "00000" "RP1_000333" "g.55537238delinsTA" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.54624678delinsTA" "" "likely pathogenic" "" "0000790531" "0" "50" "8" "55538010" "55538010" "subst" "8.13743E-5" "00000" "RP1_000334" "g.55538010A>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs144309486" "0" "" "" "g.54625450A>G" "" "VUS" "" "0000790532" "0" "50" "8" "55538697" "55538697" "subst" "0.00218278" "00000" "RP1_000010" "g.55538697C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs28399531" "0" "" "" "g.54626137C>T" "" "VUS" "" "0000790542" "1" "50" "8" "55537560" "55537560" "subst" "0.0126036" "00000" "RP1_000004" "g.55537560C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.54625000C>T" "" "VUS" "" "0000791194" "10" "90" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "ACMG" "0000791231" "3" "90" "8" "55533744" "55533763" "dup" "0" "00000" "RP1_000335" "g.55533744_55533763dup" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.54621184_54621203dup" "" "pathogenic" "ACMG" "0000791521" "0" "70" "8" "55538423" "55538423" "subst" "0" "00000" "RP1_000172" "g.55538423G>T" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54625863G>T" "" "likely pathogenic" "" "0000791522" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54625911C>T" "" "likely pathogenic" "" "0000791523" "0" "70" "8" "55538498" "55538498" "subst" "0" "00000" "RP1_000027" "g.55538498C>T" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54625938C>T" "" "likely pathogenic" "" "0000791524" "0" "70" "8" "55538522" "55538522" "subst" "0" "00000" "RP1_000336" "g.55538522G>T" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54625962G>T" "" "likely pathogenic" "" "0000791525" "0" "70" "8" "55538557" "55538557" "del" "0" "00000" "RP1_000042" "g.55538557del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "c.2115delA" "" "Germline" "?" "" "0" "" "" "g.54625997del" "" "likely pathogenic" "" "0000791526" "0" "70" "8" "55538606" "55538607" "delins" "0" "00000" "RP1_000043" "g.55538606_55538607delinsG" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54626046_54626047delinsG" "" "likely pathogenic" "" "0000791527" "0" "70" "8" "55538674" "55538674" "subst" "0" "00000" "RP1_000050" "g.55538674T>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54626114T>A" "" "likely pathogenic" "" "0000791528" "0" "70" "8" "55538730" "55538730" "del" "0" "00000" "RP1_000314" "g.55538730del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54626170del" "" "likely pathogenic" "" "0000791529" "0" "70" "8" "55538731" "55538741" "del" "0" "00000" "RP1_000337" "g.55538731_55538741del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54626171_54626181del" "" "likely pathogenic" "" "0000791530" "0" "70" "8" "55539187" "55539191" "del" "0" "00000" "RP1_000316" "g.55539187_55539191del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54626627_54626631del" "" "likely pathogenic" "" "0000791531" "0" "70" "8" "55540770" "55540770" "subst" "8.13411E-6" "00000" "RP1_000319" "g.55540770G>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.54628210G>A" "" "likely pathogenic" "" "0000791926" "0" "10" "8" "55538722" "55538726" "del" "0" "00000" "RP1_000264" "g.55538722_55538726del" "7.32%" "{PMID:Bowne 2011:20861475}" "" "del2280–2284" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000792357" "0" "70" "8" "55533815" "55533815" "subst" "0" "03508" "RP1_000338" "g.55533815G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000792358" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "03508" "RP1_000256" "g.55540638del" "" "" "" "4196delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000792401" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "03508" "RP1_000256" "g.55540638del" "" "" "" "4196delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000792402" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "03508" "RP1_000018" "g.55542239C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000793741" "3" "50" "8" "55534747" "55534747" "del" "0" "00000" "RP1_000003" "g.55534747del" "" "{PMID:Collin-2011:21217109}" "" "c.686del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000793749" "0" "10" "8" "55540692" "55540692" "subst" "0.00135913" "00000" "RP1_000016" "g.55540692T>C" "0.00% in 360 controls" "{PMID:Simpson-2011:21147909}" "" "c.4250T>C" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000793750" "0" "10" "8" "55537560" "55537560" "subst" "0.0126036" "00000" "RP1_000004" "g.55537560C>T" "1.00% in 360 controls" "{PMID:Simpson-2011:21147909}" "" "c.1118C>T" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000793922" "0" "70" "8" "55538471" "55538471" "subst" "0" "03508" "RP1_000068" "g.55538471C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000793923" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "03508" "RP1_000018" "g.55542239C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000793944" "0" "70" "8" "55533674" "55533674" "subst" "1.62426E-5" "00000" "RP1_000341" "g.55533674G>C" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.148G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794008" "0" "90" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Blanco-Kelly-2012:22736939}" "" "p.Arg677Stop" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000794009" "0" "90" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Blanco-Kelly-2012:22736939}" "" "p.Lys705fsX711" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000794010" "0" "90" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Blanco-Kelly-2012:22736939}" "" "p.Cys744Stop" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000794045" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "03508" "RP1_000256" "g.55540638del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000794068" "0" "70" "8" "55540494" "55540495" "ins" "0" "03508" "RP1_000339" "g.55540494_55540495insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794069" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "03508" "RP1_000018" "g.55542239C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794114" "0" "70" "8" "55541024" "55541027" "del" "0" "03508" "RP1_000323" "g.55541024_55541027del" "" "" "" "4582_4585delATCA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54628464_54628467del" "" "pathogenic" "ACMG" "0000794115" "0" "70" "8" "55538680" "55538681" "del" "0" "03508" "RP1_000340" "g.55538680_55538681del" "" "" "" "2238_2239delAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54626120_54626121del" "" "pathogenic" "ACMG" "0000794122" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "03508" "RP1_000256" "g.55540638del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000794123" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "03508" "RP1_000018" "g.55542239C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794135" "0" "30" "8" "55538282" "55538282" "subst" "0" "03779" "RP1_000342" "g.55538282C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000794375" "3" "90" "8" "55533952" "55533952" "dup" "0" "00000" "RP1_000309" "g.55533952dup" "" "{PMID:Wang 2018:30029497}" "" "NM_006269.1:c.426dup, NP_006260.1:p.(Ala143SerfsTer86), NC_000008.10:g.55533952dup" "" "Germline" "?" "" "0" "" "" "g.54621392dup" "" "pathogenic" "ACMG" "0000794376" "0" "90" "8" "55541185" "55541185" "dup" "0" "00000" "RP1_000349" "g.55541185dup" "" "{PMID:Wang 2018:30029497}" "" "NM_006269.1:c.4743dup, NP_006260.1:p.(Cys1582MetfsTer9), NC_000008.10:g.55541185dup" "" "Germline" "?" "" "0" "" "" "g.54628625dup" "" "pathogenic" "ACMG" "0000794377" "0" "90" "8" "55541973" "55541973" "dup" "0" "00000" "RP1_000351" "g.55541973dup" "" "{PMID:Wang 2018:30029497}" "" "NM_006269.1:c.5531dup, NP_006260.1:p.(Glu1845GlyfsTer13), NC_000008.10:g.55541973dup" "" "Germline" "?" "" "0" "" "" "g.54629413dup" "" "pathogenic" "ACMG" "0000794378" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Wang 2018:30029497}" "" "NM_006269.1:c.2029C>T, NP_006260.1:p.(Arg677Ter), NC_000008.10:g.55538471C>T" "" "Germline" "?" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "ACMG" "0000794694" "3" "70" "8" "55542623" "55542623" "del" "0" "03508" "RP1_000343" "g.55542623del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54630063del" "" "pathogenic" "ACMG" "0000794757" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "03508" "RP1_000018" "g.55542239C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794765" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "03508" "RP1_000256" "g.55540638del" "" "" "" "4196delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000794766" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "03508" "RP1_000018" "g.55542239C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794767" "0" "70" "8" "55542795" "55542795" "subst" "2.45357E-5" "03508" "RP1_000203" "g.55542795G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794768" "0" "70" "8" "55542247" "55542247" "dup" "0" "03508" "RP1_000344" "g.55542247dup" "" "" "" "5805dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54629687dup" "" "pathogenic" "ACMG" "0000794769" "0" "70" "8" "55542623" "55542623" "del" "0" "03508" "RP1_000343" "g.55542623del" "" "" "" "6181delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54630063del" "" "pathogenic" "ACMG" "0000794779" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "03508" "RP1_000256" "g.55540638del" "" "" "" "4196delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000794780" "0" "70" "8" "55542795" "55542795" "subst" "2.45357E-5" "03508" "RP1_000203" "g.55542795G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794838" "21" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_006269, c.1625C>G, p.Ser542Ter" "" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000794839" "11" "70" "8" "55533753" "55533753" "subst" "0" "00000" "RP1_000345" "g.55533753T>C" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_006269, c.227T>C, p.Leu76Pro" "" "Germline" "yes" "" "0" "" "" "g.54621193T>C" "" "likely pathogenic" "" "0000794842" "21" "70" "8" "55541246" "55541246" "subst" "1.22034E-5" "00000" "RP1_000350" "g.55541246C>T" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_006269, c.4804C>T, p.Gln1602Ter" "" "Germline" "yes" "" "0" "" "" "g.54628686C>T" "" "likely pathogenic" "" "0000794843" "10" "70" "8" "55538279" "55538279" "dup" "0" "00000" "RP1_000346" "g.55538279dup" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_006269, c.1837dup, p.Thr613AsnfsTer6" "" "Germline" "yes" "" "0" "" "" "g.54625719dup" "" "likely pathogenic" "" "0000794887" "21" "70" "8" "55540494" "55540495" "ins" "0" "03508" "RP1_000255" "g.55540494_55540495insN[328]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794888" "0" "70" "8" "55540494" "55540495" "ins" "0" "03508" "RP1_000255" "g.55540494_55540495insN[328]" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000794894" "0" "70" "8" "55540494" "55540495" "ins" "0" "03508" "RP1_000255" "g.55540494_55540495insN[328]" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000794930" "0" "70" "8" "55539393" "55539393" "subst" "9.75967E-5" "00000" "RP1_000039" "g.55539393A>G" "1/336 cases; 0/360 controls" "{PMID:Kim-2012:23049240}" "" "c.2951A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794936" "0" "30" "8" "55538558" "55538558" "subst" "0.000325362" "00000" "RP1_000009" "g.55538558G>C" "1/336 cases; 1/360 controls" "{PMID:Kim-2012:23049240}" "" "c.2116G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000794995" "3" "50" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.606C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794996" "3" "50" "8" "55540994" "55540994" "subst" "0" "00000" "RP1_000348" "g.55540994A>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.4552A>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794997" "3" "50" "8" "55534723" "55534723" "del" "0" "00000" "RP1_000007" "g.55534723del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.662delC" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794998" "3" "50" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.3428delA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794999" "3" "50" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.3428delA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795000" "3" "50" "8" "55540119" "55540120" "dup" "0" "00000" "RP1_000347" "g.55540119_55540120dup" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.3677_3678dupA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795001" "3" "50" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.3428delA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795067" "3" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "00000" "RP1_000257" "g.55537628C>T" "" "{PMID:Bocquet-2013:23350551}" "" "c.1186C>T" "" "Germline" "" "rs201493928" "0" "" "" "" "" "pathogenic" "" "0000795072" "3" "90" "8" "55539860" "55539861" "del" "0" "00000" "RP1_000258" "g.55539860_55539861del" "" "{PMID:Bocquet-2013:23350551}" "" "c.3418delGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795784" "0" "70" "8" "55538876" "55538876" "del" "0" "00000" "RP1_000303" "g.55538876del" "" "{PMID:Perez-Carro 2018:29912909}" "" "c.2431del" "" "Germline" "?" "" "0" "" "" "g.54626316del" "" "likely pathogenic" "" "0000795786" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Perez-Carro 2018:29912909}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000795997" "0" "50" "8" "55539347" "55539347" "subst" "8.542E-5" "00000" "RP1_000317" "g.55539347A>G" "" "{PMID:Chen-2013:23661368}" "" "c.2905A>G" "" "Unknown" "" "rs181497543" "0" "" "" "" "" "VUS" "" "0000796181" "0" "70" "8" "55539057" "55539057" "subst" "0.274715" "00000" "RP1_000034" "g.55539057G>A" "" "{PMID:Neveling-2013:24123792}" "" "c.2615G>A" "-" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000796695" "0" "90" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.3157delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796696" "0" "90" "8" "55534123" "55534123" "subst" "0" "00000" "RP1_000353" "g.55534123C>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.597C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796699" "0" "90" "8" "55540684" "55540685" "del" "0" "00000" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.4242_4243del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796700" "0" "90" "8" "55540916" "55540916" "subst" "0" "00000" "RP1_000359" "g.55540916G>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.4474G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796701" "3" "90" "8" "55537454" "55537454" "subst" "0" "00000" "RP1_000097" "g.55537454C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1012C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796703" "3" "90" "8" "55541720" "55541729" "del" "0" "00000" "RP1_000362" "g.55541720_55541729del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5278_5287del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796712" "3" "90" "8" "55534133" "55534133" "subst" "0" "00000" "RP1_000245" "g.55534133G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.607G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796734" "0" "70" "8" "55542746" "55542746" "subst" "0" "00000" "RP1_000363" "g.55542746C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.6304C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796792" "0" "70" "8" "55537822" "55537822" "subst" "5.28649E-5" "00000" "RP1_000113" "g.55537822G>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1380G>C" "" "Germline" "" "rs143494598" "0" "" "" "" "" "likely pathogenic" "" "0000796800" "3" "90" "8" "55540285" "55540285" "del" "0" "00000" "RP1_000141" "g.55540285del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.3843delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796810" "0" "70" "8" "55539633" "55539633" "subst" "0" "00000" "RP1_000356" "g.55539633G>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.3191G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796835" "0" "70" "8" "55541690" "55541690" "subst" "0" "00000" "RP1_000361" "g.55541690G>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5248G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796865" "0" "70" "8" "55540031" "55540031" "subst" "0.000223734" "00000" "RP1_000357" "g.55540031A>G" "" "{PMID:Eisenberger-2013:24265693}" "" "c.3589A>G" "" "Germline" "" "rs201446128" "0" "" "" "" "" "likely pathogenic" "" "0000796953" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Sullivan-2013:23950152}" "" "c.2029C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796954" "0" "70" "8" "55538609" "55538609" "subst" "0" "00000" "RP1_000044" "g.55538609G>T" "" "{PMID:Sullivan-2013:23950152}" "" "c.2167G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796955" "0" "70" "8" "55538614" "55538627" "del" "0" "00000" "RP1_000045" "g.55538614_55538627del" "" "{PMID:Sullivan-2013:23950152}" "" "c.2172_2185del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796956" "0" "70" "8" "55538622" "55538623" "delins" "0" "00000" "RP1_000254" "g.55538622_55538623delinsAA" "" "{PMID:Sullivan-2013:23950152}" "" "c.2180_2181delinsAA" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796957" "0" "70" "8" "55538623" "55538623" "subst" "0" "00000" "RP1_000354" "g.55538623T>A" "" "{PMID:Sullivan-2013:23950152}" "" "c.2181T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796958" "0" "70" "8" "55538636" "55538636" "subst" "0" "00000" "RP1_000280" "g.55538636C>T" "" "{PMID:Sullivan-2013:23950152}" "" "c.2194C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796959" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Sullivan-2013:23950152}" "" "c.2285_2289del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796960" "0" "70" "8" "55539027" "55539027" "subst" "0" "00000" "RP1_000355" "g.55539027C>G" "" "{PMID:Sullivan-2013:23950152}" "" "c.2585C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796995" "0" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Corton-2013:23940504}" "" "c.1625C.G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796996" "0" "90" "8" "55541246" "55541246" "subst" "1.22034E-5" "00000" "RP1_000350" "g.55541246C>T" "" "{PMID:Corton-2013:23940504}" "" "c.4804C.T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796997" "3" "90" "8" "55541615" "55541615" "subst" "0" "00000" "RP1_000360" "g.55541615C>T" "" "{PMID:Corton-2013:23940504}" "" "c.5173C.T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000797000" "0" "10" "8" "55539057" "55539057" "subst" "0.274715" "00000" "RP1_000034" "g.55539057G>A" "146/300 controls" "{PMID:Ma-2013:23991373}" "" "c.2615G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000797001" "0" "90" "8" "55540769" "55540769" "subst" "4.47322E-5" "00000" "RP1_000358" "g.55540769C>T" "0/300 controls" "{PMID:Ma-2013:23991373}" "" "c.4327C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000797002" "0" "10" "8" "55541450" "55541450" "subst" "0.258505" "00000" "RP1_000088" "g.55541450G>A" "147/300 controls" "{PMID:Ma-2013:23991373}" "" "c.5008G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000797003" "0" "10" "8" "55541513" "55541513" "subst" "0.276351" "00000" "RP1_000089" "g.55541513T>C" "147/300 controls" "{PMID:Ma-2013:23991373}" "" "c.5071T>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000797004" "0" "10" "8" "55541617" "55541617" "subst" "0.256953" "00000" "RP1_000129" "g.55541617A>G" "147/300 controls" "{PMID:Ma-2013:23991373}" "" "c.5175A>G" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000797010" "0" "50" "8" "55533903" "55533903" "subst" "1.24762E-5" "00000" "RP1_000352" "g.55533903C>T" "" "{PMID:Wang-2014:24154662}" "" "c.377C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000797096" "0" "50" "8" "55538105" "55538105" "subst" "0" "00000" "RP1_000368" "g.55538105C>G" "" "{PMID:Birtel 2018:30543658}" "" "c.1663C>G, p.Gln555Glu" "Heterozygous" "Germline" "?" "" "0" "" "" "g.54625545C>G" "" "VUS" "ACMG" "0000797165" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Birtel 2018:30543658}" "" "c.2029C>T, p.Arg677*" "Heterozygous" "Germline" "" "rs104894082" "0" "" "" "g.54625911C>T" "" "pathogenic" "ACMG" "0000797497" "3" "70" "8" "55537900" "55537903" "dup" "0" "00000" "RP1_000005" "g.55537900_55537903dup" "" "{PMID:Nanda 2019:30731082}" "" "c.1458_1461dup, p.(Ser486fs)" "error in annotation: a known pathogenic variant c.1458_1461dup causes p.(Glu488*) and not p.(Ser486fs)" "Germline" "" "" "0" "" "" "g.54625340_54625343dup" "" "likely pathogenic" "" "0000797498" "3" "70" "8" "55541018" "55541018" "subst" "0" "00000" "RP1_000300" "g.55541018G>T" "" "{PMID:Nanda 2019:30731082}" "" "c.4576G>T, p.(Glu1526*)" "homozygous" "Germline" "" "" "0" "" "" "g.54628458G>T" "" "likely pathogenic" "" "0000797499" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Nanda 2019:30731082}" "" "c.2285_2289del, p.(Leu762Tyrfs*17)" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000797500" "0" "70" "8" "55539038" "55539039" "del" "0" "00000" "RP1_000372" "g.55539038_55539039del" "" "{PMID:Nanda 2019:30731082}" "" "c.2596_2597del, p.(Leu866Lysfs*7)" "" "Germline" "" "" "0" "" "" "g.54626478_54626479del" "" "likely pathogenic" "" "0000797501" "0" "70" "8" "55538614" "55538627" "del" "0" "00000" "RP1_000045" "g.55538614_55538627del" "" "{PMID:Nanda 2019:30731082}" "" "c.2172_2185del, p.(Ile725Argfs*6)" "" "Germline" "" "" "0" "" "" "g.54626054_54626067del" "" "likely pathogenic" "" "0000797502" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Nanda 2019:30731082}" "" "c.2613dup, p.(Arg872Thrfs*2)" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000797503" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Nanda 2019:30731082}" "" "c.2029C>T, p.(Arg677*)" "" "Germline" "" "" "0" "" "" "g.54625911C>T" "" "likely pathogenic" "" "0000797504" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Nanda 2019:30731082}" "" "c.2613dup, p.(Arg872fs)" "" "Germline" "" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000797505" "0" "70" "8" "55538477" "55538477" "subst" "0" "00000" "RP1_000020" "g.55538477C>T" "" "{PMID:Nanda 2019:30731082}" "" "c.2035C>T, p.(gln679*)" "" "Germline" "" "" "0" "" "" "g.54625917C>T" "" "likely pathogenic" "" "0000797506" "0" "70" "8" "55538641" "55538642" "del" "0" "00000" "RP1_000371" "g.55538641_55538642del" "" "{PMID:Nanda 2019:30731082}" "" "c.2199_2200del, p.(Ser734*)" "" "Germline" "" "" "0" "" "" "g.54626081_54626082del" "" "likely pathogenic" "" "0000797507" "0" "70" "8" "55539191" "55539191" "subst" "0" "00000" "RP1_000299" "g.55539191C>T" "" "{PMID:Nanda 2019:30731082}" "" "c.2749C>T, p.(Gln917*)" "" "Germline" "" "" "0" "" "" "g.54626631C>T" "" "likely pathogenic" "" "0000797508" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Nanda 2019:30731082}" "" "c.2285_2289del, p.(Leu762Tyrfs*17)" "" "Germline" "" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000797509" "0" "70" "8" "55538641" "55538642" "del" "0" "00000" "RP1_000371" "g.55538641_55538642del" "" "{PMID:Nanda 2019:30731082}" "" "c.2199_2200del, p.(Ser734*)" "" "Germline" "" "" "0" "" "" "g.54626081_54626082del" "" "likely pathogenic" "" "0000797510" "0" "70" "8" "55539038" "55539039" "del" "0" "00000" "RP1_000372" "g.55539038_55539039del" "" "{PMID:Nanda 2019:30731082}" "" "c.2596_2597del, p.(Leu866Lysfs*7)" "" "Germline" "" "" "0" "" "" "g.54626478_54626479del" "" "likely pathogenic" "" "0000797511" "0" "70" "8" "55538605" "55538605" "dup" "0" "00000" "RP1_000370" "g.55538605dup" "" "{PMID:Nanda 2019:30731082}" "" "c.2161_2162ins, p.(Leu722*)" "error in annotation, inserted nucleotides not indicated. p.(Leu722*) is caused by c.2163dup" "Germline" "" "" "0" "" "" "g.54626045dup" "" "likely pathogenic" "" "0000797526" "0" "70" "8" "55542613" "55542616" "del" "0" "00000" "RP1_000377" "g.55542613_55542616del" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS4 c.1106+2T>A, p.(?), c.1106+2T>A, p.(?), ABCA4 c.5882G>A, p.(Gly1961Glu)" "" "Germline" "?" "" "0" "" "" "g.54630053_54630056del" "" "likely pathogenic" "ACMG" "0000797796" "0" "70" "8" "55538468" "55538468" "del" "0" "00000" "RP1_000284" "g.55538468del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2026del, p.(Ser676Leufs*6)" "" "Germline" "?" "" "0" "" "" "g.54625908del" "" "likely pathogenic" "ACMG" "0000797797" "3" "70" "8" "55537893" "55537893" "subst" "0" "00000" "RP1_000134" "g.55537893C>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.1451C>A, p.(Ser484*), c.1451C>A, p.(Ser484*)" "homozygous" "Germline" "?" "" "0" "" "" "g.54625333C>A" "" "likely pathogenic" "ACMG" "0000797798" "3" "70" "8" "55541018" "55541018" "subst" "0" "00000" "RP1_000300" "g.55541018G>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.4576G>T, p.(Glu1526*), c.4576G>T, p.(Glu1526*)" "homozygous" "Germline" "?" "" "0" "" "" "g.54628458G>T" "" "likely pathogenic" "ACMG" "0000797799" "0" "90" "8" "55539132" "55539137" "del" "0" "00000" "RP1_000373" "g.55539132_55539137del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2690_2695del, p.(Ser897*)" "" "Germline" "?" "" "0" "" "" "g.54626572_54626577del" "" "pathogenic" "ACMG" "0000797801" "0" "90" "8" "55539132" "55539137" "del" "0" "00000" "RP1_000373" "g.55539132_55539137del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2690_2695del, p.(Ser897*), RBP4 c.67C>T, p.(Arg23*)" "" "Germline" "?" "" "0" "" "" "g.54626572_54626577del" "" "pathogenic" "ACMG" "0000797802" "0" "90" "8" "55539027" "55539027" "subst" "0" "00000" "RP1_000355" "g.55539027C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2585C>G, p.(Ser862*)" "" "Germline" "?" "" "0" "" "" "g.54626467C>G" "" "pathogenic" "ACMG" "0000797803" "0" "70" "8" "55538497" "55538497" "subst" "0" "00000" "RP1_000369" "g.55538497T>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2055T>G, p.(Tyr685*)" "" "Germline" "?" "" "0" "" "" "g.54625937T>G" "" "likely pathogenic" "ACMG" "0000797804" "0" "90" "8" "55539132" "55539137" "del" "0" "00000" "RP1_000373" "g.55539132_55539137del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2690_2695del, p.(Ser897*)" "" "Germline" "?" "" "0" "" "" "g.54626572_54626577del" "" "pathogenic" "ACMG" "0000797805" "0" "70" "8" "55538557" "55538557" "del" "0" "00000" "RP1_000042" "g.55538557del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2115del, p.(Gly706Valfs*7)" "" "Germline" "?" "" "0" "" "" "g.54625997del" "" "likely pathogenic" "ACMG" "0000797806" "0" "70" "8" "55537228" "55537228" "subst" "0" "00000" "RP1_000366" "g.55537228A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.788-2A>T, p.(?), c.3688C>T, p.(Gln1230*)" "" "Germline" "?" "" "0" "" "" "g.54624668A>T" "" "likely pathogenic" "ACMG" "0000797807" "0" "70" "8" "55540130" "55540130" "subst" "0" "00000" "RP1_000375" "g.55540130C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.788-2A>T, p.(?), c.3688C>T, p.(Gln1230*)" "" "Germline" "?" "" "0" "" "" "g.54627570C>T" "" "likely pathogenic" "ACMG" "0000797808" "0" "90" "8" "55539132" "55539137" "del" "0" "00000" "RP1_000373" "g.55539132_55539137del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2690_2695del, p.(Ser897*)" "" "Germline" "?" "" "0" "" "" "g.54626572_54626577del" "" "pathogenic" "ACMG" "0000797809" "3" "70" "8" "55533795" "55533795" "del" "0" "00000" "RP1_000364" "g.55533795del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.269del, p.(His90Profs*26), c.269del, p.(His90Profs*26)" "homozygous" "Germline" "?" "" "0" "" "" "g.54621235del" "" "likely pathogenic" "ACMG" "0000797810" "0" "90" "8" "55539132" "55539137" "del" "0" "00000" "RP1_000373" "g.55539132_55539137del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2690_2695del, p.(Ser897*)" "" "Germline" "?" "" "0" "" "" "g.54626572_54626577del" "" "pathogenic" "ACMG" "0000797811" "0" "70" "8" "55538468" "55538468" "del" "0" "00000" "RP1_000284" "g.55538468del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2026del, p.(Ser676Leufs*6)" "" "Germline" "?" "" "0" "" "" "g.54625908del" "" "likely pathogenic" "ACMG" "0000797814" "0" "70" "8" "55537568" "55537568" "subst" "1.62536E-5" "00000" "RP1_000102" "g.55537568C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP2 c.16_18del, p.(Ser6del), RP1 c.1126C>T, p.(Arg376*)" "" "Germline" "?" "" "0" "" "" "g.54625008C>T" "" "likely pathogenic" "ACMG" "0000798066" "0" "50" "8" "55542247" "55542247" "subst" "0.000146642" "00000" "RP1_000021" "g.55542247T>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.3101A>T, p.(His1034Leu), c.5805T>G, p.(Phe1935Leu), USH2A c.11815G>A, p.(Glu3939Lys)" "" "Germline" "?" "" "0" "" "" "g.54629687T>G" "" "VUS" "ACMG" "0000798067" "0" "50" "8" "55539543" "55539543" "subst" "0.000146288" "00000" "RP1_000374" "g.55539543A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.3101A>T, p.(His1034Leu), c.5805T>G, p.(Phe1935Leu), USH2A c.11815G>A, p.(Glu3939Lys)" "" "Germline" "?" "" "0" "" "" "g.54626983A>T" "" "VUS" "ACMG" "0000798069" "0" "50" "8" "55541084" "55541084" "subst" "2.44095E-5" "00000" "RP1_000376" "g.55541084A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.4642A>T, p.(Ser1548Cys), CNGB1 c.2957A>T, p.(Asn986Ile)" "" "Germline" "?" "" "0" "" "" "g.54628524A>T" "" "VUS" "ACMG" "0000798071" "3" "50" "8" "55534104" "55534104" "subst" "0" "00000" "RP1_000365" "g.55534104G>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.578G>C, p.(Arg193Pro), c.578G>C, p.(Arg193Pro)" "homozygous" "Germline" "?" "" "0" "" "" "g.54621544G>C" "" "VUS" "ACMG" "0000798072" "0" "50" "8" "55542247" "55542247" "subst" "0.000146642" "00000" "RP1_000021" "g.55542247T>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.3101A>T, p.(His1034Leu), c.5805T>G, p.(Phe1935Leu)" "" "Germline" "?" "" "0" "" "" "g.54629687T>G" "" "VUS" "ACMG" "0000798073" "0" "50" "8" "55539543" "55539543" "subst" "0.000146288" "00000" "RP1_000374" "g.55539543A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.3101A>T, p.(His1034Leu), c.5805T>G, p.(Phe1935Leu)" "" "Germline" "?" "" "0" "" "" "g.54626983A>T" "" "VUS" "ACMG" "0000798074" "0" "70" "8" "55537272" "55537273" "del" "0" "00000" "RP1_000367" "g.55537272_55537273del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.830_831del, p.(Ser277Cysfs*4)" "" "Germline" "?" "" "0" "" "" "g.54624712_54624713del" "" "likely pathogenic" "ACMG" "0000803674" "0" "10" "8" "55537327" "55537327" "subst" "0.000934845" "02330" "RP1_000378" "g.55537327T>C" "" "" "" "RP1(NM_006269.2):c.885T>C (p.V295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803675" "0" "30" "8" "55537914" "55537914" "subst" "9.75094E-5" "01943" "RP1_000379" "g.55537914G>A" "" "" "" "RP1(NM_006269.1):c.1472G>A (p.S491N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803676" "0" "30" "8" "55539523" "55539523" "subst" "0" "01943" "RP1_000380" "g.55539523A>G" "" "" "" "RP1(NM_006269.1):c.3081A>G (p.S1027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803677" "0" "30" "8" "55540402" "55540402" "subst" "0" "02330" "RP1_000381" "g.55540402C>T" "" "" "" "RP1(NM_006269.2):c.3960C>T (p.N1320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803678" "0" "10" "8" "55541007" "55541007" "subst" "0.00118571" "02330" "RP1_000146" "g.55541007G>A" "" "" "" "RP1(NM_006269.1):c.4565G>A (p.G1522D), RP1(NM_006269.2):c.4565G>A (p.G1522D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803679" "0" "50" "8" "55541222" "55541222" "subst" "4.06511E-6" "01943" "RP1_000221" "g.55541222T>C" "" "" "" "RP1(NM_006269.1):c.4780T>C (p.Y1594H), RP1(NM_006269.2):c.4780T>C (p.Y1594H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803680" "0" "10" "8" "55541450" "55541450" "subst" "0.258505" "02330" "RP1_000088" "g.55541450G>A" "" "" "" "RP1(NM_006269.2):c.5008G>A (p.A1670T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803681" "0" "90" "8" "55542188" "55542188" "subst" "0" "01943" "RP1_000225" "g.55542188C>T" "" "" "" "RP1(NM_006269.1):c.5746C>T (p.Q1916*), RP1(NM_006269.2):c.5746C>T (p.Q1916*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000811481" "0" "90" "8" "55537897" "55537897" "subst" "0" "00000" "RP1_000252" "g.55537897T>G" "" "{PMID:Kim 2019:31496144}" "" "RP1 c.1455T>G, p.Y485X" "" "Germline" "?" "" "0" "" "" "g.54625337T>G" "" "pathogenic" "ACMG" "0000811517" "0" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Kim 2019:31496144}" "" "RP1 c.4196delG, p.C1399Lfs" "" "Germline" "?" "" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000811749" "0" "50" "4" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.368_369dup, p.Pro124Alafs*20" "unsolved" "Germline" "?" "" "0" "" "" "g.54621334_54621335dup" "" "VUS" "" "0000811906" "0" "70" "8" "55533836" "55533836" "subst" "0" "00000" "RP1_000384" "g.55533836T>C" "" "{PMID:Hariri 2018:31047384}" "" "c.310T/C and c.1047G/A(alleles in trans)" "" "Germline" "?" "" "0" "" "" "g.54621276T>C" "" "likely pathogenic" "" "0000811907" "0" "70" "8" "55537489" "55537489" "subst" "0" "00000" "RP1_000164" "g.55537489G>A" "" "{PMID:Hariri 2018:31047384}" "" "c.310T/C and c.1047G/A(alleles in trans)" "" "Germline" "?" "" "0" "" "" "g.54624929G>A" "" "likely pathogenic" "" "0000811908" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Hariri 2018:31047384}" "" "p.Asp202Glu:c.606C/A in RP1(homozygous); p.Gly2017Val:c.6050G/T(homozygous) in EYS" "" "Germline" "?" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000811910" "0" "70" "8" "55538636" "55538636" "subst" "0" "00000" "RP1_000280" "g.55538636C>T" "" "{PMID:Hariri 2018:31047384}" "" "p.Q732X:c.2194C/T (heterozygous)" "" "Germline" "?" "" "0" "" "" "g.54626076C>T" "" "likely pathogenic" "" "0000812030" "0" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*), USH2A: p.(Cys3267Arg) Ex.50 c.9799T>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000812036" "0" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*), USH2A: p.(Cys759Phe) Ex.13 c.2276G>T" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000812082" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000812099" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000812134" "3" "70" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.3157del p.(Tyr1053Thrfs*4), Ex.4 c.3157del p.(Tyr1053Thrfs*4)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627039del" "" "likely pathogenic" "" "0000812153" "0" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.2 c.149_168delinsAGACCCCCAATT p.(Gly50Glufs*9)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000812154" "0" "70" "8" "55533675" "55533694" "delins" "0" "00000" "RP1_000382" "g.55533675_55533694delinsAGACCCCCAATT" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.2 c.149_168delinsAGACCCCCAATT p.(Gly50Glufs*9)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54621115_54621134delinsAGACCCCCAATT" "" "likely pathogenic" "" "0000812166" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000812224" "0" "70" "8" "55537676" "55537676" "dup" "0" "00000" "RP1_000385" "g.55537676dup" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1234dup p.(Met412Asnfs*7), Ex.4 c.1510T>C p.(Ser504Pro)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625116dup" "" "likely pathogenic" "" "0000812225" "0" "70" "8" "55537952" "55537952" "subst" "4.06435E-5" "00000" "RP1_000386" "g.55537952T>C" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1234dup p.(Met412Asnfs*7), Ex.4 c.1510T>C p.(Ser504Pro)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625392T>C" "" "likely pathogenic" "" "0000812230" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.1625C>G p.(Ser542*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000812288" "3" "70" "8" "55541024" "55541027" "del" "0" "00000" "RP1_000323" "g.55541024_55541027del" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.4582_4585del p.(Ile1528Valfs*10), Ex.4 c.4582_4585del p.(Ile1528Valfs*10)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54628464_54628467del" "" "likely pathogenic" "" "0000812291" "3" "70" "8" "55533619" "55533631" "delins" "0" "00000" "RP1_000131" "g.55533619_55533631delinsAAA" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.2 c.93_105delinsAAA p.(His31Glnfs*47), Ex.2 c.93_105delinsAAA p.(His31Glnfs*47), FAM161A: Ex.2 c.357del p.(Asp119Glufs*5)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621059_54621071delinsAAA" "" "likely pathogenic" "" "0000812297" "0" "70" "8" "55537628" "55537628" "subst" "3.25185E-5" "00000" "RP1_000257" "g.55537628C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.23 c.3386G>T p.(Arg1129Leu), Ex.23 c.3386G>T p.(Arg1129Leu), RP1: Ex.4 c.1186C>T p.(Arg396*)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625068C>T" "" "likely pathogenic" "" "0000812302" "0" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.2816del p.(Arg939Lysfs*7)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000812303" "0" "70" "8" "55539258" "55539258" "del" "0" "00000" "RP1_000388" "g.55539258del" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.1625C>G p.(Ser542*), Ex.4 c.2816del p.(Arg939Lysfs*7)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54626698del" "" "likely pathogenic" "" "0000812389" "3" "70" "8" "55541615" "55541615" "subst" "0" "00000" "RP1_000360" "g.55541615C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.5173C>T p.(Gln1725*), Ex.4 c.5173C>T p.(Gln1725*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54629055C>T" "" "likely pathogenic" "" "0000812414" "3" "70" "8" "55542169" "55542169" "dup" "0" "00000" "RP1_000392" "g.55542169dup" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.5727dup p.(Leu1910Thrfs*21), Ex.4 c.5727dup p.(Leu1910Thrfs*21)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54629609dup" "" "likely pathogenic" "" "0000812416" "3" "70" "8" "55538484" "55538484" "delins" "0" "00000" "RP1_000387" "g.55538484delinsAA" "" "{PMID:Martin Merida 2019:30902645}" "" "RP1 Ex.4 c.2042delinsAA p.(Ile681Lysfs*17), Ex.4 c.2042delinsAA p.(Ile681Lysfs*17)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625924delinsAA" "" "likely pathogenic" "" "0000812470" "3" "70" "8" "55539191" "55539191" "subst" "0" "00000" "RP1_000299" "g.55539191C>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.2749C>T, p.(Gln917*)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.54626631C>T" "" "likely pathogenic" "" "0000812486" "0" "70" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Tayebi 2019:30820146}" "" "c.1498_1499del, p.(Met500Valfs*7)" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54625380_54625381del" "" "likely pathogenic" "" "0000812487" "0" "70" "8" "55540547" "55540547" "subst" "4.06696E-6" "00000" "RP1_000142" "g.55540547C>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.4105C>T, p.(Gln1369*)" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54627987C>T" "" "likely pathogenic" "" "0000812536" "0" "90" "8" "55540748" "55540748" "del" "0" "00000" "RP1_000390" "g.55540748del" "" "{PMID:Wang 2019:31106028}" "" "c.4306del, p.(Ser1436Profs*16)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.54628188del" "" "pathogenic" "" "0000812537" "0" "70" "8" "55538558" "55538558" "subst" "0.000325362" "00000" "RP1_000009" "g.55538558G>C" "" "{PMID:Wang 2019:31106028}" "" "c.2116G>C, p.(Gly706Arg)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.54625998G>C" "" "likely pathogenic" "" "0000812559" "0" "70" "8" "55541132" "55541132" "del" "0" "00000" "RP1_000391" "g.55541132del" "" "{PMID:Wang 2019:31106028}" "" "c.4689del, p.(Val1564*)" "heterozygous" "Germline" "?" "" "0" "" "" "g.54628572del" "" "likely pathogenic" "" "0000812631" "3" "70" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Wang 2019:31106028}" "" "c.5797C>T, p.(Arg1933*)" "Homozygous" "Germline" "?" "" "0" "" "" "g.54629679C>T" "" "likely pathogenic" "" "0000812839" "0" "70" "8" "55541246" "55541246" "subst" "1.22034E-5" "00000" "RP1_000350" "g.55541246C>T" "" "{PMID:Wang 2019:31106028}" "" "c.4804C>T, p.(Gln1602*)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.54628686C>T" "" "likely pathogenic" "" "0000812840" "0" "90" "8" "55533779" "55533779" "dup" "0" "00000" "RP1_000383" "g.55533779dup" "" "{PMID:Wang 2019:31106028}" "" "c.253dup, p.(Arg87Serfs*48)" "error in annotation: c.253dup causes p.(Thr85Asnfs*50), p.