### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRPH2) # 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}}" "PRPH2" "peripherin 2 (retinal degeneration, slow)" "6" "p21.2-cen" "unknown" "NG_009176.2" "UD_132085420696" "" "https://www.LOVD.nl/PRPH2" "" "1" "9942" "5961" "179605" "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/PRPH2_NM_000322.4_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-07-06 09:49:33" "00000" "2025-11-01 13:22:20" ## 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}}" "00016909" "PRPH2" "peripherin 2 (retinal degeneration, slow)" "001" "NM_000322.4" "" "NP_000313.2" "" "" "" "-286" "2741" "1041" "42690358" "42664333" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{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" "01339" "-" "fundus albipunctatus (retinitis punctata albescens (RPA))" "AD;AR" "136880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-17 16:27:42" "01424" "VMD" "dystrophy, macular, vitelliform (VMD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-06 09:48:47" "01494" "MDPT1" "dystrophy, macular, patterned, type 1 (MDPT-1)" "AD" "169150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02156" "-" "retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness" "" "300455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02739" "VMD3" "dystrophy, macular, vitelliform, type 3 (VMD-3)" "AD" "608161" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03257" "CACD2" "dystrophy, choroidal, areolar, central, type 2 (CACD2)" "AD" "613105" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-17 16:26:44" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "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" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "PRPH2" "01339" "PRPH2" "01424" "PRPH2" "01494" "PRPH2" "02739" "PRPH2" "03257" ## Individuals ## Do not remove or alter this header ## ## Count = 2107 "{{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}}" "00001783" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00033095" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033116" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033347" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00229588" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00229589" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00232688" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232689" "" "" "" "319" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232690" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232691" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232692" "" "" "" "321" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232693" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232694" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, 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2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232715" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233688" "" "" "" "848" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233689" "" "" "" "1201" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233690" "" "" "" "845" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00263129" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00271296" "" "" "" "2" "" "03536" "{PMID:Strafella 2019:31614793}, {DOI:Strafella 2019:10.3390/genes10100792}" "3-generation family, 4 affected (2F, 2M)" "M" "no" "Italy" ">54y" "0" "yes" "" "" "FamPatIII4" "00300604" "" "" "" "1" "" "01848" "{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}" "" "" "" "Italy" "" "0" "" "" "" "Fam14P18" "00301667" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00301668" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00307695" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00308387" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC06757" "00308388" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC03621" "00308536" "" "" "" "3" "" "00004" "{PMID:Holtan 2020:31429209}" "3 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308537" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308538" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308621" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00308672" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" "" "00309315" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309316" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309317" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309318" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309319" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309320" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309321" "" "" "" "1" "" "00004" "{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "TB50" "00309322" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309323" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309324" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309325" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309326" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309327" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309328" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309329" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00324128" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "168394" "00324247" "" "" "" "1" "" "00008" "{PMID:Renner 2004:15579992}" "" "" "" "Germany" "" "0" "" "" "" "" "00326760" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326761" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326762" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326763" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326764" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326765" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326766" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326767" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326768" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326769" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326770" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326771" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326772" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326773" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326774" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326775" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326776" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326777" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326778" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326779" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326780" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326781" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326782" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326783" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326784" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326785" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326786" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326787" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00327959" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240243" "00328145" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G005550" "00328162" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G006295" "00328178" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007674" "00328209" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007725" "00328320" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000253" "00328384" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690737F" "00328385" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680668" "00328386" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "681084" "00328433" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690944" "00331293" "" "" "" "1" "" "00000" "{PMID:Wawrocka 2018:29769798}" "" "" "" "Poland" "" "0" "" "" "" "Fam9" "00331985" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat123" "00331986" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat124" "00331987" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat125" "00331988" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat126" "00331989" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat127" "00331990" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat128" "00331991" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat129" "00331992" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat130" "00331993" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat131" "00331994" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat132" "00331995" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat133" "00331996" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat134" "00331997" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat135" "00331998" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat136" "00331999" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat137" "00332000" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat138" "00332001" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat139" "00332002" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat140" "00332003" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat141" "00332004" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat142" "00332005" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat143" "00332006" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat144" "00332007" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat145" "00332008" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat146" "00332009" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat147" "00332010" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat148" "00332011" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat149" "00332012" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat150" "00332013" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat151" "00332207" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB310" "00332208" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB167" "00332209" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB46" "00332269" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam15PatFBP_48" "00332379" "" "" "" "1" "" "00006" "{PMID:Essilfie 2018:29155698}" "" "F" "" "United States" "" "0" "" "" "" "patient" "00332498" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat23" "00333383" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD20–06" "00333384" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD20–07" "00333410" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD14–06" "00333437" "" "" "00333436" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM2-10228" "00333440" "" "" "" "11" "" "00000" "{PMID:Jones 2017:28761320}" "5-generation family, 11 affected (5F, 6M)" "F" "" "United States" "" "0" "" "" "" "FAM3-5250" "00333441" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM3-11704" "00333443" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM3-10397" "00333445" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "M" "" "United States" "" "0" "" "" "" "FAM3-6275" "00333446" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM3-9566" "00333447" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "M" "" "United States" "" "0" "" "" "" "FAM3-6121" "00333448" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "M" "" "United States" "" "0" "" "" "" "FAM3-6173" "00333449" "" "" "00333440" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM3-6248" "00333529" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "198" "00333593" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "302" "00333594" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "303" "00333618" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "355" "00333677" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "820" "00333678" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "821" "00333679" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "822" "00333680" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "823" "00333681" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "824" "00333706" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "880" "00333707" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "881" "00333708" "" "" "" "6" "" "00000" "{PMID:Stone 2017:28559085}" "family, 6 affected" "F" "" "(United States)" "" "0" "" "" "" "882" "00333709" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "883" "00333710" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "884" "00333711" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "885" "00333712" "" "" "" "4" "" "00000" "{PMID:Stone 2017:28559085}" "family, 4 affected" "M" "" "(United States)" "" "0" "" "" "" "886" "00333713" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "887" "00333714" "" "" "" "26" "" "00000" "{PMID:Stone 2017:28559085}" "family, 26 affected" "F" "" "(United States)" "" "0" "" "" "" "888" "00333715" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "889" "00333716" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "890" "00333717" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "891" "00333718" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "892" "00333719" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "893" "00333720" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "M" "" "(United States)" "" "0" "" "" "" "894" "00333721" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "F" "" "(United States)" "" "0" "" "" "" "895" "00333722" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "896" "00333723" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "897" "00333724" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "898" "00333725" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "899" "00333726" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "900" "00333727" "" "" "" "5" "" "00000" "{PMID:Stone 2017:28559085}" "family, 5 affected" "M" "" "(United States)" "" "0" "" "" "" "901" "00333728" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "902" "00335147" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "5118" "00335384" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP017" "00335581" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_039" "00335582" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_040" "00335583" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_041" "00335584" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_042" "00335664" "" "" "" "4" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335665" "" "" "" "20" "" "00008" "{PMID:Sullivan 2006:16799052}" "4 families" "" "" "United States" "" "0" "" "" "" "" "00335666" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335667" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335668" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335669" "" "" "" "3" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335670" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335671" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335672" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335673" "" "" "" "6" "" "00008" "{PMID:Sullivan 2006:16799052}" "2 families" "" "" "United States" "" "0" "" "" "" "" "00335674" "" "" "" "7" "" "00008" "{PMID:Sullivan 2006:16799052}" "2 families" "" "" "United States" "" "0" "" "" "" "" "00335675" "" "" "" "4" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335676" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335677" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335678" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335679" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335730" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2017:28045043}" "" "" "" "Spain" "" "0" "" "" "" "RP19S" "00335838" "" "" "" "1" "" "00000" "{PMID:Ramkumar 2017:28005406}" "" "" "" "United States" "" "0" "" "" "" "" "00335988" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00359234" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13009479" "00359416" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "" "F" "" "" "" "0" "" "" "white" "" "00359417" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "" "F" "" "" "" "0" "" "" "white" "" "00359418" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "" "F" "" "" "" "0" "" "" "white" "" "00359419" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "" "F" "" "" "" "0" "" "" "african" "" "00359420" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "" "F" "" "" "" "0" "" "" "white" "" "00359421" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "Brother with macular degeneration" "F" "" "" "" "0" "" "" "white" "" "00359422" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "Sister and 2 paternal cousins with macular degeneration" "F" "" "" "" "0" "" "" "white" "" "00359423" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "" "F" "" "" "" "0" "" "" "white" "" "00359424" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "Sister with macular degeneration" "F" "" "" "" "0" "" "" "white" "" "00359425" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "" "M" "" "" "" "0" "" "" "white" "Pat10" "00359426" "" "" "" "1" "" "00008" "{PMID:Zhuk 2006:16885924}" "" "F" "" "" "" "0" "" "" "white" "" "00359965" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17698758}" "index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Patient 15" "00359966" "" "" "" "1" "" "04036" "{PMID:Boulanger-Scemama 2015:26103963}" "index case" "" "no" "France" "" "0" "" "" "white" "CIC03621" "00359967" "" "" "" "1" "" "04036" "{PMID:Boulanger-Scemama 2015:26103963}" "Son index case" "M" "no" "France" "" "0" "" "" "white" "CIC03620" "00359968" "" "" "" "1" "" "04036" "{PMID:Zhao 2015:25472526}" "index case" "F" "" "Northern Ireland" "" "0" "" "" "white" "RD1200008" "00359969" "" "" "" "1" "" "04036" "{PMID:Felbor 1997:9338584}" "index case" "" "" "Germany" "" "0" "" "" "white" "799" "00359970" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "no" "Germany" "" "0" "" "" "white" "Patient 1" "00359971" "" "" "" "1" "" "04036" "{PMID:Zaneveld 2015:25474345}" "index case" "" "" "Canada" "" "0" "" "" "white" "13/Can" "00359972" "" "" "" "1" "" "04036" "{PMID:Sun 2015:26747767}" "index case" "M" "" "China" "" "0" "" "" "Asia" "HM838" "00359973" "" "" "" "1" "" "04036" "{PMID:Arai 2015:26161267}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "Patient 5" "00359974" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case, sister of fam_I_III:1" "F" "no" "Netherlands" "" "0" "" "" "white" "Fam_I_III:1" "00359975" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Sister index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Fam_I_III:2" "00359976" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 2" "00359977" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 3" "00359978" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 4" "00359979" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Sister index case (patient 4)" "F" "no" "Netherlands" "" "0" "" "" "white" "Patient 4.1" "00359980" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1993:8485575}" "index case, father of Fam7434_IV:1" "M" "no" "United States" "" "0" "" "" "" "Fam7434_III:1" "00359981" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1993:8485575}" "Daughter of index case" "F" "no" "United States" "" "0" "" "" "" "Fam7434_IV:1" "00359982" "" "" "" "1" "" "04036" "{PMID:Maertz 2015:25803555}" "index case" "M" "" "Germany" "" "0" "" "" "white" "Patient 3" "00359983" "" "" "" "1" "" "04036" "{PMID:Strom 2012:22863181}" "index case" "F" "" "United States" "" "0" "" "" "" "STGD-03" "00359984" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "123" "00359985" "" "" "" "1" "" "04036" "{PMID:Fishman 1997:9052636}" "index case" "M" "no" "Germany" "" "0" "" "" "white" "Fam_1_II:3" "00359986" "" "" "" "1" "" "04036" "{PMID:Fishman 1997:9052636}" "Father index case" "M" "no" "Germany" "" "0" "" "" "white" "Fam_1_I:1" "00359987" "" "" "" "1" "" "04036" "{PMID:Fishman 1997:9052636}" "Brother index case II:3" "M" "no" "Germany" "" "0" "" "" "white" "Fam_1_II:1" "00359988" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "153" "00359989" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "155" "00359990" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 5 (EUGENDA-407002273)" "00359991" "" "" "" "1" "" "04036" "{PMID:Daftarian 2019:31618092}" "index case, daughter of fam_1_III:6 and fam_1_III:7, sister of fam_1_IV:2" "F" "yes" "Iran" "" "0" "" "" "Arab" "Fam1_IV-1" "00359992" "" "" "" "1" "" "04036" "{PMID:Daftarian 2019:31618092}" "Father index case and fam_1_IV-2, husband and first cousin fam_1_III:7" "M" "yes" "Iran" "" "0" "" "" "Arab" "Fam_1_III-6" "00359993" "" "" "" "1" "" "04036" "{PMID:Daftarian 2019:31618092}" "Mother index case and fam_1_IV-2, wife and first cousin of fam_1_III:6" "F" "yes" "Iran" "" "0" "" "" "Arab" "Fam_1_III-7" "00359994" "" "" "" "1" "" "04036" "{PMID:Daftarian 2019:31618092}" "Sister index case, daughter of fam_1_III:6 and fam_1_III:7" "F" "yes" "Iran" "" "0" "" "" "Arab" "Fam_1_IV:2" "00359995" "" "" "" "1" "" "04036" "{PMID:Barbazetto 2007:18161617}" "index case" "F" "" "United States" "" "0" "" "" "" "Patient 