(Arg87Serfs*48) would be caused by c.254dup, compound heterozygous" "Germline" "?" "" "0" "" "" "g.54621219dup" "" "pathogenic" "" "0000812937" "3" "70" "8" "55539986" "55539987" "ins" "0" "00000" "RP1_000389" "g.55539986_55539987insAGAAAAGCTG" "" "{PMID:Albarry 2019:31833436}" "" "RP1 c.3544_3545insAGAAAAGCTG; p.Ala1182fs" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627426_54627427insAGAAAAGCTG" "" "likely pathogenic" "" "0000812938" "3" "70" "8" "55539986" "55539987" "ins" "0" "00000" "RP1_000389" "g.55539986_55539987insAGAAAAGCTG" "" "{PMID:Albarry 2019:31833436}" "" "RP1 c.3544_3545insAGAAAAGCTG; p.Ala1182fs" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627426_54627427insAGAAAAGCTG" "" "likely pathogenic" "" "0000813686" "1" "90" "8" "55537228" "55537232" "del" "0" "00000" "RP1_000393" "g.55537228_55537232del" "" "{PMID:Xu 2020:31630094}" "" "RP1 NM_006269: g.8602_8606delAGTAA, c.788-2_790delAGTAA" "" "Germline" "yes" "" "0" "" "" "g.54624668_54624672del" "" "pathogenic" "ACMG" "0000813766" "2" "90" "8" "55540812" "55540812" "subst" "0" "00000" "RP1_000394" "g.55540812C>G" "" "{PMID:Xu 2020:31630094}" "" "RP1 NM_006269: g.12186C>G, c.4370C>G, p.S1457X" "" "Germline" "yes" "" "0" "" "" "g.54628252C>G" "" "pathogenic" "ACMG" "0000814282" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Chen 2020:31872526}" "" "RP1:NM_006269:exon4:c.2608dupA:p.Q869fs" "error in annotation: NM_006269.1:c.2608dupA normalised to NM_006269.1:c.2613dupA; heterozygous" "Germline" "?" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000814788" "1" "70" "8" "55541347" "55541348" "del" "0" "00000" "RP1_000395" "g.55541347_55541348del" "" "{PMID:Dan 2020:31960602}" "" "RP1 c.4905_4906del, p.(Tyr1636Argfs*2)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628787_54628788del" "" "likely pathogenic" "ACMG" "0000814818" "2" "90" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Dan 2020:31960602}" "" "RP1 c.6181del, p.(Ile2061Serfs*12)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54630063del" "" "pathogenic" "ACMG" "0000815452" "0" "50" "8" "55539482" "55539482" "subst" "3.66062E-5" "00000" "RP1_000234" "g.55539482G>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1:NM_006269 c.G3040C, p.D1014H" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.54626922G>C" "" "VUS" "ACMG" "0000815453" "0" "50" "8" "55540778" "55540778" "subst" "0" "00000" "RP1_000396" "g.55540778G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1:NM_006269 c.G4336A, p.E1446K" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.54628218G>A" "" "VUS" "ACMG" "0000815610" "0" "50" "8" "55542638" "55542638" "subst" "0.000500338" "00000" "RP1_000023" "g.55542638G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RP1:NM_006269 c.G6196A, p.D2066N" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.54630078G>A" "" "VUS" "ACMG" "0000815937" "0" "70" "8" "55538585" "55538585" "subst" "0" "00000" "RP1_000406" "g.55538585C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RP1 c.2143C>T, p.Gln715Ter" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626025C>T" "" "likely pathogenic" "" "0000815939" "0" "70" "8" "55539395" "55539396" "ins" "0" "00000" "RP1_000408" "g.55539395_55539396insTCTCC" "" "{PMID:Zampaglione 2020:32037395}" "" "RP1 c.2953_2954insTCTCC, p.Asn985IlefsTer30" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626835_54626836insTCTCC" "" "likely pathogenic" "" "0000816108" "0" "70" "8" "55537997" "55537997" "subst" "0" "00000" "RP1_000404" "g.55537997C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RP1 c.1555C>T, p.Gln519Ter" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54625437C>T" "" "likely pathogenic" "" "0000816135" "0" "70" "8" "55540232" "55540233" "del" "0" "00000" "RP1_000410" "g.55540232_55540233del" "" "{PMID:Zampaglione 2020:32037395}" "" "RP1 c.3790_3791del, p.Val1264LysfsTer2" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54627672_54627673del" "" "likely pathogenic" "" "0000816151" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "RP1 c.606C>A, p.Asp202Glu" "homozygous" "Unknown" "?" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000816190" "0" "50" "8" "55538738" "55538738" "subst" "0" "00000" "RP1_000308" "g.55538738C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RP1 c.2296C>T, p.Gln766Ter" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626178C>T" "" "VUS" "" "0000816231" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RP1 c.2029C>T, p.Arg677Ter" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000816245" "0" "50" "8" "55537910" "55537910" "subst" "2.84396E-5" "00000" "RP1_000402" "g.55537910G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RP1 c.1468G>T, p.Glu490Ter" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54625350G>T" "" "VUS" "" "0000816298" "0" "50" "8" "55539396" "55539396" "subst" "0" "00000" "RP1_000409" "g.55539396A>C" "" "{PMID:Zampaglione 2020:32037395}" "" "c.2954A>C, p.Asn985Thr" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626836A>C" "" "VUS" "" "0000816429" "0" "70" "8" "55538161" "55538165" "del" "0" "00000" "RP1_000253" "g.55538161_55538165del" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1719_1723del, p.Ser574CysfsTer7" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.54625601_54625605del" "" "likely pathogenic" "" "0000816448" "3" "70" "8" "55540232" "55540233" "del" "0" "00000" "RP1_000410" "g.55540232_55540233del" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3790_3791del, p.Val1264LysfsTer2" "Located at end of transcript, homozygous" "Unknown" "?" "" "0" "" "" "g.54627672_54627673del" "" "likely pathogenic" "" "0000816459" "0" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.606C>A, p.Asp202Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000816530" "0" "70" "8" "55534729" "55534729" "del" "0" "00000" "RP1_000276" "g.55534729del" "" "{PMID:Zampaglione 2020:32037395}" "" "c.668del, p.Gly223GlufsTer41" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54622169del" "" "likely pathogenic" "" "0000816703" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.2285_2289del, p.L762YfsX17" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000816704" "0" "70" "8" "55538547" "55538550" "del" "0" "00000" "RP1_000405" "g.55538547_55538550del" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.2105_2108del, p.I702TfsX10" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625987_54625990del" "" "likely pathogenic" "" "0000816705" "0" "70" "8" "55541459" "55541459" "del" "0" "00000" "RP1_000411" "g.55541459del" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.5017delT, p.Y1673MfsX37" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54628899del" "" "likely pathogenic" "" "0000816706" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.2285_2289del, p.L762YfsX17" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000816707" "0" "70" "8" "55538921" "55538921" "subst" "1.22252E-5" "00000" "RP1_000407" "g.55538921G>C" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.2479G>C, p.E827Q" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626361G>C" "" "likely pathogenic" "" "0000816708" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.2029C>T, p.R677*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625911C>T" "" "likely pathogenic" "" "0000816709" "0" "70" "8" "55538547" "55538550" "del" "0" "00000" "RP1_000405" "g.55538547_55538550del" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.2105_2108del, p.I702TfsX10" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625987_54625990del" "" "likely pathogenic" "" "0000816710" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.2285_2289del, p.L762YfsX17" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000816711" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.2285_2289del, p.L762YfsX17" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic" "" "0000816712" "0" "70" "8" "55537879" "55537879" "subst" "4.06345E-5" "00000" "RP1_000072" "g.55537879G>T" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.1437G>T, p.M479I" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625319G>T" "" "likely pathogenic" "" "0000816713" "0" "70" "8" "55537676" "55537676" "dup" "0" "00000" "RP1_000385" "g.55537676dup" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.1234dupA, p.M412NfsX7" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625116dup" "" "likely pathogenic" "" "0000816714" "0" "70" "8" "55542066" "55542066" "subst" "0.00101606" "00000" "RP1_000151" "g.55542066G>C" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.5624G>C, p.G1875A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54629506G>C" "" "likely pathogenic" "" "0000816761" "3" "70" "8" "55537952" "55537952" "subst" "3.25148E-5" "00000" "RP1_000403" "g.55537952T>G" "" "{PMID:Jauregui 2020:32098976}" "" "RP1 c.1510T>G, p.S504A" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625392T>G" "" "likely pathogenic" "" "0000817317" "0" "70" "8" "54626772" "54626772" "del" "0" "00000" "RP1_000399" "g.54626772del" "" "{PMID:Sun 2020:32100970}" "" "RP1 c.2886delA, p.Gly962GlyfsX3, heterozygous" "error in annotation: c.2886delA causes p.(Ile964Ter), and not p.(Gly962GlyfsTer3)" "Unknown" "?" "" "0" "" "" "g.54626772del" "" "likely pathogenic" "ACMG" "0000817318" "0" "70" "8" "54628050" "54628051" "ins" "0" "00000" "RP1_000290" "g.54628050_54628051insT" "" "{PMID:Sun 2020:32100970}" "" "RP1 c.4168_4169insT, p.His1390Serfs6, heterozygous" "error in annotation: c.4168_4169insT causes p.(His1390LeufsTer6), and not p.(His1390Serfs6)" "Unknown" "?" "" "0" "" "" "g.54628050_54628051insT" "" "likely pathogenic" "ACMG" "0000817329" "0" "70" "8" "54625301" "54625302" "del" "0" "00000" "RP1_000398" "g.54625301_54625302del" "" "{PMID:Sun 2020:32100970}" "" "RP1 c.1419_1420delTG, p.Thr473Thrfs13, heterozygous" "error in annotation: c.1419_1420delTG causes p.(Glu474GlyfsTer12), and not p.(Thr473Thrfs13)" "Unknown" "?" "" "0" "" "" "g.54625301_54625302del" "" "likely pathogenic" "ACMG" "0000817339" "0" "70" "8" "54628011" "54628011" "del" "0" "00000" "RP1_000400" "g.54628011del" "" "{PMID:Sun 2020:32100970}" "" "RP1 c.4129delG, p.Asp1377ThrfsX20, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.54628011del" "" "likely pathogenic" "ACMG" "0000817340" "0" "50" "8" "54628051" "54628051" "subst" "0" "00000" "RP1_000401" "g.54628051A>G" "" "{PMID:Sun 2020:32100970}" "" "RP1 c.4169A > G, p.His1390Arg, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.54628051A>G" "" "VUS" "ACMG" "0000817341" "0" "90" "8" "54628078" "54628078" "del" "0" "00000" "RP1_000397" "g.54628078del" "" "{PMID:Sun 2020:32100970}" "" "RP1 c.4196delG, p.Cys1399Leufs5, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000817342" "0" "90" "8" "54630235" "54630235" "subst" "0" "00000" "RP1_000203" "g.54630235G>A" "" "{PMID:Sun 2020:32100970}" "" "RP1 c.6353G > A, p.Ser2118Asn, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.54630235G>A" "" "pathogenic" "ACMG" "0000817637" "1" "70" "8" "55538540" "55538540" "subst" "0" "00000" "RP1_000038" "g.55538540G>T" "" "{PMID:Zanolli 2020:32141364}" "" "RP1 c.2098G>T ; c.2953A>T" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.54625980G>T" "" "likely pathogenic" "" "0000817638" "2" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Zanolli 2020:32141364}" "" "RP1 c.2098G>T ; c.2953A>T" "no protein change given, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic" "" "0000818220" "3" "90" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.2953A>T" "" "Germline" "" "rs2293869" "0" "" "" "" "" "likely pathogenic" "" "0000818221" "3" "90" "8" "55542540" "55542540" "subst" "0.337314" "00000" "RP1_000104" "g.55542540G>A" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.6098G>A" "" "Germline" "" "rs61739567" "0" "" "" "" "" "likely pathogenic" "" "0000818222" "3" "90" "8" "55539065" "55539065" "subst" "3.2546E-5" "00000" "RP1_000412" "g.55539065G>A" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.2623G>A" "" "Germline" "" "rs444772" "0" "" "" "" "" "likely pathogenic" "" "0000818223" "3" "90" "8" "55541450" "55541450" "subst" "0.258505" "00000" "RP1_000088" "g.55541450G>A" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.5008G>A" "" "Germline" "" "rs446227" "0" "" "" "" "" "likely pathogenic" "" "0000818224" "3" "90" "8" "55541513" "55541513" "subst" "0.276351" "00000" "RP1_000089" "g.55541513T>C" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.5071T>C" "" "Germline" "" "rs414352" "0" "" "" "" "" "likely pathogenic" "" "0000818225" "3" "90" "8" "55541617" "55541617" "subst" "0.256953" "00000" "RP1_000129" "g.55541617A>G" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.5175A>G" "" "Germline" "" "rs441800" "0" "" "" "" "" "likely pathogenic" "" "0000818227" "0" "90" "8" "55539065" "55539065" "subst" "3.2546E-5" "00000" "RP1_000412" "g.55539065G>A" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.2623G>A" "" "Germline" "" "rs444772" "0" "" "" "" "" "likely pathogenic" "" "0000818228" "0" "90" "8" "55541450" "55541450" "subst" "0.258505" "00000" "RP1_000088" "g.55541450G>A" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.5008G>A" "" "Germline" "" "rs446227" "0" "" "" "" "" "likely pathogenic" "" "0000818229" "0" "90" "8" "55541513" "55541513" "subst" "0.276351" "00000" "RP1_000089" "g.55541513T>C" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.5071T>C" "" "Germline" "" "rs414352" "0" "" "" "" "" "likely pathogenic" "" "0000818230" "0" "90" "8" "55541617" "55541617" "subst" "0.256953" "00000" "RP1_000129" "g.55541617A>G" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.5175A>G" "" "Germline" "" "rs441800" "0" "" "" "" "" "likely pathogenic" "" "0000818231" "0" "90" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.2953A>T" "" "Germline" "" "rs2293869" "0" "" "" "" "" "likely pathogenic" "" "0000818232" "0" "90" "8" "55542540" "55542540" "subst" "0.337314" "00000" "RP1_000104" "g.55542540G>A" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.6098G>A" "" "Germline" "" "rs61739567" "0" "" "" "" "" "likely pathogenic" "" "0000818609" "3" "70" "8" "55540660" "55540663" "del" "0" "00000" "RP1_000413" "g.55540660_55540663del" "" "{PMID:Nadeem 2020:32411380}" "" "c.delAGAA4218_4221 in RP1" "homozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.54628100_54628103del" "" "likely pathogenic" "" "0000818610" "3" "70" "8" "55540660" "55540663" "del" "0" "00000" "RP1_000413" "g.55540660_55540663del" "" "{PMID:Nadeem 2020:32411380}" "" "c.delAGAA4218_4221 in RP1" "homozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.54628100_54628103del" "" "likely pathogenic" "" "0000818611" "3" "70" "8" "55540660" "55540663" "del" "0" "00000" "RP1_000413" "g.55540660_55540663del" "" "{PMID:Nadeem 2020:32411380}" "" "c.delAGAA4218_4221 in RP1" "homozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.54628100_54628103del" "" "likely pathogenic" "" "0000818612" "3" "70" "8" "55540660" "55540663" "del" "0" "00000" "RP1_000413" "g.55540660_55540663del" "" "{PMID:Nadeem 2020:32411380}" "" "c.delAGAA4218_4221 in RP1" "homozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.54628100_54628103del" "" "likely pathogenic" "" "0000819044" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Dineiro 2020:32483926}" "" "RP1 c.1625C>G, p.(Ser542*)" "homozygous" "Germline" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "ACMG" "0000819064" "0" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Dineiro 2020:32483926}" "" "RP1 c.1625C>G, p.(Ser542*)" "heterozygous" "Germline" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "ACMG" "0000819087" "0" "70" "8" "55533753" "55533753" "subst" "0" "00000" "RP1_000345" "g.55533753T>C" "" "{PMID:Dineiro 2020:32483926}" "" "RP1 c.227T>C, p.(Leu76Pro)" "heterozygous" "Germline" "?" "" "0" "" "" "g.54621193T>C" "" "likely pathogenic" "ACMG" "0000819436" "1" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2613dup/p.R872Tfs*2" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000819437" "1" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2613dup/p.R872Tfs*2" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000819453" "1" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.1625C>G/p.S542*, variant 2: c.1625C>G/p.S542*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic" "" "0000819893" "1" "70" "8" "55534142" "55534142" "subst" "0" "00000" "RP1_000416" "g.55534142G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.615+1G>A/p.?, variant 2: c.615+1G>A/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.54621582G>A" "" "likely pathogenic" "" "0000819964" "1" "70" "8" "55538771" "55538771" "dup" "0" "00000" "RP1_000305" "g.55538771dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2329dupA/p.R777Kfs*4" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626211dup" "" "likely pathogenic" "" "0000819965" "1" "70" "8" "55538771" "55538771" "dup" "0" "00000" "RP1_000305" "g.55538771dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2329dupA/p.R777Kfs*4" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626211dup" "" "likely pathogenic" "" "0000819966" "1" "70" "8" "55538771" "55538771" "dup" "0" "00000" "RP1_000305" "g.55538771dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2329dupA/p.R777Kfs*4" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626211dup" "" "likely pathogenic" "" "0000819967" "1" "70" "8" "55538771" "55538771" "dup" "0" "00000" "RP1_000305" "g.55538771dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2329dupA/p.R777Kfs*4" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626211dup" "" "likely pathogenic" "" "0000820173" "1" "70" "8" "55538774" "55538774" "subst" "0" "00000" "RP1_000056" "g.55538774A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2332A>T/p.K778*" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626214A>T" "" "likely pathogenic" "" "0000820174" "1" "70" "8" "55538774" "55538774" "subst" "0" "00000" "RP1_000056" "g.55538774A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2332A>T/p.K778*" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626214A>T" "" "likely pathogenic" "" "0000820175" "1" "70" "8" "55538774" "55538774" "subst" "0" "00000" "RP1_000056" "g.55538774A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2332A>T/p.K778*" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.54626214A>T" "" "likely pathogenic" "" "0000820245" "1" "70" "8" "55538603" "55538603" "del" "0" "00000" "RP1_000304" "g.55538603del" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2161del/p.G723Efs*15" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626043del" "" "likely pathogenic" "" "0000820264" "1" "70" "8" "55539142" "55539142" "dup" "0" "00000" "RP1_000422" "g.55539142dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2700dup/p.P901Tfs*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626582dup" "" "likely pathogenic" "" "0000820280" "1" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1 : c.2613dup/p.R872Tfs*2" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000820297" "1" "70" "8" "55540660" "55540663" "del" "0" "00000" "RP1_000413" "g.55540660_55540663del" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.4218_4221del/p.E1407Qfs*10, variant 2: c.4218_4221del/p.E1407Qfs*10" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.54628100_54628103del" "" "likely pathogenic" "" "0000820342" "1" "70" "8" "55540132" "55540132" "del" "0" "00000" "RP1_000423" "g.55540132del" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.3690del/p.G1231Efs*24, variant 2: c.3690del/p.G1231Efs*24" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.54627572del" "" "likely pathogenic" "" "0000820376" "1" "70" "8" "55539031" "55539032" "del" "0" "00000" "RP1_000421" "g.55539031_55539032del" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2589_2590del/p.I864Nfs*9" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626471_54626472del" "" "likely pathogenic" "" "0000820428" "1" "70" "8" "55538603" "55538603" "del" "0" "00000" "RP1_000304" "g.55538603del" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2161del/p.G723Efs*15" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626043del" "" "likely pathogenic" "" "0000820490" "1" "70" "8" "55538550" "55538550" "del" "0" "00000" "RP1_000418" "g.55538550del" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2108del/p.N703Tfs*10" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.54625990del" "" "likely pathogenic" "" "0000820491" "1" "70" "8" "55538555" "55538555" "subst" "0" "00000" "RP1_000419" "g.55538555A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2113A>T/p.K705*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.54625995A>T" "" "likely pathogenic" "" "0000820525" "1" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.2613dup/p.R872Tfs*2" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000820577" "1" "70" "8" "55537228" "55537228" "subst" "0" "00000" "RP1_000366" "g.55537228A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.788-2A>T/p.?, variant 2: c.188T>C/p.F63S" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.54624668A>T" "" "likely pathogenic" "" "0000820984" "1" "70" "8" "55533714" "55533714" "subst" "0" "00000" "RP1_000415" "g.55533714T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "RP1, variant 1: c.788-2A>T/p.?, variant 2: c.188T>C/p.F63S" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.54621154T>C" "" "likely pathogenic" "" "0000821022" "0" "70" "8" "55533782" "55533782" "subst" "7.31119E-5" "00000" "RP1_000154" "g.55533782C>A" "1/64" "{PMID:Liu 2020:32562694}" "" "RP1 c.256C>A, p.Pro86Thr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621222C>A" "" "likely pathogenic" "" "0000821362" "0" "70" "8" "55538525" "55538525" "del" "0" "00000" "RP1_000417" "g.55538525del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2083delA, p.Ile695PhefsTer8" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625965del" "" "likely pathogenic" "" "0000821363" "0" "90" "8" "55538498" "55538498" "subst" "0" "00000" "RP1_000027" "g.55538498C>T" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2056C>T, p.Gln686Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625938C>T" "" "pathogenic" "" "0000821364" "0" "90" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2613dupA, p.Arg872ThrfsTer2" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54626495dup" "" "pathogenic" "" "0000821365" "0" "70" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.1498_1499delAT, p.Met500ValfsTer7" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625380_54625381del" "" "likely pathogenic" "" "0000821366" "3" "90" "8" "55540285" "55540285" "del" "0" "00000" "RP1_000141" "g.55540285del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.3843delT, p.Pro1282LeufsTer12" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627725del" "" "pathogenic" "" "0000821367" "0" "90" "8" "55538614" "55538627" "del" "0" "00000" "RP1_000045" "g.55538614_55538627del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2172_2185delGATACTTTGTGAGG, p.Ile725ArgfsTer6" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54626054_54626067del" "" "pathogenic" "" "0000821368" "0" "70" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2219C>G, p.Ser740Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54626101C>G" "" "likely pathogenic" "" "0000821369" "0" "70" "8" "55539038" "55539039" "del" "0" "00000" "RP1_000372" "g.55539038_55539039del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2596_2597delTT, p.Leu866LysfsTer7" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54626478_54626479del" "" "likely pathogenic" "" "0000821370" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2029C>T, p.Arg677Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625911C>T" "" "likely pathogenic" "" "0000821371" "0" "90" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2285_2289delTAAAT, p.Leu762TyrfsTer17" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54626167_54626171del" "" "pathogenic" "" "0000821372" "0" "70" "8" "55538474" "55538474" "subst" "4.07037E-6" "00000" "RP1_000173" "g.55538474C>T" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2032C>T, p.Gln678Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625914C>T" "" "likely pathogenic" "" "0000821373" "0" "70" "8" "55539098" "55539098" "subst" "0" "00000" "RP1_000268" "g.55539098C>T" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2656C>T, p.Gln886Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54626538C>T" "" "likely pathogenic" "" "0000821374" "0" "90" "8" "55540285" "55540285" "del" "0" "00000" "RP1_000141" "g.55540285del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.3843delT, p.Pro1282LeufsTer12" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627725del" "" "pathogenic" "" "0000821375" "0" "70" "8" "55538763" "55538763" "del" "0" "00000" "RP1_000420" "g.55538763del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.2321delT, p.Leu774Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54626203del" "" "likely pathogenic" "" "0000821466" "3" "70" "8" "55532080" "55543196" "del" "0" "00000" "RP1_000000" "g.55532080_55543196del" "" "{PMID:Turro 2020:32581362}" "" "chr8:g.55532080_55543196del" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000821598" "0" "70" "8" "55534671" "55534671" "subst" "0.00511348" "00000" "RP1_000082" "g.55534671T>C" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.616-6T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54622111T>C" "" "likely pathogenic" "" "0000821599" "0" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.515T>G, p.Leu172Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "" "0000821600" "0" "70" "8" "55542325" "55542325" "del" "0" "00000" "RP1_000270" "g.55542325del" "" "{PMID:Turro 2020:32581362}" "" "RP1 c.5883delG, p.Thr1962GlnfsTer15" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54629765del" "" "likely pathogenic" "" "0000822121" "0" "70" "8" "55537560" "55537560" "subst" "0.0126036" "00000" "RP1_000004" "g.55537560C>T" "" "{PMID:Booij-2011:20801516}" "" "c.1118C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822122" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Booij-2011:20801516}" "" "c.2953A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822295" "1" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Maggi_2021:33546218}" "" "c.2613dup" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822371" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Maggi_2021:33546218}" "" "c.2613dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822380" "1" "70" "8" "55532084" "55543199" "del" "0" "00000" "RP1_000414" "g.55532084_55543199del" "" "{PMID:Maggi_2021:33546218}" "" "c.-12-1431_*286del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822381" "1" "70" "8" "55532084" "55543199" "del" "0" "00000" "RP1_000414" "g.55532084_55543199del" "" "{PMID:Maggi_2021:33546218}" "" "c.-12-1431_*286del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822767" "0" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Tyr1352Alafs*9)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822779" "0" "70" "8" "55538423" "55538423" "subst" "0" "00000" "RP1_000172" "g.55538423G>T" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Glu661*)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); heterozygous" "Unknown" "?" "" "0" "" "" "g.54625863G>T" "" "likely pathogenic" "" "0000822789" "3" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Tyr1352Alafs*9)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822792" "3" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Tyr1352Alafs*9)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822793" "3" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Tyr1352Alafs*9)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822794" "0" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Tyr1352Alafs*9)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822795" "3" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Tyr1352Alafs*9)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822796" "0" "70" "8" "0" "0" "" "0" "00000" "RP1_000000" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Tyr1352Alafs*9)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822798" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Arg872fs)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; heterozygous" "Unknown" "?" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000822800" "3" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Cys1399Leufs*5)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; homozygous" "Unknown" "?" "" "0" "" "" "g.54628078del" "" "likely pathogenic" "" "0000822803" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Arg872fs)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; heterozygous" "Unknown" "?" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000822811" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Arg872fs)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; heterozygous" "Unknown" "?" "" "0" "" "" "g.54626495dup" "" "likely pathogenic" "" "0000822825" "0" "70" "8" "55538507" "55538507" "subst" "0" "00000" "RP1_000029" "g.55538507C>T" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Gln689*)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous" "Unknown" "?" "" "0" "" "" "g.54625947C>T" "" "likely pathogenic" "" "0000822832" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Cys1399Leufs*5)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.54628078del" "" "likely pathogenic" "" "0000822846" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Cys1399Leufs*5)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.54628078del" "" "likely pathogenic" "" "0000822847" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Koyanagi 2020:32749464}" "" "RP1 p.(Cys1399Leufs*5)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous" "Unknown" "?" "" "0" "" "" "g.54628078del" "" "likely pathogenic" "" "0000822936" "3" "70" "8" "55537904" "55537904" "del" "0" "00000" "RP1_000297" "g.55537904del" "" "{PMID:Méjécase 2020:32783370}" "" "RP1 c.1462del p.(Glu488Lysfs *44)" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625344del" "" "likely pathogenic" "" "0000822937" "0" "70" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Méjécase 2020:32783370}" "" "RP1 c.2219C>G p.(Ser740*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626101C>G" "" "likely pathogenic" "" "0000822938" "0" "70" "8" "55537489" "55537489" "subst" "0" "00000" "RP1_000164" "g.55537489G>A" "" "{PMID:Méjécase 2020:32783370}" "" "RP1 c.1047G>A p.(Trp349*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54624929G>A" "" "likely pathogenic" "" "0000822975" "0" "70" "8" "55533836" "55533836" "subst" "0" "00000" "RP1_000384" "g.55533836T>C" "" "{PMID:Méjécase 2020:32783370}" "" "RP1 c.310T>C p.(Tyr104His)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54621276T>C" "" "likely pathogenic" "" "0000824129" "0" "90" "8" "55538483" "55538483" "dup" "0" "00000" "RP1_000424" "g.55538483dup" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "RP1 c.2041dup, p.(Ile681Asnfs*17)" "" "Germline" "yes" "" "0" "" "" "g.54625923dup" "" "pathogenic" "ACMG" "0000824167" "0" "90" "8" "55538483" "55538483" "dup" "0" "00000" "RP1_000424" "g.55538483dup" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "RP1 c.2041dup, p.(Ile681Asnfs*17)" "" "Germline" "yes" "" "0" "" "" "g.54625923dup" "" "pathogenic" "ACMG" "0000824347" "0" "90" "8" "55538775" "55538776" "dup" "0" "00000" "RP1_000426" "g.55538775_55538776dup" "" "{PMID:Xiao-2021:33598457}" "" "RP1 c.2330_2331insAA, p.(S779Nfs*5)" "" "Unknown" "yes" "" "0" "" "" "g.54626215_54626216dup" "" "pathogenic" "ACMG" "0000824348" "0" "90" "8" "55538822" "55538822" "subst" "0" "00000" "RP1_000427" "g.55538822G>T" "" "{PMID:Xiao-2021:33598457}" "" "RP1 c.2380G>T, p.(E794*)" "" "Unknown" "yes" "" "0" "" "" "g.54626262G>T" "" "pathogenic" "ACMG" "0000824355" "0" "90" "8" "55538730" "55538730" "del" "0" "00000" "RP1_000314" "g.55538730del" "" "{PMID:Xiao-2021:33598457}" "" "RP1 c.2286delA, p.(N763Ifs*12)" "error in annotation, automapping of c.2286del to c.2288del" "Unknown" "yes" "" "0" "" "" "g.54626170del" "" "pathogenic" "ACMG" "0000824356" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Xiao-2021:33598457}" "" "RP1 c.2029C>T, p.(R677*)" "" "Unknown" "yes" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "ACMG" "0000824367" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Xiao-2021:33598457}" "" "RP1 c.2029C>T, p.(R677*)" "" "Unknown" "yes" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "ACMG" "0000824377" "0" "90" "8" "55538559" "55538559" "del" "0" "00000" "RP1_000313" "g.55538559del" "" "{PMID:Xiao-2021:33598457}" "" "RP1 c.2116delG, p.(G706Vfs*7)" "error in annotation, automapping of c.2116del to c.2117del" "Unknown" "yes" "" "0" "" "" "g.54625999del" "" "pathogenic" "ACMG" "0000824387" "0" "70" "8" "55537422" "55537422" "subst" "0" "00000" "RP1_000425" "g.55537422A>C" "" "{PMID:Xiao-2021:33598457}" "" "RP1 c.980A>C, p.(Q327P)" "" "Unknown" "yes" "" "0" "" "" "g.54624862A>C" "" "likely pathogenic" "ACMG" "0000824414" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Xiao-2021:33598457}" "" "RP1 c.2029C>T, p.(R677*)" "" "Unknown" "yes" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "ACMG" "0000824643" "0" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.C5797T, p.R1933X" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.54629679C>T" "" "VUS" "ACMG" "0000824655" "0" "50" "8" "55541185" "55541185" "dup" "0" "00000" "RP1_000349" "g.55541185dup" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.4737dupA, p.L1579fs" "NM_006269.1:c.4737dupA automapped to NM_006269.1:c.4743dupA, error in annotation, this mutation causes p.Cys1582MetfsTer9 and not p.Leu1579fs; marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54628625dup" "" "VUS" "ACMG" "0000824659" "0" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.C5797T, p.R1933X" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.54629679C>T" "" "VUS" "ACMG" "0000824680" "3" "50" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.4196delG, p.C1399fs" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.54628078del" "" "VUS" "ACMG" "0000824694" "0" "50" "8" "55534711" "55534711" "del" "0" "00000" "RP1_000329" "g.55534711del" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.649delG, p.G217fs" "NM_006269.1:c.649delG automapped to NM_006269.1:c.650delG; marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54622151del" "" "VUS" "ACMG" "0000824737" "0" "50" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.6179delA, p.E2060fs" "NM_006269.1:c.6179delA automapped to NM_006269.1:c.6181delA, error in annotation, this mutation causes p.Ile2061SerfsTer12 and not p.Glu2060fs; marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54630063del" "" "VUS" "ACMG" "0000824742" "0" "90" "8" "55534711" "55534711" "del" "0" "00000" "RP1_000329" "g.55534711del" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.649delG, p.G217fs" "NM_006269.1:c.649delG automapped to NM_006269.1:c.650delG; marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54622151del" "" "pathogenic" "ACMG" "0000824745" "0" "50" "8" "55542107" "55542107" "subst" "0" "00000" "RP1_000428" "g.55542107C>T" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.C5665T, p.Q1889X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54629547C>T" "" "VUS" "ACMG" "0000824761" "0" "50" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.6179delA, p.E2060fs" "NM_006269.1:c.6179delA automapped to NM_006269.1:c.6181delA, error in annotation, this mutation causes p.Ile2061SerfsTer12 and not p.Glu2060fs; marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54630063del" "" "VUS" "ACMG" "0000824773" "3" "50" "8" "55542795" "55542795" "subst" "2.45357E-5" "00000" "RP1_000203" "g.55542795G>A" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.G6353A, p.S2118N" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.54630235G>A" "" "VUS" "ACMG" "0000824783" "0" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.C5797T, p.R1933X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000824805" "0" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.C5797T, p.R1933X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54629679C>T" "" "VUS" "ACMG" "0000824807" "0" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Ma 2021:33691693}" "" "RP1 c.C5797T, p.R1933X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.54629679C>T" "" "VUS" "ACMG" "0000825684" "0" "70" "8" "55541185" "55541185" "dup" "0" "00000" "RP1_000349" "g.55541185dup" "" "{PMID:Liu-2020:33090715}" "" "c.4743dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825685" "0" "70" "8" "55541973" "55541973" "dup" "0" "00000" "RP1_000351" "g.55541973dup" "" "{PMID:Liu-2020:33090715}" "" "c.5531dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825781" "3" "70" "8" "55533952" "55533952" "dup" "0" "00000" "RP1_000309" "g.55533952dup" "" "{PMID:Liu-2020:33090715}" "" "c.426-427insA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825982" "0" "70" "8" "55538067" "55538071" "del" "0" "00000" "RP1_000433" "g.55538067_55538071del" "" "{PMID:Liu-2020:33090715}" "" "c.1625_1629delCAAGT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825983" "0" "70" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Liu-2020:33090715}" "" "c.4196delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825984" "0" "70" "8" "55533782" "55533782" "subst" "7.31119E-5" "00000" "RP1_000154" "g.55533782C>A" "" "{PMID:Liu-2020:33090715}" "" "c.256C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000826074" "0" "70" "8" "55533782" "55533782" "subst" "7.31119E-5" "00000" "RP1_000154" "g.55533782C>A" "" "{PMID:Liu-2020:33090715}" "" "c.256C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826075" "0" "70" "8" "55533648" "55533648" "subst" "8.12117E-6" "00000" "RP1_000430" "g.55533648A>G" "" "{PMID:Liu-2020:33090715}" "" "c.122A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826191" "0" "70" "8" "55533783" "55533783" "dup" "0" "00000" "RP1_000324" "g.55533783dup" "" "{PMID:Liu-2020:33090715}" "" "c.254dupC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826192" "0" "70" "8" "55533546" "55533546" "del" "0" "00000" "RP1_000429" "g.55533546del" "" "{PMID:Liu-2020:33090715}" "" "c.20delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826218" "0" "70" "8" "55538380" "55538383" "del" "0" "00000" "RP1_000435" "g.55538380_55538383del" "" "{PMID:Liu-2020:33090715}" "" "c.1934_1937delTAAT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826219" "0" "70" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Liu-2020:33090715}" "" "c.6179delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826284" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Liu-2020:33090715}" "" "c.5797C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000826373" "0" "70" "8" "55541246" "55541246" "subst" "1.22034E-5" "00000" "RP1_000350" "g.55541246C>T" "" "{PMID:Liu-2020:33090715}" "" "c.4804C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826374" "0" "70" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Liu-2020:33090715}" "" "c.6181delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826382" "0" "70" "8" "55538380" "55538383" "del" "0" "00000" "RP1_000435" "g.55538380_55538383del" "" "{PMID:Liu-2020:33090715}" "" "c.1934_1937delTAAT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826383" "0" "70" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Liu-2020:33090715}" "" "c.6179delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826955" "3" "50" "8" "55534017" "55534017" "subst" "4.10398E-5" "00000" "RP1_000431" "g.55534017C>G" "" "{PMID:Thorsteinsson 2021:33851411}" "" "RP1 c.491C>G, p.Pro164Arg" "homozygous" "Unknown" "?" "" "0" "" "" "g.54621457C>G" "" "VUS" "" "0000827172" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.2029C>T" "" "Germline" "" "rs104894082" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827173" "0" "90" "8" "55538889" "55538889" "dup" "0" "00000" "RP1_000436" "g.55538889dup" "" "{PMID:Colombo-2020:33576794}" "" "c.2447dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827174" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2219C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827175" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2219C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827176" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2219C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827177" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2219C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827178" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2219C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827179" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2219C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827180" "0" "90" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Colombo-2020:33576794}" "" "c.3157del" "" "Germline" "yes" "rs748709396" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827181" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2219C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827182" "0" "90" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Colombo-2020:33576794}" "" "c.3157del" "" "Germline" "" "rs748709396" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827183" "0" "90" "8" "55538661" "55538661" "subst" "0" "00000" "RP1_000174" "g.55538661C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2219C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827184" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.2029C>T" "" "Germline" "" "rs104894082" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827322" "0" "90" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Colombo-2020:33576794}" "" "c.3157del" "" "Germline" "yes" "rs748709396" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827323" "0" "90" "8" "55542404" "55542404" "dup" "0" "00000" "RP1_000283" "g.55542404dup" "" "{PMID:Colombo-2020:33576794}" "" "c.5962dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827324" "0" "90" "8" "55537676" "55537676" "dup" "0" "00000" "RP1_000385" "g.55537676dup" "" "{PMID:Colombo-2020:33576794}" "" "c.1234dup" "" "Germline" "" "rs760283610" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827325" "0" "90" "8" "55538162" "55538163" "del" "0" "00000" "RP1_000434" "g.55538162_55538163del" "" "{PMID:Colombo-2020:33576794}" "" "c.1720_1721del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827326" "3" "90" "8" "55542404" "55542404" "dup" "0" "00000" "RP1_000283" "g.55542404dup" "" "{PMID:Colombo-2020:33576794}" "" "c.5962dup" "" "Germline" "" "rs769512989" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827327" "3" "90" "8" "55542404" "55542404" "dup" "0" "00000" "RP1_000283" "g.55542404dup" "" "{PMID:Colombo-2020:33576794}" "" "c.5962dup" "" "Germline" "" "rs769512989" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827328" "3" "90" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Colombo-2020:33576794}" "" "c.3157del" "" "Germline" "yes" "rs748709396" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827329" "3" "90" "8" "55537229" "55537229" "subst" "0" "00000" "RP1_000432" "g.55537229G>C" "" "{PMID:Colombo-2020:33576794}" "" "c.788-1G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000828880" "0" "90" "8" "55541246" "55541246" "subst" "1.22034E-5" "00000" "RP1_000350" "g.55541246C>T" "" "{PMID:Chen 2021:43360855}" "" "RP1 c.[4804C>T];[4804=], V1: c.4804C>T, (p.Gln1602Ter)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54628686C>T" "" "pathogenic" "ACMG" "0000828881" "0" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Chen 2021:43360855}" "" "RP1 c.[5797C>T];[5797=], V1: c.5797C>T, (p.Arg1933Ter)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000828882" "0" "90" "8" "55538732" "55538732" "dup" "0" "00000" "RP1_000438" "g.55538732dup" "" "{PMID:Chen 2021:43360855}" "" "RP1 c.[2290dupA];[2290=], V1: c.2290dupA, (p.Thr764AsnfsTer17)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626172dup" "" "pathogenic" "ACMG" "0000828926" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Chen 2021:43360855}" "" "RP1 c.[2029C>T];[2029=], V1: c.2029C>T, (p.Arg677Ter)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "ACMG" "0000829056" "0" "70" "8" "55538614" "55538627" "del" "0" "00000" "RP1_000045" "g.55538614_55538627del" "" "{PMID:Georgiou 2021:32795431}" "" "RP1 c.2172_2185del, p.Ile725Argfs*6" "" "Unknown" "?" "" "0" "" "" "g.54626054_54626067del" "" "likely pathogenic" "" "0000829057" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Georgiou 2021:32795431}" "" "RP1 c.2029C>T, p.Arg667*" "error in annotation, protein change should be p.Arg677* and not p.Arg667*" "Unknown" "?" "" "0" "" "" "g.54625911C>T" "" "likely pathogenic" "" "0000829058" "0" "70" "8" "55538648" "55538648" "dup" "0" "00000" "RP1_000437" "g.55538648dup" "" "{PMID:Georgiou 2021:32795431}" "" "RP1 c.2206dupA, p.Thr736Asnfs*4" "" "Unknown" "?" "" "0" "" "" "g.54626088dup" "" "likely pathogenic" "" "0000829779" "3" "70" "8" "55533686" "55533686" "del" "0" "00000" "RP1_000251" "g.55533686del" "" "{PMID:Dockery 2017:29099798}" "" "RP1 c.160delG, p.Val54fs" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, homozygous" "Germline" "yes" "" "0" "" "" "g.54621126del" "" "likely pathogenic" "" "0000829858" "3" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Numa-2020:33247286}" "" "c.4196delG:p.C1399fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829859" "3" "90" "8" "55542795" "55542795" "subst" "2.45357E-5" "00000" "RP1_000203" "g.55542795G>A" "" "{PMID:Numa-2020:33247286}" "" "c.6353G>A:p.S2118N" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829863" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000000" "g.55540494_55540495ins328" "" "{PMID:Numa-2020:33247286}" "" "c.4052_4053ins328" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829865" "0" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000000" "g.55540494_55540495ins328" "" "{PMID:Numa-2020:33247286}" "" "c.4052_4053ins328" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829866" "0" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Numa-2020:33247286}" "" "c.4196delG:p.C1399fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829867" "0" "90" "8" "55542795" "55542795" "subst" "2.45357E-5" "00000" "RP1_000203" "g.55542795G>A" "" "{PMID:Numa-2020:33247286}" "" "c.6353G>A:p.S2118N" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829872" "0" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000000" "g.55540494_55540495ins328" "" "{PMID:Numa-2020:33247286}" "" "c.4052_4053ins328" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829873" "0" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Numa-2020:33247286}" "" "c.5797C>T:p.R1933X" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829890" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000000" "g.55540494_55540495ins328" "" "{PMID:Numa-2020:33247286}" "" "c.4052_4053ins328" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829926" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000000" "g.55540494_55540495ins328" "" "{PMID:Numa-2020:33247286}" "" "c.4052_4053ins328" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829939" "0" "90" "8" "55538585" "55538585" "subst" "0" "00000" "RP1_000406" "g.55538585C>T" "" "{PMID:Numa-2020:33247286}" "" "c.2143C>T:p.Q715X" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841436" "3" "90" "8" "55534723" "55534723" "del" "0" "00006" "RP1_000007" "g.55534723del" "" "{PMID:Aldahmesh 2009:19956407}" "" "" "" "Germline" "yes" "" "0" "" "" "g.54622163del" "" "pathogenic (recessive)" "" "0000841437" "3" "90" "8" "55534132" "55534132" "subst" "0" "00006" "RP1_000040" "g.55534132C>A" "" "{PMID:Aldahmesh 2009:19956407}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000851946" "0" "50" "8" "55533824" "55533824" "subst" "4.06382E-6" "02327" "RP1_000439" "g.55533824G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851947" "0" "30" "8" "55538074" "55538074" "subst" "4.47533E-5" "02330" "RP1_000441" "g.55538074A>G" "" "" "" "RP1(NM_006269.2):c.1632A>G (p.A544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851948" "0" "90" "8" "55538428" "55538428" "del" "4.0861E-6" "02327" "RP1_000443" "g.55538428del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851949" "0" "30" "8" "55538855" "55538855" "subst" "8.14127E-5" "02327" "RP1_000446" "g.55538855A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851950" "0" "50" "8" "55539382" "55539384" "del" "0" "02327" "RP1_000447" "g.55539382_55539384del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851951" "0" "50" "8" "55540898" "55540898" "subst" "4.08187E-5" "02330" "RP1_000448" "g.55540898G>A" "" "" "" "RP1(NM_006269.1):c.4456G>A (p.(Gly1486Arg)), RP1(NM_006269.2):c.4456G>A (p.G1486R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851952" "0" "50" "8" "55541334" "55541334" "subst" "0" "02330" "RP1_000450" "g.55541334C>G" "" "" "" "RP1(NM_006269.2):c.4892C>G (p.A1631G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851953" "0" "50" "8" "55541592" "55541592" "subst" "0" "01943" "RP1_000451" "g.55541592A>G" "" "" "" "RP1(NM_006269.1):c.5150A>G (p.D1717G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851954" "0" "10" "8" "55542143" "55542143" "subst" "0.00147729" "02330" "RP1_000223" "g.55542143C>T" "" "" "" "RP1(NM_006269.1):c.5701C>T (p.L1901F), RP1(NM_006269.2):c.5701C>T (p.L1901F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851955" "0" "50" "8" "55542765" "55542765" "subst" "4.08764E-5" "02330" "RP1_000452" "g.55542765T>G" "" "" "" "RP1(NM_006269.2):c.6323T>G (p.I2108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861239" "0" "50" "8" "55533894" "55533908" "del" "0" "01943" "RP1_000440" "g.55533894_55533908del" "" "" "" "RP1(NM_006269.1):c.368_382delGCCCGCGGCCCTGGC (p.R123_W127del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861240" "0" "30" "8" "55534013" "55534013" "subst" "0.000751065" "02330" "RP1_000110" "g.55534013G>A" "" "" "" "RP1(NM_006269.1):c.487G>A (p.D163N), RP1(NM_006269.2):c.487G>A (p.D163N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861241" "0" "50" "8" "55534713" "55534713" "subst" "0.000300505" "01943" "RP1_000070" "g.55534713G>A" "" "" "" "RP1(NM_006269.1):c.652G>A (p.A218T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861242" "0" "50" "8" "55538221" "55538221" "subst" "1.6251E-5" "01943" "RP1_000442" "g.55538221G>T" "" "" "" "RP1(NM_006269.1):c.1779G>T (p.K593N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861243" "0" "50" "8" "55538466" "55538466" "subst" "8.14485E-6" "02330" "RP1_000444" "g.55538466A>T" "" "" "" "RP1(NM_006269.2):c.2024A>T (p.K675I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861244" "0" "70" "8" "55538564" "55538564" "del" "0" "02330" "RP1_000445" "g.55538564del" "" "" "" "RP1(NM_006269.2):c.2122delA (p.I708Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861245" "0" "90" "8" "55540684" "55540685" "del" "0" "01943" "RP1_000091" "g.55540684_55540685del" "" "" "" "RP1(NM_006269.1):c.4242_4243delTA (p.H1414Qfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861246" "0" "70" "8" "55541042" "55541042" "dup" "0" "02330" "RP1_000449" "g.55541042dup" "" "" "" "RP1(NM_006269.2):c.4600dupA (p.T1534Nfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000870992" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:deSousa Dias 2015:26321861}" "" "RP1 c.2029C>T, p.(Arg677Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871595" "20" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871596" "10" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871597" "3" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "homozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871598" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871599" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871600" "3" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "homozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871601" "20" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871602" "10" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871603" "10" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871604" "20" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871605" "10" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871606" "10" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871607" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871608" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871609" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871610" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871611" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871612" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871613" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871614" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871615" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871616" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: Arg677Ter" "heterozygous" "Unknown" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871617" "20" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 762, sequence: TAAAT del, protein: Leu762(5-bp del)" "heterozygous" "Germline" "yes" "rs869320726" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic (dominant)" "" "0000871618" "11" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 762, sequence: TAAAT del, protein: Leu762(5-bp del)" "heterozygous" "Germline" "yes" "rs869320726" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic (dominant)" "" "0000871619" "11" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 762, sequence: TAAAT del, protein: Leu762(5-bp del)" "heterozygous" "Germline" "yes" "rs869320726" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic (dominant)" "" "0000871620" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 762, sequence: TAAAT del, protein: Leu762(5-bp del)" "heterozygous" "Germline" "yes" "rs869320726" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic (dominant)" "" "0000871621" "21" "70" "8" "55538729" "55538732" "del" "0" "00000" "RP1_000054" "g.55538729_55538732del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 763, sequence: AAAT del (nt 2,434−2,437 of RP1 cDNA), protein: Asn763(4-bp de" "heterozygous" "Germline" "yes" "rs869320727" "0" "" "" "g.54626169_54626172del" "" "likely pathogenic (dominant)" "" "0000871622" "0" "70" "8" "55538729" "55538732" "del" "0" "00000" "RP1_000054" "g.55538729_55538732del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 763, sequence: AAAT del (nt 2,434−2,437 of RP1 cDNA), protein: Asn763(4-bp de" "heterozygous" "Germline" "yes" "rs869320727" "0" "" "" "g.54626169_54626172del" "" "likely pathogenic (dominant)" "" "0000871623" "21" "70" "8" "55538729" "55538732" "del" "0" "00000" "RP1_000054" "g.55538729_55538732del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 763, sequence: AAAT del (nt 2,434−2,437 of RP1 cDNA), protein: Asn763(4-bp de" "heterozygous" "Germline" "yes" "rs869320727" "0" "" "" "g.54626169_54626172del" "" "likely pathogenic (dominant)" "" "0000871624" "21" "70" "8" "55538729" "55538732" "del" "0" "00000" "RP1_000054" "g.55538729_55538732del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 763, sequence: AAAT del (nt 2,434−2,437 of RP1 cDNA), protein: Asn763(4-bp de" "heterozygous" "Germline" "yes" "rs869320727" "0" "" "" "g.54626169_54626172del" "" "likely pathogenic (dominant)" "" "0000871625" "21" "70" "8" "55538729" "55538732" "del" "0" "00000" "RP1_000054" "g.55538729_55538732del" "0/95 control individuals" "{PMID:Pierce 1999:10390211}" "" "RP1 codon: 763, sequence: AAAT del (nt 2,434−2,437 of RP1 cDNA), protein: Asn763(4-bp de" "heterozygous" "Germline" "yes" "rs869320727" "0" "" "" "g.54626169_54626172del" "" "likely pathogenic (dominant)" "" "0000871626" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871627" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871628" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871629" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871630" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871631" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871632" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871633" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871634" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871635" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871636" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871637" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871638" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871639" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871640" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871641" "1" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/100 control individuals" "{PMID:Guillonneau 1999:10401003}" "" "RP1 codon: 677, sequence: CGA->TGA, protein: R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871642" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Liu 2003:14507858}" "" "RP1 Arg677Ter" "heterozygous; the presence of mutant RP1 mRNA in lympho-blasts from patients with RP1 disease implies that the mutant message can escape nonsense-mediated mRNA decay and that a truncated RP1 protein may be produced in the retina; truncated Rp1-myc protein appears to be nonfunctional, not exerting a dominant negative effect in the photoreceptors of heterozygous mice; mice homozygous for the mutant Rp1-mycallele underwent a rapid-onset retinal degeneration characterized by incorrectly oriented outer segment discs that failed to stack properly into outer segments" "In vitro (cloned)" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871645" "20" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "1/101" "{PMID:Zhang 2002:12048676}" "" "RP1 R677X" "heterozygous; abstract only" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871646" "20" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "heterozygous also in three control individuals" "{PMID:Zhang 2002:12048676}" "" "RP1 R1933X" "heterozygous; does not cause dominant disease - authors proposed that RP can be caused by lack of the region of RP1 protein after codon 1052 but before 1933; abstract only" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "VUS" "" "0000871651" "0" "70" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "0/187 control individuals" "{PMID:Schwartz 2003:12882812}" "" "RP1 Arg677Ter" "heterozygous; marker analysis confirms de novo origin" "De novo" "?" "rs104894082" "0" "" "" "g.54625911C>T" "" "likely pathogenic (dominant)" "" "0000871658" "0" "50" "8" "55534807" "55534807" "subst" "8.1213E-6" "00000" "RP1_000026" "g.55534807G>A" "" "{PMID:Chiang 2006:15933747}" "" "RP1 746G>A, R249H" "heterozygous" "Germline" "?" "" "0" "" "" "g.54622247G>A" "" "VUS" "" "0000871659" "0" "50" "8" "55537879" "55537879" "subst" "4.06345E-5" "00000" "RP1_000072" "g.55537879G>T" "" "{PMID:Chiang 2006:15933747}" "" "RP1 1437G>T, M479I" "heterozygous" "Germline" "?" "" "0" "" "" "g.54625319G>T" "" "VUS" "" "0000871660" "0" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Chiang 2006:15933747}" "" "RP1 2029C>T, R677X" "heterozygous" "Germline" "?" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000871661" "0" "10" "8" "55538623" "55538623" "subst" "0" "00000" "RP1_000463" "g.55538623T>G" "" "{PMID:Chiang 2006:15933747}" "" "RP1 2180T>G, C727W" "heterozygous; error in annotation C727W is caused by c.2181T>G and not c.2180T>G" "Germline" "no" "" "0" "" "" "g.54626063T>G" "" "benign" "" "0000871662" "0" "10" "8" "55538623" "55538623" "subst" "0" "00000" "RP1_000463" "g.55538623T>G" "" "{PMID:Chiang 2006:15933747}" "" "RP1 2180T>G, C727W" "heterozygous; error in annotation C727W is caused by c.2181T>G and not c.2180T>G" "Germline" "no" "" "0" "" "" "g.54626063T>G" "" "benign" "" "0000871663" "0" "90" "8" "55539393" "55539393" "subst" "9.75967E-5" "00000" "RP1_000039" "g.55539393A>G" "" "{PMID:Chiang 2006:15933747}" "" "RP1 2951A>G, D984G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626833A>G" "" "pathogenic" "" "0000871664" "0" "90" "8" "55539393" "55539393" "subst" "9.75967E-5" "00000" "RP1_000039" "g.55539393A>G" "" "{PMID:Chiang 2006:15933747}" "" "RP1 2951A>G, D984G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626833A>G" "" "pathogenic" "" "0000871665" "0" "50" "8" "55542934" "55542934" "subst" "0" "00000" "RP1_000474" "g.55542934T>G" "" "{PMID:Chiang 2006:15933747}" "" "RP1 6492T>G, 3\'UTR" "heterozygous" "Germline" "?" "" "0" "" "" "g.54630374T>G" "" "VUS" "" "0000871667" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Sheng 2008:18347624}" "" "RP1 N985Y" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic (dominant)" "" "0000871668" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Sheng 2008:18347624}" "" "RP1 N985Y" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic (dominant)" "" "0000871669" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Sheng 2008:18347624}" "" "RP1 N985Y" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic (dominant)" "" "0000871670" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Sheng 2008:18347624}" "" "RP1 N985Y" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic (dominant)" "" "0000871671" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Sheng 2008:18347624}" "" "RP1 N985Y" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic (dominant)" "" "0000871672" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Sheng 2008:18347624}" "" "RP1 N985Y" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic (dominant)" "" "0000871673" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Sheng 2008:18347624}" "" "RP1 N985Y" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic (dominant)" "" "0000871674" "0" "70" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "" "{PMID:Sheng 2008:18347624}" "" "RP1 N985Y" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.54626835A>T" "" "likely pathogenic (dominant)" "" "0000871675" "0" "30" "8" "55534882" "55534882" "subst" "8.99178E-5" "00000" "RP1_000081" "g.55534882T>C" "controls: 0/190" "{PMID:Zhang 2010:20664799}" "" "RP1 c.787+34T>C, p.?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54622322T>C" "" "likely benign" "" "0000871676" "0" "50" "8" "55537664" "55537664" "subst" "0" "00000" "RP1_000071" "g.55537664A>C" "controls: 0/552" "{PMID:Zhang 2010:20664799}" "" "RP1 c.1222A>C, p.I408L" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625104A>C" "" "VUS" "" "0000871677" "0" "30" "8" "55538558" "55538558" "subst" "0.000325362" "00000" "RP1_000009" "g.55538558G>C" "controls: 1/190" "{PMID:Zhang 2010:20664799}" "" "RP1 c.2116G>C, p.G706R" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625998G>C" "" "likely benign" "" "0000871678" "0" "30" "8" "55538558" "55538558" "subst" "0.000325362" "00000" "RP1_000009" "g.55538558G>C" "controls: 1/190" "{PMID:Zhang 2010:20664799}" "" "RP1 c.2116G>C, p.G706R" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625998G>C" "" "likely benign" "" "0000871679" "0" "10" "8" "55539057" "55539057" "subst" "0.274715" "00000" "RP1_000034" "g.55539057G>A" "controls: 130/190, patients: 43/55" "{PMID:Zhang 2010:20664799}" "" "RP1 c.2615G>A, p.R872H" "heterozygous" "Unknown" "?" "rs444772" "0" "" "" "g.54626497G>A" "" "benign" "" "0000871680" "0" "10" "8" "55539395" "55539395" "subst" "0.345024" "00000" "RP1_000011" "g.55539395A>T" "controls: 27/190" "{PMID:Zhang 2010:20664799}" "" "RP1 c.2953A>T, p.N985Y" "heterozygous" "Unknown" "?" "rs2293869" "0" "" "" "g.54626835A>T" "" "benign" "" "0000871681" "0" "30" "8" "55539466" "55539466" "subst" "0.000370247" "00000" "RP1_000013" "g.55539466G>A" "controls: 1/190" "{PMID:Zhang 2010:20664799}" "" "RP1 c.3024G>A, p.Q1008Q" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626906G>A" "" "likely benign" "" "0000871682" "0" "70" "8" "55540550" "55540550" "subst" "2.44019E-5" "00000" "RP1_000064" "g.55540550A>G" "controls: 0/552" "{PMID:Zhang 2010:20664799}" "" "RP1 c.4108A>G, p.K1370E" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54627990A>G" "" "likely pathogenic (dominant)" "" "0000871683" "0" "70" "8" "55541397" "55541397" "subst" "1.21912E-5" "00000" "RP1_000066" "g.55541397G>T" "controls: 0/552" "{PMID:Zhang 2010:20664799}" "" "RP1 c.4955G>T, p.R1652L" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54628837G>T" "" "likely pathogenic (dominant)" "" "0000871684" "0" "10" "8" "55541450" "55541450" "subst" "0.258505" "00000" "RP1_000088" "g.55541450G>A" "controls: 106/190, patients: 44/55" "{PMID:Zhang 2010:20664799}" "" "RP1 c.5008G>A, p.A1670T" "heterozygous" "Unknown" "?" "rs446227" "0" "" "" "g.54628890G>A" "" "benign" "" "0000871685" "0" "10" "8" "55541513" "55541513" "subst" "0.276351" "00000" "RP1_000089" "g.55541513T>C" "controls: 106/190, patients: 44/55" "{PMID:Zhang 2010:20664799}" "" "RP1 c.5071T>C, p.S1691P" "heterozygous" "Unknown" "?" "rs414352" "0" "" "" "g.54628953T>C" "" "benign" "" "0000871686" "0" "10" "8" "55541617" "55541617" "subst" "0.256953" "00000" "RP1_000129" "g.55541617A>G" "controls: 106/190, patients: 44/55" "{PMID:Zhang 2010:20664799}" "" "RP1 c.5175A>G, p.Q1725Q" "heterozygous" "Unknown" "?" "rs441800" "0" "" "" "g.54629057A>G" "" "benign" "" "0000871687" "0" "30" "8" "55542487" "55542487" "subst" "4.48054E-5" "00000" "RP1_000022" "g.55542487A>G" "controls: 0/190" "{PMID:Zhang 2010:20664799}" "" "RP1 c.6045A>G, p.L2015L" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54629927A>G" "" "likely benign" "" "0000871688" "0" "10" "8" "55542540" "55542540" "subst" "0.337314" "00000" "RP1_000104" "g.55542540G>A" "controls: 27/190" "{PMID:Zhang 2010:20664799}" "" "RP1 c.6098G>A, p.C2033Y" "heterozygous" "Unknown" "?" "rs61739567" "0" "" "" "g.54629980G>A" "" "benign" "" "0000871689" "0" "30" "8" "55542984" "55542984" "subst" "0" "00000" "RP1_000025" "g.55542984C>T" "controls: 2/190" "{PMID:Zhang 2010:20664799}" "" "RP1 c.6542C>T, p.?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54630424C>T" "" "likely benign" "" "0000871691" "20" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Mukhopadhyay 2011:21746989}" "" "RP1 c.2029CT, p.R677X" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "pathogenic (dominant)" "" "0000871692" "20" "70" "8" "55540994" "55540994" "subst" "0" "00000" "RP1_000348" "g.55540994A>T" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.4552A>T, p.K1518X" "homozygous" "Germline" "yes" "" "0" "" "" "g.54628434A>T" "" "likely pathogenic (recessive)" "" "0000871693" "20" "70" "8" "55540994" "55540994" "subst" "0" "00000" "RP1_000348" "g.55540994A>T" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.4552A>T, p.K1518X" "homozygous" "Germline" "yes" "" "0" "" "" "g.54628434A>T" "" "likely pathogenic (recessive)" "" "0000871694" "20" "70" "8" "55540994" "55540994" "subst" "0" "00000" "RP1_000348" "g.55540994A>T" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.4552A>T, p.K1518X" "homozygous" "Germline" "yes" "" "0" "" "" "g.54628434A>T" "" "likely pathogenic (recessive)" "" "0000871695" "20" "70" "8" "55540994" "55540994" "subst" "0" "00000" "RP1_000348" "g.55540994A>T" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.4552A>T, p.K1518X" "homozygous" "Germline" "yes" "" "0" "" "" "g.54628434A>T" "" "likely pathogenic (recessive)" "" "0000871696" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX25" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871697" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX26" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871698" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX27" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871699" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX28" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871700" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX29" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871701" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX30" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871702" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX31" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871703" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX32" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871704" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX33" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871705" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX34" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871706" "20" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3428delA, p.N1143IfsX35" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871707" "20" "70" "8" "55540119" "55540119" "dup" "0" "00000" "RP1_000470" "g.55540119dup" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3677_3678dupA, p.E1227MfsX29" "homozygous; error in annotation, only the duplicated nucleotide should be indicated (c.3677dupA) and not c.3677_3678dupA" "Germline" "yes" "" "0" "" "" "g.54627559dup" "" "likely pathogenic (recessive)" "" "0000871708" "20" "70" "8" "55540119" "55540119" "dup" "0" "00000" "RP1_000470" "g.55540119dup" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3677_3678dupA, p.E1227MfsX30" "homozygous; error in annotation, only the duplicated nucleotide should be indicated (c.3677dupA) and not c.3677_3678dupA" "Germline" "yes" "" "0" "" "" "g.54627559dup" "" "likely pathogenic (recessive)" "" "0000871709" "20" "70" "8" "55540119" "55540119" "dup" "0" "00000" "RP1_000470" "g.55540119dup" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3677_3678dupA, p.E1227MfsX31" "homozygous; error in annotation, only the duplicated nucleotide should be indicated (c.3677dupA) and not c.3677_3678dupA" "Germline" "yes" "" "0" "" "" "g.54627559dup" "" "likely pathogenic (recessive)" "" "0000871710" "20" "70" "8" "55540119" "55540119" "dup" "0" "00000" "RP1_000470" "g.55540119dup" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1 c.3677_3678dupA, p.E1227MfsX32" "homozygous; error in annotation, only the duplicated nucleotide should be indicated (c.3677dupA) and not c.3677_3678dupA" "Germline" "yes" "" "0" "" "" "g.54627559dup" "" "likely pathogenic (recessive)" "" "0000871711" "20" "70" "8" "55539838" "55539838" "subst" "8.13273E-6" "00000" "RP1_000094" "g.55539838G>A" "" "{PMID:Al Rashed 2012:22317909}" "" "RP1c.3396G>A, p.W1131X" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627278G>A" "" "likely pathogenic (recessive)" "" "0000871712" "3" "70" "8" "55533619" "55533631" "delins" "0" "00000" "RP1_000131" "g.55533619_55533631delinsAAA" "" "Lafont 2011" "" "RP1 c.93_105del13ins3, p.His31GlnfsX47" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621059_54621071delinsAAA" "" "likely pathogenic (recessive)" "" "0000871713" "3" "70" "8" "55533619" "55533631" "delins" "0" "00000" "RP1_000131" "g.55533619_55533631delinsAAA" "" "Lafont 2011" "" "RP1 c.93_105del13ins3, p.His31GlnfsX47" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621059_54621071delinsAAA" "" "likely pathogenic (recessive)" "" "0000871714" "3" "70" "8" "55533619" "55533631" "delins" "0" "00000" "RP1_000131" "g.55533619_55533631delinsAAA" "" "Lafont 2011" "" "RP1 c.93_105del13ins3, p.His31GlnfsX47" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621059_54621071delinsAAA" "" "likely pathogenic (recessive)" "" "0000871715" "3" "70" "8" "55533995" "55533995" "del" "0" "00000" "RP1_000456" "g.55533995del" "" "Lafont 2011" "" "RP1 c.469delG, p.Val157TrpfsX16" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621435del" "" "likely pathogenic (recessive)" "" "0000871716" "20" "70" "8" "55538460" "55538460" "del" "0" "00000" "RP1_000462" "g.55538460del" "" "Lafont 2011" "" "RP1 c.2018delA, p.Lys673ArgfsX9" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625900del" "" "likely pathogenic (dominant)" "" "0000871717" "20" "70" "8" "55538477" "55538477" "subst" "0" "00000" "RP1_000020" "g.55538477C>T" "" "Lafont 2011" "" "RP1 c.2035C>T, p.Gln679X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625917C>T" "" "likely pathogenic (dominant)" "" "0000871718" "10" "70" "8" "55538477" "55538477" "subst" "0" "00000" "RP1_000020" "g.55538477C>T" "" "Lafont 2011" "" "RP1 c.2035C>T, p.Gln679X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625917C>T" "" "likely pathogenic (dominant)" "" "0000871719" "20" "70" "8" "55538497" "55538497" "subst" "0" "00000" "RP1_000369" "g.55538497T>G" "" "Lafont 2011" "" "RP1 c.2055T>G, p.Tyr685X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625937T>G" "" "likely pathogenic (dominant)" "" "0000871720" "20" "70" "8" "55538497" "55538497" "subst" "0" "00000" "RP1_000369" "g.55538497T>G" "" "Lafont 2011" "" "RP1 c.2055T>G, p.Tyr685X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625937T>G" "" "likely pathogenic (dominant)" "" "0000871721" "20" "70" "8" "55538497" "55538497" "subst" "0" "00000" "RP1_000369" "g.55538497T>G" "" "Lafont 2011" "" "RP1 c.2055T>G, p.Tyr685X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625937T>G" "" "likely pathogenic (dominant)" "" "0000871722" "11" "70" "8" "55538497" "55538497" "subst" "0" "00000" "RP1_000369" "g.55538497T>G" "" "Lafont 2011" "" "RP1 c.2055T>G, p.Tyr685X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625937T>G" "" "likely pathogenic (dominant)" "" "0000871723" "11" "70" "8" "55538497" "55538497" "subst" "0" "00000" "RP1_000369" "g.55538497T>G" "" "Lafont 2011" "" "RP1 c.2055T>G, p.Tyr685X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625937T>G" "" "likely pathogenic (dominant)" "" "0000871724" "11" "70" "8" "55538497" "55538497" "subst" "0" "00000" "RP1_000369" "g.55538497T>G" "" "Lafont 2011" "" "RP1 c.2055T>G, p.Tyr685X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625937T>G" "" "likely pathogenic (dominant)" "" "0000871725" "10" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871726" "10" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871727" "10" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871728" "0" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871729" "11" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871730" "11" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871731" "20" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871732" "10" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871733" "10" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871734" "20" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871735" "20" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871736" "20" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871737" "11" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871738" "11" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871739" "21" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871740" "21" "70" "8" "55538611" "55538611" "del" "0" "00000" "RP1_000041" "g.55538611del" "" "Lafont 2011" "" "RP1 c.2169delA, p.Ile725TyrfsX13" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626051del" "" "likely pathogenic (dominant)" "" "0000871741" "0" "70" "8" "55538685" "55538685" "del" "0" "00000" "RP1_000464" "g.55538685del" "" "Lafont 2011" "" "RP1 c.2243delA, p.Asn748IlefsX15" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626125del" "" "likely pathogenic (dominant)" "" "0000871742" "21" "70" "8" "55538685" "55538685" "del" "0" "00000" "RP1_000464" "g.55538685del" "" "Lafont 2011" "" "RP1 c.2243delA, p.Asn748IlefsX15" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626125del" "" "likely pathogenic (dominant)" "" "0000871743" "20" "70" "8" "55539027" "55539027" "subst" "0" "00000" "RP1_000467" "g.55539027C>A" "" "Lafont 2011" "" "RP1 c.2585C>A, p.Ser862X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626467C>A" "" "likely pathogenic (dominant)" "" "0000871744" "10" "70" "8" "55539174" "55539174" "subst" "0" "00000" "RP1_000139" "g.55539174C>G" "" "Lafont 2011" "" "RP1 c.2732C>G, p.Ser911X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626614C>G" "" "likely pathogenic (dominant)" "" "0000871745" "3" "70" "8" "55537454" "55537454" "subst" "0" "00000" "RP1_000097" "g.55537454C>T" "" "{PMID:Siemiatkowska 2012:23077400}" "" "RP1 c.1012C>T, p.R338*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54624894C>T" "" "likely pathogenic (recessive)" "" "0000871746" "3" "70" "8" "55537454" "55537454" "subst" "0" "00000" "RP1_000097" "g.55537454C>T" "" "{PMID:Siemiatkowska 2012:23077400}" "" "RP1 c.1012C>T, p.R338*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54624894C>T" "" "likely pathogenic (recessive)" "" "0000871747" "3" "70" "8" "55537454" "55537454" "subst" "0" "00000" "RP1_000097" "g.55537454C>T" "" "{PMID:Siemiatkowska 2012:23077400}" "" "RP1 c.1012C>T, p.R338*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54624894C>T" "" "likely pathogenic (recessive)" "" "0000871755" "1" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M1: c.1625C>G, p.Ser542*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871756" "3" "70" "8" "55540531" "55540534" "del" "0" "00000" "RP1_000471" "g.55540531_55540534del" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M3: c.4089 4092delAAGA, p.Arg1364Valfs*8" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627971_54627974del" "" "likely pathogenic (recessive)" "" "0000871757" "3" "70" "8" "55537647" "55537647" "del" "0" "00000" "RP1_000460" "g.55537647del" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M4: c.1205delG, p.Gly402Alafs*7" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625087del" "" "likely pathogenic (recessive)" "" "0000871758" "1" "70" "8" "55538467" "55538467" "dup" "0" "00000" "RP1_000330" "g.55538467dup" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M5: c.2025dupA, p.Ser676Ilefs*22" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625907dup" "" "likely pathogenic (recessive)" "" "0000871759" "3" "70" "8" "55538161" "55538165" "del" "0" "00000" "RP1_000253" "g.55538161_55538165del" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M7: c.1719 1723delCTCAA, p.Ser574Cysfs*7" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625601_54625605del" "" "likely pathogenic (recessive)" "" "0000871760" "3" "70" "8" "55537771" "55537771" "del" "0" "00000" "RP1_000461" "g.55537771del" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M8: c.1329delG, p.Lys443Asnfs*12" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625211del" "" "likely pathogenic (recessive)" "" "0000871761" "3" "70" "8" "55538833" "55538834" "del" "0" "00000" "RP1_000465" "g.55538833_55538834del" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M9: c.2391 2392delAA, p.Asp799*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54626273_54626274del" "" "likely pathogenic (recessive)" "" "0000871762" "2" "70" "8" "55541029" "55541032" "del" "0" "00000" "RP1_000453" "g.55541029_55541032del" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M2: c.4587 4590delTAAG, p.Ser1529Argfs*9" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628469_54628472del" "" "likely pathogenic (recessive)" "" "0000871763" "2" "70" "8" "55538819" "55538819" "del" "0" "00000" "RP1_000454" "g.55538819del" "" "{PMID:El Shamieh 2015:25692139}" "" "RP1; M6: c.2377delA, p.Arg793Glufs*55" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626259del" "" "likely pathogenic (recessive)" "" "0000871773" "3" "70" "8" "55540994" "55540994" "subst" "0" "00000" "RP1_000348" "g.55540994A>T" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.4552A>T, p.K1518*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54628434A>T" "" "likely pathogenic (recessive)" "" "0000871774" "3" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.3428delA, p.N1143Ifs*25" "homozygous" "Unknown" "?" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871775" "3" "70" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.3428delA, p.N1143Ifs*25" "homozygous" "Unknown" "?" "" "0" "" "" "g.54627310del" "" "likely pathogenic (recessive)" "" "0000871776" "3" "70" "8" "55540119" "55540119" "dup" "0" "00000" "RP1_000470" "g.55540119dup" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.3677_3678dupA, p.E1227Mfs*29" "homozygous" "Unknown" "?" "" "0" "" "" "g.54627559dup" "" "likely pathogenic (recessive)" "" "0000871777" "3" "70" "8" "55533619" "55533631" "delins" "0" "00000" "RP1_000131" "g.55533619_55533631delinsAAA" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.93_105del13ins3, p.H31Qfs*47" "homozygous" "Unknown" "?" "" "0" "" "" "g.54621059_54621071delinsAAA" "" "likely pathogenic (recessive)" "" "0000871778" "3" "70" "8" "55533619" "55533631" "delins" "0" "00000" "RP1_000131" "g.55533619_55533631delinsAAA" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.93_105del13ins3, p.H31Qfs*47" "homozygous" "Unknown" "?" "" "0" "" "" "g.54621059_54621071delinsAAA" "" "likely pathogenic (recessive)" "" "0000871779" "3" "70" "8" "55533619" "55533631" "delins" "0" "00000" "RP1_000131" "g.55533619_55533631delinsAAA" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.93_105del13ins3, p.H31Qfs*47" "homozygous" "Unknown" "?" "" "0" "" "" "g.54621059_54621071delinsAAA" "" "likely pathogenic (recessive)" "" "0000871780" "3" "70" "8" "55533995" "55533995" "del" "0" "00000" "RP1_000456" "g.55533995del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.469delG, p.V157Wfs*15" "homozygous" "Unknown" "?" "" "0" "" "" "g.54621435del" "" "likely pathogenic (recessive)" "" "0000871781" "3" "70" "8" "55539860" "55539861" "del" "0" "00000" "RP1_000258" "g.55539860_55539861del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.3418delGG, p.G1140Kfs*4" "homozygous" "Unknown" "?" "" "0" "" "" "g.54627300_54627301del" "" "likely pathogenic (recessive)" "" "0000871782" "3" "70" "8" "55537628" "55537628" "subst" "3.25185E-5" "00000" "RP1_000257" "g.55537628C>T" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1186C>T, p.R326*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625068C>T" "" "likely pathogenic (recessive)" "" "0000871783" "1" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871784" "1" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871785" "3" "70" "8" "55541615" "55541615" "subst" "0" "00000" "RP1_000360" "g.55541615C>T" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.5173C>T, p.Q1725*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54629055C>T" "" "likely pathogenic (recessive)" "" "0000871786" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871787" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871788" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871789" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871790" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871791" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871792" "1" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871793" "3" "70" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.1625C>G, p.S542*" "homozygous" "Unknown" "?" "" "0" "" "" "g.54625507C>G" "" "likely pathogenic (recessive)" "" "0000871794" "3" "70" "8" "55540997" "55540997" "del" "0" "00000" "RP1_000065" "g.55540997del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.4703delA, p.R1519fs*1" "error in annotation: p.R1519fs*1 is actually caused by c.4242_4243del and not c.4141_4142del, homozygous" "Unknown" "?" "" "0" "" "" "g.54628437del" "" "likely pathogenic (recessive)" "" "0000871795" "3" "70" "8" "55541694" "55541694" "del" "0" "00000" "RP1_000067" "g.55541694del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.5400delA, p.N1751fs*3" "error in annotation: variant reference (A) does not agree with reference sequence (C); p.N1751fs*3 is actually caused by c.5252del; homozygous" "Unknown" "?" "" "0" "" "" "g.54629134del" "" "likely pathogenic (recessive)" "" "0000871796" "3" "70" "8" "55541694" "55541694" "del" "0" "00000" "RP1_000067" "g.55541694del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.5400delA, p.N1751fs*3" "error in annotation: variant reference (A) does not agree with reference sequence (C); p.N1751fs*3 is actually caused by c.5252del; homozygous" "Unknown" "?" "" "0" "" "" "g.54629134del" "" "likely pathogenic (recessive)" "" "0000871797" "3" "70" "8" "55534747" "55534747" "del" "0" "00000" "RP1_000003" "g.55534747del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.686delC, p.P229Qfs*35" "homozygous" "Unknown" "?" "" "0" "" "" "g.54622187del" "" "likely pathogenic (recessive)" "" "0000871798" "1" "70" "8" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.368_369dup, p.P124Afs*20" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54621334_54621335dup" "" "likely pathogenic (recessive)" "" "0000871799" "2" "70" "8" "55541246" "55541246" "subst" "1.22034E-5" "00000" "RP1_000350" "g.55541246C>T" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.4804C>T, p.Q1602*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54628686C>T" "" "likely pathogenic (recessive)" "" "0000871800" "2" "70" "8" "55541246" "55541246" "subst" "1.22034E-5" "00000" "RP1_000350" "g.55541246C>T" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.4804C>T, p.Q1602*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54628686C>T" "" "likely pathogenic (recessive)" "" "0000871801" "2" "70" "8" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.366insGC, p.V51Dfs*27" "error in annotation: c.366insGC is actually c.368_369dup; p.P124Afs*20 and not p.V51Dfs*27 is caused by this mutation; heterozygous" "Unknown" "?" "" "0" "" "" "g.54621334_54621335dup" "" "likely pathogenic (recessive)" "" "0000871802" "2" "70" "8" "55540684" "55540685" "del" "0" "00000" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Chassine 2015:25883087}" "" "RP1 c.4141_4142del, p.H1414Qfs*5" "error in annotation: p.H1414Qfs*5 is actually caused by c.4242_4243del and not c.4141_4142del, homozygous" "Unknown" "?" "" "0" "" "" "g.54628124_54628125del" "" "likely pathogenic (recessive)" "" "0000871804" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871805" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871806" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871807" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871808" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871809" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871810" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871811" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871812" "3" "70" "8" "55540139" "55540139" "del" "0" "00000" "RP1_000103" "g.55540139del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.3697delT, p.S1233Pfs22*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627579del" "" "likely pathogenic (recessive)" "" "0000871813" "3" "70" "8" "55534849" "55534849" "subst" "0" "00000" "RP1_000101" "g.55534849G>A" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.787+1G>A, p.I263Nfs8*" "in silico: retention of intron 3 of RP1 - frame shift and eventually a premature stop codon (p.I263Nfs8*); homozygous" "Germline" "yes" "" "0" "" "" "g.54622289G>A" "" "likely pathogenic (recessive)" "" "0000871814" "3" "70" "8" "55534849" "55534849" "subst" "0" "00000" "RP1_000101" "g.55534849G>A" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.787+1G>A, p.I263Nfs8*" "in silico: retention of intron 3 of RP1 - frame shift and eventually a premature stop codon (p.I263Nfs8*); homozygous" "Germline" "yes" "" "0" "" "" "g.54622289G>A" "" "likely pathogenic (recessive)" "" "0000871815" "3" "70" "8" "55534849" "55534849" "subst" "0" "00000" "RP1_000101" "g.55534849G>A" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.787+1G>A, p.I263Nfs8*" "in silico: retention of intron 3 of RP1 - frame shift and eventually a premature stop codon (p.I263Nfs8*); homozygous" "Germline" "yes" "" "0" "" "" "g.54622289G>A" "" "likely pathogenic (recessive)" "" "0000871816" "3" "70" "8" "55534077" "55534078" "dup" "0" "00000" "RP1_000457" "g.55534077_55534078dup" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.551_552dupTA, p.Q185Yfs4*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621517_54621518dup" "" "likely pathogenic (recessive)" "" "0000871817" "3" "70" "8" "55534077" "55534078" "dup" "0" "00000" "RP1_000457" "g.55534077_55534078dup" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.551_552dupTA, p.Q185Yfs4*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621517_54621518dup" "" "likely pathogenic (recessive)" "" "0000871818" "3" "70" "8" "55534077" "55534078" "dup" "0" "00000" "RP1_000457" "g.55534077_55534078dup" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.551_552dupTA, p.Q185Yfs4*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621517_54621518dup" "" "likely pathogenic (recessive)" "" "0000871819" "3" "70" "8" "55534077" "55534078" "dup" "0" "00000" "RP1_000457" "g.55534077_55534078dup" "" "{PMID:Kabir 2016:27307693}" "" "RP1 c.551_552dupTA, p.Q185Yfs4*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621517_54621518dup" "" "likely pathogenic (recessive)" "" "0000871820" "3" "70" "8" "55531690" "55542807" "del" "0" "00000" "RP1_000455" "g.55531690_55542807del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 chr8:55,531,690-55, 542, 807del" "homozygous" "Germline" "yes" "" "0" "" "" "g.54619130_54630247del" "" "likely pathogenic (recessive)" "" "0000871821" "3" "70" "8" "55531690" "55542807" "del" "0" "00000" "RP1_000455" "g.55531690_55542807del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 chr8:55,531,690-55, 542, 807del" "homozygous" "Germline" "yes" "" "0" "" "" "g.54619130_54630247del" "" "likely pathogenic (recessive)" "" "0000871822" "3" "70" "8" "55531690" "55542807" "del" "0" "00000" "RP1_000455" "g.55531690_55542807del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 chr8:55,531,690-55, 542, 807del" "homozygous" "Germline" "yes" "" "0" "" "" "g.54619130_54630247del" "" "likely pathogenic (recessive)" "" "0000871823" "3" "70" "8" "55531690" "55542807" "del" "0" "00000" "RP1_000455" "g.55531690_55542807del" "" "{PMID:Kabir 2016:27307693}" "" "RP1 chr8:55,531,690-55, 542, 807del" "homozygous" "Germline" "yes" "" "0" "" "" "g.54619130_54630247del" "" "likely pathogenic (recessive)" "" "0000871827" "3" "70" "8" "55540611" "55540611" "delins" "0" "00000" "RP1_000472" "g.55540611delinsTG" "" "{PMID:Li 2018:29425069}" "" "RP1 c.4169delinsTG; p.H1390Lfs*6" "homozygous" "Germline" "yes" "" "0" "" "" "g.54628051delinsTG" "" "likely pathogenic (recessive)" "" "0000871828" "3" "70" "8" "55539299" "55539299" "del" "0" "00000" "RP1_000468" "g.55539299del" "" "{PMID:Li 2018:29425069}" "" "RP1 c.2857delT; p.S953Qfs*12" "homozygous" "Germline" "yes" "" "0" "" "" "g.54626739del" "" "likely pathogenic (recessive)" "" "0000871829" "3" "70" "8" "55539299" "55539299" "del" "0" "00000" "RP1_000468" "g.55539299del" "" "{PMID:Li 2018:29425069}" "" "RP1 c.2857delT; p.S953Qfs*12" "homozygous" "Germline" "yes" "" "0" "" "" "g.54626739del" "" "likely pathogenic (recessive)" "" "0000871830" "11" "70" "8" "55538944" "55538944" "subst" "0" "00000" "RP1_000466" "g.55538944T>A" "" "{PMID:Li 2018:29425069}" "" "RP1 c.2502T>A; p.Y834*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626384T>A" "" "likely pathogenic (recessive)" "" "0000871831" "21" "70" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Li 2018:29425069}" "" "RP1 c.5797C>T; p.R1933*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "likely pathogenic (recessive)" "" "0000871832" "3" "70" "8" "55538819" "55538819" "del" "0" "00000" "RP1_000454" "g.55538819del" "" "{PMID:Li 2018:29425069}" "" "RP1 c.2371delA; p. R793Efs*55" "homozygous" "Germline" "yes" "" "0" "" "" "g.54626259del" "" "likely pathogenic (recessive)" "" "0000871833" "3" "70" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Li 2018:29425069}" "" "RP1 c.6179delA; p.I2061Sfs*12" "homozygous" "Germline" "yes" "" "0" "" "" "g.54630063del" "" "likely pathogenic (recessive)" "" "0000871836" "21" "70" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Kurata 2018:30027431}" "" "RP1 c.1498_1499delAT, p.(M500Vfs*7)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625380_54625381del" "" "likely pathogenic (recessive)" "" "0000871837" "11" "70" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Kurata 2018:30027431}" "" "RP1 c.6181delA, p.(I2061Sfs*12)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54630063del" "" "likely pathogenic (recessive)" "" "0000871838" "1" "70" "8" "55538467" "55538467" "dup" "0" "00000" "RP1_000330" "g.55538467dup" "" "{PMID:Starosta 2019:30897647}" "" "RP1 c.2025dupA. [p.Ser676IIefs*22]" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625907dup" "" "likely pathogenic (recessive)" "" "0000871839" "2" "70" "8" "55541547" "55541551" "del" "0" "00000" "RP1_000473" "g.55541547_55541551del" "" "{PMID:Starosta 2019:30897647}" "" "RP1 c.5105_5109delATAAG [p.Asp1702Valfs*2]" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628987_54628991del" "" "likely pathogenic (recessive)" "" "0000871845" "0" "70" "8" "55542188" "55542188" "subst" "0" "00000" "RP1_000225" "g.55542188C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.5746C>T, p.Gln1916*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629628C>T" "" "likely pathogenic (recessive)" "" "0000871846" "0" "70" "8" "55542188" "55542188" "subst" "0" "00000" "RP1_000225" "g.55542188C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.5746C>T, p.Gln1916*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629628C>T" "" "likely pathogenic (recessive)" "" "0000871847" "0" "70" "8" "55542188" "55542188" "subst" "0" "00000" "RP1_000225" "g.55542188C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.5746C>T, p.Gln1916*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629628C>T" "" "likely pathogenic (recessive)" "" "0000871848" "1" "70" "8" "55534065" "55534065" "subst" "8.20412E-6" "00000" "RP1_000132" "g.55534065T>G" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.539T>G, p.Phe180Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621505T>G" "" "likely pathogenic (recessive)" "" "0000871849" "2" "70" "8" "55540684" "55540685" "del" "0" "00000" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.4242_4243del, p.His1414Glnfs*5" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628124_54628125del" "" "likely pathogenic (recessive)" "" "0000871850" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.5797C>T, p.Arg1933*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54629679C>T" "" "likely pathogenic (recessive)" "" "0000871851" "21" "70" "8" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.368_369dup, p.Pro124Alafs*20" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621334_54621335dup" "" "likely pathogenic (recessive)" "" "0000871852" "21" "70" "8" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.368_369dup, p.Pro124Alafs*20" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621334_54621335dup" "" "likely pathogenic (recessive)" "" "0000871853" "11" "70" "8" "55538483" "55538483" "dup" "0" "00000" "RP1_000424" "g.55538483dup" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.2041dup, p.Ile168Asnfs*17" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625923dup" "" "likely pathogenic (recessive)" "" "0000871854" "3" "70" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.1498_1499delAT, p.Met500fs*33" "error in annotation c.1498_1499delAT causes p.Met500Valfs*7 and not p.Met500fs*33, homozygous" "Unknown" "?" "" "0" "" "" "g.54625380_54625381del" "" "likely pathogenic (recessive)" "" "0000871855" "3" "70" "8" "55533894" "55533895" "dup" "0" "00000" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.368_369dup, p.Pro124Alafs*20" "homozygous" "Unknown" "?" "" "0" "" "" "g.54621334_54621335dup" "" "likely pathogenic (recessive)" "" "0000871856" "21" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.2285_2289del, p.Leu762Tyrfs*17" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic (dominant)" "" "0000871857" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.2285_2289del, p.Leu762Tyrfs*17" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic (dominant)" "" "0000871858" "0" "70" "8" "55538727" "55538731" "del" "0" "00000" "RP1_000053" "g.55538727_55538731del" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.2285_2289del, p.Leu762Tyrfs*17" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626167_54626171del" "" "likely pathogenic (dominant)" "" "0000871859" "10" "70" "8" "55539174" "55539174" "subst" "0" "00000" "RP1_000139" "g.55539174C>G" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.2732C>G, p.Ser911*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54626614C>G" "" "likely pathogenic (dominant)" "" "0000871860" "10" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.2029C>T, p.Arg677*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625911C>T" "" "pathogenic (dominant)" "" "0000871861" "20" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.2029C>T, p.Arg677*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.54625911C>T" "" "pathogenic (dominant)" "" "0000871862" "3" "70" "8" "55533597" "55533597" "dup" "0" "00000" "RP1_000130" "g.55533597dup" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.71dup, p.Arg25Serfs*37" "homozygous, mother affected, father - consanguinity, status unknown" "Unknown" "?" "" "0" "" "" "g.54621037dup" "" "likely pathogenic (dominant)" "" "0000871863" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.5797C>T, p.Arg1933*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "likely pathogenic (recessive)" "" "0000871864" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.5797C>T, p.Arg1933*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "likely pathogenic (recessive)" "" "0000871865" "0" "70" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.5797C>T, p.Arg1933*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "likely pathogenic (recessive)" "" "0000871866" "2" "70" "8" "55540684" "55540685" "del" "0" "00000" "RP1_000091" "g.55540684_55540685del" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.4242_4243del, p.His1414Glnfs*5" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628124_54628125del" "" "likely pathogenic (recessive)" "" "0000871867" "1" "70" "8" "55534065" "55534065" "subst" "8.20412E-6" "00000" "RP1_000132" "g.55534065T>G" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.539T>G, p.Phe180Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621505T>G" "" "likely pathogenic (recessive)" "" "0000871868" "0" "70" "8" "55537443" "55537443" "dup" "0" "00000" "RP1_000459" "g.55537443dup" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.1001dupA, p.Glu334fs*22" "error in annotation c.1001dupA causes p.Met335Aspfs*21 (fist affected amino acid rule) and not p.Glu334fs*22, heterozygous" "Unknown" "?" "" "0" "" "" "g.54624883dup" "" "likely pathogenic (recessive)" "" "0000871869" "11" "70" "8" "55534095" "55534095" "subst" "0" "00000" "RP1_000458" "g.55534095T>G" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.569T>G, p.Val190Gly" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621535T>G" "" "likely pathogenic (recessive)" "" "0000871870" "11" "70" "8" "55534095" "55534095" "subst" "0" "00000" "RP1_000458" "g.55534095T>G" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.569T>G, p.Val190Gly" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621535T>G" "" "likely pathogenic (recessive)" "" "0000871871" "21" "70" "8" "55539574" "55539575" "del" "4.06326E-6" "00000" "RP1_000469" "g.55539574_55539575del" "" "{PMID:Verbakel 2019:30913292}" "" "RP1 c.3132_3133del, p.Lys1044Asnfs*16" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627014_54627015del" "" "likely pathogenic (recessive)" "" "0000871937" "0" "70" "8" "55538540" "55538540" "subst" "0" "00000" "RP1_000038" "g.55538540G>T" "" "{PMID:Zhang 2019:31059986}" "" "RP1 c.2098G > T, p.E700X" "heterozygous; cell line experiment" "In vitro (cloned)" "?" "" "0" "" "" "g.54625980G>T" "" "likely pathogenic (recessive)" "" "0000873476" "0" "70" "8" "55537879" "55537879" "subst" "4.06345E-5" "00000" "RP1_000072" "g.55537879G>T" "127" "{PMID:Sun 2018:30076350}" "" "RP1 (NM_006269.1):c.1437G>T(p.M479I)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625319G>T" "" "likely pathogenic" "" "0000881445" "1" "90" "8" "55539395" "55539398" "del" "0" "04405" "RP1_000272" "g.55539395_55539398del" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.54626835_54626838del" "" "pathogenic" "ACMG" "0000888378" "0" "30" "8" "55534814" "55534814" "subst" "0" "02330" "RP1_000475" "g.55534814C>T" "" "" "" "RP1(NM_006269.2):c.753C>T (p.Y251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888379" "0" "50" "8" "55537487" "55537487" "subst" "0" "02330" "RP1_000476" "g.55537487T>A" "" "" "" "RP1(NM_006269.2):c.1045T>A (p.W349R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888380" "0" "50" "8" "55539690" "55539690" "subst" "0" "02327" "RP1_000477" "g.55539690T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888381" "0" "50" "8" "55540031" "55540031" "subst" "0.000223734" "02327" "RP1_000357" "g.55540031A>G" "" "" "" "RP1(NM_006269.2):c.3589A>G (p.(Ser1197Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888382" "0" "50" "8" "55540083" "55540083" "subst" "2.44021E-5" "02327" "RP1_000478" "g.55540083C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888383" "0" "30" "8" "55540573" "55540573" "subst" "0.00104147" "02330" "RP1_000479" "g.55540573C>T" "" "" "" "RP1(NM_006269.2):c.4131C>T (p.D1377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888384" "0" "50" "8" "55541558" "55541558" "subst" "1.21862E-5" "02330" "RP1_000480" "g.55541558G>A" "" "" "" "RP1(NM_006269.2):c.5116G>A (p.V1706I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888385" "0" "50" "8" "55542769" "55542769" "subst" "8.17869E-6" "02327" "RP1_000481" "g.55542769C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896466" "1" "90" "8" "55541246" "55541246" "subst" "1.22034E-5" "00000" "RP1_000350" "g.55541246C>T" "Taiwan Biobank: 0.000330; GnomAD_exome_East: 0.000163; GnomAD_All: 0.0000119" "{PMID:Chen 2021:33608557}" "" "RP1 c.[4804C>T];[4804=]; p.(Gln1602Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628686C>T" "" "pathogenic" "" "0000896606" "1" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.00201; GnomAD_All: 0.000179" "{PMID:Chen 2021:33608557}" "" "RP1 c.[5797C>T];[5797=]; p.(Arg1933Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "" "0000896651" "1" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RP1 c.[2029C>T];[2029=]; p.(Arg677Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "" "0000896721" "1" "90" "8" "55538732" "55538732" "dup" "0" "00000" "RP1_000438" "g.55538732dup" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RP1 c.[2290dupA];[2290=]; p.(Thr764AsnfsTer17)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626172dup" "" "pathogenic" "" "0000902117" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902118" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902119" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902120" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902121" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902122" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902123" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902124" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902125" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902126" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902127" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902128" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902129" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.606C>A (p.Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "" "0000902130" "3" "70" "8" "55533669" "55533669" "del" "0" "00000" "RP1_000484" "g.55533669del" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.143delT (p.Phe48Serfs*33)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621109del" "" "likely pathogenic" "" "0000902131" "20" "70" "8" "55533669" "55533669" "del" "0" "00000" "RP1_000484" "g.55533669del" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.143delT (p.Phe48Serfs*33)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621109del" "" "likely pathogenic" "" "0000902132" "20" "70" "8" "55533669" "55533669" "del" "0" "00000" "RP1_000484" "g.55533669del" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.143delT (p.Phe48Serfs*33)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621109del" "" "likely pathogenic" "" "0000902133" "21" "70" "8" "55533677" "55533677" "dup" "0" "00000" "RP1_000485" "g.55533677dup" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.151dupG (p.Val51Glyfs*11)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621117dup" "" "likely pathogenic" "" "0000902134" "20" "70" "8" "55538423" "55538423" "subst" "0" "00000" "RP1_000172" "g.55538423G>T" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.1981G>T (p.Glu661Ter)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625863G>T" "" "likely pathogenic" "" "0000902135" "21" "70" "8" "55538423" "55538423" "subst" "0" "00000" "RP1_000172" "g.55538423G>T" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.1981G>T (p.Glu661Ter)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625863G>T" "" "likely pathogenic" "" "0000902136" "21" "70" "8" "55538423" "55538423" "subst" "0" "00000" "RP1_000172" "g.55538423G>T" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.1981G>T (p.Glu661Ter)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625863G>T" "" "likely pathogenic" "" "0000902137" "11" "70" "8" "55539861" "55539861" "del" "0" "00000" "RP1_000490" "g.55539861del" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.3419delG (p.Gly1140Glufs*3)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627301del" "" "likely pathogenic" "" "0000902138" "11" "70" "8" "55539861" "55539861" "del" "0" "00000" "RP1_000490" "g.55539861del" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.3419delG (p.Gly1140Glufs*3)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627301del" "" "likely pathogenic" "" "0000902139" "11" "70" "8" "55542323" "55542323" "subst" "4.12786E-6" "00000" "RP1_000291" "g.55542323C>T" "" "{PMID:Riera 2020:31079053}" "" "RP1 c.5881C>T (p.Gln1961Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629763C>T" "" "likely pathogenic" "" "0000902140" "1" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "00000" "RP1_000257" "g.55537628C>T" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.1186 C> T , p.Arg396*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625068C>T" "" "pathogenic" "" "0000902141" "3" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.1625C >G , p.Ser542*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000902142" "3" "90" "8" "55540285" "55540285" "del" "0" "00000" "RP1_000141" "g.55540285del" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.3843delT , p.Pro1282Leufs*12" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627725del" "" "pathogenic" "" "0000902143" "3" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.1625C>G , p.Ser542*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000902144" "1" "90" "8" "55533995" "55533995" "del" "0" "00000" "RP1_000456" "g.55533995del" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.469delG , p.Val157Trpfs*16" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621435del" "" "pathogenic" "" "0000902145" "3" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "00000" "RP1_000257" "g.55537628C>T" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.1186 C >T , p.Arg396*" "homozygous" "Germline" "yes" "" "0" "" "" "g.54625068C>T" "" "pathogenic" "" "0000902146" "1" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "00000" "RP1_000257" "g.55537628C>T" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.1186 C >T , p.Arg396*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625068C>T" "" "pathogenic" "" "0000902147" "2" "90" "8" "55537707" "55537707" "dup" "0" "00000" "RP1_000488" "g.55537707dup" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.1265dupC , p.Ala423Cysfs*2" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625147dup" "" "pathogenic" "" "0000902148" "2" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00000" "RP1_000098" "g.55538067C>G" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.1625C>G , p.Ser542*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "" "0000902149" "2" "90" "8" "55537676" "55537676" "dup" "0" "00000" "RP1_000385" "g.55537676dup" "" "{PMID:Silva 2020:32005865}" "" "RP1 c.1234dupA , p.Met412Asnfs*7" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625116dup" "" "pathogenic" "" "0000902151" "2" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.4052_4053ins328, p.Tyr1352Alafs" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902152" "2" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.4052_4053ins328, p.Tyr1352Alafs" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902153" "2" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.4052_4053ins328, p.Tyr1352Alafs" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902154" "2" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.4052_4053ins328, p.Tyr1352Alafs" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902155" "2" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.4052_4053ins328, p.Tyr1352Alafs" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902156" "1" "90" "8" "55542247" "55542247" "dup" "0" "00000" "RP1_000344" "g.55542247dup" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.5805dup, p.(Ala1936Cysfs*7)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54629687dup" "" "pathogenic (recessive)" "" "0000902157" "1" "90" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.1498_1499del, p.(Met500Valfs*7)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625380_54625381del" "" "pathogenic (recessive)" "" "0000902158" "1" "90" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.1498_1499del, p.(Met500Valfs*7)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625380_54625381del" "" "pathogenic (recessive)" "" "0000902159" "1" "90" "8" "55540111" "55540111" "subst" "0" "00000" "RP1_000191" "g.55540111C>A" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.3669C>A, p.(Cys1223*)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627551C>A" "" "pathogenic (recessive)" "" "0000902160" "1" "90" "8" "55542623" "55542623" "del" "0" "00000" "RP1_000343" "g.55542623del" "" "{PMID:Nishiguchi 2020:32193659}" "" "RP1 c.6181del, p.(Ile2061Serfs*12)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54630063del" "" "pathogenic (recessive)" "" "0000902161" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.606C>A, p.(Asp202Glu)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "ACMG" "0000902162" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.606C>A, p.(Asp202Glu)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "ACMG" "0000902163" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.606C>A, p.(Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "ACMG" "0000902164" "3" "70" "8" "55534132" "55534132" "subst" "0" "00000" "RP1_000040" "g.55534132C>A" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.606C>A, p.(Asp202Glu)" "homozygous" "Germline" "yes" "" "0" "" "" "g.54621572C>A" "" "likely pathogenic" "ACMG" "0000902165" "1" "70" "8" "55533652" "55533652" "subst" "0" "00000" "RP1_000482" "g.55533652G>A" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.126G>A, p.(Lys42Asn)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621092G>A" "" "likely pathogenic" "ACMG" "0000902166" "3" "90" "8" "55537904" "55537904" "del" "0" "00000" "RP1_000297" "g.55537904del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.1462delG, p.(Glu488Lysfs*44)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625344del" "" "pathogenic" "ACMG" "0000902167" "3" "90" "8" "55539870" "55539870" "del" "0" "00000" "RP1_000307" "g.55539870del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.3428delA, p.(Asn1143Ilefs*25)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627310del" "" "pathogenic" "ACMG" "0000902168" "3" "70" "8" "55541230" "55541230" "del" "0" "00000" "RP1_000495" "g.55541230del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.4788delT, p.(Asp1597Thrfs*29)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54628670del" "" "likely pathogenic" "ACMG" "0000902169" "0" "70" "8" "55534729" "55534729" "del" "0" "00000" "RP1_000276" "g.55534729del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.668del, p.(Gly223Glufs*41)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54622169del" "" "likely pathogenic" "ACMG" "0000902170" "1" "70" "8" "55534729" "55534729" "del" "0" "00000" "RP1_000276" "g.55534729del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.668del, p.(Gly223Glufs*41)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54622169del" "" "likely pathogenic" "ACMG" "0000902171" "1" "90" "8" "55537676" "55537676" "dup" "0" "00000" "RP1_000385" "g.55537676dup" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.1234dupA, p.(Met412Asnfs*7)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625116dup" "" "pathogenic" "ACMG" "0000902172" "1" "70" "8" "55534017" "55534017" "subst" "4.10398E-5" "00000" "RP1_000431" "g.55534017C>G" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.491C>G, p.(Pro164Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621457C>G" "" "likely pathogenic" "ACMG" "0000902173" "0" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.515T>G, p.(Leu172Arg)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "ACMG" "0000902174" "3" "70" "8" "55541459" "55541459" "del" "0" "00000" "RP1_000411" "g.55541459del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.5017delC, p.(Tyr1673Metfs*37)" "error in annotation, the deleted nucleotide should be T; homozygous" "Germline" "yes" "" "0" "" "" "g.54628899del" "" "likely pathogenic" "ACMG" "0000902175" "1" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.515T>G, p.(Leu172Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "ACMG" "0000902176" "1" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.515T>G, p.(Leu172Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "ACMG" "0000902177" "1" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.515T>G, p.(Leu172Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "ACMG" "0000902178" "0" "70" "8" "55533665" "55533665" "dup" "0" "00000" "RP1_000483" "g.55533665dup" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.139dup, p.(Gln47Profs*15)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621105dup" "" "likely pathogenic" "ACMG" "0000902179" "0" "70" "8" "55533647" "55533647" "subst" "4.8727E-5" "00000" "RP1_000273" "g.55533647T>C" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.121T>C, p.(Tyr41His)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621087T>C" "" "likely pathogenic" "ACMG" "0000902180" "2" "70" "8" "55533838" "55533841" "del" "0" "00000" "RP1_000486" "g.55533838_55533841del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.312_315delCCTA, p.(Leu105Valfs*10)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54621278_54621281del" "" "likely pathogenic" "ACMG" "0000902181" "0" "90" "8" "55537568" "55537568" "subst" "1.62536E-5" "00000" "RP1_000102" "g.55537568C>T" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.1126C>T, p.(Arg376*)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54625008C>T" "" "pathogenic" "ACMG" "0000902182" "2" "70" "8" "55537910" "55537910" "subst" "2.84396E-5" "00000" "RP1_000402" "g.55537910G>T" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.1468G>T, p.(Glu490*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625350G>T" "" "likely pathogenic" "ACMG" "0000902183" "2" "70" "8" "55540613" "55540613" "del" "0" "00000" "RP1_000492" "g.55540613del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.4171delC, p.(Gln1391Lysfs*7)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628053del" "" "likely pathogenic" "ACMG" "0000902184" "2" "70" "8" "55537641" "55537642" "del" "0" "00000" "RP1_000487" "g.55537641_55537642del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.1199_1200del, p.(Gln400Argfs*18)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625081_54625082del" "" "likely pathogenic" "ACMG" "0000902185" "0" "90" "8" "55539599" "55539599" "del" "0" "00000" "RP1_000063" "g.55539599del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.3155delT, p.(Tyr1053Thrfs*4)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627039del" "" "pathogenic" "ACMG" "0000902186" "2" "90" "8" "55541024" "55541027" "del" "0" "00000" "RP1_000323" "g.55541024_55541027del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.4582_4585delATCA, p.(Ile1528Valfs*10)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628464_54628467del" "" "pathogenic" "ACMG" "0000902187" "2" "90" "8" "55541024" "55541027" "del" "0" "00000" "RP1_000323" "g.55541024_55541027del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.4582_4585delATCA, p.(Ile1528Valfs*10)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628464_54628467del" "" "pathogenic" "ACMG" "0000902188" "2" "90" "8" "55538040" "55538043" "del" "0" "00000" "RP1_000298" "g.55538040_55538043del" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.1598_1601del, p.(Arg533Lysfs*12)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54625480_54625483del" "" "pathogenic" "ACMG" "0000902189" "0" "90" "8" "55541690" "55541690" "subst" "0" "00000" "RP1_000361" "g.55541690G>T" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.5248G>T, p.(Glu1750*)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54629130G>T" "" "pathogenic" "ACMG" "0000902190" "0" "70" "8" "55534041" "55534041" "subst" "0.000106668" "00000" "RP1_000093" "g.55534041T>G" "" "{PMID:Huckfeldt 2020:32565670}" "" "RP1 c.515T>G, p.(Leu172Arg)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54621481T>G" "" "likely pathogenic" "ACMG" "0000902207" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*10" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902208" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*11" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902209" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*12" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902210" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*13" "homozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902211" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902212" "21" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902213" "21" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902214" "10" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902215" "10" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "" "0000902216" "10" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4196delG/p.Cys1399Leufs*5" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628078del" "" "pathogenic (recessive)" "" "0000902217" "10" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4196delG/p.Cys1399Leufs*6" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628078del" "" "pathogenic (recessive)" "" "0000902218" "21" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4196delG/p.Cys1399Leufs*7" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628078del" "" "pathogenic (recessive)" "" "0000902219" "21" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Ueno 2020:32627106}" "" "RP1 c.4196delG/p.Cys1399Leufs*8" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628078del" "" "pathogenic (recessive)" "" "0000902228" "11" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Won 2021:34183725}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "ACMG" "0000902229" "21" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Won 2021:34183725}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "ACMG" "0000902230" "0" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Won 2021:34183725}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "ACMG" "0000902231" "10" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Won 2021:34183725}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "ACMG" "0000902232" "21" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Won 2021:34183725}" "" "RP1 c.4052_4053ins328/p.Tyr1352Alafs*14" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic (recessive)" "ACMG" "0000902233" "21" "90" "8" "55541024" "55541027" "del" "0" "00000" "RP1_000323" "g.55541024_55541027del" "" "{PMID:Won 2021:34183725}" "" "RP1 c.4582_4585del, p.