4" "00359996" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "Sister family_1_II:2, aunt of family_1_III:3" "F" "no" "United States" "" "0" "" "" "" "Family_1_II:1" "00359997" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "Brother of family_1_II:1, fathter of family_1_III:3" "M" "no" "United States" "" "0" "" "" "" "Family_1_II:2" "00359998" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "Daughter of family_1_II:2, niece of family_1_II:1" "F" "no" "United States" "" "0" "" "" "" "Family_1_III:3" "00359999" "" "" "" "1" "" "04036" "{PMID:Palma 2019:30726412}" "index case" "M" "" "Brazil" "" "0" "" "" "Afro-American" "Patient 2" "00360000" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 6 (ST0379)" "00360001" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "52" "00360002" "" "" "" "1" "" "04036" "{PMID:Moshfeghi 2006:17249552}" "index case, mother case 3" "F" "no" "United States" "" "0" "" "" "white" "Case2" "00360003" "" "" "" "1" "" "04036" "{PMID:Moshfeghi 2006:17249552}" "Daughter index case" "F" "no" "United States" "" "0" "" "" "white" "Case3" "00360004" "" "" "" "1" "" "04036" "{PMID:Yang 2003:12566026}" "Brother fam_1_II:7 and fam_1_II:9, uncle fam_1_III:1 and fam_1_III:8" "M" "no" "United States" "" "0" "" "" "" "Fam_1_II:5" "00360005" "" "" "" "1" "" "04036" "{PMID:Yang 2003:12566026}" "Mother fam_1_III:8, sister fam_1_II:5 and fam_1_II:9, aunt fam_1_III:1" "F" "no" "United States" "" "0" "" "" "" "Fam_1_II:7" "00360006" "" "" "" "1" "" "04036" "{PMID:Yang 2003:12566026}" "Brother fam_1_II:5 and fam_1_II:7, uncle fam_1_III:1 and fam_1_III:8" "M" "no" "United States" "" "0" "" "" "" "Fam_1_II:9" "00360007" "" "" "" "1" "" "04036" "{PMID:Yang 2003:12566026}" "Cousin fam_1_III:8, father fam_1_IV:2, uncle fam_1_IV:3 and fam_1_IV:3" "M" "no" "United States" "" "0" "" "" "" "Fam_1_III:1" "00360008" "" "" "" "1" "" "04036" "{PMID:Yang 2003:12566026}" "Mother fam_1_IV:3 and fam_1_IV:4, niece of fam_1_III:1, aunt of fam_1_IV:2" "F" "no" "United States" "" "0" "" "" "" "Fam_1_III:8" "00360009" "" "" "" "1" "" "04036" "{PMID:Yang 2003:12566026}" "Son fam_1_III:1, cousin fam_1_III:8/fam_1_IV:3/fam_1_IV:4" "M" "no" "United States" "" "0" "" "" "" "Fam_1_IV:2" "00360010" "" "" "" "1" "" "04036" "{PMID:Yang 2003:12566026}" "Son fam_1_III:8, brother fam_1_IV:4, cousin fam_1_III:1 and fam_1_IV:2" "M" "no" "United States" "" "0" "" "" "" "Fam_1_IV:3" "00360011" "" "" "" "1" "" "04036" "{PMID:Yang 2003:12566026}" "Daughter fam_1_III:8, sister fam_1_IV:3, niece fam_1_III:1 and fam_1_IV:2" "F" "no" "United States" "" "0" "" "" "" "Fam_1_IV:4" "00360012" "" "" "" "1" "" "04036" "{PMID:Schorderet 2013:23484092}" "index case" "" "" "Switzerland" "" "0" "" "" "white" "Patient 17" "00360013" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 7" "00360014" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "index case" "M" "" "Spain" "" "0" "" "" "white" "Sporadic_2" "00360015" "" "" "" "1" "" "04036" "{PMID:Abouelhoda 2016:27884173}" "index case" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "Unknown" "00360016" "" "" "" "1" "" "04036" "{PMID:Sallevelt 2017:28492530}" "index case" "F" "yes" "Morocco" "" "0" "" "" "Arab" "C1_♀" "00360017" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 8 (EUGENDA-407003671)" "00360018" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 9 (OPH1852)" "00360019" "" "" "" "1" "" "04036" "{PMID:Meins 1993:8111389}" "index case" "M" "no" "Germany" "" "0" "" "" "white" "Unknown" "00360020" "" "" "" "1" "" "04036" "{PMID:Lam 1995:7825692}" "index case" "M" "no" "United States" "" "0" "" "" "white" "Family_1_III:3" "00360021" "" "" "" "1" "" "04036" "{PMID:Apfelstedt-Sylla 1995:7880786}" "index case, father of family_2_ IV:3" "M" "no" "Germany" "" "0" "" "" "white" "Family_2_ III:4" "00360022" "" "" "" "1" "" "04036" "{PMID:Apfelstedt-Sylla 1995:7880786}" "Son index case" "M" "no" "Germany" "" "0" "" "" "white" "Family_2_ IV:3" "00360023" "" "" "" "1" "" "04036" "{PMID:Schatz 2003:14510799}" "Father Family_1 II:2" "M" "no" "Sweden" "" "0" "" "" "white" "Family_1 I:2" "00360024" "" "" "" "1" "" "04036" "{PMID:Schatz 2003:14510799}" "Daughter Family_1 I:2" "F" "no" "Sweden" "" "0" "" "" "white" "Family_1 II:2" "00360025" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "index case" "M" "" "Spain" "" "0" "" "" "white" "Sporadic_1" "00360026" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "index case" "F" "no" "Spain" "" "0" "" "" "white" "Family_1 _ II:6" "00360027" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "Brother index case and family_1 _ II:2" "M" "no" "Spain" "" "0" "" "" "white" "Family_1 _ II:3" "00360028" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "Brother index case and family_1 _ II:3" "M" "no" "Spain" "" "0" "" "" "white" "Family_1 _ II:2" "00360029" "" "" "" "1" "" "04036" "{PMID:Abu-Safieh 2013:23105016}" "index case, atypical inheritance" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "sRP-035" "00360030" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Mother index case" "F" "no" "France" "" "0" "" "" "white" "PHRC143_II:2" "00360031" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "F" "no" "France" "" "0" "" "" "white" "PHRC143_III:2" "00360032" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Daughter index case" "F" "no" "France" "" "0" "" "" "white" "PHRC143_IV:1" "00360033" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "M" "no" "France" "" "0" "" "" "white" "PHRC208_II:2" "00360034" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "M" "no" "France" "" "0" "" "" "white" "FAM586_II:2" "00360035" "" "" "" "1" "" "04036" "{PMID:Consugar 2015:25412400}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "OGI-423-901" "00360036" "" "" "" "1" "" "04036" "{PMID:Consugar 2015:25412400}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "OGI-315-751" "00360037" "" "" "" "1" "" "04036" "{PMID:Khan 2016:26061163}" "index case" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Family 2-1" "00360038" "" "" "" "1" "" "04036" "{PMID:Khan 2016:26061163}" "Sister index case" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Family 2-2" "00360039" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case" "M" "no" "Spain" "" "0" "" "" "white" "Family_1_II-2" "00360040" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "Sister index case" "F" "no" "Spain" "" "0" "" "" "white" "Family_1_II-3" "00360041" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "Brother index case" "M" "no" "Spain" "" "0" "" "" "white" "Family_1_II-4" "00360042" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case. Patient also carries a complex variant in the ABCA4 gene (p.Leu2027Phe/p.Gly1977Ser)" "M" "no" "Spain" "" "0" "" "" "white" "Family_2_III-6" "00360043" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "13" "00360044" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "130,1" "00360045" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member of index case 130,1" "F" "no" "United States" "" "0" "" "" "(white)" "130,2" "00360046" "" "" "" "1" "" "04036" "{PMID:Xiang:22567862)" "index case, sister family_1_III:1/family_1_III:2/family_1_III:5" "F" "no" "China" "" "0" "" "" "Asia" "Family_1_ III:3" "00360047" "" "" "" "1" "" "04036" "{PMID:Xiang:22567862)" "Sister of index case, family_1_III:2, and family_1_III:5" "F" "no" "China" "" "0" "" "" "Asia" "Family_1_III:1" "00360048" "" "" "" "1" "" "04036" "{PMID:Xiang:22567862)" "Sister of index case, family_1_III:1, and family_1_III:5" "F" "no" "China" "" "0" "" "" "Asia" "Family_1_III:2" "00360049" "" "" "" "1" "" "04036" "{PMID:Xiang:22567862)" "Brother of index case, family_1_III:1, and family_1_III:2" "M" "no" "China" "" "0" "" "" "Asia" "Family_1_III:5" "00360050" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "24" "00360051" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "53" "00360052" "" "" "" "1" "" "04036" "{PMID:Duncker 2015:26024099}" "index case" "F" "no" "United States" "" "0" "" "" "white" "Patient 11" "00360053" "" "" "" "1" "" "04036" "{PMID:Duncker 2015:26024099}" "index case" "F" "no" "United States" "" "0" "" "" "white" "Patient 20" "00360054" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Mother index case and family_C_III:2, sister family_C_II:2" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_C_II:2" "00360055" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Aunt index case and family_C_III:2, sister family_C_II:2" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_C_II:3" "00360056" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Sister index case, daughter of family_C_II:2, niece family_C_II:3" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_C_III:2" "00360057" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case, son family_c_II:2, cousin family_C_II:3, brother family_C_III:2" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_C_III:3" "00360058" "" "" "" "1" "" "04036" "{PMID:Jacobson 1994:NO PUMBED ID}" "index case" "" "no" "United States" "" "0" "" "" "" "Unknown" "00360059" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "Mother family_2_IV:1, aunt family_2_IV:4 and family_2_IV:15" "F" "no" "United States" "" "0" "" "" "" "Family_2_III:1 (patient 4)" "00360060" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "Son family_2_III:1, cousin family_2_IV:4 and family_2_IV:15" "M" "no" "United States" "" "0" "" "" "" "Family_2_IV:1 (patient 5)" "00360061" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "Cousin family_2_III:1/family_2_IV:1/family_2_IV:15" "M" "no" "United States" "" "0" "" "" "" "Family_2_IV:4 (patient 6)" "00360062" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "Niece family_2_III:1/family_2_IV:1/family_2_IV:4" "F" "no" "United States" "" "0" "" "" "" "Family_2_IV:15 (patient 7)" "00360063" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case, mother family_5361_III:1, sister family_5361_II:3" "F" "no" "United States" "" "0" "" "" "" "Family_5361_II:2" "00360064" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Brother index case, uncle family_5361_III:1" "M" "no" "United States" "" "0" "" "" "" "Family_5361_II:3" "00360065" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Son index case, cousin family_5361_II:3" "M" "no" "United States" "" "0" "" "" "" "Family_5361_III:1" "00360066" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:PMID:8994365}" "index case of this family not indicated, nor the number of affected memebers carryining this variant" "" "" "United States" "" "0" "" "" "" "Family_Gly68Arg" "00360067" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "F" "no" "France" "" "0" "" "" "white" "PHRC126_II:3" "00360068" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "no" "France" "" "0" "" "" "white" "Patient 10 (OPH1802)" "00360069" "" "" "" "1" "" "04036" "{PMID:Lim 2009:19506198}" "index case" "M" "no" "China" "" "0" "" "" "Asia" "Unknown" "00360070" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "21" "00360071" "" "" "" "1" "" "04036" "{PMID:Wolock 2019:30926958}" "index case" "" "" "United States" "" "0" "" "" "" "3526" "00360072" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 11" "00360073" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "25" "00360074" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "54" "00360075" "" "" "" "1" "" "04036" "{PMID:Ba-Abbad 2014:24608669}" "index case" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Case 4" "00360076" "" "" "" "1" "" "04036" "{PMID:Ba-Abbed 2014:PMID 24608669}" "Mother index case" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Mother case 4" "00360077" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Brother of family_PD_II-8, father family_PD_III-15/III-16," "M" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_II-6" "00360078" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated, sister of family_PD_II-6, mother of family_PD_III:20," "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_II-8" "00360079" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated, brother family_PD_III-2/III-5/III-6/III-8, cousin of family_PD_II-6/II-8//III-11/III-12/III-13/III-14/III-15/III-16/III-20," "M" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_III-1" "00360080" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Mother family_PD_IV1/IV:2, sister family_PD_/III-1/III-5/III-6/III-8, niece family_PD_II-6/II-8/III-11/III-12/III-13/III-14/III-15/III-16/III-20," "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_III-2" "00360081" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Sister of family_PD_III-1/III-2/III-6/III-8, niece family_PD_II-6/II-8/III-11/III-12/III-13/III-14/III-15/III-16/III-20." "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_ III-5" "00360082" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Father family_PD_IV-3, brother family_PD_III-1/III-2/III-5/III-8, cousin family_PD_II-6/II-8/III-11/III-12/III-13/III-14/III-15/III-16/III-20," "M" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_ III-6" "00360083" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Sister family_PD_III-1/III-2/III-5/III-6, niece family_PD_II-6/II-8/III-11/III-12/III-13/III-14/III-15/III-16/III-20," "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_ III-8" "00360084" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Brother family_PD_III-12," "M" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_ III-11" "00360085" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Sister family_PD_III-11," "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_ III-12" "00360086" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Mother family_PD_IV:4, sister family_PD_III-14" "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_ III-13" "00360087" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Sister family_PD_III-13, aunt family_PD_IV:4," "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_III-14" "00360088" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated" "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_III-15" "00360089" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated" "M" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_ III-16" "00360090" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated" "M" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_III-20" "00360091" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Son family_PD_III-2, brother family_PD_IV-2," "M" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_IV-1" "00360092" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Daughter family_PD_III-2, sisterr family_PD_IV-1," "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_IV-2" "00360093" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Daughter family_PD_III-6" "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_IV-3" "00360094" "" "" "" "1" "" "04036" "{PMID:Pajic 2006:17031298}" "index case not indicated. Daughter family_PD_III-13" "F" "no" "Switzerland" "" "0" "" "" "white" "Family_PD_IV-4" "00360095" "" "" "" "1" "" "04036" "{PMID:Duncker 2015:26024099}" "index case" "F" "no" "United States" "" "0" "" "" "white" "Patient 12" "00360096" "" "" "" "1" "" "04036" "{PMID:Duncker 2015:26024099}" "Sister index case" "F" "" "United States" "" "0" "" "" "white" "Patient 13" "00360097" "" "" "" "1" "" "04036" "{PMID:Alpati 2014:25082885}, {PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "Pat4;Pat14" "00360098" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "55" "00360099" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "200" "00360100" "" "" "" "1" "" "04036" "{PMID:Leroy 2007:16916875}" "Mother index case and familyA_II:2" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "FamilyA_I:2" "00360101" "" "" "" "1" "" "04036" "{PMID:Leroy 2007:16916875}" "index case, sister familyA_II:2" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "FamilyA_II:1" "00360102" "" "" "" "1" "" "04036" "{PMID:Leroy 2007:16916875}" "Brother index case, son familyA_I:2" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "FamilyA_II:2" "00360103" "" "" "" "1" "" "04036" "{PMID:Meunier 2011:21269699}" "index case" "F" "" "France" "" "0" "" "" "white" "Juvenile vitelliform macular dystrophy_patient 25" "00360104" "" "" "" "1" "" "04036" "{PMID:Meunier 2011:21269699}" "index case" "F" "" "France" "" "0" "" "" "white" "Adult vitelliform macular dystrophy_patient 12" "00360105" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Czech Republic" "" "0" "" "" "Czech Republic" "Patient 13 (739)" "00360106" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 14" "00360107" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "131" "00360108" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case" "F" "no" "United States" "" "0" "" "" "" "Unknown" "00360109" "" "" "" "1" "" "04036" "{PMID:Alpati 2014:25082885}, {PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "Pat4;Pat14" "00360110" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "55" "00360111" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "27" "00360112" "" "" "" "1" "" "04036" "{PMID:Arai 2015:26161267}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "Patient 4" "00360113" "" "" "" "1" "" "04036" "{PMID:Wells;1993:8485576}" "Aunt index case and family_1_V:2, mother of family_1_V:6 and family_1_V:7" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_1_IV:14" "00360114" "" "" "" "1" "" "04036" "{PMID:Wroblewski 1994:7848979}" "Niece index case/family_1_V:6/family_1_V:7/family_1_IV:14" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_1_V:2" "00360115" "" "" "" "1" "" "04036" "{PMID:Wroblewski 1994:7848979}" "Niece index case/family_1_V:2/family_1_IV:14, sister family_1_V:7" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_1_V:6" "00360116" "" "" "" "1" "" "04036" "{PMID:Wroblewski 1994:7848979}" "Cousin index case/family_1_V:2/family_1_IV:14, brother family_1_V:6" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_1_V:7" "00360117" "" "" "" "1" "" "04036" "{PMID:Wroblewski 1994:7848979}" "index case, niece family_1_IV:14/family_1_V:2/family_1_V:6/family_1_V:7" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_1_V:9" "00360118" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Mother of III:1/III:3, aunt of III:5/III:6" "F" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_II:1" "00360119" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Daughter of II:1, sister of III:3, niece of III:5/III:6" "F" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_III:1" "00360120" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Son of II:1, brother of III:1, cousin of III:5/III:6" "M" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_III:3" "00360121" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Mother of IV:2; IV:3; IV:4; IV:5, sister of III:6, niece III:1/III:3" "F" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_III:5" "00360122" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Sister of III:5, aunt of IV:2; IV:3; IV:4; IV:5. niece of III:1.III:3" "F" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_III:6" "00360123" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Daughter of III:5, sister of IV:3; IV:4; IV:5, niece of III:6" "F" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_IV:2" "00360124" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Daughter of III:5, sister of IV:2; IV:4; IV:5, niece of III:6" "F" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_IV:3" "00360125" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Son of III:5, brother of IV:2; IV:3; IV:5, cousin of III:6" "M" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_IV:4" "00360126" "" "" "" "1" "" "04036" "{PMID:Farrar 1991:1749427}" "Son of III:5, brother of IV:2; IV:3; IV:4, cousin of III:6" "M" "no" "Ireland" "" "0" "" "" "white" "Family_adRP_IV:5" "00360127" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "Identical twins" "F" "no" "Germany" "" "0" "" "" "white" "5310-F521 identicaltwin" "00360128" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "Identical twins" "F" "no" "Germany" "" "0" "" "" "white" "5310-F521 identicaltwin" "00360129" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 15" "00360130" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "M" "no" "Germany" "" "0" "" "" "white" "97" "00360131" "" "" "" "1" "" "04036" "{PMID:Schatz 2003:14510799}" "Father of Family_2 II:1" "M" "no" "Sweden" "" "0" "" "" "white" "Family_2 I:2" "00360132" "" "" "" "1" "" "04036" "{PMID:Schatz 2003:14510799}" "Daughter of Family_2 I:2" "F" "no" "Sweden" "" "0" "" "" "white" "Family_2 II:1" "00360133" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 16" "00360134" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "M" "no" "France" "" "0" "" "" "white" "PHRC209_II:2" "00360135" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "Daughter of 439-F108-2" "F" "no" "Germany" "" "0" "" "" "white" "439-F108-1" "00360136" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "Mother of 439-F108-1" "F" "no" "Germany" "" "0" "" "" "white" "439-F108-2" "00360137" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Aunt of index case, niece family_5951_III:4, mother family_5951_IV:1" "F" "no" "United