(Ile1528Valfs*10)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628464_54628467del" "" "pathogenic (recessive)" "ACMG" "0000902234" "11" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Won 2021:34183725}" "" "RP1 c.5797C > T, p.(Arg1933*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "VUS" "" "0000902235" "0" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Won 2021:34183725}" "" "RP1 c.5797C > T, p.(Arg1933*)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54629679C>T" "" "VUS" "" "0000902236" "21" "50" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Won 2021:34183725}" "" "RP1 c.5797C > T, p.(Arg1933*)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "VUS" "" "0000902237" "11" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Won 2021:34183725}" "" "RP1 c.4196del, p.(Cys1399Leufs*5)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54628078del" "" "pathogenic (recessive)" "ACMG" "0000902283" "10" "90" "8" "55538471" "55538471" "subst" "0" "00000" "RP1_000068" "g.55538471C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2029C>T, (p.Arg677Ter)" "heterozygous" "Germline" "yes" "rs104894082" "0" "" "" "g.54625911C>T" "" "pathogenic" "ACMG" "0000902284" "20" "70" "8" "55539041" "55539041" "subst" "0" "00000" "RP1_000180" "g.55539041A>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2599A>T, (p.Lys867Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626481A>T" "" "likely pathogenic" "ACMG" "0000902285" "10" "70" "8" "55538999" "55538999" "subst" "0" "00000" "RP1_000489" "g.55538999A>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2557A>T, (p.Lys853Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.54626439A>T" "" "likely pathogenic" "ACMG" "0000902286" "0" "70" "8" "55539055" "55539055" "dup" "0" "00000" "RP1_000060" "g.55539055dup" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2613dupA, (p.Arg872ThrfsTer2)" "heterozygous" "Germline/De novo (untested)" "yes" "rs1449723475" "0" "" "" "g.54626495dup" "" "likely pathogenic" "ACMG" "0000902287" "21" "70" "8" "55538474" "55538474" "subst" "4.07037E-6" "00000" "RP1_000173" "g.55538474C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2032C>T, (p.Gln678Ter)" "heterozygous" "Germline" "yes" "rs878853328" "0" "" "" "g.54625914C>T" "" "likely pathogenic" "ACMG" "0000902288" "11" "70" "8" "55533999" "55533999" "subst" "0" "00000" "RP1_000328" "g.55533999T>G" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.473T>G, (p.Val158Gly)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54621439T>G" "" "likely pathogenic" "ACMG" "0000902289" "1" "90" "8" "55538467" "55538467" "dup" "0" "00000" "RP1_000330" "g.55538467dup" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2020dupA, (p.Ser676IlefsTer22)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54625907dup" "" "pathogenic" "ACMG" "0000902290" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "homozygous" "Germline" "yes" "rs775253277" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902291" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "homozygous" "Germline" "yes" "rs775253277" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902292" "10" "90" "8" "55540111" "55540111" "subst" "0" "00000" "RP1_000191" "g.55540111C>A" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.3669C>A, (p.Cys1223Ter)" "compound heterozygous" "Germline" "yes" "rs765129639" "0" "" "" "g.54627551C>A" "" "pathogenic" "ACMG" "0000902293" "10" "90" "8" "55540111" "55540111" "subst" "0" "00000" "RP1_000191" "g.55540111C>A" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.3669C>A, (p.Cys1223Ter)" "compound heterozygous" "Germline" "yes" "rs765129639" "0" "" "" "g.54627551C>A" "" "pathogenic" "ACMG" "0000902294" "21" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "compound heterozygous" "Germline" "yes" "rs775253277" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902295" "3" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4196delG, (p.Cys1399LeufsTer5)" "homozygous" "Germline" "yes" "rs762951570" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000902296" "11" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4196delG, (p.Cys1399LeufsTer5)" "compound heterozygous" "Germline" "yes" "rs762951570" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000902297" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "homozygous" "Germline" "yes" "rs775253277" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902298" "3" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "homozygous" "Germline" "yes" "rs775253277" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902299" "10" "90" "8" "55540285" "55540285" "dup" "0" "00000" "RP1_000491" "g.55540285dup" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.3843dupT, (p.Pro1282SerfsTer2)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54627725dup" "" "pathogenic" "ACMG" "0000902300" "21" "90" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.1498_1499delAT, (p.Met500ValfsTer7)" "compound heterozygous" "Germline" "yes" "rs765129639" "0" "" "" "g.54625380_54625381del" "" "pathogenic" "ACMG" "0000902301" "10" "50" "8" "55533918" "55533918" "subst" "1.66707E-5" "00000" "RP1_000156" "g.55533918G>A" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.392G>A, (p.Arg131Gln)" "compound heterozygous" "Germline" "yes" "rs752150870" "0" "" "" "g.54621358G>A" "" "VUS" "ACMG" "0000902302" "21" "90" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.1498_1499delAT, (p.Met500ValfsTer7)" "compound heterozygous" "Germline" "yes" "rs765129639" "0" "" "" "g.54625380_54625381del" "" "pathogenic" "ACMG" "0000902303" "1" "90" "8" "55537940" "55537941" "del" "1.62573E-5" "00000" "RP1_000169" "g.55537940_55537941del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.1498_1499delAT, (p.Met500ValfsTer7)" "compound heterozygous" "Germline" "yes" "rs765129639" "0" "" "" "g.54625380_54625381del" "" "pathogenic" "ACMG" "0000902304" "10" "90" "8" "55538819" "55538819" "del" "0" "00000" "RP1_000454" "g.55538819del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2377delA, (p.Arg793GlufsTer55)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54626259del" "" "pathogenic" "ACMG" "0000902305" "11" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "compound heterozygous" "Germline" "yes" "rs775253277" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902306" "20" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902307" "1" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902308" "0" "30" "8" "55542355" "55542355" "subst" "4.09527E-6" "00000" "RP1_000200" "g.55542355C>A" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.5913C>A, (p.Asn197lLys)" "heterozygous" "Germline/De novo (untested)" "yes" "rs754290174" "0" "" "" "g.54629795C>A" "" "likely benign" "ACMG" "0000902309" "0" "70" "8" "55538474" "55538474" "subst" "4.07037E-6" "00000" "RP1_000173" "g.55538474C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2032C>T, (p.Gln678Ter)" "heterozygous" "Germline/De novo (untested)" "yes" "rs878853328" "0" "" "" "g.54625914C>T" "" "likely pathogenic" "ACMG" "0000902310" "20" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "compound heterozygous" "Germline" "yes" "rs775253277" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902311" "2" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "compound heterozygous" "Germline" "yes" "rs775253277" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902312" "21" "90" "8" "55540842" "55540842" "del" "0" "00000" "RP1_000493" "g.55540842del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4400delC, (p.Ser1467PhefsTer5)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54628282del" "" "pathogenic" "ACMG" "0000902313" "21" "90" "8" "55540842" "55540842" "del" "0" "00000" "RP1_000493" "g.55540842del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4400delC, (p.Ser1467PhefsTer5)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54628282del" "" "pathogenic" "ACMG" "0000902314" "11" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00000" "RP1_000256" "g.55540638del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4196delG, (p.Cys1399LeufsTer5)" "compound heterozygous" "Germline" "yes" "rs762951570" "0" "" "" "g.54628078del" "" "pathogenic" "ACMG" "0000902315" "21" "90" "8" "55541033" "55541034" "del" "0" "00000" "RP1_000494" "g.55541033_55541034del" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4591_4592delAG, (p.Arg1531AlafsTer12)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54628473_54628474del" "" "pathogenic" "ACMG" "0000902316" "21" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902318" "10" "90" "8" "55540494" "55540495" "ins" "0" "00000" "RP1_000255" "g.55540494_55540495insN[328]" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.4052_4053ins328, (p.Tyr1352AlafsTer9)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54627934_54627935insN[328]" "" "pathogenic" "ACMG" "0000902319" "21" "50" "8" "55538558" "55538558" "subst" "0.000325362" "00000" "RP1_000009" "g.55538558G>C" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.2116G>C, (p.Gly706Arg)" "compound heterozygous" "Germline" "yes" "rs199879316" "0" "" "" "g.54625998G>C" "" "VUS" "ACMG" "0000902320" "11" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.5797C>T, (p.Arg1933Ter)" "compound heterozygous" "Germline" "yes" "rs199879316" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000902321" "2" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.5797C>T, (p.Arg1933Ter)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000902322" "21" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.5797C>T, (p.Arg1933Ter)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000902323" "21" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.5797C>T, (p.Arg1933Ter)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000902324" "11" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.5797C>T, (p.Arg1933Ter)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000902325" "2" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00000" "RP1_000018" "g.55542239C>T" "" "{PMID:Mizobuchi 2021:34073704}" "" "RP1 c.5797C>T, (p.Arg1933Ter)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000905965" "0" "50" "8" "55540388" "55540389" "delins" "0" "00000" "RP1_000496" "g.55540388_55540389delinsTT" "" "{PMID:Zhu 2022:35456422}" "" "RP1 c.3946_3947delinsTT, p.(Ala1316Phe)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.54627828_54627829delinsTT" "" "VUS" "ACMG" "0000915795" "3" "70" "8" "55538043" "55538046" "del" "0" "04436" "RP1_000502" "g.55538043_55538046del" "" "{PMID:Panneman 2023:36819107}" "" "c.1601_1604del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915814" "1" "70" "8" "55534041" "55534041" "subst" "0.000106668" "04436" "RP1_000093" "g.55534041T>G" "" "{PMID:Panneman 2023:36819107}" "" "c.515T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915815" "2" "90" "8" "55542623" "55542623" "del" "0" "04436" "RP1_000343" "g.55542623del" "" "{PMID:Panneman 2023:36819107}" "" "c.6181del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915830" "1" "90" "8" "55537910" "55537910" "subst" "2.84396E-5" "04436" "RP1_000402" "g.55537910G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1468G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915831" "2" "70" "8" "55539908" "55539908" "subst" "3.65747E-5" "04436" "RP1_000504" "g.55539908A>T" "" "{PMID:Panneman 2023:36819107}" "" "c.3466A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915873" "1" "50" "8" "55533932" "55533932" "subst" "0" "04436" "RP1_000157" "g.55533932C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.406C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000915874" "2" "90" "8" "55542239" "55542239" "subst" "0.000187423" "04436" "RP1_000018" "g.55542239C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.5797C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915875" "1" "70" "8" "55537862" "55541361" "del" "0" "04436" "RP1_000501" "g.55537862_55541361del" "" "{PMID:Panneman 2023:36819107}" "" "c.1420_4919del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915876" "2" "90" "8" "55542239" "55542239" "subst" "0.000187423" "04436" "RP1_000018" "g.55542239C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.5797C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915932" "0" "90" "8" "55538661" "55538661" "subst" "0" "04436" "RP1_000174" "g.55538661C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.2219C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915936" "3" "90" "8" "55542239" "55542239" "subst" "0.000187423" "04436" "RP1_000018" "g.55542239C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.5797C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915965" "1" "90" "8" "0" "0" "" "0" "04436" "RP1_000000" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(-11-?)_(*124+?)del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915966" "2" "90" "8" "55540239" "55540239" "del" "0" "04436" "RP1_000505" "g.55540239del" "" "{PMID:Panneman 2023:36819107}" "" "c.3797del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915984" "0" "90" "8" "55538471" "55538471" "subst" "0" "04436" "RP1_000068" "g.55538471C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.2029C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916007" "0" "90" "8" "55538471" "55538471" "subst" "0" "04436" "RP1_000068" "g.55538471C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.2029C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916013" "0" "90" "8" "55538614" "55538627" "del" "0" "04436" "RP1_000045" "g.55538614_55538627del" "" "{PMID:Panneman 2023:36819107}" "" "c.2172_2185del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916035" "0" "70" "8" "55538893" "55538894" "del" "0" "04436" "RP1_000503" "g.55538893_55538894del" "" "{PMID:Panneman 2023:36819107}" "" "c.2451_2452del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916036" "0" "90" "8" "55539055" "55539055" "dup" "0" "04436" "RP1_000060" "g.55539055dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2613dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916073" "1" "90" "8" "55534729" "55534729" "del" "0" "04436" "RP1_000276" "g.55534729del" "" "{PMID:Panneman 2023:36819107}" "" "c.668del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916074" "2" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "04436" "RP1_000257" "g.55537628C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1186C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916220" "1" "70" "8" "55537625" "55537625" "subst" "0" "04436" "RP1_000500" "g.55537625G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1183G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916221" "2" "70" "8" "55542003" "55542009" "del" "0" "04436" "RP1_000509" "g.55542003_55542009del" "" "{PMID:Panneman 2023:36819107}" "" "c.5561_5567del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916318" "3" "50" "8" "55542195" "55542195" "subst" "0" "04436" "RP1_000510" "g.55542195G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.5753G>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916397" "3" "90" "8" "55533894" "55533895" "dup" "0" "04436" "RP1_000090" "g.55533894_55533895dup" "" "{PMID:Panneman 2023:36819107}" "" "c.368_369dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916400" "0" "90" "8" "55539599" "55539599" "del" "0" "04436" "RP1_000063" "g.55539599del" "" "{PMID:Panneman 2023:36819107}" "" "c.3157del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916422" "0" "90" "8" "55539599" "55539599" "del" "0" "04436" "RP1_000063" "g.55539599del" "" "{PMID:Panneman 2023:36819107}" "" "c.3157del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916434" "3" "90" "8" "55537676" "55537676" "dup" "0" "04436" "RP1_000385" "g.55537676dup" "" "{PMID:Panneman 2023:36819107}" "" "c.1234dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916437" "1" "70" "8" "55539049" "55539049" "dup" "0" "04436" "RP1_000181" "g.55539049dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2607dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916438" "2" "50" "8" "55540915" "55540915" "subst" "5.30448E-5" "04436" "RP1_000507" "g.55540915A>C" "" "{PMID:Panneman 2023:36819107}" "" "c.4473A>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916531" "3" "70" "8" "55537407" "55537407" "subst" "4.07973E-6" "04436" "RP1_000499" "g.55537407C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.965C>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916547" "3" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "04436" "RP1_000098" "g.55538067C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.1625C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916591" "1" "70" "8" "55533816" "55533817" "del" "0" "04436" "RP1_000497" "g.55533816_55533817del" "" "{PMID:Panneman 2023:36819107}" "" "c.290_291del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916592" "2" "90" "8" "55534143" "55534143" "subst" "4.10462E-6" "04436" "RP1_000498" "g.55534143T>A" "" "{PMID:Panneman 2023:36819107}" "" "c.615+2T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916615" "3" "70" "8" "55541339" "55541339" "subst" "0" "04436" "RP1_000508" "g.55541339G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.4897G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916616" "3" "90" "8" "55534143" "55534143" "subst" "4.10462E-6" "04436" "RP1_000498" "g.55534143T>A" "" "{PMID:Panneman 2023:36819107}" "" "c.615+2T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916651" "1" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "04436" "RP1_000257" "g.55537628C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1186C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916652" "2" "90" "8" "55540536" "55540536" "del" "0" "04436" "RP1_000506" "g.55540536del" "" "{PMID:Panneman 2023:36819107}" "" "c.4094del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916689" "3" "90" "8" "55538161" "55538165" "del" "0" "04436" "RP1_000253" "g.55538161_55538165del" "" "{PMID:Panneman 2023:36819107}" "" "c.1719_1723del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916720" "0" "90" "8" "55538471" "55538471" "subst" "0" "04436" "RP1_000068" "g.55538471C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.2029C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000924883" "0" "50" "8" "55539855" "55539855" "subst" "1.21952E-5" "02327" "RP1_000511" "g.55539855T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949085" "0" "90" "8" "55538872" "55538872" "subst" "0" "02327" "RP1_000118" "g.55538872C>A" "" "" "" "RP1(NM_006269.1):c.2430C>A (p.C810*), RP1(NM_006269.2):c.2430C>A (p.C810*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949086" "0" "90" "8" "55539443" "55539443" "subst" "0" "02327" "RP1_000512" "g.55539443G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949087" "0" "50" "8" "55539816" "55539816" "subst" "3.25529E-5" "02327" "RP1_000513" "g.55539816C>A" "" "" "" "RP1(NM_006269.1):c.3374C>A (p.(Ser1125Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949088" "0" "50" "8" "55540427" "55540427" "subst" "0" "02330" "RP1_000126" "g.55540427A>G" "" "" "" "RP1(NM_006269.1):c.3985A>G (p.(Ile1329Val)), RP1(NM_006269.2):c.3985A>G (p.I1329V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949089" "0" "30" "8" "55541738" "55541738" "subst" "0.000365625" "02330" "RP1_000259" "g.55541738A>C" "" "" "" "RP1(NM_006269.1):c.5296A>C (p.N1766H), RP1(NM_006269.2):c.5296A>C (p.N1766H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949090" "0" "70" "8" "55542404" "55542404" "dup" "0" "02327" "RP1_000283" "g.55542404dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949091" "0" "50" "8" "55612050" "55612050" "subst" "0" "02327" "RP1_000514" "g.55612050A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954068" "0" "90" "8" "55540638" "55540638" "del" "4.06875E-6" "00006" "RP1_000256" "g.55540638del" "" "{PMID:Moon 2021:35052368}" "" "4196delG" "" "Germline" "" "" "0" "" "" "g.54628078del" "" "pathogenic" "" "0000954087" "0" "90" "8" "55542623" "55542623" "del" "0" "00006" "RP1_000343" "g.55542623del" "" "{PMID:Moon 2021:35052368}" "" "6181delA" "" "Germline" "" "" "0" "" "" "g.54630063del" "" "pathogenic" "" "0000955420" "3" "90" "8" "55541768" "55541768" "del" "0" "04627" "RP1_000515" "g.55541768del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.54629208del" "" "likely pathogenic (recessive)" "ACMG" "0000957999" "0" "90" "8" "55538774" "55538774" "subst" "0" "00006" "RP1_000056" "g.55538774A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.54626214A>T" "845845" "pathogenic" "ACMG" "0000958000" "0" "90" "8" "55538603" "55538603" "del" "0" "00006" "RP1_000304" "g.55538603del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.54626043del" "810288" "pathogenic" "ACMG" "0000958001" "0" "90" "8" "55538603" "55538603" "del" "0" "00006" "RP1_000304" "g.55538603del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.54626043del" "810288" "pathogenic" "ACMG" "0000958025" "0" "90" "8" "55538774" "55538774" "subst" "0" "00006" "RP1_000056" "g.55538774A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.54626214A>T" "" "pathogenic" "ACMG" "0000958060" "3" "70" "8" "55534133" "55534133" "subst" "0" "00006" "RP1_000245" "g.55534133G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.54621573G>A" "" "likely pathogenic" "ACMG" "0000958079" "3" "90" "8" "55538794" "55538798" "del" "0" "00006" "RP1_000521" "g.55538794_55538798del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.54626234_54626238del" "1070812" "pathogenic" "ACMG" "0000958318" "0" "90" "8" "55538603" "55538603" "del" "0" "00006" "RP1_000304" "g.55538603del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.54626043del" "810288" "pathogenic" "ACMG" "0000958340" "0" "90" "8" "55538471" "55538471" "subst" "0" "00006" "RP1_000068" "g.55538471C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG, PS4_MODERATE" "Germline/De novo (untested)" "" "" "0" "" "" "g.54625911C>T" "" "pathogenic" "ACMG" "0000958352" "0" "90" "8" "55533797" "55533797" "del" "0" "00006" "RP1_000516" "g.55533797del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.54621237del" "" "pathogenic" "ACMG" "0000958364" "0" "90" "8" "55538417" "55538417" "subst" "0" "00006" "RP1_000249" "g.55538417A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.54625857A>T" "" "pathogenic" "ACMG" "0000958369" "0" "90" "8" "55538816" "55538816" "subst" "0" "00006" "RP1_000138" "g.55538816A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.54626256A>T" "853663" "pathogenic" "ACMG" "0000958433" "0" "50" "8" "55540525" "55540525" "subst" "0" "00006" "RP1_000523" "g.55540525G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54627965G>T" "" "VUS" "ACMG" "0000958435" "0" "50" "8" "55540525" "55540525" "subst" "0" "00006" "RP1_000523" "g.55540525G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54627965G>T" "" "VUS" "ACMG" "0000958458" "0" "50" "8" "55542667" "55542667" "subst" "4.06967E-6" "00006" "RP1_000526" "g.55542667A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54630107A>C" "" "VUS" "ACMG" "0000958464" "0" "50" "8" "55537966" "55537966" "subst" "0" "00006" "RP1_000519" "g.55537966G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54625406G>A" "" "VUS" "ACMG" "0000958469" "0" "50" "8" "55542507" "55542507" "subst" "0" "00006" "RP1_000525" "g.55542507A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.54629947A>G" "" "VUS" "ACMG" "0000958637" "0" "90" "8" "55539599" "55539599" "del" "0" "00006" "RP1_000063" "g.55539599del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.54627039del" "987374" "pathogenic" "ACMG" "0000958926" "0" "50" "8" "55541412" "55541412" "subst" "3.25095E-5" "00006" "RP1_000222" "g.55541412G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.54628852G>T" "" "VUS" "ACMG" "0000958993" "0" "50" "8" "55537869" "55537869" "subst" "0" "00006" "RP1_000518" "g.55537869A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.54625309A>C" "" "VUS" "ACMG" "0000959057" "0" "50" "8" "55533893" "55533893" "subst" "8.29215E-6" "00006" "RP1_000517" "g.55533893C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.54621333C>T" "" "VUS" "ACMG" "0000959260" "1" "50" "8" "55534713" "55534713" "subst" "0.000300505" "00006" "RP1_000070" "g.55534713G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BS2_SUPPORTING" "Germline" "" "" "0" "" "" "g.54622153G>A" "" "VUS" "ACMG" "0000959310" "0" "70" "8" "55542267" "55542267" "del" "0" "00006" "RP1_000524" "g.55542267del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2 PVS1" "Germline" "" "" "0" "" "" "g.54629707del" "" "likely pathogenic" "ACMG" "0000959311" "0" "50" "8" "55534065" "55534065" "subst" "8.20412E-6" "00006" "RP1_000132" "g.55534065T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.54621505T>G" "" "VUS" "ACMG" "0000959328" "0" "50" "8" "55539543" "55539543" "subst" "0.000146288" "00006" "RP1_000374" "g.55539543A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54626983A>T" "" "VUS" "ACMG" "0000959329" "0" "50" "8" "55539800" "55539800" "subst" "4.07143E-6" "00006" "RP1_000522" "g.55539800G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54627240G>C" "" "VUS" "ACMG" "0000959330" "0" "50" "8" "55542247" "55542247" "subst" "0.000146642" "00006" "RP1_000021" "g.55542247T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.54629687T>G" "" "VUS" "ACMG" "0000959363" "0" "50" "8" "55538453" "55538453" "subst" "2.85407E-5" "00006" "RP1_000212" "g.55538453A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.54625893A>C" "" "VUS" "ACMG" "0000959407" "0" "50" "8" "55538666" "55538666" "subst" "0" "00006" "RP1_000520" "g.55538666A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54626106A>T" "" "VUS" "ACMG" "0000959413" "0" "50" "8" "55539543" "55539543" "subst" "0.000146288" "00006" "RP1_000374" "g.55539543A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.54626983A>T" "" "VUS" "ACMG" "0000959414" "0" "50" "8" "55542247" "55542247" "subst" "0.000146642" "00006" "RP1_000021" "g.55542247T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.54629687T>G" "" "VUS" "ACMG" "0000978228" "0" "50" "8" "55537437" "55537437" "subst" "0" "01804" "RP1_000527" "g.55537437C>G" "" "" "" "RP1(NM_006269.2):c.995C>G (p.(Thr332Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978229" "0" "50" "8" "55542749" "55542749" "del" "0" "01804" "RP1_000528" "g.55542749del" "" "" "" "RP1(NM_006269.2):c.6307del (p.(Ala2103LeufsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985487" "3" "90" "8" "55537628" "55537628" "subst" "3.25185E-5" "02230" "RP1_000257" "g.55537628C>T" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.54625068C>T" "" "pathogenic (recessive)" "" "0000986565" "1" "50" "8" "55539543" "55539543" "subst" "0.000146288" "04405" "RP1_000374" "g.55539543A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.54626983A>T" "" "VUS" "ACMG" "0000986566" "1" "70" "8" "55533799" "55533799" "del" "0" "04405" "RP1_000529" "g.55533799del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.54621239del" "" "likely pathogenic" "ACMG" "0000986955" "2" "50" "8" "55542247" "55542247" "subst" "0.000146642" "04405" "RP1_000021" "g.55542247T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.54629687T>G" "" "VUS" "ACMG" "0000986956" "2" "90" "8" "55541547" "55541551" "del" "0" "04405" "RP1_000473" "g.55541547_55541551del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.54628987_54628991del" "" "pathogenic" "ACMG" "0000987066" "0" "70" "8" "55542308" "55542308" "del" "0" "00006" "RP1_000530" "g.55542308del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.54629748del" "" "likely pathogenic" "ACMG" "0000987067" "0" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00006" "RP1_000018" "g.55542239C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000987068" "0" "90" "8" "55542239" "55542239" "subst" "0.000187423" "00006" "RP1_000018" "g.55542239C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.54629679C>T" "" "pathogenic" "ACMG" "0000987311" "0" "90" "8" "55538067" "55538067" "subst" "4.0699E-5" "00006" "RP1_000098" "g.55538067C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.54625507C>G" "" "pathogenic" "ACMG" "0000997209" "0" "50" "8" "55533600" "55533600" "subst" "4.06068E-6" "01804" "RP1_000531" "g.55533600G>A" "" "" "" "RP1(NM_006269.1):c.74G>A (p.(Arg25His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997210" "0" "50" "8" "55533894" "55533895" "dup" "0" "01804" "RP1_000090" "g.55533894_55533895dup" "" "" "" "RP1(NM_006269.1):c.368_369dupGC (p.(Pro124fs)), RP1(NM_006269.1):c.368_369dupGC (p.P124Afs*20), RP1(NM_006269.2):c.368_369dupGC (p.P124Afs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997211" "0" "50" "8" "55537278" "55537278" "subst" "8.1279E-6" "01804" "RP1_000532" "g.55537278C>T" "" "" "" "RP1(NM_006269.1):c.836C>T (p.(Ser279Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997212" "0" "90" "8" "55537454" "55537454" "subst" "0" "01804" "RP1_000097" "g.55537454C>T" "" "" "" "RP1(NM_006269.1):c.1012C>T (p.(Arg338*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997213" "0" "50" "8" "55537479" "55537479" "subst" "8.13471E-6" "01804" "RP1_000533" "g.55537479C>A" "" "" "" "RP1(NM_006269.1):c.1037C>A (p.(Thr346Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997214" "0" "50" "8" "55538422" "55538422" "subst" "3.27059E-5" "01804" "RP1_000211" "g.55538422T>A" "" "" "" "RP1(NM_006269.1):c.1980T>A (p.N660K, p.(Asn660Lys)), RP1(NM_006269.2):c.1980T>A (p.N660K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997215" "0" "30" "8" "55538592" "55538592" "subst" "8.13035E-6" "01804" "RP1_000136" "g.55538592C>T" "" "" "" "RP1(NM_006269.1):c.2150C>T (p.S717L, p.(Ser717Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997216" "0" "50" "8" "55538929" "55538929" "subst" "0" "01804" "RP1_000534" "g.55538929A>C" "" "" "" "RP1(NM_006269.1):c.2487A>C (p.(Lys829Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997217" "0" "30" "8" "55539215" "55539215" "subst" "0" "01804" "RP1_000535" "g.55539215C>A" "" "" "" "RP1(NM_006269.1):c.2773C>A (p.(Pro925Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997218" "0" "30" "8" "55539543" "55539543" "subst" "0.000146288" "01804" "RP1_000374" "g.55539543A>T" "" "" "" "RP1(NM_006269.1):c.3101A>T (p.(His1034Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997219" "0" "30" "8" "55539575" "55539575" "subst" "1.62536E-5" "01804" "RP1_000536" "g.55539575T>C" "" "" "" "RP1(NM_006269.1):c.3133T>C (p.(Ser1045Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997220" "0" "30" "8" "55539581" "55539581" "subst" "0" "01804" "RP1_000537" "g.55539581C>T" "" "" "" "RP1(NM_006269.1):c.3139C>T (p.(Pro1047Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997221" "0" "30" "8" "55539816" "55539816" "subst" "3.25529E-5" "01804" "RP1_000513" "g.55539816C>A" "" "" "" "RP1(NM_006269.1):c.3374C>A (p.(Ser1125Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997222" "0" "30" "8" "55540898" "55540898" "subst" "4.08187E-5" "01804" "RP1_000448" "g.55540898G>A" "" "" "" "RP1(NM_006269.1):c.4456G>A (p.(Gly1486Arg)), RP1(NM_006269.2):c.4456G>A (p.G1486R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997223" "0" "50" "8" "55541802" "55541802" "subst" "0" "01804" "RP1_000538" "g.55541802A>G" "" "" "" "RP1(NM_006269.1):c.5360A>G (p.(His1787Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997224" "0" "50" "8" "55541988" "55541988" "subst" "0" "01804" "RP1_000539" "g.55541988A>G" "" "" "" "RP1(NM_006269.1):c.5546A>G (p.(Asn1849Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997225" "0" "50" "8" "55542247" "55542247" "subst" "0.000146642" "01804" "RP1_000021" "g.55542247T>G" "" "" "" "RP1(NM_006269.1):c.5805T>G (p.(Phe1935Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997226" "0" "50" "8" "55542741" "55542741" "subst" "0" "01804" "RP1_000540" "g.55542741T>C" "" "" "" "RP1(NM_006269.1):c.6299T>C (p.(Leu2100Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014451" "0" "90" "8" "55533683" "55533683" "del" "0" "02325" "RP1_000541" "g.55533683del" "" "" "" "RP1(NM_006269.2):c.157delG (p.V53Wfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025527" "0" "90" "8" "55538471" "55538471" "subst" "0" "02329" "RP1_000068" "g.55538471C>T" "" "" "" "RP1(NM_006269.2):c.2029C>T (p.R677*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025528" "0" "50" "8" "55538610" "55538610" "subst" "4.06573E-6" "01943" "RP1_000542" "g.55538610G>A" "" "" "" "RP1(NM_006269.1):c.2168G>A (p.G723E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025529" "0" "70" "8" "55539395" "55539398" "del" "0" "01943" "RP1_000272" "g.55539395_55539398del" "" "" "" "RP1(NM_006269.1):c.2953_2956delAATC (p.N985Yfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036989" "0" "50" "8" "55533686" "55533686" "subst" "0.000174608" "01804" "RP1_000106" "g.55533686G>A" "" "" "" "RP1(NM_006269.1):c.160G>A (p.V54M), RP1(NM_006269.2):c.160G>A (p.(Val54Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036990" "0" "70" "8" "55534041" "55534041" "subst" "0.000106668" "02327" "RP1_000093" "g.55534041T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036991" "0" "30" "8" "55534671" "55534671" "subst" "0.00511348" "02325" "RP1_000082" "g.55534671T>C" "" "" "" "RP1(NM_006269.1):c.616-6T>C, RP1(NM_006269.2):c.616-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036992" "0" "50" "8" "55540031" "55540031" "subst" "0.000223734" "01804" "RP1_000357" "g.55540031A>G" "" "" "" "RP1(NM_006269.2):c.3589A>G (p.(Ser1197Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RP1 ## Count = 1611 "{{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}}" "0000060192" "00018052" "10" "-315" "0" "-315" "0" "c.-315T>C" "r.(=)" "p.(=)" "1" "0000060193" "00018052" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "1" "0000060194" "00018052" "90" "6" "0" "7" "0" "c.6_7del" "r.(?)" "p.(Ser2Argfs*16)" "2" "0000060195" "00018052" "90" "4941" "0" "4941" "0" "c.4941dup" "r.(?)" "p.(Pro1648Serfs*13)" "4" "0000060196" "00018052" "90" "686" "0" "686" "0" "c.686del" "r.(?)" "p.(Pro229Glnfs*35)" "3" "0000060197" "00018052" "90" "686" "0" "686" "0" "c.686del" "r.(?)" "p.(Pro229Glnfs*35)" "3" "0000060198" "00018052" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060199" "00018052" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060200" "00018052" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060201" "00018052" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060202" "00018052" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060203" "00018052" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060204" "00018052" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060205" "00018052" "90" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060206" "00018052" "10" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000060207" "00018052" "90" "1458" "0" "1461" "0" "c.1458_1461dup" "r.(?)" "p.(Glu488*)" "4" "0000060208" "00018052" "90" "1458" "0" "1461" "0" "c.1458_1461dup" "r.(?)" "p.(Glu488*)" "4" "0000060209" "00018052" "90" "1458" "0" "1461" "0" "c.1458_1461dup" "r.(?)" "p.(Glu488*)" "4" "0000060210" "00018052" "90" "1458" "0" "1461" "0" "c.1458_1461dup" "r.(?)" "p.(Glu488*)" "4" "0000060211" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499insGT" "r.(?)" "p.(Met500Serfs*33)" "4" "0000060212" "00018052" "90" "662" "0" "662" "0" "c.662del" "r.(?)" "p.(Ala221Glyfs*43)" "3" "0000060213" "00018052" "90" "2029" "0" "2029" "0" "c.2029del" "r.(?)" "p.(Arg677Aspfs*5)" "4" "0000060214" "00018052" "30" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "4" "0000060215" "00018052" "30" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "4" "0000060216" "00018052" "30" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "4" "0000060217" "00018052" "30" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Thr752Met)" "4" "0000060218" "00018052" "30" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000060219" "00018052" "30" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000060220" "00018052" "30" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000060221" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000060222" "00018052" "10" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000060223" "00018052" "10" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000060224" "00018052" "30" "3215" "0" "3215" "0" "c.3215A>G" "r.(?)" "p.(Asp1072Gly)" "4" "0000060225" "00018052" "30" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(=)" "4" "0000060226" "00018052" "30" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(=)" "4" "0000060227" "00018052" "30" "3188" "0" "3188" "0" "c.3188A>G" "r.(?)" "p.(Gln1063Arg)" "4" "0000060228" "00018052" "30" "3188" "0" "3188" "0" "c.3188A>G" "r.(?)" "p.(Gln1063Arg)" "4" "0000060229" "00018052" "30" "4067" "0" "4067" "0" "c.4067T>C" "r.(?)" "p.(Leu1356Ser)" "4" "0000060230" "00018052" "30" "4250" "0" "4250" "0" "c.4250T>C" "r.(?)" "p.(Leu1417Pro)" "4" "0000060231" "00018052" "30" "4250" "0" "4250" "0" "c.4250T>C" "r.(?)" "p.(Leu1417Pro)" "4" "0000060232" "00018052" "50" "4250" "0" "4250" "0" "c.4250T>C" "r.(?)" "p.(Leu1417Pro)" "4" "0000060233" "00018052" "10" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595Gln)" "4" "0000060234" "00018052" "30" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595Gln)" "4" "0000060235" "00018052" "30" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595Gln)" "4" "0000060236" "00018052" "10" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595Gln)" "4" "0000060237" "00018052" "30" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000060238" "00018052" "30" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000060239" "00018052" "30" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000060240" "00018052" "30" "5377" "0" "5377" "0" "c.5377C>T" "r.(?)" "p.(Pro1793Ser)" "4" "0000060241" "00018052" "30" "5377" "0" "5377" "0" "c.5377C>T" "r.(?)" "p.(Pro1793Ser)" "4" "0000060242" "00018052" "90" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(Gln679*)" "4" "0000060243" "00018052" "90" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(Gln679*)" "4" "0000060244" "00018052" "30" "5805" "0" "5805" "0" "c.5805T>G" "r.(?)" "p.(Phe1935Leu)" "4" "0000060245" "00018052" "30" "6045" "0" "6045" "0" "c.6045A>G" "r.(?)" "p.(=)" "4" "0000060246" "00018052" "30" "6196" "0" "6196" "0" "c.6196G>A" "r.(?)" "p.(Asp2066Asn)" "4" "0000060247" "00018052" "30" "6196" "0" "6196" "0" "c.6196G>A" "r.(?)" "p.(Asp2066Asn)" "4" "0000060248" "00018052" "30" "6423" "0" "6423" "0" "c.6423A>G" "r.(?)" "p.(Ile2141Met)" "4" "0000060249" "00018052" "30" "6423" "0" "6423" "0" "c.6423A>G" "r.(?)" "p.(Ile2141Met)" "4" "0000060250" "00018052" "30" "6542" "0" "6542" "0" "c.6542C>T" "r.(?)" "p.(=)" "4" "0000060251" "00018052" "30" "6542" "0" "6542" "0" "c.6542C>T" "r.(?)" "p.(=)" "4" "0000060252" "00018052" "30" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249His)" "3" "0000060253" "00018052" "30" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249His)" "3" "0000060254" "00018052" "30" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249His)" "3" "0000060255" "00018052" "90" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Gln686*)" "4" "0000060256" "00018052" "50" "4193" "0" "4193" "0" "c.4193C>G" "r.(?)" "p.(Ser1398Cys)" "4" "0000060257" "00018052" "50" "4193" "0" "4193" "0" "c.4193C>G" "r.(?)" "p.(Ser1398Cys)" "4" "0000060258" "00018052" "90" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689*)" "4" "0000060259" "00018052" "90" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689*)" "4" "0000060260" "00018052" "90" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689*)" "4" "0000060261" "00018052" "90" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689*)" "4" "0000060262" "00018052" "50" "-51" "0" "-51" "0" "c.-51A>G" "r.(=)" "p.(=)" "1" "0000060263" "00018052" "30" "6139" "0" "6139" "0" "c.6139G>A" "r.(?)" "p.(Val2047Met)" "4" "0000060264" "00018052" "50" "5962" "0" "5962" "0" "c.5962A>G" "r.(?)" "p.(Ile1988Val)" "4" "0000060265" "00018052" "90" "2275" "0" "2275" "0" "c.2275A>T" "r.(?)" "p.(Arg759*)" "4" "0000060266" "00018052" "90" "2275" "0" "2275" "0" "c.2275A>T" "r.(?)" "p.(Arg759*)" "4" "0000060267" "00018052" "90" "2275" "0" "2275" "0" "c.2275A>T" "r.(?)" "p.(Arg759*)" "4" "0000060268" "00018052" "10" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "4" "0000060269" "00018052" "10" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "4" "0000060270" "00018052" "70" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "4" "0000060271" "00018052" "50" "5448" "0" "5448" "0" "c.5448C>A" "r.(?)" "p.(Cys1816*)" "4" "0000060272" "00018052" "30" "5448" "0" "5448" "0" "c.5448C>A" "r.(?)" "p.(Cys1816*)" "4" "0000060273" "00018052" "30" "5448" "0" "5448" "0" "c.5448C>A" "r.(?)" "p.(Cys1816*)" "4" "0000060274" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060275" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060276" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060277" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060278" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060279" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060280" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060281" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060282" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060283" "00018052" "90" "2025" "0" "2025" "0" "c.2025del" "r.(?)" "p.(Lys675Asnfs*7)" "4" "0000060284" "00018052" "90" "1979" "0" "1979" "0" "c.1979dup" "r.(?)" "p.(Asn660Lysfs*2)" "4" "0000060285" "00018052" "90" "2098" "0" "2098" "0" "c.2098G>T" "r.(?)" "p.(Glu700*)" "4" "0000060286" "00018052" "90" "2951" "0" "2951" "0" "c.2951A>G" "r.(?)" "p.(Asp984Gly)" "4" "0000060287" "00018052" "90" "2951" "0" "2951" "0" "c.2951A>G" "r.(?)" "p.(Asp984Gly)" "4" "0000060288" "00018052" "90" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "2" "0000060289" "00018052" "90" "2169" "0" "2169" "0" "c.2169del" "r.(?)" "p.(Ile725Tyrfs*13)" "4" "0000060290" "00018052" "90" "2169" "0" "2169" "0" "c.2169del" "r.(?)" "p.(Ile725Tyrfs*13)" "4" "0000060291" "00018052" "90" "2169" "0" "2169" "0" "c.2169del" "r.(?)" "p.(Ile725Tyrfs*13)" "4" "0000060292" "00018052" "90" "2115" "0" "2115" "0" "c.2115del" "r.(?)" "p.(Gly706Valfs*7)" "4" "0000060293" "00018052" "90" "2164" "0" "2165" "0" "c.2164_2165delinsG" "r.(?)" "p.(Lys722Glufs*16)" "4" "0000060294" "00018052" "90" "2167" "0" "2167" "0" "c.2167G>T" "r.(?)" "p.(Gly723*)" "4" "0000060295" "00018052" "90" "2167" "0" "2167" "0" "c.2167G>T" "r.(?)" "p.(Gly723*)" "4" "0000060296" "00018052" "90" "2167" "0" "2167" "0" "c.2167G>T" "r.(?)" "p.(Gly723*)" "4" "0000060297" "00018052" "90" "2172" "0" "2185" "0" "c.2172_2185del" "r.(?)" "p.(Ile725Argfs*6)" "4" "0000060298" "00018052" "90" "2172" "0" "2185" "0" "c.2172_2185del" "r.(?)" "p.(Ile725Argfs*6)" "4" "0000060299" "00018052" "90" "2172" "0" "2172" "0" "c.2172dup" "r.(?)" "p.(Ile725Aspfs*4)" "4" "0000060300" "00018052" "90" "2172" "0" "2172" "0" "c.2172dup" "r.(?)" "p.(Ile725Aspfs*4)" "4" "0000060301" "00018052" "90" "2171" "0" "2186" "0" "c.2171_2186del" "r.(?)" "p.(Gly724Glufs*9)" "4" "0000060302" "00018052" "90" "2185" "0" "2185" "0" "c.2185del" "r.(?)" "p.(Glu729Lysfs*9)" "4" "0000060303" "00018052" "90" "2205" "0" "2205" "0" "c.2205dup" "r.(?)" "p.(Thr736Tyrfs*4)" "4" "0000060304" "00018052" "90" "2232" "0" "2232" "0" "c.2232T>A" "r.(?)" "p.(Cys744*)" "4" "0000060305" "00018052" "90" "2232" "0" "2232" "0" "c.2232T>A" "r.(?)" "p.(Cys744*)" "4" "0000060306" "00018052" "90" "2239" "0" "2239" "0" "c.2239del" "r.(?)" "p.(Ser747Valfs*16)" "4" "0000060307" "00018052" "10" "6366" "0" "6366" "0" "c.6366T>C" "r.(?)" "p.(=)" "4" "0000060308" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060309" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060310" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060311" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060312" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060313" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060314" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060315" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060316" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060317" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060318" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060319" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000060320" "00018052" "90" "2287" "0" "2290" "0" "c.2287_2290del" "r.(?)" "p.(Asn763Leufs*11)" "4" "0000060321" "00018052" "90" "2287" "0" "2290" "0" "c.2287_2290del" "r.(?)" "p.(Asn763Leufs*11)" "4" "0000060322" "00018052" "90" "2304" "0" "2304" "0" "c.2304del" "r.(?)" "p.(Lys769Argfs*6)" "4" "0000060323" "00018052" "90" "2304" "0" "2304" "0" "c.2304del" "r.(?)" "p.(Lys769Argfs*6)" "4" "0000060324" "00018052" "90" "2332" "0" "2332" "0" "c.2332A>T" "r.(?)" "p.(Lys778*)" "4" "0000060325" "00018052" "90" "2336" "0" "2337" "0" "c.2336_2337del" "r.(?)" "p.(Ser779*)" "4" "0000060326" "00018052" "90" "2591" "0" "2600" "0" "c.2591_2600del" "r.(?)" "p.(Ile864Lysfs*11)" "4" "0000060327" "00018052" "90" "2594" "0" "2596" "0" "c.2594_2596del" "r.(?)" "p.(Thr865_Leu866delinsIle)" "4" "0000060328" "00018052" "90" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "4" "0000060329" "00018052" "90" "2732" "0" "2732" "0" "c.2732C>A" "r.(?)" "p.(Ser911*)" "4" "0000060330" "00018052" "90" "2847" "0" "2847" "0" "c.2847del" "r.(?)" "p.(Asn949Lysfs*16)" "4" "0000060331" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000060332" "00018052" "90" "4108" "0" "4108" "0" "c.4108A>G" "r.(?)" "p.(Lys1370Glu)" "4" "0000060333" "00018052" "90" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Arg1519Glufs*2)" "4" "0000060334" "00018052" "90" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Arg1519Glufs*2)" "4" "0000060335" "00018052" "90" "4955" "0" "4955" "0" "c.4955G>T" "r.(?)" "p.(Arg1652Leu)" "4" "0000060336" "00018052" "50" "4955" "0" "4955" "0" "c.4955G>T" "r.(?)" "p.(Arg1652Leu)" "4" "0000060337" "00018052" "90" "5252" "0" "5252" "0" "c.5252del" "r.(?)" "p.(Asn1751Ilefs*4)" "4" "0000060338" "00018052" "90" "5252" "0" "5252" "0" "c.5252del" "r.(?)" "p.(Asn1751Ilefs*4)" "4" "0000060339" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060340" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060341" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060342" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060343" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060344" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060345" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060346" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060347" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060348" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060349" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060350" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060351" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060352" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060353" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060354" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060355" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060356" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060357" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060358" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060359" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000060360" "00018052" "90" "2005" "0" "2005" "0" "c.2005G>A" "r.(?)" "p.(Ala669Thr)" "4" "0000060361" "00018052" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Ala218Thr)" "3" "0000060362" "00018052" "50" "1222" "0" "1222" "0" "c.1222A>C" "r.(?)" "p.(Ile408Leu)" "4" "0000060363" "00018052" "50" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Met479Ile)" "4" "0000060364" "00018052" "50" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Met479Ile)" "4" "0000060365" "00018052" "50" "1989" "0" "1989" "0" "c.1989G>T" "r.(?)" "p.(Lys663Asn)" "4" "0000060366" "00018052" "50" "1989" "0" "1989" "0" "c.1989G>T" "r.(?)" "p.(Lys663Asn)" "4" "0000060367" "00018052" "50" "2393" "0" "2393" "0" "c.2393G>C" "r.(?)" "p.(Arg798Asn)" "4" "0000060368" "00018052" "50" "2376" "0" "2376" "0" "c.2376A>C" "r.(?)" "p.(Lys792Gln)" "4" "0000060369" "00018052" "50" "2700" "0" "2700" "0" "c.2700A>C" "r.(?)" "p.(Lys900Thr)" "4" "0000060370" "00018052" "50" "2707" "0" "2707" "0" "c.2707T>A" "r.(?)" "p.(Pro903Leu)" "4" "0000060371" "00018052" "50" "2707" "0" "2707" "0" "c.2707T>A" "r.(?)" "p.(Pro903Leu)" "4" "0000060372" "00018052" "50" "5423" "0" "5423" "0" "c.5423T>C" "r.(?)" "p.(Leu1808Pro)" "4" "0000060373" "00018052" "50" "6338" "0" "6338" "0" "c.6338C>A" "r.(?)" "p.(Thr2113Asn)" "4" "0000060374" "00018052" "50" "6338" "0" "6338" "0" "c.6338C>A" "r.(?)" "p.(Thr2113Asn)" "4" "0000060375" "00018052" "30" "502" "0" "502" "0" "c.502C>G" "r.(?)" "p.(Arg168Gly)" "2" "0000060376" "00018052" "30" "787" "34" "787" "34" "c.787+34T>C" "r.(=)" "p.(=)" "3i" "0000060377" "00018052" "10" "616" "-6" "616" "-6" "c.616-6T>C" "r.(?)" "p.(=)" "2i" "0000060378" "00018052" "50" "616" "-6" "616" "-6" "c.616-6T>C" "r.(spl?)" "p.(?)" "2i" "0000060379" "00018052" "50" "616" "-6" "616" "-6" "c.616-6T>C" "r.(spl?)" "p.(?)" "2i" "0000060380" "00018052" "10" "788" "-68" "788" "-68" "c.788-68T>C" "r.(?)" "p.(=)" "3i" "0000060381" "00018052" "10" "788" "-68" "788" "-68" "c.788-68T>C" "r.(?)" "p.(=)" "3i" "0000060382" "00018052" "10" "2379" "0" "2379" "0" "c.2379A>G" "r.(?)" "p.(=)" "4" "0000060383" "00018052" "10" "3012" "0" "3012" "0" "c.3012C>G" "r.(?)" "p.(=)" "4" "0000060384" "00018052" "10" "6650" "0" "6652" "0" "c.*179_*181del" "r.(=)" "p.(=)" "4" "0000060385" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000060386" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000060387" "00018052" "90" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000060388" "00018052" "90" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000060389" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "4" "0000060390" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "4" "0000060391" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "4" "0000060392" "00018052" "90" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "2" "0000060393" "00018052" "90" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "4" "0000060394" "00018052" "90" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "4" "0000060395" "00018052" "90" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "4" "0000060396" "00018052" "90" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "4" "0000060397" "00018052" "90" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "4" "0000060398" "00018052" "50" "4735" "0" "4735" "0" "c.4735T>G" "r.(?)" "p.(Leu1579Val)" "4" "0000060399" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "2" "0000060400" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "2" "0000060401" "00018052" "90" "3396" "0" "3396" "0" "c.3396G>A" "r.(?)" "p.(Trp1132*)" "4" "0000060402" "00018052" "90" "3396" "0" "3396" "0" "c.3396G>A" "r.(?)" "p.(Trp1132*)" "4" "0000060403" "00018052" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338*)" "4" "0000060404" "00018052" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338*)" "4" "0000060405" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000060406" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000060407" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000060408" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000060409" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000060410" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000158318" "00018052" "90" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Arg1519Glufs*2)" "4" "0000158344" "00018052" "90" "1458" "0" "1461" "0" "c.1458_1461dup" "r.(?)" "p.(Glu488*)" "4" "0000158346" "00018052" "90" "5252" "0" "5252" "0" "c.5252del" "r.(?)" "p.(Asn1751Ilefs*4)" "4" "0000162778" "00018052" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "4" "0000162782" "00018052" "90" "3697" "0" "3697" "0" "c.3697del" "r.(?)" "p.(Ser1233Profs*22)" "4" "0000162793" "00018052" "90" "6098" "0" "6098" "0" "c.6098G>A" "r.(?)" "p.(Cys2033Tyr)" "4" "0000162817" "00018052" "90" "787" "1" "787" "1" "c.787+1G>A" "r.spl" "p.?" "3i" "0000246739" "00018052" "30" "4421" "0" "4421" "0" "c.4421A>G" "r.(?)" "p.(His1474Arg)" "" "0000248606" "00018052" "10" "5175" "0" "5175" "0" "c.5175A>G" "r.(?)" "p.(Gln1725=)" "" "0000255896" "00018052" "50" "2624" "0" "2624" "0" "c.2624A>T" "r.(?)" "p.(Asp875Val)" "" "0000255906" "00018052" "50" "4137" "0" "4137" "0" "c.4137A>T" "r.(?)" "p.(Glu1379Asp)" "" "0000255972" "00018052" "50" "407" "0" "407" "0" "c.407A>C" "r.(?)" "p.(His136Pro)" "" "0000256351" "00018052" "50" "3632" "0" "3632" "0" "c.3632A>C" "r.(?)" "p.(Asn1211Thr)" "" "0000256424" "00018052" "50" "5174" "0" "5174" "0" "c.5174A>T" "r.(?)" "p.(Gln1725Leu)" "" "0000256674" "00018052" "50" "1493" "0" "1493" "0" "c.1493A>C" "r.(?)" "p.(Tyr498Ser)" "" "0000294888" "00018052" "30" "1629" "0" "1629" "0" "c.1629T>C" "r.(?)" "p.(Ser543=)" "" "0000294889" "00018052" "50" "2005" "0" "2005" "0" "c.2005G>A" "r.(?)" "p.(Ala669Thr)" "" "0000294890" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Ter)" "" "0000294891" "00018052" "10" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Thr752Met)" "" "0000294892" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762TyrfsTer17)" "" "0000294893" "00018052" "10" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Leu76=)" "" "0000294894" "00018052" "90" "2430" "0" "2430" "0" "c.2430C>A" "r.(?)" "p.(Cys810Ter)" "" "0000294895" "00018052" "30" "2682" "0" "2682" "0" "c.2682T>G" "r.(?)" "p.(Ser894=)" "" "0000294896" "00018052" "10" "2833" "0" "2833" "0" "c.2833G>T" "r.(?)" "p.(Val945Leu)" "" "0000294897" "00018052" "10" "2991" "0" "2991" "0" "c.2991T>C" "r.(?)" "p.(Asn997=)" "" "0000294899" "00018052" "10" "3999" "0" "3999" "0" "c.3999C>T" "r.(?)" "p.(Tyr1333=)" "" "0000294900" "00018052" "30" "4250" "0" "4250" "0" "c.4250T>C" "r.(?)" "p.(Leu1417Pro)" "" "0000294901" "00018052" "50" "4954" "0" "4954" "0" "c.4954C>T" "r.(?)" "p.(Arg1652Cys)" "" "0000294902" "00018052" "30" "5066" "0" "5066" "0" "c.5066G>A" "r.(?)" "p.(Ser1689Asn)" "" "0000294903" "00018052" "50" "5673" "0" "5673" "0" "c.5673G>T" "r.(?)" "p.(Leu1891Phe)" "" "0000294904" "00018052" "10" "615" "16" "615" "16" "c.615+16G>T" "r.(=)" "p.(=)" "" "0000294905" "00018052" "10" "615" "3" "615" "3" "c.615+3G>A" "r.spl?" "p.?" "" "0000294906" "00018052" "10" "6366" "0" "6366" "0" "c.6366T>C" "r.(?)" "p.(Ile2122=)" "" "0000297714" "00018052" "10" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "" "0000297715" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "" "0000297716" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "" "0000297717" "00018052" "10" "96320" "0" "96320" "0" "c.*89849C>T" "r.(=)" "p.(=)" "" "0000307207" "00018052" "50" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Lys460Asn)" "" "0000307208" "00018052" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Val54Met)" "" "0000307209" "00018052" "50" "2016" "0" "2016" "0" "c.2016G>T" "r.(?)" "p.(Lys672Asn)" "" "0000307210" "00018052" "30" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Thr752Met)" "" "0000307211" "00018052" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Leu76=)" "" "0000307212" "00018052" "90" "2430" "0" "2430" "0" "c.2430C>A" "r.(?)" "p.(Cys810Ter)" "" "0000307213" "00018052" "50" "2755" "0" "2755" "0" "c.2755T>G" "r.(?)" "p.(Trp919Gly)" "" "0000307214" "00018052" "30" "2991" "0" "2991" "0" "c.2991T>C" "r.(?)" "p.(Asn997=)" "" "0000307215" "00018052" "50" "3656" "0" "3656" "0" "c.3656G>A" "r.(?)" "p.(Ser1219Asn)" "" "0000307216" "00018052" "30" "4250" "0" "4250" "0" "c.4250T>C" "r.(?)" "p.(Leu1417Pro)" "" "0000307217" "00018052" "30" "4565" "0" "4565" "0" "c.4565G>A" "r.(?)" "p.(Gly1522Asp)" "" "0000307218" "00018052" "50" "4748" "0" "4748" "0" "c.4748T>A" "r.(?)" "p.(Ile1583Asn)" "" "0000307219" "00018052" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Asp163Asn)" "" "0000307220" "00018052" "50" "5624" "0" "5624" "0" "c.5624G>C" "r.(?)" "p.(Gly1875Ala)" "" "0000307221" "00018052" "30" "5634" "0" "5634" "0" "c.5634C>A" "r.(?)" "p.(Val1878=)" "" "0000307222" "00018052" "30" "616" "-6" "616" "-6" "c.616-6T>C" "r.(=)" "p.(=)" "" "0000307223" "00018052" "50" "6196" "0" "6196" "0" "c.6196G>A" "r.(?)" "p.(Asp2066Asn)" "" "0000332131" "00018052" "50" "3985" "0" "3985" "0" "c.3985A>G" "r.(?)" "p.(Ile1329Val)" "" "0000339153" "00018052" "50" "2911" "0" "2911" "0" "c.2911A>G" "r.(?)" "p.(Ser971Gly)" "" "0000343444" "00018052" "10" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "" "0000343854" "00018052" "10" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "" "0000343988" "00018052" "50" "6196" "0" "6196" "0" "c.6196G>A" "r.(?)" "p.(Asp2066Asn)" "" "0000344304" "00018052" "10" "6098" "0" "6098" "0" "c.6098G>A" "r.(?)" "p.(Cys2033Tyr)" "" "0000344546" "00018052" "90" "4105" "0" "4105" "0" "c.4105C>T" "r.(?)" "p.(Gln1369Ter)" "" "0000347645" "00018052" "90" "2374" "0" "2374" "0" "c.2374A>T" "r.(?)" "p.(Lys792Ter)" "" "0000347971" "00018052" "50" "539" "0" "539" "0" "c.539T>G" "r.(?)" "p.(Phe180Cys)" "" "0000347976" "00018052" "50" "5805" "0" "5805" "0" "c.5805T>G" "r.(?)" "p.(Phe1935Leu)" "" "0000348773" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "" "0000349047" "00018052" "90" "1451" "0" "1451" "0" "c.1451C>A" "r.(?)" "p.(Ser484Ter)" "" "0000349147" "00018052" "50" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Ser717Leu)" "" "0000349210" "00018052" "90" "2732" "0" "2732" "0" "c.2732C>G" "r.(?)" "p.(Ser911Ter)" "" "0000358330" "00018052" "90" "688" "0" "688" "0" "c.688G>T" "r.(?)" "p.(Gly230*)" "3" "0000438343" "00018052" "90" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "2" "0000438561" "00018052" "90" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "2" "0000438562" "00018052" "90" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "2" "0000476858" "00018052" "50" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Pro86Thr)" "" "0000476859" "00018052" "50" "381" "0" "381" "0" "c.381G>T" "r.(?)" "p.(Trp127Cys)" "" "0000476860" "00018052" "50" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Arg131Gln)" "" "0000476861" "00018052" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(His136Tyr)" "" "0000476862" "00018052" "50" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Val142Ile)" "" "0000476863" "00018052" "50" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Gly148Asp)" "" "0000476864" "00018052" "90" "452" "0" "452" "0" "c.452del" "r.(?)" "p.(Arg151Profs*6)" "" "0000476865" "00018052" "50" "518" "0" "518" "0" "c.518G>T" "r.(?)" "p.(Ser173Ile)" "" "0000476866" "00018052" "90" "648" "0" "648" "0" "c.648del" "r.(?)" "p.(Gly217Glufs*47)" "" "0000476867" "00018052" "90" "1000" "0" "1000" "0" "c.1000dup" "r.(?)" "p.(Glu334Glyfs*22)" "" "0000476868" "00018052" "90" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Trp349*)" "" "0000476869" "00018052" "50" "1078" "0" "1078" "0" "c.1078A>C" "r.(?)" "p.(Asn360His)" "" "0000476870" "00018052" "50" "1112" "0" "1112" "0" "c.1112G>T" "r.(?)" "p.(Gly371Val)" "" "0000476871" "00018052" "50" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Ser398Asn)" "" "0000476872" "00018052" "50" "1496" "0" "1496" "0" "c.1496A>C" "r.(?)" "p.(His499Pro)" "" "0000476873" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499del" "r.(?)" "p.(Met500Valfs*7)" "" "0000476874" "00018052" "50" "1566" "0" "1566" "0" "c.1566C>G" "r.(?)" "p.(Asn522Lys)" "" "0000476875" "00018052" "50" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Glu628Gly)" "" "0000476876" "00018052" "90" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Glu661*)" "" "0000476877" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000476878" "00018052" "90" "2032" "0" "2032" "0" "c.2032C>T" "r.(?)" "p.(Gln678*)" "" "0000476879" "00018052" "90" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689*)" "" "0000476880" "00018052" "50" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "" "0000476881" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "" "0000476882" "00018052" "50" "2252" "0" "2252" "0" "c.2252C>T" "r.(?)" "p.(Ser751Phe)" "" "0000476883" "00018052" "50" "2377" "0" "2377" "0" "c.2377A>G" "r.(?)" "p.(Arg793Gly)" "" "0000476884" "00018052" "90" "2592" "0" "2596" "0" "c.2592_2596del" "r.(?)" "p.(Thr865Lysfs*7)" "" "0000476885" "00018052" "90" "2594" "0" "2594" "0" "c.2594del" "r.(?)" "p.(Thr865Ilefs*2)" "" "0000476886" "00018052" "50" "2599" "0" "2599" "0" "c.2599A>C" "r.(?)" "p.(Lys867Gln)" "" "0000476887" "00018052" "90" "2599" "0" "2599" "0" "c.2599A>T" "r.(?)" "p.(Lys867*)" "" "0000476888" "00018052" "90" "2607" "0" "2607" "0" "c.2607dup" "r.(?)" "p.(Lys870Glufs*4)" "" "0000476889" "00018052" "10" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "" "0000476890" "00018052" "50" "2704" "0" "2704" "0" "c.2704G>A" "r.(?)" "p.(Asp902Asn)" "" "0000476891" "00018052" "50" "2720" "0" "2720" "0" "c.2720T>C" "r.(?)" "p.(Ile907Thr)" "" "0000476892" "00018052" "50" "2830" "0" "2830" "0" "c.2830G>A" "r.(?)" "p.(Val944Met)" "" "0000476893" "00018052" "50" "2894" "0" "2894" "0" "c.2894G>T" "r.(?)" "p.(Ser965Ile)" "" "0000476894" "00018052" "50" "2923" "0" "2923" "0" "c.2923A>G" "r.(?)" "p.(Ile975Val)" "" "0000476895" "00018052" "50" "2933" "0" "2933" "0" "c.2933T>A" "r.(?)" "p.(Ile978Asn)" "" "0000476896" "00018052" "50" "2951" "0" "2951" "0" "c.2951A>G" "r.(?)" "p.(Asp984Gly)" "" "0000476897" "00018052" "10" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "" "0000476898" "00018052" "50" "2960" "0" "2960" "0" "c.2960G>A" "r.(?)" "p.(Cys987Tyr)" "" "0000476899" "00018052" "90" "2997" "0" "2997" "0" "c.2997del" "r.(?)" "p.(Gly1000Valfs*13)" "" "0000476900" "00018052" "50" "3155" "0" "3155" "0" "c.3155T>C" "r.(?)" "p.(Val1052Ala)" "" "0000476901" "00018052" "90" "3669" "0" "3669" "0" "c.3669C>A" "r.(?)" "p.(Cys1223*)" "" "0000476902" "00018052" "90" "4195" "0" "4195" "0" "c.4195del" "r.(?)" "p.(Cys1399Valfs*5)" "" "0000476903" "00018052" "50" "4249" "0" "4249" "0" "c.4249C>G" "r.(?)" "p.(Leu1417Val)" "" "0000476904" "00018052" "50" "4544" "0" "4544" "0" "c.4544T>C" "r.(?)" "p.(Met1515Thr)" "" "0000476905" "00018052" "50" "4873" "0" "4873" "0" "c.4873A>T" "r.(?)" "p.(Ile1625Leu)" "" "0000476906" "00018052" "50" "4876" "0" "4876" "0" "c.4876G>A" "r.(?)" "p.(Gly1626Arg)" "" "0000476907" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "" "0000476908" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "" "0000476909" "00018052" "50" "5552" "0" "5552" "0" "c.5552A>C" "r.(?)" "p.(His1851Pro)" "" "0000476910" "00018052" "50" "5753" "0" "5753" "0" "c.5753G>A" "r.(?)" "p.(Cys1918Tyr)" "" "0000476911" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000476912" "00018052" "90" "5802" "0" "5802" "0" "c.5802dup" "r.(?)" "p.(Phe1935Ilefs*8)" "" "0000476913" "00018052" "50" "5913" "0" "5913" "0" "c.5913C>A" "r.(?)" "p.(Asn1971Lys)" "" "0000476914" "00018052" "50" "6098" "0" "6098" "0" "c.6098G>A" "r.(?)" "p.(Cys2033Tyr)" "" "0000476915" "00018052" "90" "6178" "0" "6178" "0" "c.6178del" "r.(?)" "p.(Glu2060Lysfs*13)" "" "0000476916" "00018052" "50" "6197" "0" "6197" "0" "c.6197A>G" "r.(?)" "p.(Asp2066Gly)" "" "0000476917" "00018052" "90" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "" "0000476918" "00018052" "50" "6421" "0" "6421" "0" "c.6421A>C" "r.(?)" "p.(Ile2141Leu)" "" "0000477562" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499del" "r.(?)" "p.(Met500Valfs*7)" "" "0000477563" "00018052" "10" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "" "0000477564" "00018052" "50" "2894" "0" "2894" "0" "c.2894G>T" "r.(?)" "p.(Ser965Ile)" "" "0000477565" "00018052" "10" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "" "0000477566" "00018052" "90" "4195" "0" "4195" "0" "c.4195del" "r.(?)" "p.(Cys1399Valfs*5)" "" "0000477567" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "" "0000477568" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "" "0000477569" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000477570" "00018052" "50" "6098" "0" "6098" "0" "c.6098G>A" "r.(?)" "p.(Cys2033Tyr)" "" "0000477571" "00018052" "90" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "" "0000487571" "00018052" "90" "3150" "0" "3150" "0" "c.3150del" "r.(?)" "p.(Lys1050Asnfs*7)" "4" "0000534960" "00018052" "90" "71" "0" "71" "0" "c.71dup" "r.(?)" "p.(Arg25SerfsTer37)" "" "0000534961" "00018052" "10" "279" "0" "279" "0" "c.279G>T" "r.(?)" "p.(Thr93=)" "" "0000534962" "00018052" "30" "279" "0" "279" "0" "c.279G>T" "r.(?)" "p.(Thr93=)" "" "0000534963" "00018052" "90" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124AlafsTer20)" "" "0000534964" "00018052" "90" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124AlafsTer20)" "" "0000534965" "00018052" "30" "424" "0" "424" "0" "c.424G>T" "r.(?)" "p.(Val142Leu)" "" "0000534966" "00018052" "30" "616" "-6" "616" "-6" "c.616-6T>C" "r.(=)" "p.(=)" "" "0000534967" "00018052" "90" "726" "0" "726" "0" "c.726del" "r.(?)" "p.(Arg242SerfsTer22)" "" "0000534968" "00018052" "90" "788" "-1" "788" "-1" "c.788-1G>A" "r.spl?" "p.?" "" "0000534969" "00018052" "50" "820" "0" "820" "0" "c.820C>A" "r.(?)" "p.(Gln274Lys)" "" "0000534970" "00018052" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000534971" "00018052" "10" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "" "0000534972" "00018052" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "" "0000534973" "00018052" "10" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "" "0000534974" "00018052" "50" "1980" "0" "1980" "0" "c.1980T>A" "r.(?)" "p.(Asn660Lys)" "" "0000534975" "00018052" "50" "1980" "0" "1980" "0" "c.1980T>A" "r.(?)" "p.(Asn660Lys)" "" "0000534976" "00018052" "50" "2011" "0" "2011" "0" "c.2011A>C" "r.(?)" "p.(Lys671Gln)" "" "0000534977" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Ter)" "" "0000534978" "00018052" "90" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689Ter)" "" "0000534979" "00018052" "50" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Ser717Leu)" "" "0000534980" "00018052" "30" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Leu749Phe)" "" "0000534981" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762TyrfsTer17)" "" "0000534982" "00018052" "90" "2732" "0" "2732" "0" "c.2732C>G" "r.(?)" "p.(Ser911Ter)" "" "0000534983" "00018052" "30" "2792" "0" "2792" "0" "c.2792C>G" "r.(?)" "p.(Pro931Arg)" "" "0000534984" "00018052" "30" "2825" "0" "2825" "0" "c.2825C>T" "r.(?)" "p.(Thr942Met)" "" "0000534985" "00018052" "30" "3333" "0" "3333" "0" "c.3333A>G" "r.(?)" "p.(Ser1111=)" "" "0000534986" "00018052" "30" "3666" "0" "3666" "0" "c.3666G>A" "r.(?)" "p.(Lys1222=)" "" "0000534987" "00018052" "30" "3826" "0" "3826" "0" "c.3826C>T" "r.(?)" "p.(Pro1276Ser)" "" "0000534988" "00018052" "30" "3976" "0" "3976" "0" "c.3976G>C" "r.(?)" "p.(Ala1326Pro)" "" "0000534989" "00018052" "30" "4193" "0" "4193" "0" "c.4193C>G" "r.(?)" "p.(Ser1398Cys)" "" "0000534990" "00018052" "50" "4663" "0" "4663" "0" "c.4663G>A" "r.(?)" "p.(Gly1555Arg)" "" "0000534991" "00018052" "50" "4780" "0" "4780" "0" "c.4780T>C" "r.(?)" "p.(Tyr1594His)" "" "0000534992" "00018052" "50" "4970" "0" "4970" "0" "c.4970G>T" "r.(?)" "p.(Cys1657Phe)" "" "0000534993" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "" "0000534994" "00018052" "30" "5066" "0" "5066" "0" "c.5066G>A" "r.(?)" "p.(Ser1689Asn)" "" "0000534995" "00018052" "10" "5175" "0" "5175" "0" "c.5175A>G" "r.(?)" "p.(Gln1725=)" "" "0000534996" "00018052" "10" "5377" "0" "5377" "0" "c.5377C>T" "r.(?)" "p.(Pro1793Ser)" "" "0000534997" "00018052" "30" "5377" "0" "5377" "0" "c.5377C>T" "r.(?)" "p.(Pro1793Ser)" "" "0000534998" "00018052" "30" "5624" "0" "5624" "0" "c.5624G>C" "r.(?)" "p.(Gly1875Ala)" "" "0000534999" "00018052" "30" "5701" "0" "5701" "0" "c.5701C>T" "r.(?)" "p.(Leu1901Phe)" "" "0000535000" "00018052" "50" "5737" "0" "5737" "0" "c.5737C>T" "r.(?)" "p.(Leu1913Phe)" "" "0000535001" "00018052" "50" "5737" "0" "5737" "0" "c.5737C>T" "r.(?)" "p.(Leu1913Phe)" "" "0000535002" "00018052" "70" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Gln1916Ter)" "" "0000535003" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000535004" "00018052" "30" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Gly2019Ser)" "" "0000611639" "00018052" "50" "832" "0" "832" "0" "c.832G>T" "r.(?)" "p.(Val278Phe)" "" "0000611640" "00018052" "50" "2171" "0" "2171" "0" "c.2171G>A" "r.(?)" "p.(Gly724Glu)" "" "0000611641" "00018052" "50" "2576" "0" "2576" "0" "c.2576T>G" "r.(?)" "p.(Val859Gly)" "" "0000611642" "00018052" "30" "3036" "0" "3036" "0" "c.3036G>C" "r.(?)" "p.(Leu1012=)" "" "0000611643" "00018052" "50" "3040" "0" "3040" "0" "c.3040G>C" "r.(?)" "p.(Asp1014His)" "" "0000611644" "00018052" "30" "3048" "0" "3048" "0" "c.3048T>C" "r.(?)" "p.(Tyr1016=)" "" "0000611645" "00018052" "30" "3297" "0" "3297" "0" "c.3297C>T" "r.(?)" "p.(His1099=)" "" "0000611646" "00018052" "30" "4509" "0" "4509" "0" "c.4509T>C" "r.(?)" "p.(Thr1503=)" "" "0000611647" "00018052" "30" "4512" "0" "4512" "0" "c.4512A>G" "r.(?)" "p.(Leu1504=)" "" "0000611648" "00018052" "30" "4835" "0" "4835" "0" "c.4835A>G" "r.(?)" "p.(Asn1612Ser)" "" "0000611649" "00018052" "30" "5178" "0" "5178" "0" "c.5178T>C" "r.(?)" "p.(Asn1726=)" "" "0000611650" "00018052" "30" "5257" "0" "5257" "0" "c.5257T>C" "r.(?)" "p.(Leu1753=)" "" "0000611651" "00018052" "50" "5525" "0" "5525" "0" "c.5525G>C" "r.(?)" "p.(Cys1842Ser)" "" "0000622075" "00018052" "50" "6298" "0" "6298" "0" "c.6298C>T" "r.(?)" "p.(Leu2100Phe)" "" "0000624950" "00018052" "70" "2978" "0" "2978" "0" "c.2978del" "r.(?)" "p.(Ser993Phefs*20)" "" "0000624951" "00018052" "70" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "" "0000652503" "00018052" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000652504" "00018052" "30" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "" "0000652505" "00018052" "30" "5701" "0" "5701" "0" "c.5701C>T" "r.(?)" "p.(Leu1901Phe)" "" "0000652506" "00018052" "50" "6196" "0" "6196" "0" "c.6196G>A" "r.(?)" "p.(Asp2066Asn)" "" "0000656113" "00018052" "30" "957" "0" "957" "0" "c.957T>C" "r.(?)" "p.(Ile319=)" "" "0000656114" "00018052" "30" "3846" "0" "3846" "0" "c.3846T>A" "r.(?)" "p.(Pro1282=)" "" "0000656115" "00018052" "30" "3874" "0" "3874" "0" "c.3874T>C" "r.(?)" "p.(Ser1292Pro)" "" "0000656116" "00018052" "50" "5673" "0" "5673" "0" "c.5673G>T" "r.(?)" "p.(Leu1891Phe)" "" "0000663575" "00018052" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "" "0000666151" "00018052" "90" "1975" "0" "1975" "0" "c.1975A>T" "r.(?)" "p.(Lys659*)" "" "0000670016" "00018052" "30" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "" "0000678403" "00018052" "50" "4295" "0" "4295" "0" "c.4295A>G" "r.(?)" "p.(Asn1432Ser)" "" "0000683400" "00018052" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "" "0000683401" "00018052" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000683402" "00018052" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000684422" "00018052" "70" "1719" "0" "1723" "0" "c.1719_1723del" "r.(?)" "p.(Ser574Cysfs*7)" "4" "0000684569" "00018052" "70" "160" "0" "160" "0" "c.160del" "r.(?)" "p.(Val54Trpfs*27)" "" "0000684570" "00018052" "70" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "" "0000684660" "00018052" "90" "1455" "0" "1455" "0" "c.1455T>G" "r.(?)" "p.(Tyr485*)" "" "0000684696" "00018052" "90" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000684845" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684846" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684847" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684848" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684849" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684850" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684851" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684852" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684853" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684854" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684855" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684856" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684857" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684858" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684859" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684860" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684861" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684862" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684863" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684864" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684865" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684866" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684867" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684868" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684869" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684870" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684871" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684872" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684873" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684874" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684875" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684876" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684877" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684878" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684879" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684880" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684881" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684882" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684883" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684884" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684885" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684886" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000684887" "00018052" "90" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000684888" "00018052" "90" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000684889" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684890" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684891" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000684892" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000685428" "00018052" "90" "688" "0" "688" "0" "c.688G>T" "r.(?)" "p.(Gly230*)" "" "0000685429" "00018052" "90" "2167" "0" "2167" "0" "c.2167G>T" "r.(?)" "p.(Gly723*)" "" "0000685430" "00018052" "90" "2180" "0" "2181" "0" "c.2180_2181delinsAA" "r.(?)" "p.(Cys727*)" "" "0000685755" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000686108" "00018052" "90" "3418" "0" "3419" "0" "c.3418_3419del" "r.(?)" "p.(Gly1140Lysfs*4)" "" "0000686111" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396*)" "" "0000690285" "00018052" "30" "5296" "0" "5296" "0" "c.5296A>C" "r.(?)" "p.(Asn1766His)" "" "0000710281" "00018052" "90" "3150" "0" "3150" "0" "c.3150del" "r.(?)" "p.(Lys1050Asnfs*7)" "" "0000710291" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000711684" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000711694" "00018052" "10" "5448" "0" "5448" "0" "c.5448C>A" "r.(?)" "p.(Cys1816*)" "4" "0000711695" "00018052" "10" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Lys460Asn)" "4" "0000711696" "00018052" "10" "4735" "0" "4735" "0" "c.4735T>G" "r.(?)" "p.(Leu1579Val)" "4" "0000711697" "00018052" "10" "1705" "0" "1705" "0" "c.1705A>G" "r.(?)" "p.(Thr569Ala)" "4" "0000711814" "00018052" "30" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "4" "0000711815" "00018052" "30" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000711816" "00018052" "30" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595Gln)" "4" "0000711817" "00018052" "30" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000711818" "00018052" "30" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "4" "0000711819" "00018052" "30" "5175" "0" "5175" "0" "c.5175A>G" "r.(=)" "p.(=)" "4" "0000711820" "00018052" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000711821" "00018052" "30" "5423" "0" "5423" "0" "c.5423T>C" "r.(?)" "p.(Leu1808Pro)" "4" "0000711822" "00018052" "30" "6366" "0" "6366" "0" "c.6366T>C" "r.(=)" "p.(=)" "4" "0000713266" "00018052" "90" "2206" "0" "2207" "0" "c.2206_2207insA" "r.(?)" "p.(Thr736Asnfs*4)" "" "0000713272" "00018052" "90" "5883" "0" "5883" "0" "c.5883del" "r.(?)" "p.(Thr1962Glnfs*15)" "" "0000713419" "00018052" "90" "616" "-6" "616" "-6" "c.616-6T>C" "r.(=)" "p.(=)" "" "0000713474" "00018052" "90" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Gln686*)" "" "0000713494" "00018052" "90" "2608" "0" "2609" "0" "c.2608_2609insA" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000713495" "00018052" "90" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000713510" "00018052" "90" "3837" "0" "3837" "0" "c.3837del" "r.(?)" "p.(Pro1282Leufs*12)" "" "0000713540" "00018052" "90" "2168" "0" "2181" "0" "c.2168_2181del" "r.(?)" "p.(Ile725Argfs*6)" "" "0000713548" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "" "0000713554" "00018052" "90" "2595" "0" "2596" "0" "c.2595_2596del" "r.(?)" "p.(Leu866Lysfs*7)" "" "0000713596" "00018052" "90" "2280" "0" "2284" "0" "c.2280_2284del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000713600" "00018052" "90" "2032" "0" "2032" "0" "c.2032C>T" "r.(?)" "p.(Gln678*)" "" "0000713603" "00018052" "90" "2656" "0" "2656" "0" "c.2656C>T" "r.(?)" "p.(Gln886*)" "" "0000713640" "00018052" "90" "3837" "0" "3837" "0" "c.3837del" "r.(?)" "p.(Pro1282Leufs*12)" "" "0000713682" "00018052" "90" "2318" "0" "2318" "0" "c.2318del" "r.(?)" "p.(Leu774*)" "" "0000713765" "00018052" "90" "2082" "0" "2082" "0" "c.2082del" "r.(?)" "p.(Ile695Phefs*8)" "" "0000713808" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499del" "r.(?)" "p.(Met500Valfs*7)" "" "0000713884" "00018052" "90" "5883" "0" "5883" "0" "c.5883del" "r.(?)" "p.(Thr1962Glnfs*15)" "" "0000722022" "00018052" "50" "1136" "0" "1136" "0" "c.1136G>T" "r.(?)" "p.(Gly379Val)" "" "0000722023" "00018052" "90" "2953" "0" "2956" "0" "c.2953_2956del" "r.(?)" "p.(Asn985Tyrfs*27)" "" "0000722024" "00018052" "30" "3826" "0" "3826" "0" "c.3826C>T" "r.(?)" "p.(Pro1276Ser)" "" "0000722025" "00018052" "30" "3999" "0" "3999" "0" "c.3999C>T" "r.(?)" "p.(Tyr1333=)" "" "0000729759" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000731006" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000731065" "00018052" "50" "5673" "0" "5673" "0" "c.5673G>T" "r.(?)" "p.(Leu1891Phe)" "" "0000731073" "00018052" "50" "5840" "0" "5840" "0" "c.5840T>G" "r.(?)" "p.(Leu1947Trp)" "" "0000731093" "00018052" "50" "4875" "0" "4875" "0" "c.4875A>G" "r.(?)" "p.(Ile1625Met)" "" "0000731478" "00018052" "90" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000731479" "00018052" "90" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000731480" "00018052" "90" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000731511" "00018052" "90" "121" "0" "121" "0" "c.121T>C" "r.(?)" "p.(Tyr41His)" "" "0000732632" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000732633" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000732752" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000732753" "00018052" "70" "1979" "0" "1979" "0" "c.1979dup" "r.(?)" "p.(Asn660Lysfs*2)" "" "0000732763" "00018052" "70" "2189" "0" "2191" "0" "c.2189_2191delinsTA" "r.(?)" "p.(Asp730Valfs*8)" "" "0000732810" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000732811" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000732842" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000732843" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000732844" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000732879" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000733090" "00018052" "70" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Gly223Glufs*41)" "" "0000733546" "00018052" "70" "5962" "0" "5962" "0" "c.5962dup" "r.(?)" "p.(Ile1988Asnfs*3)" "" "0000734355" "00018052" "70" "5764" "0" "5764" "0" "c.5764A>G" "r.(?)" "p.(Thr1922Ala)" "" "0000734356" "00018052" "70" "788" "0" "790" "0" "c.788_790del" "r.