States" "" "0" "" "" "" "Family_5951_III:2" "00360138" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Father index case, cousin family_5951_III:2, uncle family_5951_IV:1, grandfather family_5951_V:2" "M" "no" "United States" "" "0" "" "" "" "Family_5951_III:4" "00360139" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Cousin index case and family_5951_III:4, son of family_5951_III:2" "M" "no" "United States" "" "0" "" "" "" "Family_5951_IV:1" "00360140" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case, son of Family_5951_III:4, cousin family_5951_III:2/family_5951_IV:1, father family_5951_V:2" "M" "no" "United States" "" "0" "" "" "" "Family_5951_IV:5" "00360141" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Daughter index case, grand daughter family_5951_III:4" "F" "no" "United States" "" "0" "" "" "" "Family_5951_V:2" "00360142" "" "" "" "1" "" "04036" "{PMID:Yoon 2015:26155838}" "index case" "M" "" "Korea" "" "0" "" "" "Asia" "432" "00360143" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "no" "United States" "" "0" "" "" "(white)" "137,1" "00360144" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case 137,1 and from 137,3" "F" "no" "United States" "" "0" "" "" "(white)" "137,2" "00360145" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case 137,1 and from 137,2" "F" "no" "United States" "" "0" "" "" "(white)" "137,3" "00360146" "" "" "" "1" "" "04036" "{PMID:Fakin 2012:22842402}" "Father index case, patient 4_II:3 and patient 5_II:2" "M" "no" "Slovenia" "" "0" "" "" "Slovenia" "Patient 1_I:1" "00360147" "" "" "" "1" "" "04036" "{PMID:Fakin 2012:22842402}" "index case, son patient 1_I:1, brother patient 4_II:3/patient 5_II:2" "M" "no" "Slovenia" "" "0" "" "" "Slovenia" "Patient 3_II:1" "00360148" "" "" "" "1" "" "04036" "{PMID:Fakin 2012:22842402}" "Brother index case and patient 5_II:2, son of patient 1_I:1" "M" "no" "Slovenia" "" "0" "" "" "Slovenia" "Patient 4_II:3" "00360149" "" "" "" "1" "" "04036" "{PMID:Fakin 2012:22842402}" "Sister index case and patient 4_II:3, daughter of patient 1_I:1" "F" "no" "Slovenia" "" "0" "" "" "Slovenia" "Patient 5_II:2" "00360150" "" "" "" "1" "" "04036" "{PMID:Sullivan 2013:23950152}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown" "00360151" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "18" "00360152" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "no" "United States" "" "0" "" "" "(white)" "56,1" "00360153" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member of index case 56,1" "M" "no" "United States" "" "0" "" "" "(white)" "56,2" "00360154" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "142" "00360155" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "19" "00360156" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "57" "00360157" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "126" "00360158" "" "" "" "1" "" "04036" "{PMID:Ba-Abbed 2014:24608669}" "index case" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Case 1" "00360159" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "116" "00360160" "" "" "" "1" "" "04036" "{PMID:Jin 2008:18310263}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "M:0161" "00360161" "" "" "" "1" "" "04036" "{PMID:Miyata 2018:30217183}" "index case" "F" "" "Japan" "" "0" "" "" "Asia" "Unknown" "00360162" "" "" "" "1" "" "04036" "{PMID:Oishi 2014:25324289}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "K6074" "00360163" "" "" "" "1" "" "04036" "{PMID:Oishi 2014:25324289}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "K6322" "00360164" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 17 (ST1703)" "00360165" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 18 (OPH1050)" "00360166" "" "" "" "1" "" "04036" "{PMID:Payne 1998:9443872}" "index case not indicated, nor the number of affected family members that carry the variant" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family 19" "00360167" "" "" "" "1" "" "04036" "{PMID:Kim 1995:7710395}" "Mother of III:16, aunt of III:9, III:10, III:14, and III:20" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_PD_II:7" "00360168" "" "" "" "1" "" "04036" "{PMID:Kim 1995:7710395}" "Brother of III:10, cousin II:7, III:14, III:16, and III:20" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_PD_ III:9" "00360169" "" "" "" "1" "" "04036" "{PMID:Kim 1995:7710395}" "Brother of III:9, cousin II:7, III:14, III:16, and III:20" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_PD_III:10" "00360170" "" "" "" "1" "" "04036" "{PMID:Kim 1995:7710395}" "Niece II:7, III:9, III:10, III:16, and III:20" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_PD_III:14" "00360171" "" "" "" "1" "" "04036" "{PMID:Kim 1995:7710395}" "Daughter of II:7, niece of III:9, III:10, III:14, and III:20" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_PD_ III:16" "00360172" "" "" "" "1" "" "04036" "{PMID:Kim 1995:7710395}" "Cousin II:7, III:9, III:10, III:14, and III:16" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_PD_III:20" "00360173" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_1" "00360174" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_2" "00360175" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_3" "00360176" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_4" "00360177" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_5" "00360178" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_6" "00360179" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_7" "00360180" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_8" "00360181" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_9" "00360182" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_ADMD_10" "00360183" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "" "" "Spain" "" "0" "" "" "white" "DM-24" "00360184" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Father of index case, family_A_II:3, and family_A_II:4" "M" "no" "United States" "" "0" "" "" "white" "Family_A_ I:1" "00360185" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "index case, son family_A_I:1, brother family_A_II:3 and family_A_II:4" "M" "no" "United States" "" "0" "" "" "white" "Family_A_ II:1" "00360186" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Daughter of family_A_I:1, sister of index case and family_A_II:4" "F" "no" "United States" "" "0" "" "" "white" "Family_A_II:3" "00360187" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Daughter of family_A_I:1, sister of index case and family_A_II:3" "F" "no" "United States" "" "0" "" "" "white" "Family_A_II:4" "00360188" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Uncle of index case/family_B_IV:5/IV6/IV:9/IV:14 cousin of family_B_ III:5 and III:8," "M" "no" "United States" "" "0" "" "" "white" "Family_B_III:1" "00360189" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Aunt index case/familyB_IV:14, mother of family_B_IV:5/IV:6/IV:9, niece family_B_III:1, sister of family_B_III:8" "F" "no" "United States" "" "0" "" "" "white" "Family_B_ III:5" "00360190" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Mother index case/familyB_IV:14, aunt of family_B_IV:5/IV:6/IV:9, niece family_B_III:1, sister of family_B_III:5" "F" "no" "United States" "" "0" "" "" "white" "Family_B_ III:8" "00360191" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Niece index case/familyB_IV:14, sister of family_B_IV:6/IV:9, niece family_B_III:1/III:8, daughter of family_B_III:5" "F" "no" "United States" "" "0" "" "" "white" "Family_B_ IV:5" "00360192" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Niece index case/familyB_IV:14, sister of family_B_IV:5/IV:9, niece family_B_III:1/III:8, daughter of family_B_III:5" "F" "no" "United States" "" "0" "" "" "white" "Family_B_ IV:6" "00360193" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Cousin index case/familyB_IV:14, brother of family_B_IV:5/IV:6, cousin family_B_III:1/III:8, son of family_B_III:5" "M" "no" "United States" "" "0" "" "" "white" "Family_B_ IV:9" "00360194" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "index case, daughter of family_B_III:8, sister of family_B_IV:14, niece of family_B_III:1/III:5/IV:5/IV:6/IV:9" "F" "no" "United States" "" "0" "" "" "white" "Family_B_IV:13" "00360195" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Brother index case, son of family_B_III:8, cousin of family_B_III:1/III:5/IV:5/IV:6/IV:9" "M" "no" "United States" "" "0" "" "" "white" "Family_B_ IV:14" "00360196" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Mother index case, sister of family_CII:4/II:8, aunt of family_c_III:5/III:10" "F" "no" "United States" "" "0" "" "" "white" "Family_C_II:2" "00360197" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Aunt of index case and family_C_III:10, sister of family_CII:2/II:8, mother of family_c_III:5" "F" "no" "United States" "" "0" "" "" "white" "Family_C_II:4" "00360198" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Aunt of index case and family_C_III:5, sister of family_CII:2/II:8, mother of family_c_III:10" "F" "no" "United States" "" "0" "" "" "white" "Family_C_II:8" "00360199" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "index case, Son of family_C_II:2, cousin of family_C_II:4/II:8/III:1/III:5" "M" "no" "United States" "" "0" "" "" "white" "Family_C_ III:1" "00360200" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Aunt of index case and family_C_III:5, sister of family_CII:2/ III:5, mother of family_c_III:10" "F" "no" "United States" "" "0" "" "" "white" "Family_C_ III:5" "00360201" "" "" "" "1" "" "04036" "{PMID:Yang 2004:15370544}" "Aunt of index case and family_C_III:5, sister of family_CII:2/ III:10, mother of family_c_III:10" "F" "no" "United States" "" "0" "" "" "white" "Family_C_ III:10" "00360202" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Brother of family_B_103/104/106/108, father of family_B_1002, Uncle of family_B_1004/1008/1009" "M" "no" "United States" "" "0" "" "" "" "Family_B_100" "00360203" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Sister of family_B_100/104/106/108, mother of family_B_1004, aunt of family_B_1002/1008/1009" "F" "no" "United States" "" "0" "" "" "" "Family_B_103" "00360204" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Sister of family_B_100/103/106/108, aunt of family_B_1002/1004/1008/1009" "F" "no" "United States" "" "0" "" "" "" "Family_B_104" "00360205" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Sister of family_B_100/103/104/108, mother of family_B_1008/1009, aunt of family_B_1002/1004" "F" "no" "United States" "" "0" "" "" "" "Family_B_106" "00360206" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Sister of family_B_100/103/104/106, aunt of family_B_1002/1004/1008/1009" "F" "no" "United States" "" "0" "" "" "" "Family_B_108" "00360207" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Daughter family_B_100, niece family_B_103/104/106/108/1004/1008/1009" "F" "no" "United States" "" "0" "" "" "" "Family_B_1002" "00360208" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Daughter family_B_103, niece family_B_100/104/106/108/1002/1008/1009" "F" "no" "United States" "" "0" "" "" "" "Family_B_1004" "00360209" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Daughter family_B_106, niece family_B_100/103/104/108/1002/1004, sister family_B_1009" "F" "no" "United States" "" "0" "" "" "" "Family_B_1008" "00360210" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Daughter family_B_106, niece family_B_100/103/104/108/1002/1004, sister family_B_1008" "F" "no" "United States" "" "0" "" "" "" "Family_B_1009" "00360211" "" "" "" "1" "" "04036" "{PMID:Vaclavik 2012:22466463}" "Cousin index case, uncle patient IV.1" "M" "no" "Switzerland" "" "0" "" "" "white" "Patient III.3" "00360212" "" "" "" "1" "" "04036" "{PMID:Vaclavik 2012:22466463}" "index case" "F" "no" "Switzerland" "" "0" "" "" "white" "Patient III.5" "00360213" "" "" "" "1" "" "04036" "{PMID:Vaclavik 2012:22466463}" "Daughter index case, niece patient III:3" "F" "no" "Switzerland" "" "0" "" "" "white" "Patient IV.1" "00360214" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case, daughter of III:1, sister of IV:3, niece III:4" "F" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 5 (case 6) IV:1" "00360215" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "Mother index case and IV:3, sister III:4" "F" "no" "United States" "" "0" "" "" "(white)" "III:1" "00360216" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "Uncle index case and IV:3, brother III:1" "M" "no" "United States" "" "0" "" "" "(white)" "III:4" "00360217" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "Brother index case, son of III:1, cousin III:4" "M" "no" "United States" "" "0" "" "" "(white)" "IV:3" "00360218" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 6" "00360219" "" "" "" "1" "" "04036" "{PMID:Wang 2014:25097241}" "index case" "M" "" "United States" "" "0" "" "" "" "39" "00360220" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "no" "United States" "" "0" "" "" "(white)" "10,1" "00360221" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Familymember index case" "M" "no" "United States" "" "0" "" "" "(white)" "10,2" "00360222" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "no" "United States" "" "0" "" "" "(white)" "11,1" "00360223" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Familymember index case" "F" "no" "United States" "" "0" "" "" "(white)" "11,2" "00360224" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Familymember index case" "M" "no" "United States" "" "0" "" "" "(white)" "11,3" "00360225" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Familymember index case" "M" "no" "United States" "" "0" "" "" "(white)" "11,4" "00360226" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "16" "00360227" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "no" "United States" "" "0" "" "" "(white)" "23" "00360228" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "58" "00360229" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "59" "00360230" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "60" "00360231" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "61" "00360232" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "62" "00360233" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "no" "United States" "" "0" "" "" "(white)" "124" "00360234" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "Germany" "" "0" "" "" "white" "Patient 19 (5136)" "00360235" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "no" "Netherlands" "" "0" "" "" "white" "Patient 20 (R963)" "00360236" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 21" "00360237" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Mother index case 1284618" "F" "no" "Netherlands" "" "0" "" "" "white" "Patient 22" "00360238" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Father index case 1284618" "M" "no" "Netherlands" "" "0" "" "" "white" "Patient 22.1" "00360239" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 22.2" "00360240" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 23" "00360241" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 24" "00360242" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 25" "00360243" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 26" "00360244" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 27" "00360245" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 28" "00360246" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 29" "00360247" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 30" "00360248" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 31" "00360249" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Sister index case 6964979" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 31.1" "00360250" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 32" "00360251" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 33" "00360252" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 34" "00360253" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 35" "00360254" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 36" "00360255" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 37" "00360256" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Father index case 1162674" "M" "no" "Netherlands" "" "0" "" "" "white" "Patient 37.1" "00360257" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 38" "00360258" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 39" "00360259" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 40" "00360260" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 41" "00360261" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 42" "00360262" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 43" "00360263" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 44" "00360264" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 45" "00360265" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 46" "00360266" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 47" "00360267" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 48" "00360268" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 49" "00360269" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 50" "00360270" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 51" "00360271" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 52" "00360272" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 53" "00360273" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 54" "00360274" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "Brother Family_Gu III-7/III-8/III-17" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_Gu III-5" "00360275" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "index case" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_Gu III-7" "00360276" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "Sister Family_Gu III-5/III-7/III-17" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_Gu III-8" "00360277" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "Sister Family_Gu III-5/III-7/III-8" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_Gu III-17" "00360278" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "index case" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_Ja II-1" "00360279" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_Si II-3" "00360280" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_Sta II-2" "00360281" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "Sister index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_Sta II-5" "00360282" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_TE IV-10" "00360283" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "index case" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_Ho II-2" "00360284" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_Li III:2" "00360285" "" "" "" "1" "" "04036" "{PMID:Hoyng 1996:8644804}" "Brother index case" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_Li III:3" "00360286" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_CACD_1" "00360287" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_CACD_2" "00360288" "" "" "" "1" "" "04036" "{PMID:Trujillo 2001:11139263}" "All patients belong to same family, however no pedigree available" "" "" "Spain" "" "0" "" "" "white" "Family_CACD_3" "00360289" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_III:9" "00360290" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_III:10" "00360291" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_III:13" "00360292" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:1" "00360293" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:2" "00360294" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:3" "00360295" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:4" "00360296" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:5" "00360297" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:6" "00360298" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:8" "00360299" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:10" "00360300" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:11" "00360301" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_IV:12" "00360302" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_B_III:4" "00360303" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_B_III:6" "00360304" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_B_III:8" "00360305" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_B_III:11" "00360306" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_C_II:1" "00360307" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_C_II:2" "00360308" "" "" "" "1" "" "04036" "{PMID:Klevering 2002:11801511}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_C_II:5" "00360309" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "" "" "Spain" "" "0" "" "" "white" "DM-25" "00360310" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "F" "" "Spain" "" "0" "" "" "white" "DM-115_ I:2" "00360311" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Daughter index case DM-115_I:2" "F" "" "Spain" "" "0" "" "" "white" "DM-115_ II:1" "00360312" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "F" "" "Germany" "" "0" "" "" "white" "954" "00360313" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_I:1" "00360314" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_II:1" "00360315" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_II:3" "00360316" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_II:4" "00360317" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_II:5" "00360318" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_A_II:8" "00360319" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_II:9" "00360320" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_B_I:2" "00360321" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_B_II:1" "00360322" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_B_II:3" "00360323" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_B_II:5" "00360324" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_B_II:6" "00360325" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_B_II:8" "00360326" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_B_III:1" "00360327" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_B_III:2" "00360328" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_B_III:3" "00360329" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_B_III:4" "00360330" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_C_II:2" "00360331" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_C_II:3" "00360332" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_C_II:4" "00360333" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_C_III:2" "00360334" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 1" "00360335" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 2" "00360336" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 3" "00360337" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 4" "00360338" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 5" "00360339" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 6" "00360340" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 7" "00360341" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 8" "00360342" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 9" "00360343" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 10" "00360344" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 11" "00360345" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 12" "00360346" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 13" "00360347" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 14" "00360348" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 15" "00360349" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 16" "00360350" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 17" "00360351" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 18" "00360352" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 19" "00360353" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 20" "00360354" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 21" "00360355" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 22" "00360356" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 23" "00360357" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 24" "00360358" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 25" "00360359" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 26" "00360360" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 27" "00360361" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 28" "00360362" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 29" "00360363" "" "" "" "1" "" "04036" "{PMID:Sullivan 2013:23950152}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown" "00360364" "" "" "" "1" "" "04036" "{PMID:Van Cauwenbergh 2017:28076437}" "index case" "" "" "Belgium" "" "0" "" "" "white" "FAM_040" "00360365" "" "" "" "1" "" "04036" "{PMID:Kersten 2018:30215852}" "index case" "F" "no" "Netherlands" "" "0" "" "" "white" "" "00360366" "" "" "" "1" "" "04036" "{PMID:Kersten 2018:30215852}" "index case" "F" "no" "Netherlands" "" "0" "" "" "white" "" "00360367" "" "" "" "1" "" "04036" "{PMID:Kersten 2018:30215852}" "index case" "M" "no" "Netherlands" "" "0" "" "" "white" "" "00360368" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "28" "00360369" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "63" "00360370" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "64" "00360371" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "65" "00360372" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "66" "00360373" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "190" "00360374" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "117" "00360375" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Brother index case (Family_B_II:2)" "M" "no" "Netherlands" "" "0" "" "" "white" "Patient 55 (Family_B_II:1)" "00360376" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case, sister Family_B_II:1" "F" "no" "Netherlands" "" "0" "" "" "white" "Patient 55.1 (Family_B_II:2)" "00360377" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided." "" "no" "Spain" "" "0" "" "" "white" "Unknown1" "00360378" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided." "" "no" "Spain" "" "0" "" "" "white" "Unknown2" "00360379" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided." "" "no" "Spain" "" "0" "" "" "white" "Unknown3" "00360380" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided." "" "no" "Spain" "" "0" "" "" "white" "Unknown4" "00360381" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided." "" "no" "Spain" "" "0" "" "" "white" "Unknown5" "00360382" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided." "" "no" "Spain" "" "0" "" "" "white" "Unknown6" "00360383" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown7 are members of the same family. However, no pedigree, nor who is the proband was provided." "" "no" "Spain" "" "0" "" "" "white" "Unknown7" "00360384" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "" "" "Spain" "" "0" "" "" "white" "DM-3" "00360385" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Sister index case (Family_D_II:3), aunt Family_D_III:1" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_D_II:2" "00360386" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case, sister Family_B_II:2, mother Family_B_III:1" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_D_II:3" "00360387" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Daughter index case (Family_D_II:3), niece Family_D_II:2" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_D_III:1" "00360388" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case, mother Family_E_IV:1, sister Family_E_III:14 and Family_E_III:15" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_E_III:3" "00360389" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Brother index case (Family_E_III:3) and Family_E_III:15, uncle Family_E_IV:1" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_E_III:14" "00360390" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Sister index case (Family_E_III:3) and Family_E_III:14, aunt Family_E_IV:1" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_E_III:15" "00360391" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Daughter index case (Family_E_III:3), niece Family_E_III:14 end Family_E_III:15" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_E_IV:1" "00360392" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "Israel" "" "0" "" "" "Arab" "Patient 56 (R728)" "00360393" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "Patientt 57 (0051_7735)" "00360394" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 58" "00360395" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Mother index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 59" "00360396" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 60" "00360397" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "139" "00360398" "" "" "" "1" "" "04036" "{PMID:Jin 2008:18310263}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "S_085" "00360399" "" "" "" "1" "" "04036" "{PMID:Jin 2008:18310263}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "M_0056" "00360400" "" "" "" "1" "" "04036" "{PMID:Jin 2008:18310263}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "M_0146" "00360401" "" "" "" "1" "" "04036" "{PMID:Lee 2015:25910913}" "index case, has two sisters who have been diagnosed with Stargardt disease. Mother was known to have age-related macular degeneration. No mutation screening performed in family members; inheritance not clear, since parents don\'t show Stargardt phenotype, a familial, autosomal recessive inhertitance of disease was suspected" "M" "no" "United States" "" "0" "" "" "(white)" "Participant 24" "00360402" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 61" "00360403" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "Family_K153R_patient1 - Family_K153R_patient5 belong to same family. However index case was not indicated." "" "no" "United States" "" "0" "" "" "" "Family_K153R_patient1" "00360404" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "Family_K153R_patient1 - Family_K153R_patient5 belong to same family. However index case was not indicated." "" "no" "United States" "" "0" "" "" "" "Family_K153R_patient2" "00360405" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "Family_K153R_patient1 - Family_K153R_patient5 belong to same family. However index case was not indicated." "" "no" "United States" "" "0" "" "" "" "Family_K153R_patient3" "00360406" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "Family_K153R_patient1 - Family_K153R_patient5 belong to same family. However index case was not indicated." "" "no" "United States" "" "0" "" "" "" "Family_K153R_patient4" "00360407" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "Family_K153R_patient1 - Family_K153R_patient5 belong to same family. However index case was not indicated." "" "no" "United States" "" "0" "" "" "" "Family_K153R_patient5" "00360408" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "F" "" "Germany" "" "0" "" "" "white" "703" "00360409" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "26" "00360410" "" "" "" "1" "" "04036" "{PMID:Wang 2015: 26047050}" "index case" "F" "" "China" "" "0" "" "" "Asia" "571" "00360411" "" "" "" "1" "" "04036" "{PMID:Arai 2015:26161267}" "index case" "F" "" "Japan" "" "0" "" "" "Asia" "Patient 6" "00360412" "" "" "" "1" "" "04036" "{PMID:Gao 2019:31054281}" "index case" "" "" "China" "" "0" "" "" "Asia" "RD18184099_B" "00360413" "" "" "" "1" "" "04036" "{PMID:Weleber 1993:8240110}" "index case, mother of Patient_2_II:1, Patient_3_II:2, and Patient_4_II:3" "F" "no" "United States" "" "0" "" "" "" "Patient_1_I:1" "00360414" "" "" "" "1" "" "04036" "{PMID:Weleber 1993:8240110}" "Daughter index case, sister Patient_3_II:2, and Patient_4_II:3" "F" "no" "United States" "" "0" "" "" "" "Patient_2_II:1" "00360415" "" "" "" "1" "" "04036" "{PMID:Weleber 1993:8240110}" "Son index case, brother Patient_2_II:1, and Patient_3_II:3" "M" "no" "United States" "" "0" "" "" "" "Patient_4_II:2" "00360416" "" "" "" "1" "" "04036" "{PMID:Weleber 1993:8240110}" "Daughter index case, sister Patient_2_II:1, and Patient_3_II:2" "F" "no" "United States" "" "0" "" "" "" "Patient_3_II:3" "00360417" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case" "M" "" "Spain" "" "0" "" "" "white" "Family_3_V:2" "00360418" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "67" "00360419" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "68" "00360420" "" "" "" "1" "" "04036" "{PMID:Nanda 2019:30731082}" "index case" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Case 3" "00360421" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "Germany" "" "0" "" "" "white" "Patient 62" "00360422" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "index case of this family not indicated, nor the number of affected memebers carryining this variant" "" "" "United States" "" "0" "" "" "" "Family_Asp157Asn" "00360423" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case" "M" "no" "Netherlands" "" "0" "" "" "white" "Family_A_patient1" "00360424" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "17" "00360425" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "69" "00360426" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "197" "00360427" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "70" "00360428" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "154" "00360429" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "71" "00360430" "" "" "" "1" "" "04036" "{PMID:Souied 1998:9673478}" "index case, father of Family_2_III:2" "M" "no" "France" "" "0" "" "" "white" "Family_2_II:4" "00360431" "" "" "" "1" "" "04036" "{PMID:Souied 1998:9673478}" "Son index case" "M" "no" "France" "" "0" "" "" "white" "Family_2_III:2" "00360432" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Mother index case/PHRC218_IV:2/PHRC218_IV:3/PHRC218_IV:6, aunt PHRC218_IV:8/PHRC218_IV:9, sister PHRC218_III:7, grandmother of PHRC218_V:2" "F" "no" "France" "" "0" "" "" "white" "PHRC218_III:2" "00360433" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Aunt index case/PHRC218_IV:2/PHRC218_IV:3/PHRC218_IV:6, mother PHRC218_IV:8/PHRC218_IV:9, sister PHRC218_III:2, grandmother of PHRC218_V:3" "F" "no" "France" "" "0" "" "" "white" "PHRC218_III:7" "00360434" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Sister index case/PHRC218_IV:3/PHRC218_IV:6, daughter PHRC218_III:2, niece PHRC218_IV:8/PHRC218_IV:9/PHRC218_III:7, mother of PHRC218_V:2" "F" "no" "France" "" "0" "" "" "white" "PHRC218_IV:2" "00360435" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Brother index case/PHRC218_IV:2/PHRC218_IV:6, son PHRC218_III:2, cousin PHRC218_IV:8/PHRC218_IV:9/PHRC218_III:7, uncle of PHRC218_V:2" "M" "no" "France" "" "0" "" "" "white" "PHRC218_IV:3" "00360436" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Sister index case/PHRC218_IV:2/PHRC218_IV:3, daughter PHRC218_III:2, niece PHRC218_IV:8/PHRC218_IV:9/PHRC218_III:7, aunt of PHRC218_V:2" "F" "no" "France" "" "0" "" "" "white" "PHRC218_IV:6" "00360437" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, sister of PHRC218_IV:2/PHRC218_IV:3/PHRC218_IV:6, daughter of PHRC218_III:2, niece of PHRC218_IV:8/PHRC218_IV:9/PHRC218_III:7, aunt of PHRC218_V:2" "F" "no" "France" "" "0" "" "" "white" "PHRC218_IV:7" "00360438" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Cousin index case/PHRC218_IV:2/PHRC218_IV:3/PHRC218_IV:6/PHRC218_III:2, son PHRC218_III:7, brother PHRC218_IV:9, uncle of PHRC218_V:3" "M" "no" "France" "" "0" "" "" "white" "PHRC218_IV:8" "00360439" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Niece index case/PHRC218_IV:2/PHRC218_IV:3/PHRC218_IV:6/PHRC218_III:2, daughter PHRC218_III:7, sister PHRC218_IV:8, mother of PHRC218_V:3" "F" "no" "France" "" "0" "" "" "white" "PHRC218_IV:9" "00360440" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Niece index case/PHRC218_IV:3/PHRC218_IV:6/PHRC218_IV:8/PHRC218_IV:9/PHRC218_V:3, daughter PHRC218_IV:2, grand daughter PHRC218_III:2" "F" "no" "France" "" "0" "" "" "white" "PHRC218_V:2" "00360441" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Cousin index case/PHRC218_IV:2/PHRC218_IV:3/PHRC218_IV:6/PHRC218_IV:8/PHRC218_V:2, son PHRC218_IV:9, grandson PHRC218_III:7" "M" "no" "France" "" "0" "" "" "white" "PHRC218_V:3" "00360442" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, father of PHRC245_II:1" "M" "no" "France" "" "0" "" "" "white" "PHRC245_I:2" "00360443" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son index case" "M" "no" "France" "" "0" "" "" "white" "PHRC245_II:1" "00360444" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "F" "no" "France" "" "0" "" "" "white" "PHRC289_II:1" "00360445" "" "" "" "1" "" "04036" "{PMID:Simonelli 2007:17851265}" "Mother of III-1, sister of II-2 and II-3, niece of II-5 and II-7, aunt of III-3 and III-5" "F" "no" "Italy" "" "0" "" "" "white" "II-1" "00360446" "" "" "" "1" "" "04036" "{PMID:Simonelli 2007:17851265}" "Sister of II-1 and II-3, niece of II-5 and II-7, aunt of III-1, III-3 and III-5" "F" "no" "Italy" "" "0" "" "" "white" "II-2" "00360447" "" "" "" "1" "" "04036" "{PMID:Simonelli 2007:17851265}" "Sister of II-1 and II-2, mother of III:3, niece of II-5 and II-7 aunt of III-1 and III-5" "F" "no" "Italy" "" "0" "" "" "white" "II-3" "00360448" "" "" "" "1" "" "04036" "{PMID:Simonelli 2007:17851265}" "Mother of III-5, niece of II-1, II-2, II-3 and II-7, aunt of III-1 and III-3" "F" "no" "Italy" "" "0" "" "" "white" "II-5" "00360449" "" "" "" "1" "" "04036" "{PMID:Simonelli 2007:17851265}" "Cousin of II-1, II-2, II-3 and II-5, uncle of III-1, III-3, and III-5" "M" "no" "Italy" "" "0" "" "" "white" "II-7" "00360450" "" "" "" "1" "" "04036" "{PMID:Simonelli 2007:17851265}" "Son of II-1, cousin of III-3, III-5, II-2, II-3, II-5, II-7" "M" "no" "Italy" "" "0" "" "" "white" "III-1" "00360451" "" "" "" "1" "" "04036" "{PMID:Simonelli 2007:17851265}" "Daughter of II-3, niece of III-1, III-5, II-1, II-2, II-5, II-7" "F" "no" "Italy" "" "0" "" "" "white" "III-3" "00360452" "" "" "" "1" "" "04036" "{PMID:Simonelli 2007:17851265}" "Daughter of II-5, niece of III-1, III-3, II-1, II-2, II-3, II-7" "F" "no" "Italy" "" "0" "" "" "white" "III-5" "00360453" "" "" "" "1" "" "04036" "{PMID:Khan 2016:26061163}" "Father index case" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Family_1_I:1" "00360454" "" "" "" "1" "" "04036" "{PMID:Khan 2016:26061163}" "Mother index case" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Family_1_I:2" "00360455" "" "" "" "1" "" "04036" "{PMID:Khan 2016:26061163}" "index case, son of Family_1_I:1 and Family_1_I:1" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Family_1_II:1" "00360456" "" "" "" "1" "" "04036" "{PMID:Khan 2016:26061163}" "Mother index case" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Family_3_I:2" "00360457" "" "" "" "1" "" "04036" "{PMID:Khan 2016:26061163}" "index case, son Family_3_I:2, brother Family_3_II:2" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Family_3_II:1" "00360458" "" "" "" "1" "" "04036" "{PMID:Khan 2016:26061163}" "Brother index case, son Family_3_I:2" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "Family_3_II:2" "00360459" "" "" "" "1" "" "04036" "{PMID:Patel 2016:26355662}" "index case" "" "" "Saudi Arabia" "" "0" "" "" "Arab" "10DG0917" "00360460" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 63" "00360461" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "" "Australia" "" "0" "" "" "white" "Patient 64 (IRD5672)" "00360462" "" "" "" "1" "" "04036" "{PMID:Testa 2005:16024869}" "index case, father of family1_II:1 and family1_II:2" "M" "no" "Italy" "" "0" "" "" "white" "Family1_I:1" "00360463" "" "" "" "1" "" "04036" "{PMID:Testa 2005:16024869}" "Daughter in index case, sister of family1_II:2" "F" "no" "Italy" "" "0" "" "" "white" "Family1_II:1" "00360464" "" "" "" "1" "" "04036" "{PMID:Testa 2005:16024869}" "Daughter index case, sister of family1_II:1" "F" "no" "Italy" "" "0" "" "" "white" "Family1_II:2" "00360465" "" "" "" "1" "" "04036" "{PMID:Meunier 2011:21269699}" "index case" "F" "" "France" "" "0" "" "" "white" "Adult vitelliform macular dystrophy_patient 5" "00360466" "" "" "" "1" "" "04036" "{PMID:Strom 2012:22863181}" "index case" "M" "" "United States" "" "0" "" "" "" "STGD-04" "00360467" "" "" "" "1" "" "04036" "{PMID:Glöckle 2014:23591405}" "index case" "" "" "Germany" "" "0" "" "" "white" "606" "00360468" "" "" "" "1" "" "04036" "{PMID:Oishi 2014:25324289}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "K6274" "00360469" "" "" "" "1" "" "04036" "{PMID:Zaneveld 2015:25474345}" "index case" "" "" "Canada" "" "0" "" "" "French Canadian" "57 / FC" "00360470" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case, mother of Family_4_IV-1 and Family_4_IV-2" "F" "no" "Spain" "" "0" "" "" "white" "Family_4_III-1" "00360471" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "Daughter index case, sister of Family_4_IV-2" "F" "no" "Spain" "" "0" "" "" "white" "Family_4_IV-1" "00360472" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "Daughter index case, sister of Family_4_IV-1" "F" "no" "Spain" "" "0" "" "" "white" "Family_4_IV-2" "00360473" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "147" "00360474" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_II:2" "00360475" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_II:3" "00360476" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_II:9" "00360477" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "M" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_II:11" "00360478" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_II:14" "00360479" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_III:1" "00360480" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_III:3" "00360481" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_III:7" "00360482" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_III:11" "00360483" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_III:15" "00360484" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8485574}" "Family_butterfly-shaped_PD_II:2 - Family_butterfly-shaped_PD_III:18 belong to same family." "F" "no" "United States" "" "0" "" "" "(white)" "Family_butterfly-shaped_PD_III:18" "00360485" "" "" "" "1" "" "04036" "{PMID:Ba-Abbad 