(?)" "p.(Ile263del)" "" "0000734357" "00018052" "70" "1482" "0" "1482" "0" "c.1482C>G" "r.(?)" "p.(Asn494Lys)" "" "0000734358" "00018052" "70" "5311" "0" "5311" "0" "c.5311T>C" "r.(?)" "p.(Ser1771Pro)" "" "0000734396" "00018052" "70" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Gln732*)" "" "0000735654" "00018052" "90" "1451" "0" "1451" "0" "c.1451C>A" "r.(?)" "p.(Ser484*)" "" "0000735655" "00018052" "90" "2335" "0" "2335" "0" "c.2335del" "r.(?)" "p.(Ser779Leufs*4)" "" "0000735656" "00018052" "90" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "" "0000735657" "00018052" "90" "3843" "0" "3843" "0" "c.3843del" "r.(?)" "p.(Pro1282Leufs*12)" "" "0000735762" "00018052" "90" "1451" "0" "1451" "0" "c.1451C>A" "r.(?)" "p.(Ser484*)" "" "0000735763" "00018052" "90" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "" "0000735764" "00018052" "90" "3843" "0" "3843" "0" "c.3843del" "r.(?)" "p.(Pro1282Leufs*12)" "" "0000735907" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542Ter)" "" "0000735908" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542Ter)" "" "0000735935" "00018052" "70" "4780" "0" "4780" "0" "c.4780T>C" "r.(?)" "p.(Tyr1594His)" "" "0000735963" "00018052" "70" "5881" "0" "5881" "0" "c.5881C>T" "r.(?)" "p.(Gln1961Ter)" "" "0000735964" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542Ter)" "" "0000735995" "00018052" "70" "6198" "0" "6200" "0" "c.6198_6200del" "r.(?)" "p.(Asp2066del)" "4" "0000736061" "00018052" "90" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Gln686*)" "" "0000736092" "00018052" "70" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "" "0000736133" "00018052" "70" "4168" "0" "4169" "0" "c.4168_4169insT" "r.(?)" "p.(His1390Leufs*6)" "" "0000736134" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000736319" "00018052" "90" "2026" "0" "2026" "0" "c.2026del" "r.(?)" "p.(Ser676Leufs*6)" "4" "0000736320" "00018052" "90" "2026" "0" "2026" "0" "c.2026del" "r.(?)" "p.(Ser676Leufs*6)" "4" "0000736321" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000736322" "00018052" "90" "2200" "0" "2200" "0" "c.2200del" "r.(?)" "p.(Ser734Valfs*4)" "4" "0000736323" "00018052" "90" "2245" "0" "2248" "0" "c.2245_2248delinsTGAG" "r.(?)" "p.(Leu749*)" "4" "0000736324" "00018052" "90" "2305" "0" "2317" "0" "c.2305_2317del" "r.(?)" "p.(Lys769Phefs*2)" "4" "0000736325" "00018052" "90" "2597" "0" "2597" "0" "c.2597del" "r.(?)" "p.(Leu866*)" "4" "0000736326" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000736327" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000736478" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000736479" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000736480" "00018052" "90" "2167" "0" "2167" "0" "c.2167G>T" "r.(?)" "p.(Gly723*)" "4" "0000736481" "00018052" "10" "3101" "0" "3101" "0" "c.3101A>G" "r.(?)" "p.(His1034Arg)" "4" "0000736482" "00018052" "10" "5423" "0" "5423" "0" "c.5423T>C" "r.(?)" "p.(Leu1808Pro)" "4" "0000759598" "00018052" "90" "2107" "0" "2108" "0" "c.2107_2108dup" "r.(?)" "p.(Asn703Lysfs*11)" "" "0000759599" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000759600" "00018052" "90" "4090" "0" "4090" "0" "c.4090A>T" "r.(?)" "p.(Arg1364*)" "" "0000759601" "00018052" "90" "2348" "0" "2348" "0" "c.2348dup" "r.(?)" "p.(Asn783Lysfs*2)" "" "0000759648" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000759649" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000759660" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542Ter)" "" "0000759676" "00018052" "90" "4105" "0" "4105" "0" "c.4105C>T" "r.(?)" "p.(Gln1369Ter)" "" "0000759892" "00018052" "90" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872ThrfsTer2)" "" "0000759893" "00018052" "90" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872ThrfsTer2)" "" "0000759922" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "" "0000759923" "00018052" "90" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000759924" "00018052" "90" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000759925" "00018052" "90" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000760028" "00018052" "50" "615" "3" "615" "3" "c.615+3G>A" "r.spl" "p.?" "" "0000760235" "00018052" "50" "1598" "0" "1601" "0" "c.1598_1601del" "r.(?)" "p.(Arg533Lysfs*12)" "" "0000760238" "00018052" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Gln248*)" "" "0000760249" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000760275" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000760282" "00018052" "50" "2032" "0" "2032" "0" "c.2032C>T" "r.(?)" "p.(Gln678*)" "" "0000760321" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000760333" "00018052" "50" "1462" "0" "1462" "0" "c.1462del" "r.(?)" "p.(Glu488Lysfs*44)" "" "0000760343" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000760348" "00018052" "50" "2749" "0" "2749" "0" "c.2749C>T" "r.(?)" "p.(Gln917*)" "" "0000760353" "00018052" "50" "121" "0" "121" "0" "c.121T>C" "r.(?)" "p.(Tyr41His)" "" "0000760462" "00018052" "50" "539" "0" "539" "0" "c.539T>G" "r.(?)" "p.(Phe180Cys)" "" "0000760503" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000760593" "00018052" "90" "4576" "0" "4576" "0" "c.4576G>T" "r.(?)" "p.(Glu1526Ter)" "" "0000760594" "00018052" "90" "5446" "0" "5446" "0" "c.5446T>C" "r.(?)" "p.(Cys1816Arg)" "" "0000760595" "00018052" "90" "2749" "0" "2749" "0" "c.2749C>T" "r.(?)" "p.(Gln917Ter)" "" "0000760659" "00018052" "90" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124AlafsTer20)" "" "0000764057" "00018052" "70" "2434" "0" "2434" "0" "c.2434del" "r.(?)" "p.(Ser812ValfsTer36)" "" "0000764058" "00018052" "70" "405" "0" "406" "0" "c.405_406dup" "r.(?)" "p.(His136ArgfsTer8)" "" "0000764876" "00018052" "70" "2161" "0" "2161" "0" "c.2161del" "r.(?)" "p.(Gly723GlufsTer15)" "" "0000764879" "00018052" "70" "2329" "0" "2329" "0" "c.2329dup" "r.(?)" "p.(Arg777LysfsTer4)" "" "0000765656" "00018052" "90" "679" "0" "679" "0" "c.679T>G" "r.(?)" "p.(Phe227Val)" "3" "0000765761" "00018052" "70" "3428" "0" "3428" "0" "c.3428del" "r.(?)" "p.(Asn1143IlefsTer25)" "" "0000765762" "00018052" "70" "3428" "0" "3428" "0" "c.3428del" "r.(?)" "p.(Asn1143IlefsTer25)" "" "0000765765" "00018052" "70" "3428" "0" "3428" "0" "c.3428del" "r.(?)" "p.(Asn1143IlefsTer25)" "" "0000765845" "00018052" "70" "662" "0" "662" "0" "c.662del" "r.(?)" "p.(Ala221GlyfsTer43)" "" "0000765875" "00018052" "70" "1719" "0" "1723" "0" "c.1719_1723del" "r.(?)" "p.(Ser574CysfsTer7)" "" "0000765910" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000766067" "00018052" "90" "688" "0" "688" "0" "c.688G>T" "r.(?)" "p.(Gly230*)" "" "0000766068" "00018052" "90" "688" "0" "688" "0" "c.688G>T" "r.(?)" "p.(Gly230*)" "" "0000783277" "00018052" "70" "1455" "0" "1455" "0" "c.1455T>G" "r.(?)" "p.(Tyr485Ter)" "4" "0000783279" "00018052" "70" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Gln766Ter)" "4" "0000784195" "00018052" "90" "2117" "0" "2117" "0" "c.2117del" "r.(?)" "p.(Gly706ValfsTer7)" "" "0000784196" "00018052" "90" "426" "0" "426" "0" "c.426dup" "r.(?)" "p.(Ala143SerfsTer86)" "" "0000784279" "00018052" "50" "2512" "0" "2512" "0" "c.2512T>A" "r.(?)" "p.(Ser838Thr)" "" "0000784417" "00018052" "50" "2905" "0" "2905" "0" "c.2905A>G" "r.(?)" "p.(Met969Val)" "" "0000784431" "00018052" "50" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "" "0000784458" "00018052" "50" "3874" "0" "3874" "0" "c.3874T>C" "r.(?)" "p.(Ser1292Pro)" "" "0000784473" "00018052" "50" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Met479Ile)" "" "0000784476" "00018052" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Asp163Asn)" "" "0000784528" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000784548" "00018052" "50" "4564" "0" "4564" "0" "c.4564G>A" "r.(?)" "p.(Gly1522Ser)" "" "0000784559" "00018052" "50" "2992" "0" "2992" "0" "c.2992G>A" "r.(?)" "p.(Asp998Asn)" "" "0000784573" "00018052" "90" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Gly203Arg)" "" "0000784601" "00018052" "50" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Ser277Phe)" "" "0000785398" "00018052" "90" "686" "0" "686" "0" "c.686del" "r.(?)" "p.(Pro229GlnfsTer35)" "" "0000785527" "00018052" "90" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Glu661Ter)" "" "0000785528" "00018052" "90" "2288" "0" "2288" "0" "c.2288del" "r.(?)" "p.(Asn763IlefsTer12)" "" "0000785529" "00018052" "90" "2745" "0" "2749" "0" "c.2745_2749del" "r.(?)" "p.(Tyr915Ter)" "" "0000785534" "00018052" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443Gln)" "" "0000785560" "00018052" "90" "5815" "0" "5815" "0" "c.5815A>T" "r.(?)" "p.(Lys1939Ter)" "" "0000785580" "00018052" "90" "1419" "0" "1420" "0" "c.1419_1420del" "r.(?)" "p.(Glu474GlyfsTer12)" "" "0000786304" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Ter)" "" "0000786315" "00018052" "90" "4582" "0" "4585" "0" "c.4582_4585del" "r.(?)" "p.(Ile1528ValfsTer10)" "" "0000786316" "00018052" "90" "5962" "0" "5962" "0" "c.5962dup" "r.(?)" "p.(Ile1988AsnfsTer3)" "" "0000786320" "00018052" "90" "5962" "0" "5962" "0" "c.5962dup" "r.(?)" "p.(Ile1988AsnfsTer3)" "" "0000786323" "00018052" "90" "5962" "0" "5962" "0" "c.5962dup" "r.(?)" "p.(Ile1988Asnfs*3)" "" "0000786335" "00018052" "90" "5673" "0" "5673" "0" "c.5673G>T" "r.(?)" "p.(Leu1891Phe)" "" "0000786384" "00018052" "90" "2827" "0" "2827" "0" "c.2827dup" "r.(?)" "p.(Ser943LysfsTer6)" "" "0000787626" "00018052" "70" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Trp127Ter)" "" "0000787632" "00018052" "70" "3223" "0" "3223" "0" "c.3223G>T" "r.(?)" "p.(Glu1075Ter)" "" "0000787634" "00018052" "70" "678" "0" "678" "0" "c.678del" "r.(?)" "p.(Phe227LeufsTer37)" "" "0000787705" "00018052" "70" "257" "0" "257" "0" "c.257dup" "r.(?)" "p.(Arg87SerfsTer48)" "" "0000788112" "00018052" "90" "650" "0" "650" "0" "c.650del" "r.(?)" "p.(Gly217GlufsTer47)" "" "0000788113" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Ter)" "" "0000788145" "00018052" "70" "4876" "0" "4876" "0" "c.4876G>A" "r.(?)" "p.(Gly1626Arg)" "" "0000788377" "00018052" "50" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "2" "0000788391" "00018052" "50" "2400" "0" "2400" "0" "c.2400A>T" "r.(?)" "p.(Lys800Asn)" "4" "0000788432" "00018052" "50" "2025" "0" "2025" "0" "c.2025dup" "r.(?)" "p.(Ser676IlefsTer22)" "4" "0000788520" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "4" "0000788536" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762TyrfsTer17)" "" "0000788542" "00018052" "70" "2342" "0" "2342" "0" "c.2342C>G" "r.(?)" "p.(Ser781Ter)" "4" "0000790436" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399LeufsTer5)" "" "0000790437" "00018052" "70" "796" "0" "796" "0" "c.796delinsTA" "r.(?)" "p.(His266Ter)" "" "0000790531" "00018052" "50" "1568" "0" "1568" "0" "c.1568A>G" "r.(?)" "p.(Asn523Ser)" "" "0000790532" "00018052" "50" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Thr752Met)" "" "0000790542" "00018052" "50" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "" "0000791194" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.spl" "p.(Leu762Tyrfs*17)" "4" "0000791231" "00018052" "90" "218" "0" "237" "0" "c.218_237dup" "r.(?)" "p.(Val80Argfs*8)" "2" "0000791521" "00018052" "70" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Glu661*)" "4" "0000791522" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000791523" "00018052" "70" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Gln686*)" "4" "0000791524" "00018052" "70" "2080" "0" "2080" "0" "c.2080G>T" "r.(?)" "p.(Gly694*)" "4" "0000791525" "00018052" "70" "2115" "0" "2115" "0" "c.2115del" "r.(?)" "p.(Gly706Valfs*7)" "4" "0000791526" "00018052" "70" "2164" "0" "2165" "0" "c.2164_2165delinsG" "r.(?)" "p.(Lys722Glufs*16)" "4" "0000791527" "00018052" "70" "2232" "0" "2232" "0" "c.2232T>A" "r.(?)" "p.(Cys744*)" "4" "0000791528" "00018052" "70" "2288" "0" "2288" "0" "c.2288del" "r.(?)" "p.(Asn763Ilefs*12)" "4" "0000791529" "00018052" "70" "2289" "0" "2299" "0" "c.2289_2299del" "r.(?)" "p.(Asn763Lysfs*14)" "4" "0000791530" "00018052" "70" "2745" "0" "2749" "0" "c.2745_2749del" "r.(?)" "p.(Tyr915*)" "4" "0000791531" "00018052" "70" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443Gln)" "4" "0000791926" "00018052" "10" "2280" "0" "2284" "0" "c.2280_2284del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000792357" "00018052" "70" "289" "0" "289" "0" "c.289G>T" "r.(?)" "p.(Glu97*)" "" "0000792358" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000792401" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000792402" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000793741" "00018052" "50" "686" "0" "686" "0" "c.686del" "r.(?)" "p.(Pro229Glnfs*35)" "3" "0000793749" "00018052" "10" "4250" "0" "4250" "0" "c.4250T>C" "r.(?)" "p.(Leu1417Pro)" "4" "0000793750" "00018052" "10" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000793922" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000793923" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000793944" "00018052" "70" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Gly50Arg)" "2" "0000794008" "00018052" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Arg677*)" "" "0000794009" "00018052" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Lys705fs*711)" "" "0000794010" "00018052" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Cys744*)" "" "0000794045" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000794068" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000794069" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000794114" "00018052" "70" "4582" "0" "4585" "0" "c.4582_4585del" "r.(?)" "p.(Ile1528Valfs*10)" "" "0000794115" "00018052" "70" "2238" "0" "2239" "0" "c.2238_2239del" "r.(?)" "p.(Ser747*)" "" "0000794122" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000794123" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000794135" "00018052" "30" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(His614Tyr)" "" "0000794375" "00018052" "90" "426" "0" "426" "0" "c.426dup" "r.(?)" "p.(Ala143Serfs*86)" "2" "0000794376" "00018052" "90" "4743" "0" "4743" "0" "c.4743dup" "r.(?)" "p.(Cys1582Metfs*9)" "4" "0000794377" "00018052" "90" "5531" "0" "5531" "0" "c.5531dup" "r.(?)" "p.(Glu1845Glyfs*13)" "4" "0000794378" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000794694" "00018052" "70" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "" "0000794757" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000794765" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000794766" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000794767" "00018052" "70" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "" "0000794768" "00018052" "70" "5805" "0" "5805" "0" "c.5805dup" "r.(?)" "p.(Ala1936Cysfs*7)" "" "0000794769" "00018052" "70" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "" "0000794779" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000794780" "00018052" "70" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "" "0000794838" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "" "0000794839" "00018052" "70" "227" "0" "227" "0" "c.227T>C" "r.(?)" "p.(Leu76Pro)" "" "0000794842" "00018052" "70" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Gln1602*)" "" "0000794843" "00018052" "70" "1837" "0" "1837" "0" "c.1837dup" "r.(?)" "p.(Thr613Asnfs*6)" "" "0000794887" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.?" "p.?" "" "0000794888" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.?" "p.(Tyr1352Alafs*9)" "" "0000794894" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053insN[328]" "r.?" "p.(Tyr1352Alafs*9)" "" "0000794930" "00018052" "70" "2951" "0" "2951" "0" "c.2951A>G" "r.(?)" "p.(Asp984Gly)" "4" "0000794936" "00018052" "30" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "4" "0000794995" "00018052" "50" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "2" "0000794996" "00018052" "50" "4552" "0" "4552" "0" "c.4552A>T" "r.(?)" "p.(Lys1518*)" "4" "0000794997" "00018052" "50" "662" "0" "662" "0" "c.662del" "r.(?)" "p.(Ala221Glyfs*43)" "3" "0000794998" "00018052" "50" "3428" "0" "3428" "0" "c.3428del" "r.(?)" "p.(Asn1143Ilefs*25)" "4" "0000794999" "00018052" "50" "3428" "0" "3428" "0" "c.3428del" "r.(?)" "p.(Asn1143Ilefs*25)" "4" "0000795000" "00018052" "50" "3677" "0" "3678" "0" "c.3677_3678dup" "r.(?)" "p.(Glu1227Metfs*29)" "4" "0000795001" "00018052" "50" "3428" "0" "3428" "0" "c.3428del" "r.(?)" "p.(Asn1143Ilefs*25)" "4" "0000795067" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396*)" "4" "0000795072" "00018052" "90" "3418" "0" "3419" "0" "c.3418_3419del" "r.(?)" "p.(Gly1140Lysfs*4)" "4" "0000795784" "00018052" "70" "2434" "0" "2434" "0" "c.2434del" "r.(?)" "p.(Ser812Valfs*36)" "4" "0000795786" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000795997" "00018052" "50" "2905" "0" "2905" "0" "c.2905A>G" "r.(?)" "p.(Met969Val)" "4" "0000796181" "00018052" "70" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "4" "0000796695" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000796696" "00018052" "90" "597" "0" "597" "0" "c.597C>A" "r.(?)" "p.(Tyr199*)" "2" "0000796699" "00018052" "90" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "4" "0000796700" "00018052" "90" "4474" "0" "4474" "0" "c.4474G>T" "r.(?)" "p.(Glu1492*)" "4" "0000796701" "00018052" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338*)" "4" "0000796703" "00018052" "90" "5278" "0" "5287" "0" "c.5278_5287del" "r.(?)" "p.(Asn1760Cysfs*46)" "4" "0000796712" "00018052" "90" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "2" "0000796734" "00018052" "70" "6304" "0" "6304" "0" "c.6304C>T" "r.(?)" "p.(Gln2102*)" "4" "0000796792" "00018052" "70" "1380" "0" "1380" "0" "c.1380G>C" "r.(?)" "p.(Lys460Asn)" "4" "0000796800" "00018052" "90" "3843" "0" "3843" "0" "c.3843del" "r.(?)" "p.(Pro1282Leufs*12)" "4" "0000796810" "00018052" "70" "3191" "0" "3191" "0" "c.3191G>T" "r.(?)" "p.(Ser1064Ile)" "4" "0000796835" "00018052" "70" "5248" "0" "5248" "0" "c.5248G>T" "r.(?)" "p.(Glu1750*)" "4" "0000796865" "00018052" "70" "3589" "0" "3589" "0" "c.3589A>G" "r.(?)" "p.(Ser1197Gly)" "4" "0000796953" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000796954" "00018052" "70" "2167" "0" "2167" "0" "c.2167G>T" "r.(?)" "p.(Gly723*)" "4" "0000796955" "00018052" "70" "2172" "0" "2185" "0" "c.2172_2185del" "r.(?)" "p.(Ile725Argfs*6)" "4" "0000796956" "00018052" "70" "2180" "0" "2181" "0" "c.2180_2181delinsAA" "r.(?)" "p.(Cys727*)" "4" "0000796957" "00018052" "70" "2181" "0" "2181" "0" "c.2181T>A" "r.(?)" "p.(Cys727*)" "4" "0000796958" "00018052" "70" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Gln732*)" "4" "0000796959" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000796960" "00018052" "70" "2585" "0" "2585" "0" "c.2585C>G" "r.(?)" "p.(Ser862*)" "4" "0000796995" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000796996" "00018052" "90" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Gln1602*)" "4" "0000796997" "00018052" "90" "5173" "0" "5173" "0" "c.5173C>T" "r.(?)" "p.(Gln1725*)" "4" "0000797000" "00018052" "10" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "4" "0000797001" "00018052" "90" "4327" "0" "4327" "0" "c.4327C>T" "r.(?)" "p.(Arg1443Trp)" "4" "0000797002" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000797003" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "4" "0000797004" "00018052" "10" "5175" "0" "5175" "0" "c.5175A>G" "r.(=)" "p.(=)" "4" "0000797010" "00018052" "50" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Pro126Leu)" "2" "0000797096" "00018052" "50" "1663" "0" "1663" "0" "c.1663C>G" "r.(?)" "p.(Gln555Glu)" "4" "0000797165" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000797497" "00018052" "70" "1458" "0" "1461" "0" "c.1458_1461dup" "r.(?)" "p.(Glu488*)" "4" "0000797498" "00018052" "70" "4576" "0" "4576" "0" "c.4576G>T" "r.(?)" "p.(Glu1526*)" "4" "0000797499" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000797500" "00018052" "70" "2596" "0" "2597" "0" "c.2596_2597del" "r.(?)" "p.(Leu866Lysfs*7)" "4" "0000797501" "00018052" "70" "2172" "0" "2185" "0" "c.2172_2185del" "r.(?)" "p.(Ile725Argfs*6)" "4" "0000797502" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "4" "0000797503" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000797504" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872fs)" "4" "0000797505" "00018052" "70" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(gln679*)" "4" "0000797506" "00018052" "70" "2199" "0" "2200" "0" "c.2199_2200del" "r.(?)" "p.(Ser734*)" "4" "0000797507" "00018052" "70" "2749" "0" "2749" "0" "c.2749C>T" "r.(?)" "p.(Gln917*)" "4" "0000797508" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000797509" "00018052" "70" "2199" "0" "2200" "0" "c.2199_2200del" "r.(?)" "p.(Ser734*)" "4" "0000797510" "00018052" "70" "2596" "0" "2597" "0" "c.2596_2597del" "r.(?)" "p.(Leu866Lysfs*7)" "4" "0000797511" "00018052" "70" "2163" "0" "2163" "0" "c.2163dup" "r.(?)" "p.(Leu722*)" "4" "0000797526" "00018052" "70" "6171" "0" "6174" "0" "c.6171_6174del" "r.(?)" "p.(Thr2058Metfs*14)" "" "0000797796" "00018052" "70" "2026" "0" "2026" "0" "c.2026del" "r.(?)" "p.(Ser676Leufs*6)" "" "0000797797" "00018052" "70" "1451" "0" "1451" "0" "c.1451C>A" "r.(?)" "p.(Ser484*)" "" "0000797798" "00018052" "70" "4576" "0" "4576" "0" "c.4576G>T" "r.(?)" "p.(Glu1526*)" "" "0000797799" "00018052" "90" "2690" "0" "2695" "0" "c.2690_2695del" "r.(?)" "p.(Ser897*)" "" "0000797801" "00018052" "90" "2690" "0" "2695" "0" "c.2690_2695del" "r.(?)" "p.(Ser897*)" "" "0000797802" "00018052" "90" "2585" "0" "2585" "0" "c.2585C>G" "r.(?)" "p.(Ser862*)" "" "0000797803" "00018052" "70" "2055" "0" "2055" "0" "c.2055T>G" "r.(?)" "p.(Tyr685*)" "" "0000797804" "00018052" "90" "2690" "0" "2695" "0" "c.2690_2695del" "r.(?)" "p.(Ser897*)" "" "0000797805" "00018052" "70" "2115" "0" "2115" "0" "c.2115del" "r.(?)" "p.(Gly706Valfs*7)" "" "0000797806" "00018052" "70" "788" "-2" "788" "-2" "c.788-2A>T" "r.spl" "p.(?)" "" "0000797807" "00018052" "70" "3688" "0" "3688" "0" "c.3688C>T" "r.(?)" "p.(Gln1230*)" "" "0000797808" "00018052" "90" "2690" "0" "2695" "0" "c.2690_2695del" "r.(?)" "p.(Ser897*)" "" "0000797809" "00018052" "70" "269" "0" "269" "0" "c.269del" "r.(?)" "p.(His90Profs*26)" "" "0000797810" "00018052" "90" "2690" "0" "2695" "0" "c.2690_2695del" "r.(?)" "p.(Ser897*)" "" "0000797811" "00018052" "70" "2026" "0" "2026" "0" "c.2026del" "r.(?)" "p.(Ser676Leufs*6)" "" "0000797814" "00018052" "70" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "" "0000798066" "00018052" "50" "5805" "0" "5805" "0" "c.5805T>G" "r.(?)" "p.(Phe1935Leu)" "" "0000798067" "00018052" "50" "3101" "0" "3101" "0" "c.3101A>T" "r.(?)" "p.(His1034Leu)" "" "0000798069" "00018052" "50" "4642" "0" "4642" "0" "c.4642A>T" "r.(?)" "p.(Ser1548Cys)" "" "0000798071" "00018052" "50" "578" "0" "578" "0" "c.578G>C" "r.(?)" "p.(Arg193Pro)" "" "0000798072" "00018052" "50" "5805" "0" "5805" "0" "c.5805T>G" "r.(?)" "p.(Phe1935Leu)" "" "0000798073" "00018052" "50" "3101" "0" "3101" "0" "c.3101A>T" "r.(?)" "p.(His1034Leu)" "" "0000798074" "00018052" "70" "830" "0" "831" "0" "c.830_831del" "r.(?)" "p.(Ser277Cysfs*4)" "" "0000803674" "00018052" "10" "885" "0" "885" "0" "c.885T>C" "r.(?)" "p.(Val295=)" "" "0000803675" "00018052" "30" "1472" "0" "1472" "0" "c.1472G>A" "r.(?)" "p.(Ser491Asn)" "" "0000803676" "00018052" "30" "3081" "0" "3081" "0" "c.3081A>G" "r.(?)" "p.(Ser1027=)" "" "0000803677" "00018052" "30" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Asn1320=)" "" "0000803678" "00018052" "10" "4565" "0" "4565" "0" "c.4565G>A" "r.(?)" "p.(Gly1522Asp)" "" "0000803679" "00018052" "50" "4780" "0" "4780" "0" "c.4780T>C" "r.(?)" "p.(Tyr1594His)" "" "0000803680" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "" "0000803681" "00018052" "90" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Gln1916Ter)" "" "0000811481" "00018052" "90" "1455" "0" "1455" "0" "c.1455T>G" "r.(?)" "p.(Tyr485Ter)" "" "0000811517" "00018052" "90" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399LeufsTer5)" "" "0000811749" "00018052" "50" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124AlafsTer20)" "2" "0000811906" "00018052" "70" "310" "0" "310" "0" "c.310T>C" "r.(?)" "p.(Tyr104His)" "" "0000811907" "00018052" "70" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Trp349*)" "" "0000811908" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000811910" "00018052" "70" "2194" "0" "2194" "0" "c.2194C>T" "r.(?)" "p.(Gln732*)" "" "0000812030" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000812036" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000812082" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000812099" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000812134" "00018052" "70" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000812153" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000812154" "00018052" "70" "149" "0" "168" "0" "c.149_168delinsAGACCCCCAATT" "r.(?)" "p.(Gly50Glufs*9)" "2" "0000812166" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000812224" "00018052" "70" "1234" "0" "1234" "0" "c.1234dup" "r.(?)" "p.(Met412Asnfs*7)" "4" "0000812225" "00018052" "70" "1510" "0" "1510" "0" "c.1510T>C" "r.(?)" "p.(Ser504Pro)" "4" "0000812230" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000812288" "00018052" "70" "4582" "0" "4585" "0" "c.4582_4585del" "r.(?)" "p.(Ile1528Valfs*10)" "4" "0000812291" "00018052" "70" "93" "0" "105" "0" "c.93_105delinsAAA" "r.(?)" "p.(His31Glnfs*47)" "2" "0000812297" "00018052" "70" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396*)" "4" "0000812302" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000812303" "00018052" "70" "2816" "0" "2816" "0" "c.2816del" "r.(?)" "p.(Arg939Lysfs*7)" "4" "0000812389" "00018052" "70" "5173" "0" "5173" "0" "c.5173C>T" "r.(?)" "p.(Gln1725*)" "4" "0000812414" "00018052" "70" "5727" "0" "5727" "0" "c.5727dup" "r.(?)" "p.(Leu1910Thrfs*21)" "4" "0000812416" "00018052" "70" "2042" "0" "2042" "0" "c.2042delinsAA" "r.(?)" "p.(Ile681Lysfs*17)" "4" "0000812470" "00018052" "70" "2749" "0" "2749" "0" "c.2749C>T" "r.(?)" "p.(Gln917*)" "4" "0000812486" "00018052" "70" "1498" "0" "1499" "0" "c.1498_1499del" "r.(?)" "p.(Met500Valfs*7)" "4" "0000812487" "00018052" "70" "4105" "0" "4105" "0" "c.4105C>T" "r.(?)" "p.(Gln1369*)" "4" "0000812536" "00018052" "90" "4306" "0" "4306" "0" "c.4306del" "r.(?)" "p.(Ser1436Profs*16)" "" "0000812537" "00018052" "70" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "" "0000812559" "00018052" "70" "4690" "0" "4690" "0" "c.4690del" "r.(?)" "p.(Val1564*)" "" "0000812631" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000812839" "00018052" "70" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Gln1602*)" "" "0000812840" "00018052" "90" "253" "0" "253" "0" "c.253dup" "r.(?)" "p.(Thr85Asnfs*50)" "" "0000812937" "00018052" "70" "3544" "0" "3545" "0" "c.3544_3545insAGAAAAGCTG" "r.(?)" "p.(Ala1182Glufs*20)" "" "0000812938" "00018052" "70" "3544" "0" "3545" "0" "c.3544_3545insAGAAAAGCTG" "r.(?)" "p.(Ala1182Glufs*20)" "" "0000813686" "00018052" "90" "788" "-2" "790" "0" "c.788-2_790delAGTAA" "r.spl" "p.(?)" "" "0000813766" "00018052" "90" "4370" "0" "4370" "0" "c.4370C>G" "r.(?)" "p.(Ser1457*)" "" "0000814282" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "4" "0000814788" "00018052" "70" "4905" "0" "4906" "0" "c.4905_4906del" "r.(?)" "p.(Tyr1636Argfs*2)" "4" "0000814818" "00018052" "90" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "4" "0000815452" "00018052" "50" "3040" "0" "3040" "0" "c.3040G>C" "r.(?)" "p.(Asp1014His)" "" "0000815453" "00018052" "50" "4336" "0" "4336" "0" "c.4336G>A" "r.(?)" "p.(Glu1446Lys)" "" "0000815610" "00018052" "50" "6196" "0" "6196" "0" "c.6196G>A" "r.(?)" "p.(Asp2066Asn)" "" "0000815937" "00018052" "70" "2143" "0" "2143" "0" "c.2143C>T" "r.(?)" "p.(Gln715*)" "" "0000815939" "00018052" "70" "2953" "0" "2954" "0" "c.2953_2954insTCTCC" "r.(?)" "p.(Asn985Ilefs*30)" "" "0000816108" "00018052" "70" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Gln519*)" "" "0000816135" "00018052" "70" "3790" "0" "3791" "0" "c.3790_3791del" "r.(?)" "p.(Val1264Lysfs*2)" "" "0000816151" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000816190" "00018052" "50" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Gln766*)" "" "0000816231" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000816245" "00018052" "50" "1468" "0" "1468" "0" "c.1468G>T" "r.(?)" "p.(Glu490*)" "" "0000816298" "00018052" "50" "2954" "0" "2954" "0" "c.2954A>C" "r.(?)" "p.(Asn985Thr)" "" "0000816429" "00018052" "70" "1719" "0" "1723" "0" "c.1719_1723del" "r.(?)" "p.(Ser574Cysfs*7)" "" "0000816448" "00018052" "70" "3790" "0" "3791" "0" "c.3790_3791del" "r.(?)" "p.(Val1264Lysfs*2)" "" "0000816459" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000816530" "00018052" "70" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Gly223Glufs*41)" "" "0000816703" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000816704" "00018052" "70" "2105" "0" "2108" "0" "c.2105_2108del" "r.(?)" "p.(Ile702Thrfs*10)" "" "0000816705" "00018052" "70" "5017" "0" "5017" "0" "c.5017del" "r.(?)" "p.(Tyr1673Metfs*37)" "" "0000816706" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000816707" "00018052" "70" "2479" "0" "2479" "0" "c.2479G>C" "r.(?)" "p.(Glu827Gln)" "" "0000816708" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000816709" "00018052" "70" "2105" "0" "2108" "0" "c.2105_2108del" "r.(?)" "p.(Ile702Thrfs*10)" "" "0000816710" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000816711" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000816712" "00018052" "70" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Met479Ile)" "" "0000816713" "00018052" "70" "1234" "0" "1234" "0" "c.1234dup" "r.(?)" "p.(Met412Asnfs*7)" "" "0000816714" "00018052" "70" "5624" "0" "5624" "0" "c.5624G>C" "r.(?)" "p.(Gly1875Ala)" "" "0000816761" "00018052" "70" "1510" "0" "1510" "0" "c.1510T>G" "r.(?)" "p.(Ser504Ala)" "" "0000817317" "00018052" "70" "2886" "0" "2886" "0" "c.2886delA" "r.(?)" "p.(Ile964*)" "4" "0000817318" "00018052" "70" "4168" "0" "4169" "0" "c.4168_4169insT" "r.(?)" "p.(His1390Leufs*6)" "4" "0000817329" "00018052" "70" "1419" "0" "1420" "0" "c.1419_1420delTG" "r.(?)" "p.(Glu474Glyfs*12)" "4" "0000817339" "00018052" "70" "4129" "0" "4129" "0" "c.4129delG" "r.(?)" "p.(Asp1377Thrfs*20)" "4" "0000817340" "00018052" "50" "4169" "0" "4169" "0" "c.4169A>G" "r.(?)" "p.(His1390Arg)" "4" "0000817341" "00018052" "90" "4196" "0" "4196" "0" "c.4196delG" "r.(?)" "p.(Cys1399Leufs*5)" "4" "0000817342" "00018052" "90" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "4" "0000817637" "00018052" "70" "2098" "0" "2098" "0" "c.2098G>T" "r.(?)" "p.(Glu700Ter)" "" "0000817638" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "" "0000818220" "00018052" "90" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000818221" "00018052" "90" "6098" "0" "6098" "0" "c.6098G>A" "r.(?)" "p.(Cys2033Tyr)" "4" "0000818222" "00018052" "90" "2623" "0" "2623" "0" "c.2623G>A" "r.(?)" "p.(Asp875Asn)" "4" "0000818223" "00018052" "90" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000818224" "00018052" "90" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "4" "0000818225" "00018052" "90" "5175" "0" "5175" "0" "c.5175A>G" "r.(=)" "p.(=)" "4" "0000818227" "00018052" "90" "2623" "0" "2623" "0" "c.2623G>A" "r.(?)" "p.(Asp875Asn)" "4" "0000818228" "00018052" "90" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000818229" "00018052" "90" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "4" "0000818230" "00018052" "90" "5175" "0" "5175" "0" "c.5175A>G" "r.(=)" "p.(=)" "4" "0000818231" "00018052" "90" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000818232" "00018052" "90" "6098" "0" "6098" "0" "c.6098G>A" "r.(?)" "p.(Cys2033Tyr)" "4" "0000818609" "00018052" "70" "4218" "0" "4221" "0" "c.4218_4221del" "r.(?)" "p.(Glu1407Glnfs*10)" "" "0000818610" "00018052" "70" "4218" "0" "4221" "0" "c.4218_4221del" "r.(?)" "p.(Glu1407Glnfs*10)" "" "0000818611" "00018052" "70" "4218" "0" "4221" "0" "c.4218_4221del" "r.(?)" "p.(Glu1407Glnfs*10)" "" "0000818612" "00018052" "70" "4218" "0" "4221" "0" "c.4218_4221del" "r.(?)" "p.(Glu1407Glnfs*10)" "" "0000819044" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "" "0000819064" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "" "0000819087" "00018052" "70" "227" "0" "227" "0" "c.227T>C" "r.(?)" "p.(Leu76Pro)" "" "0000819436" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000819437" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000819453" "00018052" "70" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "" "0000819893" "00018052" "70" "615" "1" "615" "1" "c.615+1G>A" "r.spl" "p.(?)" "" "0000819964" "00018052" "70" "2329" "0" "2329" "0" "c.2329dup" "r.(?)" "p.(Arg777Lysfs*4)" "" "0000819965" "00018052" "70" "2329" "0" "2329" "0" "c.2329dup" "r.(?)" "p.(Arg777Lysfs*4)" "" "0000819966" "00018052" "70" "2329" "0" "2329" "0" "c.2329dup" "r.(?)" "p.(Arg777Lysfs*4)" "" "0000819967" "00018052" "70" "2329" "0" "2329" "0" "c.2329dup" "r.(?)" "p.(Arg777Lysfs*4)" "" "0000820173" "00018052" "70" "2332" "0" "2332" "0" "c.2332A>T" "r.(?)" "p.(Lys778*)" "" "0000820174" "00018052" "70" "2332" "0" "2332" "0" "c.2332A>T" "r.(?)" "p.(Lys778*)" "" "0000820175" "00018052" "70" "2332" "0" "2332" "0" "c.2332A>T" "r.(?)" "p.(Lys778*)" "" "0000820245" "00018052" "70" "2161" "0" "2161" "0" "c.2161del" "r.(?)" "p.(Gly723Glufs*15)" "" "0000820264" "00018052" "70" "2700" "0" "2700" "0" "c.2700dup" "r.(?)" "p.(Pro901Thrfs*2)" "" "0000820280" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000820297" "00018052" "70" "4218" "0" "4221" "0" "c.4218_4221del" "r.(?)" "p.(Glu1407Glnfs*10)" "" "0000820342" "00018052" "70" "3690" "0" "3690" "0" "c.3690del" "r.(?)" "p.(Gly1231Glufs*24)" "" "0000820376" "00018052" "70" "2589" "0" "2590" "0" "c.2589_2590del" "r.(?)" "p.(Ile864Asnfs*9)" "" "0000820428" "00018052" "70" "2161" "0" "2161" "0" "c.2161del" "r.(?)" "p.(Gly723Glufs*15)" "" "0000820490" "00018052" "70" "2108" "0" "2108" "0" "c.2108del" "r.(?)" "p.(Asn703Thrfs*10)" "" "0000820491" "00018052" "70" "2113" "0" "2113" "0" "c.2113A>T" "r.(?)" "p.(Lys705*)" "" "0000820525" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000820577" "00018052" "70" "788" "-2" "788" "-2" "c.788-2A>T" "r.spl" "p.(?)" "" "0000820984" "00018052" "70" "188" "0" "188" "0" "c.188T>C" "r.(?)" "p.(Phe63Ser)" "" "0000821022" "00018052" "70" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Pro86Thr)" "" "0000821362" "00018052" "70" "2083" "0" "2083" "0" "c.2083del" "r.(?)" "p.(Ile695Phefs*8)" "" "0000821363" "00018052" "90" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(Gln686*)" "" "0000821364" "00018052" "90" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000821365" "00018052" "70" "1498" "0" "1499" "0" "c.1498_1499del" "r.(?)" "p.(Met500Valfs*7)" "" "0000821366" "00018052" "90" "3843" "0" "3843" "0" "c.3843del" "r.(?)" "p.(Pro1282Leufs*12)" "" "0000821367" "00018052" "90" "2172" "0" "2185" "0" "c.2172_2185del" "r.(?)" "p.(Ile725Argfs*6)" "" "0000821368" "00018052" "70" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "" "0000821369" "00018052" "70" "2596" "0" "2597" "0" "c.2596_2597del" "r.(?)" "p.(Leu866Lysfs*7)" "" "0000821370" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000821371" "00018052" "90" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000821372" "00018052" "70" "2032" "0" "2032" "0" "c.2032C>T" "r.(?)" "p.(Gln678*)" "" "0000821373" "00018052" "70" "2656" "0" "2656" "0" "c.2656C>T" "r.(?)" "p.(Gln886*)" "" "0000821374" "00018052" "90" "3843" "0" "3843" "0" "c.3843del" "r.(?)" "p.(Pro1282Leufs*12)" "" "0000821375" "00018052" "70" "2321" "0" "2321" "0" "c.2321del" "r.(?)" "p.(Leu774*)" "" "0000821466" "00018052" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000821598" "00018052" "70" "616" "-6" "616" "-6" "c.616-6T>C" "r.spl" "p.(?)" "" "0000821599" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000821600" "00018052" "70" "5883" "0" "5883" "0" "c.5883del" "r.(?)" "p.(Thr1962Glnfs*15)" "" "0000822121" "00018052" "70" "1118" "0" "1118" "0" "c.1118C>T" "r.(?)" "p.(Thr373Ile)" "4" "0000822122" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000822295" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "4" "0000822371" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "4" "0000822380" "00018052" "70" "-12" "-1431" "6757" "0" "c.-12-1431_*286del" "r.?" "p.?" "1i_4" "0000822381" "00018052" "70" "-12" "-1431" "6757" "0" "c.-12-1431_*286del" "r.?" "p.?" "1i_4" "0000822767" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000822779" "00018052" "70" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Glu661*)" "" "0000822789" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000822792" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000822793" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000822794" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000822795" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000822796" "00018052" "70" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000822798" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000822800" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000822803" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000822811" "00018052" "70" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "" "0000822825" "00018052" "70" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689*)" "" "0000822832" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000822846" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000822847" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000822936" "00018052" "70" "1462" "0" "1462" "0" "c.1462del" "r.(?)" "p.(Glu488Lysfs*44)" "" "0000822937" "00018052" "70" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "" "0000822938" "00018052" "70" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Trp349*)" "" "0000822975" "00018052" "70" "310" "0" "310" "0" "c.310T>C" "r.(?)" "p.(Tyr104His)" "" "0000824129" "00018052" "90" "2041" "0" "2041" "0" "c.2041dup" "r.(?)" "p.(Ile681Asnfs*17)" "" "0000824167" "00018052" "90" "2041" "0" "2041" "0" "c.2041dup" "r.(?)" "p.(Ile681Asnfs*17)" "" "0000824347" "00018052" "90" "2333" "0" "2334" "0" "c.2333_2334dup" "r.(?)" "p.(Ser779Asnfs*5)" "4" "0000824348" "00018052" "90" "2380" "0" "2380" "0" "c.2380G>T" "r.(?)" "p.(Glu794*)" "4" "0000824355" "00018052" "90" "2288" "0" "2288" "0" "c.2288del" "r.(?)" "p.(Asn763Ilefs*12)" "4_5" "0000824356" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000824367" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000824377" "00018052" "90" "2117" "0" "2117" "0" "c.2117del" "r.(?)" "p.(Gly706Valfs*7)" "4" "0000824387" "00018052" "70" "980" "0" "980" "0" "c.980A>C" "r.(?)" "p.(Gln327Pro)" "4" "0000824414" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000824643" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000824655" "00018052" "50" "4743" "0" "4743" "0" "c.4743dup" "r.(?)" "p.(Cys1582MetfsTer9)" "" "0000824659" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000824680" "00018052" "50" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399LeufsTer5)" "" "0000824694" "00018052" "50" "650" "0" "650" "0" "c.650del" "r.(?)" "p.(Gly217GlufsTer47)" "" "0000824737" "00018052" "50" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061SerfsTer12)" "" "0000824742" "00018052" "90" "650" "0" "650" "0" "c.650del" "r.(?)" "p.(Gly217GlufsTer47)" "" "0000824745" "00018052" "50" "5665" "0" "5665" "0" "c.5665C>T" "r.(?)" "p.(Gln1889Ter)" "" "0000824761" "00018052" "50" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061SerfsTer12)" "" "0000824773" "00018052" "50" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "" "0000824783" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000824805" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000824807" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000825684" "00018052" "70" "4743" "0" "4743" "0" "c.4743dup" "r.(?)" "p.(Cys1582Metfs*9)" "4" "0000825685" "00018052" "70" "5531" "0" "5531" "0" "c.5531dup" "r.(?)" "p.