2019:31063015}" "index case" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Unknown" "00360486" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 65" "00360487" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 66" "00360488" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Father of IV:1, brother of III:2/III:4/III:6/III:7/III:8/III:10, uncle of IV:2/IV:3/IV:9" "M" "no" "Netherlands" "" "0" "" "" "white" "III:1" "00360489" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Father of IV:2 and IV:3, brother of III:1/III:4/III:6/III:7/III:8/III:10, uncle of IV:1 and IV:9" "M" "no" "Netherlands" "" "0" "" "" "white" "III:2" "00360490" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Brother of III:1/III:2/III:6/III:7/III:8/III:10, uncle of IV:1/IV:2/IV:3/IV:9" "M" "no" "Netherlands" "" "0" "" "" "white" "III:4" "00360491" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Sister of III:1/III:2/III:4/III:7/III:8/III:10, aunt of IV:1/IV:2/IV:3/IV:9" "F" "no" "Netherlands" "" "0" "" "" "white" "III:6" "00360492" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Sister of III:1/III:2/III:4/III:6/III:8/III:10, aunt of IV:1/IV:2/IV:3/IV:9" "F" "no" "Netherlands" "" "0" "" "" "white" "III:7" "00360493" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Brother of III:1/III:2/III:4/III:6/III:7/III:10, uncle of IV:1/IV:2/IV:3/IV:9" "M" "no" "Netherlands" "" "0" "" "" "white" "III:8" "00360494" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Father of IV:9, brother of III:1/III:2/III:4/III:6/III:7/III:8, uncle of IV:1/IV:2/IV:3" "M" "no" "Netherlands" "" "0" "" "" "white" "III:10" "00360495" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Daugther of III:1, niece of III:2/III:4/III:6/III:7/III:8/III:10/IV:2/IV:3/IV:9" "F" "no" "Netherlands" "" "0" "" "" "white" "IV:1" "00360496" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Daughter of III:2, sister of IV:3, niece of III:1/III:4/III:6/III:7/III:8/III:10/IV:1/IV:9" "F" "no" "Netherlands" "" "0" "" "" "white" "IV:2" "00360497" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Daughter of III:2, sister of IV:2, niece of III:1/III:4/III:6/III:7/III:8/III:10/IV:1/IV:9" "F" "no" "Netherlands" "" "0" "" "" "white" "IV:3" "00360498" "" "" "" "1" "" "04036" "{PMID:van Lith-Verhoeven 2003:14557182}" "Daughter of III:10, niece of III:1/III:2/III:4/III:6/III:7/III:8/IV:1/IV:2/IV:3" "F" "no" "Netherlands" "" "0" "" "" "white" "IV:9" "00360499" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:93251036}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "Unknown" "00360500" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Brazil" "" "0" "" "" "" "Patient 67 (LEV)" "00360501" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 68 (OPH1818)" "00360502" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "Australia" "" "0" "" "" "" "Patient 69 (IRD0749)" "00360503" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 70" "00360504" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 71" "00360505" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 72" "00360506" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 73" "00360507" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 74" "00360508" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 75" "00360509" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Brother index case, uncle of family_3_III:1/III:2." "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_3_II:3" "00360510" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "index case, brother of family_3_II:3, father of family_3_III:1/III:2, grandfather of family_3_IV:2/IV:5" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_3_II:4" "00360511" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Daughter index case, niece of family_3_II:3, sister family_3_III:2, mother of family_3_IV:2, aunt of family_3_IV:5" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_3_III:1" "00360512" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Son index case, cousin of family_3_II:3, brother of family_3_III:1, father of family_3_IV:5, uncle of family_3_IV:2" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_3_III:2" "00360513" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Grand daughter index case, daughter family_3_III:1, niece of family_3_III:2/IV:5" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_3_IV:2" "00360514" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Grand son index case, son of family_III:2, cousin of family_3_III:1/IV:2" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_3_IV:5" "00360515" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Aunt index case/family_4_III:4" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_4_II:1" "00360516" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "index case, cousin family_4_II:1, brother family_4_III:4, father of family_4_IV:2" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_4_III:3" "00360517" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Sister index case, niece of family_4_II:1, aunt of family_4_IV:2" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_4_III:4" "00360518" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Daughter index case, niece of family_III:4" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_4_IV:2" "00360519" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1995:8747448}" "index case, father of IV:2" "M" "no" "Japan" "" "0" "" "" "Asia" "III:4" "00360520" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1995:8747448}" "Son index case" "M" "no" "Japan" "" "0" "" "" "Asia" "IV:2" "00360521" "" "" "" "1" "" "04036" "{PMID:Reig 1995:7493155}" "index case, father of patient 4 and 5" "M" "no" "Spain" "" "0" "" "" "white" "Patient 1" "00360522" "" "" "" "1" "" "04036" "{PMID:Reig 1995:7493155}" "Daughter index case, sister patient 5." "F" "no" "Spain" "" "0" "" "" "white" "Patient 4" "00360523" "" "" "" "1" "" "04036" "{PMID:Reig 1995:7493155}" "Son index case, brother of patient 4" "M" "no" "Spain" "" "0" "" "" "white" "Patient 5" "00360524" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "index case of this family not indicated, nor the number of affected memebers carryining this variant" "" "" "United States" "" "0" "" "" "" "Family_1_Arg172Trp" "00360525" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "index case of this family not indicated, nor the number of affected memebers carryining this variant" "" "" "United States" "" "0" "" "" "" "Family_2_Arg172Trp" "00360526" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "Mother of family_W/K_IV:2, sister of family_W/K_III:3, aunt of family_W/K_IV:4/IV:5" "F" "no" "Germany" "" "0" "" "" "white" "Family_W/K_III:2" "00360527" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "Father of family_W/K_IV:4/IV:5, brother of family_W/K_III:2, aunt of family_W/K_IV:2" "M" "no" "Germany" "" "0" "" "" "white" "Family_W/K_III:3" "00360528" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "Son of family_W/K_III:3, brother of family_W/K_IV:5, cousin of family_W/K_III:2/IV:2" "M" "no" "Germany" "" "0" "" "" "white" "Family_W/K_IV:4" "00360529" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "Son of family_W/K_III:2, cousin of family_W/K_III:3/IV:4/IV:5" "M" "no" "Germany" "" "0" "" "" "white" "Family_W/K_IV:2" "00360530" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "Daughter of family_W/K_III:3, sister of family_W/K_IV:4, niece of family_W/K_III:2/IV:2" "F" "no" "Germany" "" "0" "" "" "white" "Family_W/K_IV:5" "00360531" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_1/Family_A_II:2" "00360532" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_1/Family_A_IV:1" "00360533" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_2/Family_B_IV:1" "00360534" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_4/Family_D_II:4" "00360535" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_4/Family_D_III:1" "00360536" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_5/Family_E_III:2" "00360537" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_5/Family_E_IV:2" "00360538" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_6/Family_F_II:2" "00360539" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_7/Family_H_III:1" "00360540" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_7/Family_H_IV;1" "00360541" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_8/Family_I_III:1" "00360542" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_8/Family_I_IV;1" "00360543" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_9/Family_J_II:3" "00360544" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_9/Family_J_III:1" "00360545" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_10/Family_K_III:2" "00360546" "" "" "" "1" "" "04036" "{PMID:Downes 1999:10532447}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_11/Family_L_IV:11" "00360547" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9810570)" "Father III:4, brother II:4/II:4, uncle III:5/III:6/III:8" "M" "no" "Sweden" "" "0" "" "" "white" "II:2" "00360548" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9810570)" "Mother III:5/III:6, sister II:2/II:4, aunt III:4/III:8" "F" "no" "Sweden" "" "0" "" "" "white" "II:3" "00360549" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9810570)" "Mother III:8, sister II:2/II:3, aunt III:4/III:5/III:6" "F" "no" "Sweden" "" "0" "" "" "white" "II:4" "00360550" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9810570)" "Daughter II:2, niece II:3/II:4/III:5/III:6/III:8" "F" "no" "Sweden" "" "0" "" "" "white" "III:4" "00360551" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9810570)" "Son II:3, brother III:6, cousin II:2/II:4/III:4/III:8" "M" "no" "Sweden" "" "0" "" "" "white" "III:5" "00360552" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9810570)" "Daughter II:3, sister III:5, niece II:2/II:4/III:4/III:8" "F" "no" "Sweden" "" "0" "" "" "white" "III:6" "00360553" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9810570)" "Son II:4, cousin II:2/II:3/III:4/III:5/III:6" "M" "no" "Sweden" "" "0" "" "" "white" "III:8" "00360554" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:10193525}" "index case" "" "" "Sweden" "" "0" "" "" "white" "RP13" "00360555" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "" "no" "Canada" "" "0" "" "" "white" "IV-4" "00360556" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "" "no" "Canada" "" "0" "" "" "white" "IV-6" "00360557" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "" "no" "Canada" "" "0" "" "" "white" "IV-12" "00360558" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "" "no" "Canada" "" "0" "" "" "white" "IV-37" "00360559" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "" "no" "Canada" "" "0" "" "" "white" "V-2" "00360560" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "" "no" "Canada" "" "0" "" "" "white" "V-6" "00360561" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "" "no" "Canada" "" "0" "" "" "white" "V-8" "00360562" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "index case" "M" "no" "Canada" "" "0" "" "" "white" "V-14" "00360563" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "" "no" "Canada" "" "0" "" "" "white" "V-20" "00360564" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "M" "no" "Canada" "" "0" "" "" "white" "V-39" "00360565" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "F" "no" "Canada" "" "0" "" "" "white" "VI-4" "00360566" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "Daughter index case" "F" "no" "Canada" "" "0" "" "" "white" "VI-7" "00360567" "" "" "" "1" "" "04036" "{PMID:Donoso 2003:12608515)" "IV-4 till VI-27 belong to the same seven-generation family , pedigree not fully depicted by authors" "F" "no" "Canada" "" "0" "" "" "white" "VI-27" "00360568" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated. Family member of IV:2/IV:9/IV:11/IV:13 and V:5/V:6/V:9/V:10" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "III:9" "00360569" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated.Niece IV:9/IV:11/IV:13, familymemebr III:9/V:5/V:6/V:9/V:10" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "IV:2" "00360570" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated. Father V:5, brother IV:11/IV:13, uncle of V:6/V:9/V:10, cousin IV:2, familymember III:9" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "IV:9" "00360571" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated.Father V:6, brother IV:9/IV:13, uncle of V:5/V:9/V:10, cousin IV:2, familymember III:9" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "IV:11" "00360572" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated.Father V:9/V:10, brother IV:9/IV:11, uncle of V:5/V:6, cousin IV:2, familymember III:9" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "IV:13" "00360573" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated. Daughter of IV:9, niece IV:11/IV:13/V:6/V:9/V:10, familymember of IV:2/III:9" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "V:5" "00360574" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated. Daughter IV:11, niece IV:9/IV:13/V:5/V:9/V:10, familymember IV:2/III:9" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "V:6" "00360575" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated. Son of IV:13, brother of V:10, cousin IV:9/IV:11/V:5/V:6, familymember IV:2/III:9" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "V:9" "00360576" "" "" "" "1" "" "04036" "{PMID:Michaelides 2005:16019073}" "index case not indicated. Son of IV:13, brother of V:9, cousin IV:9/IV:11/V:5/V:6, familymember IV:2/III:9" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "V:10" "00360577" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "" "" "Spain" "" "0" "" "" "white" "FAM_DM-15b" "00360578" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case. Father of FAM_DM-16b_III:11 and FAM_DM-16b_III:12" "M" "no" "Spain" "" "0" "" "" "white" "FAM_DM-16b_II:7" "00360579" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Daughter of index case, sister of FAM_DM-16b_III:12" "F" "no" "Spain" "" "0" "" "" "white" "FAM_DM-16b_III:11" "00360580" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Son index case, brother of FAM_DM-16b_III:11" "M" "no" "Spain" "" "0" "" "" "white" "FAM_DM-16b_III:12" "00360581" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case not indicated" "F" "no" "Germany" "" "0" "" "" "white" "5254-F519 daughter" "00360582" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case not indicated" "M" "no" "Germany" "" "0" "" "" "white" "5254-F519 son" "00360583" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case not indicated" "F" "no" "Germany" "" "0" "" "" "white" "5254-F519 mother" "00360584" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 1" "00360585" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 2" "00360586" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 3" "00360587" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 4" "00360588" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 5" "00360589" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 6" "00360590" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 7" "00360591" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 8" "00360592" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 9" "00360593" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 10" "00360594" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 11" "00360595" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 12" "00360596" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 1 case 13" "00360597" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 2 case 1" "00360598" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 2 case 2" "00360599" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 3 case 1" "00360600" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case not indicated" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 3 case 2" "00360601" "" "" "" "1" "" "04036" "{PMID:Anand 2009:19262438}" "index case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "(white)" "Family 4 case 1" "00360602" "" "" "" "1" "" "04036" "{PMID:Poloschek 2010:20335603)" "Sister III-2, mother IV-7, aunt IV-1/index case, familymember V-1/V-2/V-4" "F" "no" "Germany" "" "0" "" "" "white" "28630 (III-4)" "00360603" "" "" "" "1" "" "04036" "{PMID:Poloschek 2010:20335603)" "Daugther III-4, niece IV-1/index case/III-2, familymember V-1/V-2/V-4" "F" "no" "Germany" "" "0" "" "" "white" "28632 (IV-7)" "00360604" "" "" "" "1" "" "04036" "{PMID:Poloschek 2010:20335603)" "Daughter IV-1, grand daughter III-2, sister V-1, niece index case/IV-1/IV-7, familymember III-4" "F" "no" "Germany" "" "0" "" "" "white" "28587 (V-2)" "00360605" "" "" "" "1" "" "04036" "{PMID:Poloschek 2010:20335603)" "Mother IV-1/index case, sister III-4, aunt IV-7, grand mother V-1/V-2/V-7" "F" "no" "Germany" "" "0" "" "" "white" "28589 (III-2)" "00360606" "" "" "" "1" "" "04036" "{PMID:Poloschek 2010:20335603)" "Son III-2, brother index case, father V-1/V-2, uncle V-4, cousin IV-7, family member III-2" "M" "no" "Germany" "" "0" "" "" "white" "28590 (IV-1)" "00360607" "" "" "" "1" "" "04036" "{PMID:Poloschek 2010:20335603)" "Son IV-1, brother V-2, cousin V-4/index case, grand son III-2, familymember III-4, IV-7" "M" "no" "Germany" "" "0" "" "" "white" "28582 (V-1)" "00360608" "" "" "" "1" "" "04036" "{PMID:Poloschek 2010:20335603)" "index case, mother V-4, aunt V-1/V-2, daughter III-2, sister IV-1, niece IV-7, family member III-4" "F" "no" "Germany" "" "0" "" "" "white" "26593 (IV-4)" "00360609" "" "" "" "1" "" "04036" "{PMID:Poloschek 2010:20335603)" "Daughter index case, niece V-1/V-2/IV-1, grand daughter III-2, family member III-4/IV-7" "F" "no" "Germany" "" "0" "" "" "white" "28583 (V-4)" "00360610" "" "" "" "1" "" "04036" "{PMID:Yeoh 2010:20640437}" "index case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Patient 13" "00360611" "" "" "" "1" "" "04036" "{PMID:Duncan 2011:21071739}" "index case" "" "" "United States" "" "0" "" "" "" "Patient 2" "00360612" "" "" "" "1" "" "04036" "{PMID:Strom 2012:22863181}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown" "00360613" "" "" "" "1" "" "04036" "{PMID:Ba-Abbad 2014:24608669}" "index case" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Case 2" "00360614" "" "" "" "1" "" "04036" "{PMID:Ba-Abbad 2014:24608669}" "index case" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Case 3" "00360615" "" "" "" "1" "" "04036" "{PMID:Alpati 2014:25082885}" "index case, mother IV:1, niece III:4" "F" "no" "United States" "" "0" "" "" "(white)" "Cone-rod-dystrophy_Patient 28 (case 5 = III:2)" "00360616" "" "" "" "1" "" "04036" "{PMID:Alpati 2014:25082885}" "Cousin index case" "M" "no" "United States" "" "0" "" "" "(white)" "III:4" "00360617" "" "" "" "1" "" "04036" "{PMID:Alpati 2014:25082885}" "Son index case" "F" "no" "United States" "" "0" "" "" "(white)" "IV:1" "00360618" "" "" "" "1" "" "04036" "{PMID:Maertz 2015:25803555}" "index case, father patient 2" "M" "no" "Germany" "" "0" "" "" "white" "Patient 1" "00360619" "" "" "" "1" "" "04036" "{PMID:Maertz 2015:25803555}" "Daughter index case" "F" "no" "Germany" "" "0" "" "" "white" "Patient 2" "00360620" "" "" "" "1" "" "04036" "{PMID:Boulanger 2015:26103963}" "index case" "" "no" "France" "" "0" "" "" "white" "FAM2115_CIC06757" "00360621" "" "" "" "1" "" "04036" "{PMID:Boulanger 2015:26103963}" "Sister index case" "F" "no" "France" "" "0" "" "" "white" "FAM2115_CIC06756" "00360622" "" "" "" "1" "" "04036" "{PMID:Boulanger 2015:26103963}" "Cousin index case" "M" "no" "France" "" "0" "" "" "white" "FAM2115_CIC06921" "00360623" "" "" "" "1" "" "04036" "{PMID:Boulanger 2015:26103963}" "Cousin index case" "M" "no" "France" "" "0" "" "" "white" "FAM2115_CIC04385" "00360624" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "12,1" "00360625" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case 12,1" "F" "no" "United States" "" "0" "" "" "(white)" "12,2" "00360626" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "22" "00360627" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "72" "00360628" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "no" "United States" "" "0" "" "" "(white)" "73,1" "00360629" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case 73,1" "F" "no" "United States" "" "0" "" "" "(white)" "73,2" "00360630" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case 73,1" "M" "no" "United States" "" "0" "" "" "(white)" "73,3" "00360631" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case 73,1" "F" "no" "United States" "" "0" "" "" "(white)" "73,4" "00360632" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "74" "00360633" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "75" "00360634" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "128" "00360635" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "134" "00360636" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "145" "00360637" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Poland" "" "0" "" "" "white" "Patient 76 (1202)" "00360638" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 77" "00360639" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Germany" "" "0" "" "" "white" "Patient 