(Glu1845Glyfs*13)" "4" "0000825781" "00018052" "70" "426" "0" "426" "0" "c.426dup" "r.(?)" "p.(Ala143Serfs*86)" "2" "0000825982" "00018052" "70" "1625" "0" "1629" "0" "c.1625_1629del" "r.(?)" "p.(Ser542Cysfs*20)" "4" "0000825983" "00018052" "70" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "4" "0000825984" "00018052" "70" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Pro86Thr)" "2" "0000826074" "00018052" "70" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Pro86Thr)" "2" "0000826075" "00018052" "70" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Tyr41Cys)" "2" "0000826191" "00018052" "70" "257" "0" "257" "0" "c.257dup" "r.(?)" "p.(Arg87Serfs*48)" "2" "0000826192" "00018052" "70" "20" "0" "20" "0" "c.20del" "r.(?)" "p.(Thr7Metfs*21)" "2" "0000826218" "00018052" "70" "1938" "0" "1941" "0" "c.1938_1941del" "r.(?)" "p.(Ile646Metfs*8)" "4" "0000826219" "00018052" "70" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "4" "0000826284" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000826373" "00018052" "70" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Gln1602*)" "4" "0000826374" "00018052" "70" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "4" "0000826382" "00018052" "70" "1938" "0" "1941" "0" "c.1938_1941del" "r.(?)" "p.(Ile646Metfs*8)" "4" "0000826383" "00018052" "70" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "4" "0000826955" "00018052" "50" "491" "0" "491" "0" "c.491C>G" "r.(?)" "p.(Pro164Arg)" "" "0000827172" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000827173" "00018052" "90" "2447" "0" "2447" "0" "c.2447dup" "r.(?)" "p.(Asn816Lysfs*9)" "4" "0000827174" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000827175" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000827176" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000827177" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000827178" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000827179" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000827180" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000827181" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000827182" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000827183" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000827184" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000827322" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000827323" "00018052" "90" "5962" "0" "5962" "0" "c.5962dup" "r.(?)" "p.(Ile1988Asnfs*3)" "4" "0000827324" "00018052" "90" "1234" "0" "1234" "0" "c.1234dup" "r.(?)" "p.(Met412Asnfs*7)" "4" "0000827325" "00018052" "90" "1720" "0" "1721" "0" "c.1720_1721del" "r.(?)" "p.(Ser574Asnfs*8)" "4" "0000827326" "00018052" "90" "5962" "0" "5962" "0" "c.5962dup" "r.(?)" "p.(Ile1988Asnfs*3)" "4" "0000827327" "00018052" "90" "5962" "0" "5962" "0" "c.5962dup" "r.(?)" "p.(Ile1988Asnfs*3)" "4" "0000827328" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000827329" "00018052" "90" "788" "-1" "788" "-1" "c.788-1G>C" "r.spl?" "p.?" "3i" "0000828880" "00018052" "90" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Gln1602*)" "" "0000828881" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000828882" "00018052" "90" "2290" "0" "2290" "0" "c.2290dup" "r.(?)" "p.(Thr764Asnfs*17)" "" "0000828926" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000829056" "00018052" "70" "2172" "0" "2185" "0" "c.2172_2185del" "r.(?)" "p.(Ile725Argfs*6)" "" "0000829057" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000829058" "00018052" "70" "2206" "0" "2206" "0" "c.2206dup" "r.(?)" "p.(Thr736Asnfs*4)" "" "0000829779" "00018052" "70" "160" "0" "160" "0" "c.160del" "r.(?)" "p.(Val54Trpfs*27)" "" "0000829858" "00018052" "90" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "4" "0000829859" "00018052" "90" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "4" "0000829863" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.?" "4" "0000829865" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.?" "4" "0000829866" "00018052" "90" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "4" "0000829867" "00018052" "90" "6353" "0" "6353" "0" "c.6353G>A" "r.(?)" "p.(Ser2118Asn)" "4" "0000829872" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.?" "4" "0000829873" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000829890" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.?" "4" "0000829926" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.?" "4" "0000829939" "00018052" "90" "2143" "0" "2143" "0" "c.2143C>T" "r.(?)" "p.(Gln715*)" "4" "0000841436" "00018052" "90" "662" "0" "662" "0" "c.662del" "r.(?)" "p.(Ala221Glyfs*43)" "" "0000841437" "00018052" "90" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000851946" "00018052" "50" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.(Asp100Tyr)" "" "0000851947" "00018052" "30" "1632" "0" "1632" "0" "c.1632A>G" "r.(?)" "p.(Ala544=)" "" "0000851948" "00018052" "90" "1986" "0" "1986" "0" "c.1986del" "r.(?)" "p.(Lys663Argfs*19)" "" "0000851949" "00018052" "30" "2413" "0" "2413" "0" "c.2413A>G" "r.(?)" "p.(Asn805Asp)" "" "0000851950" "00018052" "50" "2940" "0" "2942" "0" "c.2940_2942del" "r.(?)" "p.(Leu981del)" "" "0000851951" "00018052" "50" "4456" "0" "4456" "0" "c.4456G>A" "r.(?)" "p.(Gly1486Arg)" "" "0000851952" "00018052" "50" "4892" "0" "4892" "0" "c.4892C>G" "r.(?)" "p.(Ala1631Gly)" "" "0000851953" "00018052" "50" "5150" "0" "5150" "0" "c.5150A>G" "r.(?)" "p.(Asp1717Gly)" "" "0000851954" "00018052" "10" "5701" "0" "5701" "0" "c.5701C>T" "r.(?)" "p.(Leu1901Phe)" "" "0000851955" "00018052" "50" "6323" "0" "6323" "0" "c.6323T>G" "r.(?)" "p.(Ile2108Ser)" "" "0000861239" "00018052" "50" "368" "0" "382" "0" "c.368_382del" "r.(?)" "p.(Arg123_Trp127del)" "" "0000861240" "00018052" "30" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Asp163Asn)" "" "0000861241" "00018052" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Ala218Thr)" "" "0000861242" "00018052" "50" "1779" "0" "1779" "0" "c.1779G>T" "r.(?)" "p.(Lys593Asn)" "" "0000861243" "00018052" "50" "2024" "0" "2024" "0" "c.2024A>T" "r.(?)" "p.(Lys675Ile)" "" "0000861244" "00018052" "70" "2122" "0" "2122" "0" "c.2122del" "r.(?)" "p.(Ile708Leufs*5)" "" "0000861245" "00018052" "90" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414GlnfsTer5)" "" "0000861246" "00018052" "70" "4600" "0" "4600" "0" "c.4600dup" "r.(?)" "p.(Thr1534Asnfs*10)" "" "0000870992" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Ter)" "" "0000871595" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871596" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871597" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871598" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871599" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871600" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871601" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871602" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871603" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871604" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871605" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871606" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871607" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871608" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871609" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871610" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871611" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871612" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871613" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871614" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871615" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871616" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871617" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000871618" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000871619" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000871620" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "4" "0000871621" "00018052" "70" "2287" "0" "2290" "0" "c.2287_2290del" "r.(?)" "p.(Asn763Leufs*11)" "4" "0000871622" "00018052" "70" "2287" "0" "2290" "0" "c.2287_2290del" "r.(?)" "p.(Asn763Leufs*11)" "4" "0000871623" "00018052" "70" "2287" "0" "2290" "0" "c.2287_2290del" "r.(?)" "p.(Asn763Leufs*11)" "4" "0000871624" "00018052" "70" "2287" "0" "2290" "0" "c.2287_2290del" "r.(?)" "p.(Asn763Leufs*11)" "4" "0000871625" "00018052" "70" "2287" "0" "2290" "0" "c.2287_2290del" "r.(?)" "p.(Asn763Leufs*11)" "4" "0000871626" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871627" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871628" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871629" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871630" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871631" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871632" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871633" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871634" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871635" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871636" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871637" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871638" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871639" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871640" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871641" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871642" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871645" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871646" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000871651" "00018052" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871658" "00018052" "50" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249His)" "3" "0000871659" "00018052" "50" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Met479Ile)" "4" "0000871660" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000871661" "00018052" "10" "2181" "0" "2181" "0" "c.2181T>G" "r.(?)" "p.(Cys727Trp)" "4" "0000871662" "00018052" "10" "2181" "0" "2181" "0" "c.2181T>G" "r.(?)" "p.(Cys727Trp)" "4" "0000871663" "00018052" "90" "2951" "0" "2951" "0" "c.2951A>G" "r.(?)" "p.(Asp984Gly)" "4" "0000871664" "00018052" "90" "2951" "0" "2951" "0" "c.2951A>G" "r.(?)" "p.(Asp984Gly)" "4" "0000871665" "00018052" "50" "6492" "0" "6492" "0" "c.*21T>G" "r.(?)" "p.?" "" "0000871667" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "3" "0000871668" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "3" "0000871669" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "3" "0000871670" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "3" "0000871671" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "3" "0000871672" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "3" "0000871673" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "3" "0000871674" "00018052" "70" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "3" "0000871675" "00018052" "30" "787" "34" "787" "34" "c.787+34T>C" "r.(?)" "p.?" "3i" "0000871676" "00018052" "50" "1222" "0" "1222" "0" "c.1222A>C" "r.(?)" "p.(Ile408Leu)" "4" "0000871677" "00018052" "30" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "4" "0000871678" "00018052" "30" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "4" "0000871679" "00018052" "10" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "4" "0000871680" "00018052" "10" "2953" "0" "2953" "0" "c.2953A>T" "r.(?)" "p.(Asn985Tyr)" "4" "0000871681" "00018052" "30" "3024" "0" "3024" "0" "c.3024G>A" "r.(?)" "p.(Gln1008=)" "4" "0000871682" "00018052" "70" "4108" "0" "4108" "0" "c.4108A>G" "r.(?)" "p.(Lys1370Glu)" "4" "0000871683" "00018052" "70" "4955" "0" "4955" "0" "c.4955G>T" "r.(?)" "p.(Arg1652Leu)" "4" "0000871684" "00018052" "10" "5008" "0" "5008" "0" "c.5008G>A" "r.(?)" "p.(Ala1670Thr)" "4" "0000871685" "00018052" "10" "5071" "0" "5071" "0" "c.5071T>C" "r.(?)" "p.(Ser1691Pro)" "4" "0000871686" "00018052" "10" "5175" "0" "5175" "0" "c.5175A>G" "r.(?)" "p.(Gln1725=)" "4" "0000871687" "00018052" "30" "6045" "0" "6045" "0" "c.6045A>G" "r.(?)" "p.(Leu2015=)" "4" "0000871688" "00018052" "10" "6098" "0" "6098" "0" "c.6098G>A" "r.(?)" 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"p.(Asn1751Ilefs*4)" "4" "0000871797" "00018052" "70" "686" "0" "686" "0" "c.686del" "r.(?)" "p.(Pro229Glnfs*35)" "4" "0000871798" "00018052" "70" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "4" "0000871799" "00018052" "70" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Gln1602*)" "4" "0000871800" "00018052" "70" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Gln1602*)" "4" "0000871801" "00018052" "70" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "4" "0000871802" "00018052" "70" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "4" "0000871804" "00018052" "70" "3697" "0" "3697" "0" "c.3697del" "r.(?)" "p.(Ser1233Profs*22)" "4" "0000871805" "00018052" "70" "3697" "0" "3697" "0" "c.3697del" "r.(?)" "p.(Ser1233Profs*22)" "4" "0000871806" "00018052" "70" "3697" "0" "3697" "0" "c.3697del" "r.(?)" "p.(Ser1233Profs*22)" "4" "0000871807" "00018052" "70" "3697" "0" "3697" "0" "c.3697del" "r.(?)" 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"p.(Tyr834*)" "4" "0000871831" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000871832" "00018052" "70" "2371" "0" "2371" "0" "c.2371delA" "r.(?)" "p.(Arg793Glufs*55)" "4" "0000871833" "00018052" "70" "6179" "0" "6179" "0" "c.6179delA" "r.(?)" "p.(Ile2061Serfs*12)" "4" "0000871836" "00018052" "70" "1498" "0" "1499" "0" "c.1498_1499del" "r.(?)" "p.(Met500Valfs*7)" "4" "0000871837" "00018052" "70" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "4" "0000871838" "00018052" "70" "2025" "0" "2025" "0" "c.2025dup" "r.(?)" "p.(Ser676IlefsTer22)" "4" "0000871839" "00018052" "70" "5105" "0" "5109" "0" "c.5105_5109del" "r.(?)" "p.(Asp1702ValfsTer2)" "4" "0000871845" "00018052" "70" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Gln1916*)" "" "0000871846" "00018052" "70" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Gln1916*)" "" "0000871847" "00018052" "70" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Gln1916*)" "" "0000871848" "00018052" "70" "539" "0" "539" "0" "c.539T>G" "r.(?)" "p.(Phe180Cys)" "" "0000871849" "00018052" "70" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "" "0000871850" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000871851" "00018052" "70" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "" "0000871852" "00018052" "70" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "" "0000871853" "00018052" "70" "2041" "0" "2041" "0" "c.2041dup" "r.(?)" "p.(Ile681Asnfs*17)" "" "0000871854" "00018052" "70" "1498" "0" "1499" "0" "c.1498_1499delAT" "r.(?)" "p.(Met500Valfs*7)" "" "0000871855" "00018052" "70" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "" "0000871856" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000871857" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000871858" "00018052" "70" "2285" "0" "2289" "0" "c.2285_2289del" "r.(?)" "p.(Leu762Tyrfs*17)" "" "0000871859" "00018052" "70" "2732" "0" "2732" "0" "c.2732C>G" "r.(?)" "p.(Ser911*)" "" "0000871860" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000871861" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "" "0000871862" "00018052" "70" "71" "0" "71" "0" "c.71dup" "r.(?)" "p.(Arg25Serfs*37)" "" "0000871863" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000871864" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000871865" "00018052" "70" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000871866" "00018052" "70" "4242" "0" "4243" "0" "c.4242_4243del" "r.(?)" "p.(His1414Glnfs*5)" "" "0000871867" "00018052" "70" "539" "0" "539" "0" "c.539T>G" "r.(?)" "p.(Phe180Cys)" "" "0000871868" "00018052" "70" "1001" "0" "1001" "0" "c.1001dupA" "r.(?)" "p.(Met335Aspfs*21)" "" "0000871869" "00018052" "70" "569" "0" "569" "0" "c.569T>G" "r.(?)" "p.(Val190Gly)" "" "0000871870" "00018052" "70" "569" "0" "569" "0" "c.569T>G" "r.(?)" "p.(Val190Gly)" "" "0000871871" "00018052" "70" "3132" "0" "3133" "0" "c.3132_3133del" "r.(?)" "p.(Lys1044Asnfs*16)" "" "0000871937" "00018052" "70" "2098" "0" "2098" "0" "c.2098G>T" "r.(?)" "p.(Glu700*)" "" "0000873476" "00018052" "70" "1437" "0" "1437" "0" "c.1437G>T" "r.(?)" "p.(Met479Ile)" "" "0000881445" "00018052" "90" "2953" "0" "2956" "0" "c.2953_2956del" "r.(?)" "p.(Asn985Tyrfs*27)" "" "0000888378" "00018052" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Tyr251=)" "" "0000888379" "00018052" "50" "1045" "0" "1045" "0" "c.1045T>A" "r.(?)" "p.(Trp349Arg)" "" "0000888380" "00018052" "50" "3248" "0" "3248" "0" "c.3248T>C" "r.(?)" "p.(Leu1083Ser)" "" "0000888381" "00018052" "50" "3589" "0" "3589" "0" "c.3589A>G" "r.(?)" "p.(Ser1197Gly)" "" "0000888382" "00018052" "50" "3641" "0" "3641" "0" "c.3641C>T" "r.(?)" "p.(Thr1214Met)" "" "0000888383" "00018052" "30" "4131" "0" "4131" "0" "c.4131C>T" "r.(?)" "p.(Asp1377=)" "" "0000888384" "00018052" "50" "5116" "0" "5116" "0" "c.5116G>A" "r.(?)" "p.(Val1706Ile)" "" "0000888385" "00018052" "50" "6327" "0" "6327" "0" "c.6327C>A" "r.(?)" "p.(Cys2109*)" "" "0000896466" "00018052" "90" "4804" "0" "4804" "0" "c.4804C>T" "r.(?)" "p.(Gln1602Ter)" "" "0000896606" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000896651" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Ter)" "" "0000896721" "00018052" "90" "2290" "0" "2290" "0" "c.2290dupA" "r.(?)" "p.(Thr764AsnfsTer17)" "" "0000902117" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902118" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902119" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902120" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902121" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902122" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902123" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902124" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902125" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902126" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902127" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902128" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902129" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902130" "00018052" "70" "143" "0" "143" "0" "c.143delT" "r.(?)" "p.(Phe48Serfs*33)" "" "0000902131" "00018052" "70" "143" "0" "143" "0" "c.143delT" "r.(?)" "p.(Phe48Serfs*33)" "" "0000902132" "00018052" "70" "143" "0" "143" "0" "c.143delT" "r.(?)" "p.(Phe48Serfs*33)" "" "0000902133" "00018052" "70" "151" "0" "151" "0" "c.151dupG" "r.(?)" "p.(Val51Glyfs*11)" "" "0000902134" "00018052" "70" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Glu661*)" "" "0000902135" "00018052" "70" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Glu661*)" "" "0000902136" "00018052" "70" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Glu661*)" "" "0000902137" "00018052" "70" "3419" "0" "3419" "0" "c.3419delG" "r.(?)" "p.(Gly1140Glufs*3)" "" "0000902138" "00018052" "70" "3419" "0" "3419" "0" "c.3419delG" "r.(?)" "p.(Gly1140Glufs*3)" "" "0000902139" "00018052" "70" "5881" "0" "5881" "0" "c.5881C>T" "r.(?)" "p.(Gln1961*)" "" "0000902140" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396*)" "" "0000902141" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000902142" "00018052" "90" "3843" "0" "3843" "0" "c.3843del" "r.(?)" "p.(Pro1282Leufs*12)" "4" "0000902143" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000902144" "00018052" "90" "469" "0" "469" "0" "c.469del" "r.(?)" "p.(Val157Trpfs*16)" "" "0000902145" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396*)" "4" "0000902146" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396*)" "" "0000902147" "00018052" "90" "1265" "0" "1265" "0" "c.1265dup" "r.(?)" "p.(Ala423Cysfs*2)" "4" "0000902148" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000902149" "00018052" "90" "1234" "0" "1234" "0" "c.1234dup" "r.(?)" "p.(Met412Asnfs*7)" "4" "0000902151" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902152" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902153" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902154" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902155" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902156" "00018052" "90" "5805" "0" "5805" "0" "c.5805dup" "r.(?)" "p.(Ala1936Cysfs*7)" "" "0000902157" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499del" "r.(?)" "p.(Met500Valfs*7)" "" "0000902158" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499del" "r.(?)" "p.(Met500Valfs*7)" "" "0000902159" "00018052" "90" "3669" "0" "3669" "0" "c.3669C>A" "r.(?)" "p.(Cys1223*)" "" "0000902160" "00018052" "90" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "" "0000902161" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902162" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902163" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902164" "00018052" "70" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Asp202Glu)" "" "0000902165" "00018052" "70" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Lys42Asn)" "" "0000902166" "00018052" "90" "1462" "0" "1462" "0" "c.1462delG" "r.(?)" "p.(Glu488Lysfs*44)" "" "0000902167" "00018052" "90" "3428" "0" "3428" "0" "c.3428delA" "r.(?)" "p.(Asn1143Ilefs*25)" "" "0000902168" "00018052" "70" "4788" "0" "4788" "0" "c.4788delT" "r.(?)" "p.(Asp1597Thrfs*29)" "" "0000902169" "00018052" "70" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Gly223Glufs*41)" "" "0000902170" "00018052" "70" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Gly223Glufs*41)" "" "0000902171" "00018052" "90" "1234" "0" "1234" "0" "c.1234dupA" "r.(?)" "p.(Met412Asnfs*7)" "" "0000902172" "00018052" "70" "491" "0" "491" "0" "c.491C>G" "r.(?)" "p.(Pro164Arg)" "" "0000902173" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000902174" "00018052" "70" "5017" "0" "5017" "0" "c.5017delT" "r.(?)" "p.(Tyr1673Metfs*37)" "" "0000902175" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000902176" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000902177" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000902178" "00018052" "70" "139" "0" "139" "0" "c.139dup" "r.(?)" "p.(Gln47Profs*15)" "" "0000902179" "00018052" "70" "121" "0" "121" "0" "c.121T>C" "r.(?)" "p.(Tyr41His)" "" "0000902180" "00018052" "70" "312" "0" "315" "0" "c.312_315delCCTA" "r.(?)" "p.(Leu105Valfs*10)" "" "0000902181" "00018052" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "" "0000902182" "00018052" "70" "1468" "0" "1468" "0" "c.1468G>T" "r.(?)" "p.(Glu490*)" "" "0000902183" "00018052" "70" "4171" "0" "4171" "0" "c.4171delC" "r.(?)" "p.(Gln1391Lysfs*7)" "" "0000902184" "00018052" "70" "1199" "0" "1200" "0" "c.1199_1200del" "r.(?)" "p.(Gln400Argfs*18)" "" "0000902185" "00018052" "90" "3155" "0" "3155" "0" "c.3155delT" "r.(?)" "p.(Tyr1053Thrfs*4)" "" "0000902186" "00018052" "90" "4582" "0" "4585" "0" "c.4582_4585delATCA" "r.(?)" "p.(Ile1528Valfs*10)" "" "0000902187" "00018052" "90" "4582" "0" "4585" "0" "c.4582_4585delATCA" "r.(?)" "p.(Ile1528Valfs*10)" "" "0000902188" "00018052" "90" "1598" "0" "1601" "0" "c.1598_1601del" "r.(?)" "p.(Arg533Lysfs*12)" "" "0000902189" "00018052" "90" "5248" "0" "5248" "0" "c.5248G>T" "r.(?)" "p.(Glu1750*)" "" "0000902190" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0000902207" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902208" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902209" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902210" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902211" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902212" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902213" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902214" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902215" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902216" "00018052" "90" "4196" "0" "4196" "0" "c.4196delG" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000902217" "00018052" "90" "4196" "0" "4196" "0" "c.4196delG" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000902218" "00018052" "90" "4196" "0" "4196" "0" "c.4196delG" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000902219" "00018052" "90" "4196" "0" "4196" "0" "c.4196delG" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000902228" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902229" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902230" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902231" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902232" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352Alafs*9)" "" "0000902233" "00018052" "90" "4582" "0" "4585" "0" "c.4582_4585del" "r.(?)" "p.(Ile1528Valfs*10)" "" "0000902234" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000902235" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000902236" "00018052" "50" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "" "0000902237" "00018052" "90" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399Leufs*5)" "" "0000902283" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Ter)" "" "0000902284" "00018052" "70" "2599" "0" "2599" "0" "c.2599A>T" "r.(?)" "p.(Lys867Ter)" "" "0000902285" "00018052" "70" "2557" "0" "2557" "0" "c.2557A>T" "r.(?)" "p.(Lys853Ter)" "" "0000902286" "00018052" "70" "2613" "0" "2613" "0" "c.2613dupA" "r.(?)" "p.(Arg872ThrfsTer2)" "" "0000902287" "00018052" "70" "2032" "0" "2032" "0" "c.2032C>T" "r.(?)" "p.(Gln678Ter)" "" "0000902288" "00018052" "70" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "" "0000902289" "00018052" "90" "2020" "0" "2020" "0" "c.2020dupA" "r.(?)" "p.(Ser676IlefsTer22)" "" "0000902290" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902291" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902292" "00018052" "90" "3669" "0" "3669" "0" "c.3669C>A" "r.(?)" "p.(Cys1223Ter)" "" "0000902293" "00018052" "90" "3669" "0" "3669" "0" "c.3669C>A" "r.(?)" "p.(Cys1223Ter)" "" "0000902294" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902295" "00018052" "90" "4196" "0" "4196" "0" "c.4196delG" "r.(?)" "p.(Cys1399LeufsTer5)" "" "0000902296" "00018052" "90" "4196" "0" "4196" "0" "c.4196delG" "r.(?)" "p.(Cys1399LeufsTer5)" "" "0000902297" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902298" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902299" "00018052" "90" "3843" "0" "3843" "0" "c.3843dupT" "r.(?)" "p.(Pro1282SerfsTer2)" "" "0000902300" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499delAT" "r.(?)" "p.(Met500ValfsTer7)" "" "0000902301" "00018052" "50" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Arg131Gln)" "" "0000902302" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499delAT" "r.(?)" "p.(Met500ValfsTer7)" "" "0000902303" "00018052" "90" "1498" "0" "1499" "0" "c.1498_1499delAT" "r.(?)" "p.(Met500ValfsTer7)" "" "0000902304" "00018052" "90" "2377" "0" "2377" "0" "c.2377delA" "r.(?)" "p.(Arg793GlufsTer55)" "" "0000902305" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902306" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902307" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902308" "00018052" "30" "5913" "0" "5913" "0" "c.5913C>A" "r.(?)" "p.(Asn1971Lys)" "" "0000902309" "00018052" "70" "2032" "0" "2032" "0" "c.2032C>T" "r.(?)" "p.(Gln678Ter)" "" "0000902310" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902311" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902312" "00018052" "90" "4400" "0" "4400" "0" "c.4400delC" "r.(?)" "p.(Ser1467PhefsTer5)" "" "0000902313" "00018052" "90" "4400" "0" "4400" "0" "c.4400delC" "r.(?)" "p.(Ser1467PhefsTer5)" "" "0000902314" "00018052" "90" "4196" "0" "4196" "0" "c.4196delG" "r.(?)" "p.(Cys1399LeufsTer5)" "" "0000902315" "00018052" "90" "4591" "0" "4592" "0" "c.4591_4592delAG" "r.(?)" "p.(Arg1531AlafsTer12)" "" "0000902316" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902318" "00018052" "90" "4052" "0" "4053" "0" "c.4052_4053ins328" "r.(?)" "p.(Tyr1352AlafsTer9)" "" "0000902319" "00018052" "50" "2116" "0" "2116" "0" "c.2116G>C" "r.(?)" "p.(Gly706Arg)" "" "0000902320" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000902321" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000902322" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000902323" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000902324" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000902325" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000905965" "00018052" "50" "3946" "0" "3947" "0" "c.3946_3947delinsTT" "r.(?)" "p.(Ala1316Phe)" "" "0000915795" "00018052" "70" "1601" "0" "1604" "0" "c.1601_1604del" "r.(?)" "p.(Lys534Argfs*11)" "4" "0000915814" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "2" "0000915815" "00018052" "90" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061Serfs*12)" "4" "0000915830" "00018052" "90" "1468" "0" "1468" "0" "c.1468G>T" "r.(?)" "p.(Glu490*)" "4" "0000915831" "00018052" "70" "3466" "0" "3466" "0" "c.3466A>T" "r.(?)" "p.(Lys1156*)" "4" "0000915873" "00018052" "50" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(His136Tyr)" "2" "0000915874" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000915875" "00018052" "70" "1420" "0" "4919" "0" "c.1420_4919del" "r.(?)" "p.(Glu474Tyrfs*20)" "4" "0000915876" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000915932" "00018052" "90" "2219" "0" "2219" "0" "c.2219C>G" "r.(?)" "p.(Ser740*)" "4" "0000915936" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933*)" "4" "0000915965" "00018052" "90" "" "0" "" "0" "c.(-11-?)_(*124+?)del" "r.?" "p.(0)" "" "0000915966" "00018052" "90" "3797" "0" "3797" "0" "c.3797del" "r.(?)" "p.(Lys1266Argfs*28)" "4" "0000915984" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000916007" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000916013" "00018052" "90" "2172" "0" "2185" "0" "c.2172_2185del" "r.(?)" "p.(Ile725Argfs*6)" "4" "0000916035" "00018052" "70" "2451" "0" "2452" "0" "c.2451_2452del" "r.(?)" "p.(Ser818Phefs*6)" "4" "0000916036" "00018052" "90" "2613" "0" "2613" "0" "c.2613dup" "r.(?)" "p.(Arg872Thrfs*2)" "4" "0000916073" "00018052" "90" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Gly223Glufs*41)" "3" "0000916074" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396*)" "4" "0000916220" "00018052" "70" "1183" "0" "1183" "0" "c.1183G>T" "r.(?)" "p.(Glu395*)" "4" "0000916221" "00018052" "70" "5561" "0" "5567" "0" "c.5561_5567del" "r.(?)" "p.(Glu1854Valfs*41)" "4" "0000916318" "00018052" "50" "5753" "0" "5753" "0" "c.5753G>T" "r.(?)" "p.(Cys1918Phe)" "4" "0000916397" "00018052" "90" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124Alafs*20)" "2" "0000916400" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000916422" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053Thrfs*4)" "4" "0000916434" "00018052" "90" "1234" "0" "1234" "0" "c.1234dup" "r.(?)" "p.(Met412Asnfs*7)" "4" "0000916437" "00018052" "70" "2607" "0" "2607" "0" "c.2607dup" "r.(?)" "p.(Lys870Glufs*4)" "4" "0000916438" "00018052" "50" "4473" "0" "4473" "0" "c.4473A>C" "r.(?)" "p.(Glu1491Asp)" "4" "0000916531" "00018052" "70" "965" "0" "965" "0" "c.965C>A" "r.(?)" "p.(Ser322*)" "4" "0000916547" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542*)" "4" "0000916591" "00018052" "70" "290" "0" "291" "0" "c.290_291del" "r.(?)" "p.(Glu97Alafs*37)" "2" "0000916592" "00018052" "90" "615" "2" "615" "2" "c.615+2T>A" "r.spl?" "p.(?)" "2i" "0000916615" "00018052" "70" "4897" "0" "4897" "0" "c.4897G>T" "r.(?)" "p.(Glu1633*)" "4" "0000916616" "00018052" "90" "615" "2" "615" "2" "c.615+2T>A" "r.spl?" "p.(?)" "2i" "0000916651" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396*)" "4" "0000916652" "00018052" "90" "4094" "0" "4094" "0" "c.4094del" "r.(?)" "p.(Gly1365Valfs*8)" "4" "0000916689" "00018052" "90" "1719" "0" "1723" "0" "c.1719_1723del" "r.(?)" "p.(Ser574Cysfs*7)" "4" "0000916720" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677*)" "4" "0000924883" "00018052" "50" "3413" "0" "3413" "0" "c.3413T>C" "r.(?)" "p.(Leu1138Pro)" "" "0000949085" "00018052" "90" "2430" "0" "2430" "0" "c.2430C>A" "r.(?)" "p.(Cys810Ter)" "" "0000949086" "00018052" "90" "3001" "0" "3001" "0" "c.3001G>T" "r.(?)" "p.(Glu1001*)" "" "0000949087" "00018052" "50" "3374" "0" "3374" "0" "c.3374C>A" "r.(?)" "p.(Ser1125Tyr)" "" "0000949088" "00018052" "50" "3985" "0" "3985" "0" "c.3985A>G" "r.(?)" "p.(Ile1329Val)" "" "0000949089" "00018052" "30" "5296" "0" "5296" "0" "c.5296A>C" "r.(?)" "p.(Asn1766His)" "" "0000949090" "00018052" "70" "5962" "0" "5962" "0" "c.5962dup" "r.(?)" "p.(Ile1988Asnfs*3)" "" "0000949091" "00018052" "50" "75608" "0" "75608" "0" "c.*69137A>T" "r.(=)" "p.(=)" "" "0000954068" "00018052" "90" "4196" "0" "4196" "0" "c.4196del" "r.(?)" "p.(Cys1399LeufsTer5)" "" "0000954087" "00018052" "90" "6181" "0" "6181" "0" "c.6181del" "r.(?)" "p.(Ile2061SerfsTer12)" "" "0000955420" "00018052" "90" "5326" "0" "5326" "0" "c.5326del" "r.(?)" "p.(Asp1777Ilefs*32)" "4" "0000957999" "00018052" "90" "2332" "0" "2332" "0" "c.2332A>T" "r.(?)" "p.(Lys778Ter)" "" "0000958000" "00018052" "90" "2161" "0" "2161" "0" "c.2161del" "r.(?)" "p.(Gly723GlufsTer15)" "" "0000958001" "00018052" "90" "2161" "0" "2161" "0" "c.2161del" "r.(?)" "p.(Gly723GlufsTer15)" "" "0000958025" "00018052" "90" "2332" "0" "2332" "0" "c.2332A>T" "r.(?)" "p.(Lys778Ter)" "" "0000958060" "00018052" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Arg)" "" "0000958079" "00018052" "90" "2352" "0" "2356" "0" "c.2352_2356del" "r.(?)" "p.(Ile785LeufsTer5)" "" "0000958318" "00018052" "90" "2161" "0" "2161" "0" "c.2161del" "r.(?)" "p.(Gly723GlufsTer15)" "" "0000958340" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Ter)" "" "0000958352" "00018052" "90" "271" "0" "271" "0" "c.271del" "r.(?)" "p.(Ser91AlafsTer25)" "" "0000958364" "00018052" "90" "1975" "0" "1975" "0" "c.1975A>T" "r.(?)" "p.(Lys659Ter)" "" "0000958369" "00018052" "90" "2374" "0" "2374" "0" "c.2374A>T" "r.(?)" "p.(Lys792Ter)" "" "0000958433" "00018052" "50" "4083" "0" "4083" "0" "c.4083G>T" "r.(?)" "p.(Glu1361Asp)" "" "0000958435" "00018052" "50" "4083" "0" "4083" "0" "c.4083G>T" "r.(?)" "p.(Glu1361Asp)" "" "0000958458" "00018052" "50" "6225" "0" "6225" "0" "c.6225A>C" "r.(?)" "p.(Arg2075Ser)" "" "0000958464" "00018052" "50" "1524" "0" "1524" "0" "c.1524G>A" "r.(?)" "p.(Met508Ile)" "" "0000958469" "00018052" "50" "6065" "0" "6065" "0" "c.6065A>G" "r.(?)" "p.(Lys2022Arg)" "" "0000958637" "00018052" "90" "3157" "0" "3157" "0" "c.3157del" "r.(?)" "p.(Tyr1053ThrfsTer4)" "" "0000958926" "00018052" "50" "4970" "0" "4970" "0" "c.4970G>T" "r.(?)" "p.(Cys1657Phe)" "" "0000958993" "00018052" "50" "1427" "0" "1427" "0" "c.1427A>C" "r.(?)" "p.(Gln476Pro)" "" "0000959057" "00018052" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Cys)" "" "0000959260" "00018052" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Ala218Thr)" "" "0000959310" "00018052" "70" "5825" "0" "5825" "0" "c.5825del" "r.(?)" "p.(Asp1942ValfsTer12)" "" "0000959311" "00018052" "50" "539" "0" "539" "0" "c.539T>G" "r.(?)" "p.(Phe180Cys)" "" "0000959328" "00018052" "50" "3101" "0" "3101" "0" "c.3101A>T" "r.(?)" "p.(His1034Leu)" "" "0000959329" "00018052" "50" "3358" "0" "3358" "0" "c.3358G>C" "r.(?)" "p.(Ala1120Pro)" "" "0000959330" "00018052" "50" "5805" "0" "5805" "0" "c.5805T>G" "r.(?)" "p.(Phe1935Leu)" "" "0000959363" "00018052" "50" "2011" "0" "2011" "0" "c.2011A>C" "r.(?)" "p.(Lys671Gln)" "" "0000959407" "00018052" "50" "2224" "0" "2224" "0" "c.2224A>T" "r.(?)" "p.(Thr742Ser)" "" "0000959413" "00018052" "50" "3101" "0" "3101" "0" "c.3101A>T" "r.(?)" "p.(His1034Leu)" "" "0000959414" "00018052" "50" "5805" "0" "5805" "0" "c.5805T>G" "r.(?)" "p.(Phe1935Leu)" "" "0000978228" "00018052" "50" "995" "0" "995" "0" "c.995C>G" "r.(?)" "p.(Thr332Arg)" "" "0000978229" "00018052" "50" "6307" "0" "6307" "0" "c.6307del" "r.(?)" "p.(Ala2103Leufs*4)" "" "0000985487" "00018052" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Ter)" "" "0000986565" "00018052" "50" "3101" "0" "3101" "0" "c.3101A>T" "r.(?)" "p.(His1034Leu)" "4" "0000986566" "00018052" "70" "273" "0" "273" "0" "c.273del" "r.(?)" "p.(Ser91ArgfsTer25)" "2" "0000986955" "00018052" "50" "5805" "0" "5805" "0" "c.5805T>G" "r.(?)" "p.(Phe1935Leu)" "4" "0000986956" "00018052" "90" "5105" "0" "5109" "0" "c.5105_5109del" "r.(?)" "p.(Asp1702ValfsTer2)" "4" "0000987066" "00018052" "70" "5866" "0" "5866" "0" "c.5866del" "r.(?)" "p.(His1956ThrfsTer21)" "" "0000987067" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000987068" "00018052" "90" "5797" "0" "5797" "0" "c.5797C>T" "r.(?)" "p.(Arg1933Ter)" "" "0000987311" "00018052" "90" "1625" "0" "1625" "0" "c.1625C>G" "r.(?)" "p.(Ser542Ter)" "" "0000997209" "00018052" "50" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25His)" "" "0000997210" "00018052" "50" "368" "0" "369" "0" "c.368_369dup" "r.(?)" "p.(Pro124AlafsTer20)" "" "0000997211" "00018052" "50" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Ser279Phe)" "" "0000997212" "00018052" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000997213" "00018052" "50" "1037" "0" "1037" "0" "c.1037C>A" "r.(?)" "p.(Thr346Asn)" "" "0000997214" "00018052" "50" "1980" "0" "1980" "0" "c.1980T>A" "r.(?)" "p.(Asn660Lys)" "" "0000997215" "00018052" "30" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Ser717Leu)" "" "0000997216" "00018052" "50" "2487" "0" "2487" "0" "c.2487A>C" "r.(?)" "p.(Lys829Asn)" "" "0000997217" "00018052" "30" "2773" "0" "2773" "0" "c.2773C>A" "r.(?)" "p.(Pro925Thr)" "" "0000997218" "00018052" "30" "3101" "0" "3101" "0" "c.3101A>T" "r.(?)" "p.(His1034Leu)" "" "0000997219" "00018052" "30" "3133" "0" "3133" "0" "c.3133T>C" "r.(?)" "p.(Ser1045Pro)" "" "0000997220" "00018052" "30" "3139" "0" "3139" "0" "c.3139C>T" "r.(?)" "p.(Pro1047Ser)" "" "0000997221" "00018052" "30" "3374" "0" "3374" "0" "c.3374C>A" "r.(?)" "p.(Ser1125Tyr)" "" "0000997222" "00018052" "30" "4456" "0" "4456" "0" "c.4456G>A" "r.(?)" "p.(Gly1486Arg)" "" "0000997223" "00018052" "50" "5360" "0" "5360" "0" "c.5360A>G" "r.(?)" "p.(His1787Arg)" "" "0000997224" "00018052" "50" "5546" "0" "5546" "0" "c.5546A>G" "r.(?)" "p.(Asn1849Ser)" "" "0000997225" "00018052" "50" "5805" "0" "5805" "0" "c.5805T>G" "r.(?)" "p.(Phe1935Leu)" "" "0000997226" "00018052" "50" "6299" "0" "6299" "0" "c.6299T>C" "r.(?)" "p.(Leu2100Pro)" "" "0001014451" "00018052" "90" "157" "0" "157" "0" "c.157del" "r.(?)" "p.(Val53Trpfs*28)" "" "0001025527" "00018052" "90" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Ter)" "" "0001025528" "00018052" "50" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Gly723Glu)" "" "0001025529" "00018052" "70" "2953" "0" "2956" "0" "c.2953_2956del" "r.(?)" "p.(Asn985Tyrfs*27)" "" "0001036989" "00018052" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Val54Met)" "" "0001036990" "00018052" "70" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Leu172Arg)" "" "0001036991" "00018052" "30" "616" "-6" "616" "-6" "c.616-6T>C" "r.(=)" "p.(=)" "" "0001036992" "00018052" "50" "3589" "0" "3589" "0" "c.3589A>G" "r.(?)" "p.(Ser1197Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1401 "{{screeningid}}" "{{variantid}}" "0000032930" "0000060194" "0000032930" "0000060195" "0000032931" "0000060196" "0000032931" "0000060197" "0000032932" "0000060198" "0000032932" "0000060199" "0000032933" "0000060207" "0000032933" "0000060208" "0000032934" "0000060211" "0000032935" "0000060284" "0000032936" "0000060200" "0000032936" "0000060201" "0000032937" "0000060209" "0000032937" "0000060210" "0000032938" "0000060360" "0000032939" "0000060274" "0000032940" "0000060339" "0000032941" "0000060213" "0000032942" "0000060240" "0000032942" "0000060242" "0000032943" "0000060255" "0000032944" "0000060258" "0000032945" "0000060340" "0000032946" "0000060292" "0000032947" "0000060293" "0000032948" "0000060294" "0000032949" "0000060297" "0000032950" "0000060289" "0000032951" "0000060299" "0000032952" "0000060301" "0000032953" "0000060302" "0000032954" "0000060303" "0000032955" "0000060304" 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