78 (24171)" "00360640" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Aunt index case and Family_2_III:2/Family_3_III:8, sister Family_2_II:6/Family_3_II:7" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_2_II:5/Family_3_II:4/FAM_12/FAM_G" "00360641" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Uncle index case and Family_2_III:2/Family_3_III:8, brother Family_2_II:5/Family_3_II:4" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_2_II:6/Family_3_II:7/FAM_12/FAM_G" "00360642" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "index case, cousin Family_2_II:5/Family_3_II:4 and Family_2_II:6/Family_3_II:7, brother Family_2_III:2/Family_3_III:8" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_2_III:1 /Family_3_III:7 /FAM_12/FAM_G" "00360643" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}" "Brother index case, cousin Family_2_II:5/Family_3_II:4 and Family_2_II:6/Family_3_II:7" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_2_III:2/Family_3_III:8/FAM_12/FAM_G" "00360644" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case, daughter of 5009-F500-2" "F" "no" "Germany" "" "0" "" "" "white" "5009-F500-1" "00360645" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "Father index case" "M" "no" "Germany" "" "0" "" "" "white" "5009-F500-2" "00360646" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated. Mother of family_D_V:2, sister of family_D_IV:5, aunt of family_D_V:5/V:6" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_D_IV:2" "00360647" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated. Mother of family_D_V:5/V:6, sister of family_D_IV:2, aunt of family_D_V:2" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_D_IV:5" "00360648" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated. Daughter family_D_IV:2, niece of family_D_IV:5/V:5/V:6" "F" "no" "Netherlands" "" "0" "" "" "white" "Family_D_V:2" "00360649" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated Daughter of family_D_IV:5, sister of family_D_V:6, niece of family_D_IV:2/V:2." "F" "no" "Netherlands" "" "0" "" "" "white" "Family_D_V:5" "00360650" "" "" "" "1" "" "04036" "{PMID:Boon 2009:19243827}" "index case not indicated. Daughter of family_D_IV:5, sister of family_D_V:5, niece of family_D_IV:2/V:2." "F" "no" "Netherlands" "" "0" "" "" "white" "Family_D_V:6" "00360651" "" "" "" "1" "" "04036" "{PMID:Smailhodzic 2011:22003107}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 30" "00360652" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 7" "00360653" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "15" "00360654" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "76" "00360655" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "index case" "" "no" "Spain" "" "0" "" "" "white" "Patient 2" "00360656" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #1 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #1 of patient 2" "00360657" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #2 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #2 of patient 2" "00360658" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #3 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #3 of patient 2" "00360659" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #4 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #4 of patient 2" "00360660" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #5 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #5 of patient 2" "00360661" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #6 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #6 of patient 2" "00360662" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #7 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #7 of patient 2" "00360663" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #8 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #8 of patient 2" "00360664" "" "" "" "1" "" "04036" "{PMID:Grüning 1994: 8019570 }" "Familymember #9 of patient 2" "" "no" "Spain" "" "0" "" "" "white" "Familymember #9 of patient 2" "00360665" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_II:4" "00360666" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_III:3" "00360667" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_III:4" "00360668" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_III:6" "00360669" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "M" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_III:10" "00360670" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:2" "00360671" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "M" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:3" "00360672" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "M" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:4" "00360673" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:5" "00360674" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "M" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:7" "00360675" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:8" "00360676" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "M" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:13" "00360677" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:16" "00360678" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "F" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:17" "00360679" "" "" "" "1" "" "04036" "{PMID:Vilela 1996:8740695}" "index case not indicated" "M" "no" "Spain" "" "0" "" "" "white" "Family_ADRP7_IV:18" "00360680" "" "" "" "1" "" "04036" "{PMID:de Sousa 2015:26321861}" "index case" "" "" "Spain" "" "0" "" "" "white" "Patient 1" "00360681" "" "" "" "1" "" "04036" "{PMID:Gao 2019:31054281}" "index case" "" "" "China" "" "0" "" "" "Asia" "Unknown" "00360682" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 79" "00360683" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 80" "00360684" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "127" "00360685" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Australia" "" "0" "" "" "white" "Patient 81 (IRD4964)" "00360686" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "118" "00360687" "" "" "" "1" "" "04036" "{PMID:Consugar 2015:25412400}" "index case" "" "" "United States" "" "0" "" "" "(white)" "OGI-011-033" "00360688" "" "" "" "1" "" "04036" "{PMID:Sun 2015:26747767}" "index case" "F" "" "China" "" "0" "" "" "Asia" "HM364" "00360689" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_1" "00360690" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_2" "00360691" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_3" "00360692" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_4" "00360693" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_5" "00360694" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_6" "00360695" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_7" "00360696" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_8" "00360697" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_9" "00360698" "" "" "" "1" "" "04036" "{PMID:Bareil 2000:10862101}" "index case not indicated, family_1_patient_1 till family_1_patient_10 belong to same family" "" "no" "France" "" "0" "" "" "white" "Family_1_patient_10" "00360699" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, mother of PHRC156_II:3" "F" "no" "France" "" "0" "" "" "white" "PHRC156_I:2" "00360700" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Daughter of index case" "F" "no" "France" "" "0" "" "" "white" "PHRC156_II:3" "00360701" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, brother of PHRC233_II:3, father of PHRC233_III:2" "M" "no" "France" "" "0" "" "" "white" "PHRC233_II:2" "00360702" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Brother of index case, uncle of PHRC233_III:2" "M" "no" "France" "" "0" "" "" "white" "PHRC233_II:3" "00360703" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son of index case, cousin of PHRC233_II:3" "M" "no" "France" "" "0" "" "" "white" "PHRC233_III:2" "00360704" "" "" "" "1" "" "04036" "{PMID:Van Cauwenbergh 2017:28076437}" "index case" "" "" "Belgium" "" "0" "" "" "white" "FAM_041" "00360705" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "20" "00360706" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family_1" "00360707" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "149" "00360708" "" "" "" "1" "" "04036" "{PMID:Bayés 1996:9007328}" "index case" "" "yes" "Spain" "" "0" "" "" "white" "Family_M9" "00360709" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8540854}" "index case, father Family_2_III:2" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_2_II:2" "00360710" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8540854}" "Son index case" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_2_III:2" "00360711" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "Father of inex case and Family_6935_III:6" "M" "no" "United States" "" "0" "" "" "" "Family_6935_II:3;III:9" "00360712" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Brother index case, son of Family_6935_II:3" "M" "no" "United States" "" "0" "" "" "" "Family_6935_III:6" "00360713" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "index case, brother of Family_6935_III:6, son of Family_6935_II:3" "M" "no" "United States" "" "0" "" "" "" "Family_6935_III:7;AD8=IV:13" "00360714" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "index case" "" "" "United States" "" "0" "" "" "" "AD8" "00360715" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "Father of Family_6285_IV:25, grandfather of Family_6285_V_12, uncle of index case, Family_6285_IV:15, and Family_6285_IV:21" "M" "no" "United States" "" "0" "" "" "" "Family_6285_III:15" "00360716" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "Sister index case and Family_6285_IV:21, niece of Family_6285_IV:25, great-aunt of Family_6285_V_12, niece of Family_6285_III:15" "F" "no" "United States" "" "0" "" "" "" "Family_6285_IV:15" "00360717" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "index case, sister of Family_6285_IV:15 and Family_6285_IV:21, niece of Family_6285_IV:25, great aunt of Family_6285_V:12, niece of Family_6285_III:15" "F" "no" "United States" "" "0" "" "" "" "Family_6285_IV:19" "00360718" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "Brother index case and Family_6285_IV:25, cousin of Family_6285_IV:25, great-uncle of Family_6285_V_12, cousin of Family_6285_III:15" "M" "no" "United States" "" "0" "" "" "" "Family_6285_IV:21" "00360719" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "Niece index case, Family_6285_IV:15, and Family_6285_IV:21, mother of Family_6285_V_12, daughter of Family_6285_III:15" "F" "no" "United States" "" "0" "" "" "" "Family_6285_IV:25" "00360720" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "Great cousin of index case, Family_6285_IV:15, and Family_6285_IV:21, son of Family_6285_IV:25, grandson Family_6285_III:15" "M" "no" "United States" "" "0" "" "" "" "Family_6285_V_12" "00360721" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "index case, brother of Family_5509_II:6" "M" "no" "United States" "" "0" "" "" "" "Family_5509_II:1" "00360722" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1994:8202715}" "Sister index case" "F" "no" "United States" "" "0" "" "" "" "Family_5509_II:6" "00360723" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Father of index case and Family_0782_II:6, grandfathter of Family_0782_III:1" "M" "no" "United States" "" "0" "" "" "" "Family_0782_I:2" "00360724" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case, son of Family_0782_I:2, brother of Family_0782_II:6, uncle of Family_0782_III:1" "M" "no" "United States" "" "0" "" "" "" "Family_0782_II:5" "00360725" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Brother of index case, son of Family_0782_I:2, father of Family_0782_III:1" "M" "no" "United States" "" "0" "" "" "" "Family_0782_II:6" "00360726" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Niece index case, daughter of Family_0782_II:6, granddaughter of Family_0782_I:2" "F" "no" "United States" "" "0" "" "" "" "Family_0782_III:1" "00360727" "" "" "" "1" "" "04036" "{PMID:Wang 2013:23847139}" "index case" "F" "no" "United States" "" "0" "" "" "" "3256" "00360728" "" "" "" "1" "" "04036" "{PMID:Wang 2013:23847139}" "index case" "F" "no" "United States" "" "0" "" "" "" "741" "00360729" "" "" "" "1" "" "04036" "{PMID:Wang 2013:23847139}" "Father index case" "M" "no" "United States" "" "0" "" "" "" "Father of 741" "00360730" "" "" "" "1" "" "04036" "{PMID:Wang 2013:23847139}" "Mother index case" "F" "no" "United States" "" "0" "" "" "" "Mother of 741" "00360731" "" "" "" "1" "" "04036" "{PMID:Coussa 2015:26720483}" "index case, suspected familial (autosomal dominant)" "" "" "Canada" "" "0" "" "" "" "Case1" "00360732" "" "" "" "1" "" "04036" "{PMID:Coussa 2015:26720483}" "index case, suspected familial (autosomal dominant)" "" "" "Canada" "" "0" "" "" "" "Case2" "00360733" "" "" "" "1" "" "04036" "{PMID:Coussa 2015:26720483}" "index case, suspected familial (autosomal dominant)" "" "" "Canada" "" "0" "" "" "" "Case3" "00360734" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "144" "00360735" "" "" "" "5" "" "04036" "{PMID:Almoguera 2015:26197217}" "Mother index case, grandmother RP-0107_V:3/V:4, niece RP-0107_III:6" "F" "no" "Spain" "" "0" "" "" "white" "RP-0107_III:2" "00360736" "" "" "00360735" "1" "" "04036" "{PMID:Almoguera 2015:26197217}" "First niece index case, niece RP-0107_III:2, ascendant aunt RP-0107_V:3/V:4" "F" "no" "Spain" "" "0" "" "" "white" "RP-0107_III:6" "00360737" "" "" "00360735" "1" "" "04036" "{PMID:Almoguera 2015:26197217}" "index case, father of RP-0107_V:3/V:4, son RP-0107_III:2, great-cousin RP-0107_III:6" "M" "no" "Spain" "" "0" "" "" "white" "RP-0107_IV:3" "00360738" "" "" "00360735" "1" "" "04036" "{PMID:Almoguera 2015:26197217}" "Daughter index case, sister RP-0107_V:4, granddaughter RP-0107_III:2, ascendant niece RP-0107_III:6" "F" "no" "Spain" "" "0" "" "" "white" "RP-0107_V:3" "00360739" "" "" "00360735" "1" "" "04036" "{PMID:Almoguera 2015:26197217}" "Daughter index case, sister RP-0107_V:3, granddaughter RP-0107_III:2, ascendant cousin RP-0107_III:6" "F" "no" "Spain" "" "0" "" "" "white" "RP-0107_V:4" "00360740" "" "" "" "1" "" "04036" "{PMID:Kohl 2012:22183351}" "index case" "" "" "Germany" "" "0" "" "" "white" "Unknown" "00360741" "" "" "" "1" "" "04036" "{PMID:Khoubian 2005:16340530}" "index case, mother of III:2/III:3/III:5/III:6" "F" "no" "United States" "" "0" "" "" "white" "II:2" "00360742" "" "" "" "1" "" "04036" "{PMID:Khoubian 2005:16340530}" "Daughter index case, sister of III:3/III:5/III:6" "F" "no" "United States" "" "0" "" "" "white" "III:2" "00360743" "" "" "" "1" "" "04036" "{PMID:Khoubian 2005:16340530}" "Daughter index case, sister of III:2/III:5/III:6" "F" "no" "United States" "" "0" "" "" "white" "III:3" "00360744" "" "" "" "1" "" "04036" "{PMID:Khoubian 2005:16340530}" "Daughter index case, sister of III:2/III:3/III:6" "F" "no" "United States" "" "0" "" "" "white" "III:5" "00360745" "" "" "" "1" "" "04036" "{PMID:Khoubian 2005:16340530}" "Daughter index case, sister of III:2/III:3/III:5" "F" "no" "United States" "" "0" "" "" "white" "III:6" "00360746" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Germany" "" "0" "" "" "white" "Patient 82 (15204)" "00360747" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case, father Family_G_III:2" "M" "no" "Netherlands" "" "0" "" "" "white" "Patient 83 (Family_G_II:3)" "00360748" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Daughter index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Patient 83.1 (Family_G_III:2)" "00360749" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 84 (ST0871)" "00360750" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 85" "00360751" "" "" "" "1" "" "04036" "{PMID:Duncker 2015:26024099}" "index case" "F" "" "United States" "" "0" "" "" "white" "Patient 8" "00360752" "" "" "" "2" "" "04036" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected sisters, index case" "F" "no" "Spain" "" "0" "" "" "white" "RP-1176_III:3" "00360753" "" "" "00360752" "1" "" "04036" "{PMID:Fernandez-San Jose 2015:25698705}" "index case, sister of RP-1176_III:3" "F" "no" "Spain" "" "0" "" "" "white" "RP-1176_III:6" "00360754" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family 1" "00360755" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family_2" "00360756" "" "" "" "1" "" "04036" "{PMID:Wolock 2019:30926958}" "index case" "" "" "United States" "" "0" "" "" "" "4369" "00360757" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "115" "00360758" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 86" "00360759" "" "" "" "1" "" "04036" "{PMID:Cheng 2019:30892800}" "index case" "M" "no" "China" "" "0" "" "" "Asia" "M074_II:1" "00360760" "" "" "" "1" "" "04036" "{PMID:Duncker 2015:26024099}" "index case, father of patient 35" "M" "no" "United States" "" "0" "" "" "white" "Patient 34" "00360761" "" "" "" "1" "" "04036" "{PMID:Duncker 2015:26024099}" "Son of index case" "M" "no" "United States" "" "0" "" "" "white" "Patient 35" "00360762" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "index case not indicated, father of Family_3_III:1 (patient 9)" "M" "no" "United States" "" "0" "" "" "" "Family_3_II:1 (patient 8)" "00360763" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8675410}" "Daughter of Family_3_II:1 (patient 8)" "F" "no" "United States" "" "0" "" "" "" "Family_3_III:1 (patient 9)" "00360764" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "F" "no" "France" "" "0" "" "" "white" "PHRC003_III:1" "00360765" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 87 (OPH1200)" "00360766" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Germany" "" "0" "" "" "white" "Patient 88 (20587)" "00360767" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 89 (#N/B)" "00360768" "" "" "" "1" "" "04036" "{PMID:Alpati 2014:25082885}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 8" "00360769" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "37" "00360770" "" "" "" "1" "" "04036" "{PMID:Kohl 2012:22183351}" "index case" "" "" "Germany" "" "0" "" "" "white" "Unknown" "00360771" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Australia" "" "0" "" "" "white" "Patient 92 (IRD2166)" "00360772" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 91" "00360773" "" "" "" "1" "" "04036" "{PMID:Alpati 2014:25082885}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 18" "00360774" "" "" "" "1" "" "04036" "{PMID:Palma 2019:30726412}" "index case, sister patient 3.1" "F" "" "Brazil" "" "0" "" "" "Afro-American" "Patient 3" "00360775" "" "" "" "1" "" "04036" "{PMID:Palma 2019:30726412}" "Sister index case" "F" "" "Brazil" "" "0" "" "" "Afro-American" "Patient 3.1" "00360776" "" "" "" "1" "" "04036" "{PMID:Wolock 2019:30926958}" "index case" "" "" "United States" "" "0" "" "" "" "3239" "00360777" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "38" "00360778" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Argentina" "" "0" "" "" "white" "Patient 90 (STG 28)" "00360779" "" "" "" "1" "" "04036" "{PMID:Yanagihashi 2003:14557183}" "index case, brother of case 2 and 3" "M" "no" "Japan" "" "0" "" "" "Asia" "Case 1" "00360780" "" "" "" "1" "" "04036" "{PMID:Yanagihashi 2003:14557183}" "Cousin index case and half brother of case 3" "M" "no" "Japan" "" "0" "" "" "Asia" "Case 2" "00360781" "" "" "" "1" "" "04036" "{PMID:Yanagihashi 2003:14557183}" "Cousin index case and half brother of case 2" "M" "no" "Japan" "" "0" "" "" "Asia" "Case 3" "00360782" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated. Sister of III:2/III:3/III:5/III:6, aunt of IV:3/IV:4/IV:6/IV:7" "F" "no" "Germany" "" "0" "" "" "white" "III:1" "00360783" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated. Sister of III:1/III:3/III:5/III:6, aunt of IV:3/IV:4/IV:6/IV:7" "F" "no" "Germany" "" "0" "" "" "white" "III:2" "00360784" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated. Sister of III:1/III:2/III:5/III:6, aunt of IV:3/IV:4/IV:6/IV:7" "F" "no" "Germany" "" "0" "" "" "white" "III:3" "00360785" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated, brother of III:1/III:2/III:3/III:6, father of IV:3, uncle of IV:4/IV:6/IV:7" "M" "no" "Germany" "" "0" "" "" "white" "III:5" "00360786" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated, brother of III:1/III:2/III:3/III:5, father of IV:4/IV:6/IV:7, uncle of IV:3" "M" "no" "Germany" "" "0" "" "" "white" "III:6" "00360787" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated, son of III:5, cousin of III:1/III:2/III:3/III:6/IV:4/IV:6/IV:7" "M" "no" "Germany" "" "0" "" "" "white" "IV:3" "00360788" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated, daughter of III:6, niece of III:1/III:2/III:3/III:5/IV:3, sister of IV:6/IV:7" "F" "no" "Germany" "" "0" "" "" "white" "IV:4" "00360789" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated, son of III:6, cousin of III:1/III:2/III:3/III:5/IV:3, brother of IV:4/IV:7" "M" "no" "Germany" "" "0" "" "" "white" "IV:6" "00360790" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:16832026}" "index case not indicated, daughter of III:6, niece of III:1/III:2/III:3/III:5/IV:3, sister of IV:4/IV:6" "F" "no" "Germany" "" "0" "" "" "white" "IV:7" "00360791" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Macula: Yellow deposits and destructuration of RPE. ERG: not performed." "M" "no" "Spain" "" "0" "" "" "white" "DM-48_ III:2" "00360792" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "index case not indicated, brother of FII_II:6" "M" "no" "Spain" "" "0" "" "" "white" "FII _ II:4" "00360793" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "index case not indicated, brother of FII_II:4" "M" "no" "Spain" "" "0" "" "" "white" "FII _ II:6" "00360794" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "index case not indicated, mother of FIII_IV:2" "F" "no" "Spain" "" "0" "" "" "white" "FIII _ III:2" "00360795" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "index case not indicated, daughter of FIII_III:2" "F" "no" "Spain" "" "0" "" "" "white" "FIII _ IV:2" "00360796" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "" "M" "no" "Spain" "" "0" "" "" "white" "FIII(?)_sporadic" "00360797" "" "" "" "1" "" "04036" "{PMID:de Sousa 2015:26321861}" "index case" "" "" "Spain" "" "0" "" "" "white" "RP208" "00360798" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family 1" "00360799" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case not indicated. Cousin of F5a-III-7/III-8/III-10" "M" "no" "Spain" "" "0" "" "" "white" "F5a-III-2" "00360800" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Cousin of F5a-III-2/III-8/III-10" "M" "no" "Spain" "" "0" "" "" "white" "F5a-III-7" "00360801" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Cousin of F5a-III-2/III-7/III-10" "M" "no" "Spain" "" "0" "" "" "white" "F5a-III-8" "00360802" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Cousin of F5a-III-2/III-7/III-8" "M" "no" "Spain" "" "0" "" "" "white" "F5a-III-10" "00360803" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Mother of F5b-IV-4 Aunt of F5b-IV-1/IV-2." "F" "no" "Spain" "" "0" "" "" "white" "F5b-III-4" "00360804" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Brother of F5b-IV-2. Cousin of F5b-III-4-IV-1/IV-4." "M" "no" "Spain" "" "0" "" "" "white" "F5b-IV-1" "00360805" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Sister of F5b-IV-1 Niece of F5b-III-4-IV-1/IV-4." "F" "no" "Spain" "" "0" "" "" "white" "F5b-IV-2" "00360806" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Son of F5b-IV-4. Cousin of F5b-III-4-IV-1/IV-2." "M" "no" "Spain" "" "0" "" "" "white" "F5b-IV-4" "00360807" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Aunt of F5c-V-2. Great-niece of F5c-VI-2" "F" "no" "Spain" "" "0" "" "" "white" "F5c-IV-4" "00360808" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Niece of F5c-V-IV-4. Mother of F5c-VI-2" "F" "no" "Spain" "" "0" "" "" "white" "F5c-V-2" "00360809" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case not indicated. Great-niece of F5c-V-IV-4. Daughter of F5c-VI-2" "F" "no" "Spain" "" "0" "" "" "white" "F5c-VI-2" "00360810" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case" "M" "no" "Spain" "" "0" "" "" "white" "F5d-VI-1" "00360811" "" "" "" "1" "" "04036" "{PMID:Avela 2019:31087526}" "index case" "" "" "Finland" "" "0" "" "" "white" "Case 27" "00360812" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "140" "00360813" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "77" "00360814" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated, brother of Family_Ja_III:7, uncle of Family_Ja_IV:6/IV:7" "M" "no" "Germany" "" "0" "" "" "white" "Family_Ja_III:3" "00360815" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated, brother of Family_Ja_III:3, father of Family_Ja_IV:6/IV:7" "M" "no" "Germany" "" "0" "" "" "white" "Family_Ja_III:7" "00360816" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated, brother of Family_Ja_IV:7, son of Family_Ja_III:7, cousin of Family_Ja_III:3" "M" "no" "Germany" "" "0" "" "" "white" "Family_Ja_IV:6" "00360817" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated, sister of Family_Ja_IV:6, daughter of Family_Ja_III:7, niece of Family_Ja_III:3" "F" "no" "Germany" "" "0" "" "" "white" "Family_Ja_IV:7" "00360818" "" "" "00360819" "1" "" "04036" "{PMID:Oishi 2016:26957898}" "sister index case" "F" "no" "Japan" "" "0" "" "" "Asia" "K2022PatIII1" "00360819" "" "" "" "5" "" "04036" "{PMID:Oishi 2016:26957898}" "4-generation family, 5 affected (2F, 3M), index case, sister K2022_III:1" "F" "no" "Japan" "" "0" "" "" "Asia" "K2022PatIII4" "00360820" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "M" "no" "France" "" "0" "" "" "white" "PHRC204_I:1" "00360821" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Grand mother index case and PHRC160_III:2, mother PHRC160_II:2" "F" "no" "France" "" "0" "" "" "white" "PHRC160_I:1" "00360822" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Father index case and PHRC160_III:2, son of PHRC160_I:1" "M" "no" "France" "" "0" "" "" "white" "PHRC160_II:2" "00360823" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, granddaughter PHRC160_I:1, daughter of PHRC160_II:2, sister of PHRC160_III:2" "F" "no" "France" "" "0" "" "" "white" "PHRC160_III:1" "00360824" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Grandson PHRC160_I:1, son of PHRC160_II:2, brother of index case" "M" "no" "France" "" "0" "" "" "white" "PHRC160_III:2" "00360825" "" "" "" "1" "" "04036" "{PMID:Kitiratschky 2011:21405999}, {PMID:Kohl 2012:22183351}" "index case" "" "" "Germany" "" "0" "" "" "white" "Unknown" "00360826" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "78" "00360827" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_1_II:2" "00360828" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "F" "no" "Japan" "" "0" "" "" "Asia" "Family_1_II:3" "00360829" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_1_III:2" "00360830" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_1_III:3" "00360831" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_1_III:4" "00360832" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "F" "no" "Japan" "" "0" "" "" "Asia" "Family_1_IV:2" "00360833" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "F" "no" "Japan" "" "0" "" "" "Asia" "Family_1_IV:3" "00360834" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_1_IV:4" "00360835" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_1_IV:7" "00360836" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8912967}" "Brother Family_1_II:2 - Family_1_IV:8 belong to same family" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_1_IV:8" "00360837" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Fam_H_I:2" "00360838" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Son index case" "M" "no" "Netherlands" "" "0" "" "" "white" "Fam_H_II:1" "00360839" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Daughter index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Fam_H_II:2" "00360840" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown1" "00360841" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown2" "00360842" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown3" "00360843" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown4" "00360844" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown5" "00360845" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown6" "00360846" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown7" "00360847" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown8" "00360848" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown9" "00360849" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown10" "00360850" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown11" "00360851" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown12" "00360852" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown13" "00360853" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown14" "00360854" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown15" "00360855" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown16" "00360856" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown1-Unknown17 belong to the same family" "" "no" "Spain" "" "0" "" "" "white" "Unknown17" "00360857" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "" "no" "Spain" "" "0" "" "" "white" "DM-2" "00360858" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "31" "00360859" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "39" "00360860" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "44" "00360861" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "47" "00360862" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "79" "00360863" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 93" "00360864" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "30" "00360865" "" "" "" "1" "" "04036" "{PMID:Kalyanasundaram 2009:18356930}" "index case, son of Case_2" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Case_1" "00360866" "" "" "" "1" "" "04036" "{PMID:Kalyanasundaram 2009:18356930}" "Mother index case" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Case_2" "00360867" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "120" "00360868" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated. Sister Family_K/H_IV:3" "F" "no" "Germany" "" "0" "" "" "white" "Family_K/H_IV:2" "00360869" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated. Brother Family_K/H_IV:2" "M" "no" "Germany" "" "0" "" "" "white" "Family_K/H_IV:3" "00360870" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "France" "" "0" "" "" "white" "Patient 94 (OPH1543)" "00360871" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 95" "00360872" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 96" "00360873" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 97 (MARS_502000308)" "00360874" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated. Mother Family_Bu_III:1" "F" "no" "Germany" "" "0" "" "" "white" "Family_Bu_II:2" "00360875" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated. Son Family_Bu_II:1" "M" "no" "Germany" "" "0" "" "" "white" "Family_Bu_III:1" "00360876" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown 1 - unknown 4 belong to the same family" "" "" "Spain" "" "0" "" "" "white" "Unknown 1" "00360877" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown 1 - unknown 4 belong to the same family" "" "" "Spain" "" "0" "" "" "white" "Unknown 2" "00360878" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown 1 - unknown 4 belong to the same family" "" "" "Spain" "" "0" "" "" "white" "Unknown 3" "00360879" "" "" "" "1" "" "04036" "{PMID:Trujillo 1998:10627133}" "Unknown 1 - unknown 4 belong to the same family" "" "" "Spain" "" "0" "" "" "white" "Unknown 4" "00360880" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "" "" "Spain" "" "0" "" "" "white" "B-263" "00360881" "" "" "" "1" "" "04036" "{PMID:Duncan 2011:21071739}" "index case" "" "" "United States" "" "0" "" "" "" "Patient 3" "00360882" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "F" "no" "France" "" "0" "" "" "white" "PHRC301_II:1" "00360883" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family_1" "00360884" "" "" "" "1" "" "04036" "{PMID:Palma 2019:30726412}" "index case" "M" "" "Brazil" "" "0" "" "" "Afro-American" "Patient 1" "00360885" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "42" "00360886" "" "" "" "1" "" "04036" "{PMID:Coco 2010:20213611}" "index case" "M" "" "Spain" "" "0" "" "" "white" "Sporadic_3" "00360887" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2019:30902645}" "index case" "" "" "Spain" "" "0" "" "" "white" "MD-0391" "00360888" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "France" "" "0" "" "" "white" "Patient 98 (ST0131)" "00360889" "" "" "" "1" "" "04036" "{PMID:Kemp 1994:8045710}" "index case, mother of RP2" "F" "no" "United States" "" "0" "" "" "(white)" "RP1" "00360890" "" "" "" "1" "" "04036" "{PMID:Kemp 1994:8045710}" "Son of index case" "M" "no" "United States" "" "0" "" "" "(white)" "RP2" "00360891" "" "" "" "1" "" "04036" "{PMID:Feist 1994:7519821}" "index case" "M" "" "United States" "" "0" "" "" "white" "Case 1" "00360892" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "F" "no" "United States" "" "0" "" "" "white" "Family_1_III:2" "00360893" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_III:5" "00360894" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_III:8" "00360895" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "F" "no" "United States" "" "0" "" "" "white" "Family_1_III:10" "00360896" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_III:12" "00360897" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "F" "no" "United States" "" "0" "" "" "white" "Family_1_IV:3" "00360898" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_IV:15" "00360899" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "index case" "F" "no" "United States" "" "0" "" "" "white" "Family_1_IV:19" "00360900" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "F" "no" "United States" "" "0" "" "" "white" "Family_1_IV:20" "00360901" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "F" "no" "United States" "" "0" "" "" "white" "Family_1_IV:22" "00360902" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_IV:23" "00360903" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_IV:24" "00360904" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_IV:27" "00360905" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_V:3" "00360906" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "F" "no" "United States" "" "0" "" "" "white" "Family_1_V:4" "00360907" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "M" "no" "United States" "" "0" "" "" "white" "Family_1_V:5" "00360908" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_1_III:2 - Family_1_V:10 belong to same family" "F" "no" "United States" "" "0" "" "" "white" "Family_1_V:10" "00360909" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_2_Case1 - Family_2_Case3 belong to the same family" "F" "no" "United States" "" "0" "" "" "white" "Family_2_Case1" "00360910" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_2_Case1 - Family_2_Case3 belong to the same family" "F" "no" "United States" "" "0" "" "" "white" "Family_2_Case2" "00360911" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Family_2_Case1 - Family_2_Case3 belong to the same family" "F" "no" "United States" "" "0" "" "" "white" "Family_2_Case3" "00360912" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "index case, mother of Family_3_Case2" "F" "no" "United States" "" "0" "" "" "white" "Family_3_Case1" "00360913" "" "" "" "1" "" "04036" "{PMID:Gorin 1995:7862413}" "Son of index case" "M" "no" "United States" "" "0" "" "" "white" "Family_3_Case2" "00360914" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "Sister index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Fam_J_II:4" "00360915" "" "" "" "1" "" "04036" "{PMID:Boon 2007:17504850}" "index case, sister Fam_J_II:4" "F" "no" "Netherlands" "" "0" "" "" "white" "Fam_J_II:7" "00360916" "" "" "" "1" "" "04036" "{PMID:Duncan 2011:21071739}" "index case" "" "" "United States" "" "0" "" "" "" "Patient 4" "00360917" "" "" "" "1" "" "04036" "{PMID:Strom 2012:22863181}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown" "00360918" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 9" "00360919" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "29" "00360920" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "40" "00360921" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "80" "00360922" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "81" "00360923" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "82" "00360924" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "122" "00360925" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "141" "00360926" "" "" "" "1" "" "04036" "{PMID:Budu 2001:11485765}" "index case" "F" "" "Japan" "" "0" "" "" "Asia" "Patient II:5" "00360927" "" "" "" "1" "" "04036" "{PMID:Consugar 2015:25412400}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "OGI-286-615" "00360928" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Sister index case" "F" "no" "France" "" "0" "" "" "white" "PHRC243_II:1" "00360929" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "M" "no" "France" "" "0" "" "" "white" "PHRC243_II:3" "00360930" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "F" "no" "France" "" "0" "" "" "white" "FAM451_II:2" "00360931" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "49" "00360932" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 99" "00360933" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "index case, father of II:1/II:3/II:4/II:5/II:6/II:7, grandfather of III:1/III:2" "M" "no" "Sweden" "" "0" "" "" "white" "I:1" "00360934" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "Son of index case, brother of II:3/II:4/II:5/II:6/II:7. uncle of III:1/III:2" "M" "no" "Sweden" "" "0" "" "" "white" "II:1" "00360935" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "Son of index case, brother of II:2/II:4/II:5/II:6/II:7, father of III:1, uncle of III:2" "M" "no" "Sweden" "" "0" "" "" "white" "II:3" "00360936" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "Daughter of index case, sister of II:2/II:3/II:5/II:6/II:7, mother of III:2, aunt of III:1" "F" "no" "Sweden" "" "0" "" "" "white" "II:4" "00360937" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "Son of index case, brother of II:2/II:3/II:4/II:6/II:7. uncle of III:1/III:2" "M" "no" "Sweden" "" "0" "" "" "white" "II:5" "00360938" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "Son of index case, brother of II:2/II:3/II:4/II:5/II:7. uncle of III:1/III:2" "M" "no" "Sweden" "" "0" "" "" "white" "II:6" "00360939" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "Son of index case, brother of II:2/II:3/II:4/II:5/II:6. uncle of III:1/III:2" "M" "no" "Sweden" "" "0" "" "" "white" "II:7" "00360940" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "Grandson index case, son II:3, cousin II:1/II:4/II:5/II:6/II:7/III:2" "M" "no" "Sweden" "" "0" "" "" "white" "III:1" "00360941" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:9587927}" "Grandson index case, son II:4, cousin II:1/II:3/II:5/II:6/II:7/III:2" "M" "no" "Sweden" "" "0" "" "" "white" "III:2" "00360942" "" "" "" "1" "" "04036" "{PMID:Souied 1998:9673478}" "Brother index case" "M" "no" "France" "" "0" "" "" "white" "Family_1_II:1" "00360943" "" "" "" "1" "" "04036" "{PMID:Souied 1998:9673478}" "index case, brother of family_2_II:1" "M" "no" "France" "" "0" "" "" "white" "Family_1_II:2" "00360944" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:10193525}" "index case" "" "no" "Sweden" "" "0" "" "" "white" "RP6" "00360945" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:10193525}" "index case" "" "no" "Sweden" "" "0" "" "" "white" "RP37" "00360946" "" "" "" "1" "" "04036" "{PMID:Farrar 1992:8449524}" "index case" "" "no" "Ireland" "" "0" "" "" "white" "TCDG pedigree" "00360947" "" "" "" "1" "" "04036" "{PMID:Passerini 2007:18050133}" "Mother index case" "F" "no" "Italy" "" "0" "" "" "white" "III:4" "00360948" "" "" "" "1" "" "04036" "{PMID:Passerini 2007:18050133}" "index case, daughter of III:4" "F" "no" "Italy" "" "0" "" "" "white" "IV:1" "00360949" "" "" "" "1" "" "04036" "{PMID:Sullivan 2013:23950152}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown5" "00360950" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family_1" "00360951" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family_2" "00360952" "" "" "" "1" "" "04036" "{PMID:Foote 2019:30924848}" "index case" "" "" "United States" "" "0" "" "" "" "30015" "00360953" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "" "83" "00360954" "" "" "" "1" "" "04036" "{PMID:Felbor 1997:9338584}" "index case" "" "" "Germany" "" "0" "" "" "white" "785" "00360955" "" "" "" "1" "" "04036" "{PMID:Felbor 1997:9338584}" "index case" "F" "no" "Germany" "" "0" "" "" "white" "5074" "00360956" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 10" "00360957" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "41" "00360958" "" "" "" "1" "" "04036" "{PMID:Payne 1998:9443872}" "index case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family 14" "00360959" "" "" "" "1" "" "04036" "{PMID:Wang 2013:23847139}" "index case, daughter of Father 1318 and Mother 1318, mother of Son 1318." "F" "no" "United States" "" "0" "" "" "" "1318" "00360960" "" "" "" "1" "" "04036" "{PMID:Wang 2013:23847139}" "Father index case, grandfather Son 1318, husband Mother 1318" "M" "no" "United States" "" "0" "" "" "" "Father 1318" "00360961" "" "" "" "1" "" "04036" "{PMID:Wang 2013:23847139}" "Mother index case, grandmother Son 1318, wife Father 1318" "F" "no" "United States" "" "0" "" "" "" "Mother 1318" "00360962" "" "" "" "1" "" "04036" "{PMID:Wang 2013:23847139}" "Son index case, grandson of Father 1318 and Mother 1318" "M" "no" "United States" "" "0" "" "" "" "Son 1318" "00360963" "" "" "" "1" "" "04036" "{PMID:Duncker 2015:26024099}" "index case" "F" "no" "United States" "" "0" "" "" "white" "Patient 4" "00360964" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "85" "00360965" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Uncle index case/DM-136_ II:3/II:4, brother DM-136_ I:3, father DM-136_ II:1" "M" "no" "Spain" "" "0" "" "" "white" "DM-136_ I:1" "00360966" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Mother index case, DM-136_II:3/II:4, sister DM-136_I:1, aunt DM-136_II:1" "F" "no" "Spain" "" "0" "" "" "white" "DM-136_ I:3" "00360967" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Daughter DM-136_I:1, niece of index case/DM-136_II:3/II:4/I:3" "F" "no" "Spain" "" "0" "" "" "white" "DM-136_ II:1" "00360968" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Son DM-136_I:3, brother of index case/DM-136_II:4, cousin DM-136_II:1/I:1" "M" "no" "Spain" "" "0" "" "" "white" "DM-136_ II:3" "00360969" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Son DM-136_I:3, brother of index case/DM-136_II:3, cousin DM-136_II:1/I:1" "M" "no" "Spain" "" "0" "" "" "white" "DM-136_ II:4" "00360970" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case, duaghter DM-136_I:3, sister DM-136_II:3/II:4, niece DM-136_II:1/I:1" "F" "no" "Spain" "" "0" "" "" "white" "DM-136_ II:5" "00360971" "" "" "" "1" "" "04036" "{PMID:Zhang 2002:11934323}" "Cousin III:18/III:19/III:20, first cousin (once removed) IV:7/IV:8/IV:10" "M" "no" "United States" "" "0" "" "" "white" "III:6" "00360972" "" "" "" "1" "" "04036" "{PMID:Zhang 2002:11934323}" "Mother IV:8/IV:10, sister III:19/III:20, aunt IV:7, niece III:6" "F" "no" "United States" "" "0" "" "" "white" "III:18" "00360973" "" "" "" "1" "" "04036" "{PMID:Zhang 2002:11934323}" "Sister III:18/III:20, aunt V:7/IV:8/IV:10, niece III:6" "F" "no" "United States" "" "0" "" "" "white" "III:19" "00360974" "" "" "" "1" "" "04036" "{PMID:Zhang 2002:11934323}" "Sister III:18/III:19, aunt V:7/IV:8/IV:10, niece III:6" "F" "no" "United States" "" "0" "" "" "white" "III:20" "00360975" "" "" "" "1" "" "04036" "{PMID:Zhang 2002:11934323}" "Niece IV:8/IV:10/III:18/III:19/III:20, first niece (once removed) III:6" "F" "no" "United States" "" "0" "" "" "white" "IV:7" "00360976" "" "" "" "1" "" "04036" "{PMID:Zhang 2002:11934323}" "Son III:18, brother of IV:10, cousin IV:7/III:19/III:20, first niece (once removed) III:6" "M" "no" "United States" "" "0" "" "" "white" "IV:8" "00360977" "" "" "" "1" "" "04036" "{PMID:Zhang 2002:11934323}" "Daughter III:18, sister of IV:8, cousin IV:7/III:19/III:20, first niece (once removed) III:6" "F" "no" "United States" "" "0" "" "" "white" "IV:10" "00360978" "" "" "" "1" "" "04036" "{PMID:Duncan 2011:21071739}" "index case" "" "" "United States" "" "0" "" "" "" "Patient 1" "00360979" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "46" "00360980" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "84" "00360981" "" "" "" "1" "" "04036" "{PMID:Lee 2020:32579694}" "index case, sister of patient B, mother of patient C" "F" "no" "United States" "" "0" "" "" "white" "Patient A" "00360982" "" "" "" "1" "" "04036" "{PMID:Lee 2020:32579694}" "Sister of index case, aunt of patient C" "F" "no" "United States" "" "0" "" "" "white" "Patient B" "00360983" "" "" "" "1" "" "04036" "{PMID:Lee 2020:32579694}" "Daughter of index case, niece of patient B" "F" "no" "United States" "" "0" "" "" "white" "Patient C" "00360984" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "86" "00360985" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "146" "00360986" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "" "" "Spain" "" "0" "" "" "white" "DM-13" "00360987" "" "" "" "1" "" "04036" "{PMID:de Sousa 2015:26321861}" "index case" "" "" "Spain" "" "0" "" "" "white" "Patient 3" "00360988" "" "" "" "1" "" "04036" "{PMID:Saga 1993:8244346}" "index case, sibling of Family_1_case2/case3" "" "no" "Japan" "" "0" "" "" "Asia" "Family_1_case1" "00360989" "" "" "" "1" "" "04036" "{PMID:Saga 1993:8244346}" "Sibling of index case,/Family_1_case3" "" "no" "Japan" "" "0" "" "" "Asia" "Family_1_case2" "00360990" "" "" "" "1" "" "04036" "{PMID:Saga 1993:8244346}" "Sibling of index case,/Family_1_case2" "" "no" "Japan" "" "0" "" "" "Asia" "Family_1_case3" "00360991" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "136" "00360992" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family 1" "00360993" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 100" "00360994" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 101" "00360995" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 102" "00360996" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 103" "00360997" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 104" "00360998" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Daughter index case 315384" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 104.1" "00360999" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 105" "00361000" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "Cousin index case, cousin (once removed) Family_1_IV:8 (case1.2)" "M" "no" "United States" "" "0" "" "" "Asia" "Family_1_III:11 (case1.3)" "00361001" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "index case, mother of Family_1_IV:8 (case1.2), niece of Family_1_III:11 (case1.3)" "F" "no" "United States" "" "0" "" "" "Asia" "Family_1_III:14 (case1.1)" "00361002" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "Son of index case, cousin (once removed) of Family_1_III:11 (case1.3)" "M" "no" "United States" "" "0" "" "" "Asia" "Family_1_IV:8 (case1.2)" "00361003" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "Cousin of index case/Family_2_III:3, father of Family_2_IV:2, cousin (once removed) of Family_2_IV:4 (case2.3)/Family_2_IV:5 (case2.2)" "M" "no" "United States" "" "0" "" "" "white" "Family_2_III:2" "00361004" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "Sister index case, niece of Family_2_III:2, aunt of Family_2_IV:4 (case2.3)/Family_2_IV:5 (case2.2), niece (once removed) Family_2_IV:2" "F" "no" "United States" "" "0" "" "" "white" "Family_2_III:3" "00361005" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "index case, brother of Family_2_III:3, father of Family_2_IV:4 (case2.3)/Family_2_IV:5 (case2.2), cousin of Family_2_III:2, cousin (once removed) of Family_2_IV:2" "M" "no" "United States" "" "0" "" "" "white" "Family_2_III:4 (case2.1)" "00361006" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "Niece (once removed) index case/Family_2_III:3, daughter of Family_2_III:2, second niece of of Family_2_IV:4 (case2.3)/Family_2_IV:5 (case2.2)" "F" "no" "United States" "" "0" "" "" "white" "Family_2_IV:2" "00361007" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "Son index case, brother of Family_2_IV:5 (case2.2), cousin of Family_2_III:3, cousin (once removed) of Family_2_III:2, secon cousin Family_2_IV:2" "M" "no" "United States" "" "0" "" "" "white" "Family_2_IV:4 (case2.3)" "00361008" "" "" "" "1" "" "04036" "{PMID:Fishman 1994:8058286}" "Son index case, brother of Family_2_IV:4 (case2.3), cousin of Family_2_III:3, cousin (once removed) of Family_2_III:2, secon cousin Family_2_IV:2" "M" "no" "United States" "" "0" "" "" "white" "Family_2_IV:5 (case2.2)" "00361009" "" "" "" "1" "" "04036" "{PMID:Richards 1995:7754251}" "Uncle index case, brother of II:7" "M" "no" "Wales" "" "0" "" "" "white" "II:6" "00361010" "" "" "" "1" "" "04036" "{PMID:Richards 1995:7754251}" "Father index case, brother of II:6" "M" "no" "Wales" "" "0" "" "" "white" "II:7" "00361011" "" "" "" "1" "" "04036" "{PMID:Richards 1995:7754251}" "index case, son of II:7. cousin of II:6" "M" "no" "Wales" "" "0" "" "" "white" "III:7" "00361012" "" "" "" "1" "" "04036" "{PMID:Bareil 1997:9361310}" "index case, mother E4.1 and E4.2" "F" "no" "France" "" "0" "" "" "white" "E4" "00361013" "" "" "" "1" "" "04036" "{PMID:Bareil 1997:9361310}" "Daughter index case, sister 4.2" "F" "no" "France" "" "0" "" "" "white" "E4.1" "00361014" "" "" "" "1" "" "04036" "{PMID:Bareil 1997:9361310}" "Daughter index case, sister 4.1" "F" "no" "France" "" "0" "" "" "white" "E4.2" "00361015" "" "" "" "1" "" "04036" "{PMID:Sullivan 2013:23950152}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown6" "00361016" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, mother of PHRC281_III:2/III:3/III:4" "F" "no" "France" "" "0" "" "" "white" "PHRC281_II:3" "00361017" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Daughter of index case, sister of PHRC281_III:3/III:4" "F" "no" "France" "" "0" "" "" "white" "PHRC281_III:2" "00361018" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Daughter of index case, sister of PHRC281_III:2/III:4" "F" "no" "France" "" "0" "" "" "white" "PHRC281_III:3" "00361019" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Daughter of index case, sister of PHRC281_III:2/III:3" "F" "no" "France" "" "0" "" "" "white" "PHRC281_III:4" "00361020" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, cousin PHRC305_III:5, father PHRC305_IV:1/IV:2, first cousin (once removed) PHRC305_IV:4/IV:6, first cousin (twice removed) PHRC305_V:1" "M" "no" "France" "" "0" "" "" "white" "PHRC305_III:2" "00361021" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Cousin index case, father PHRC305_IV:4/IV:6, grandfather PHRC305_V:1, first cousin (once removed) PHRC305_IV:1/IV:2" "M" "no" "France" "" "0" "" "" "white" "PHRC305_III:5" "00361022" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son index case, brother PHRC305_IV:2, first cousin (once removed) PHRC305_III:5, second cousin PHRC305_IV:4/IV:6, second cousin (once removed) PHRC305_V:1" "M" "no" "France" "" "0" "" "" "white" "PHRC305_IV:1" "00361023" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Daughter index case, sister PHRC305_IV:1, first niece (once removed) PHRC305_III:5, second niece PHRC305_IV:4/IV:6, second niece (once removed) PHRC305_V:1" "F" "no" "France" "" "0" "" "" "white" "PHRC305_IV:2" "00361024" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "First niece (once removed) index case, daughter PHRC305_III:5, sister PHRC305_IV:6, mother of PHRC305_V:1, second niece PHRC305_IV:1/IV:2" "F" "no" "France" "" "0" "" "" "white" "PHRC305_IV:4" "00361025" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "First niece (once removed) index case, daughter PHRC305_III:5, sister PHRC305_IV:4, aunt of PHRC305_V:1, second niece PHRC305_IV:1/IV:2" "F" "no" "France" "" "0" "" "" "white" "PHRC305_IV:6" "00361026" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "First cousin (twice removed) index case, son PHRC305_IV:4, grandson PHRC305_III:5, cousin PHRC305_IV:6, second cousin PHRC305_IV:1/IV:2" "M" "no" "France" "" "0" "" "" "white" "PHRC305_V:1" "00361027" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, brother FAM230_II:2" "M" "no" "France" "" "0" "" "" "white" "FAM230_II:1" "00361028" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Sister index case" "F" "no" "France" "" "0" "" "" "white" "FAM230_II:2" "00361029" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Brother index case" "M" "no" "France" "" "0" "" "" "white" "FAM541_II:1" "00361030" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, brother FAM541_II:1" "M" "no" "France" "" "0" "" "" "white" "FAM541_II:3" "00361031" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2018:29847639}" "index case. The authors don\'t show how many family members carry this variant, only mentioned it was present in one family they studied" "" "" "Spain" "" "0" "" "" "white" "Family_1" "00361032" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case, sister Family_7_III:4/III:6, aunt of Family_7_ IV:9, daughter of Family_7_ II:2, niece of Family_7_ II:7" "F" "no" "Spain" "" "0" "" "" "white" "Family_7_ III:1" "00361033" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "87" "00361034" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "F" "no" "Germany" "" "0" "" "" "white" "5158-F512_1" "00361035" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "Mother index case" "F" "no" "Germany" "" "0" "" "" "white" "5158-F512_2" "00361036" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "138" "00361037" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Uncle index case/Family_6948_III:5, brother Family_6948_II:4/II:6, familymember Family_6948_IV:1/IV:3/IV:5" "M" "no" "United States" "" "0" "" "" "" "Family_6948_II:2" "00361038" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Brother Family_6948_II:2/II:6, father Family_6948_III:5, uncle index case, grandfather Family_6948_IV:1/IV:3, familymember Family_6948_IV:5" "M" "no" "United States" "" "0" "" "" "" "Family_6948_II:4" "00361039" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Sister Family_6948_II:2/II:4, aunt of Family_6948_III:5/index case, familymember Family_6948_IV:1/IV:3/IV:5" "F" "no" "United States" "" "0" "" "" "" "Family_6948_II:6" "00361040" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Daughter of Family_6948_II:4, niece Family_6948_II:2/II:6/index case, mother Family_6948_IV:1/IV:3, first niece (once remove) Family_6948_IV:5" "F" "no" "United States" "" "0" "" "" "" "Family_6948_III:5" "00361041" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "index case, father Family_6948_IV:5, cousin Family_6948_II:2/II:4/II:6/III:5, first cousin (once removed) Family_6948_IV:1/IV:3" "M" "no" "United States" "" "0" "" "" "" "Family_6948_III:9 (AD32)" "00361042" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Daughter Family_6948_III:5, sister Family_6948_IV:3, second niece Family_6948_IV:5, granddaughter Family_6948_II:4, first niece (once removed) index case, family member Family_6948_II:2/II:6" "F" "no" "United States" "" "0" "" "" "" "Family_6948_IV:1" "00361043" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Daughter Family_6948_III:5, sister Family_6948_IV:1, second niece Family_6948_IV:5, granddaughter Family_6948_II:4, first niece (once removed) index case, family member Family_6948_II:2/II:6" "F" "no" "United States" "" "0" "" "" "" "Family_6948_IV:3" "00361044" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Son index case, second cousin Family_6948_IV:1/IV:3, first cousin (once removed) Family_6948_III:5, familymember Family_6948_II:2/II:4/II:6" "M" "no" "United States" "" "0" "" "" "" "Family_6948_IV:5" "00361045" "" "" "" "1" "" "04036" "{PMID:Yang 2000:11853584}" "index case, family member patient 2" "" "" "China" "" "0" "" "" "Asia" "Patient 1" "00361046" "" "" "" "1" "" "04036" "{PMID:Yang 2000:11853584}" "Family member index case" "" "" "China" "" "0" "" "" "Asia" "Patient 2" "00361047" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "F" "" "Germany" "" "0" "" "" "white" "729" "00361048" "" "" "" "1" "" "04036" "{PMID:Sullivan 2013:23950152}, {PMID:Sullivan 2006:16799052}" "index case" "" "" "United States" "" "0" "" "" "" "RFS184" "00361049" "" "" "" "1" "" "04036" "{PMID:Van Cauwenbergh 2017:28076437}" "index case" "" "" "Belgium" "" "0" "" "" "white" "FAM_042" "00361050" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "88" "00361051" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "89" "00361052" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "143" "00361053" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "156" "00361054" "" "" "" "1" "" "04036" "{PMID:Schorderet 2013:23484092}" "index case" "" "" "Switzerland" "" "0" "" "" "white" "Patient 19" "00361055" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "448" "00361056" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "34" "00361057" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 106" "00361058" "" "" "" "1" "" "04036" "{PMID:Payne 1998:9443872}" "index case not indicated, nor the number of affected family members that carry the variant" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family 20" "00361059" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Father Family_6459_III:1/III:2/III:5, grandfather Family_6459_IV:2/IV:3/IV:4" "M" "no" "United States" "" "0" "" "" "" "Family_6459_II:1" "00361060" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Son Family_6459_II:1, brother Family_6459_III:2/III:5, uncle Family_6459_IV:2/IV:3/IV:4" "M" "no" "United States" "" "0" "" "" "" "Family_6459_III:1" "00361061" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Son Family_6459_II:1, brother Family_6459_III:1/III:5, father Family_6459_IV:2, uncle Family_6459_IV:3/IV:4" "M" "no" "United States" "" "0" "" "" "" "Family_6459_III:2" "00361062" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "index case" "M" "no" "United States" "" "0" "" "" "" "Family_6459_III:5 (AD206)" "00361063" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Grandson Family_6459_II:1, son Family_6459_III:2, cousin Family_6459_III:1/III:5/IV:3/IV:4" "M" "no" "United States" "" "0" "" "" "" "Family_6459_IV:2" "00361064" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Granddaughter Family_6459_II:1, daughter Family_6459_III:5, sister Family_6459_IV:4, niece Family_6459_III:1/III:2/IV:2" "F" "no" "United States" "" "0" "" "" "" "Family_6459_IV:3" "00361065" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "Grandson Family_6459_II:1, son Family_6459_III:5, brother Family_6459_IV:3, cousin Family_6459_III:1/III:2/IV:2" "M" "no" "United States" "" "0" "" "" "" "Family_6459_IV:4" "00361066" "" "" "" "1" "" "04036" "{PMID:Kajiwara 1991:1684223}" "index case" "" "no" "United States" "" "0" "" "" "" "AD32" "00361067" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 107" "00361068" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 108" "00361069" "" "" "" "1" "" "04036" "{PMID:Payne 1998:9443872}" "index case not indicated, nor the number of affected family members that carry the variant" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family 13" "00361070" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "M" "no" "Spain" "" "0" "" "" "white" "B-197_ II:2 (proband)" "00361071" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Sister index case" "F" "no" "Spain" "" "0" "" "" "white" "B-197_ II:3" "00361072" "" "" "" "1" "" "04036" "{PMID:Leroy 2007:16916875}" "index case" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "FamilyB_II:1" "00361073" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "90" "00361074" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 109" "00361075" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 110" "00361076" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 111" "00361077" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown" "00361078" "" "" "" "1" "" "04036" "{PMID:Jacobson 1996:8994365}" "Family member index case" "" "" "United States" "" "0" "" "" "" "Unknown" "00361079" "" "" "" "1" "" "04036" "{PMID:Khan 2019:30822235}" "index case" "M" "yes" "United Arab Emirates" "" "0" "" "" "Arab" "Patient 1" "00361080" "" "" "" "1" "" "04036" "{PMID:Khan 2019:30822235}" "Father index case" "M" "yes" "United Arab Emirates" "" "0" "" "" "Arab" "Patient 2" "00361081" "" "" "" "1" "" "04036" "{PMID:Khan 2019:30822235}" "Mother index case" "F" "yes" "United Arab Emirates" "" "0" "" "" "Arab" "Patient 3" "00361082" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "43,1" "00361083" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case 43,1" "F" "" "United States" "" "0" "" "" "(white)" "43,2" "00361084" "" "" "" "1" "" "04036" "{PMID:Martin-Merida 2019:30902645}" "index case" "" "" "Spain" "" "0" "" "" "white" "RP-1569" "00361085" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "M" "" "Germany" "" "0" "" "" "white" "1068" "00361086" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "M" "no" "France" "" "0" "" "" "white" "FAM235 II:3" "00361087" "" "" "" "1" "" "04036" "{PMID:Ahmad 2010:25390130}" "index case" "M" "" "United States" "" "0" "" "" "white" "Patient 1" "00361088" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Poland" "" "0" "" "" "white" "Patient 112 (714)" "00361089" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "91" "00361090" "" "" "" "1" "" "04036" "{PMID:Payne 1998:9443872}" "index case not indicated, nor the number of affected family members that carry the variant" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family 18" "00361091" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "135" "00361092" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "204" "00361093" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 11" "00361094" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "35.1" "00361095" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "35.2" "00361096" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "35.3" "00361097" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "35.4" "00361098" "" "" "" "1" "" "04036" "{PMID:Payne 1998:9443872}" "index case not indicated, nor the number of affected family members that carry the variant" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family 15" "00361099" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Unknown" "00361100" "" "" "" "1" "" "04036" "{PMID:Strom 2012:22863181}" "index case" "" "" "United States" "" "0" "" "" "" "STGD-05" "00361101" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "no" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 12" "00361102" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "" "" "United States" "" "0" "" "" "(white)" "36" "00361103" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "" "" "United States" "" "0" "" "" "(white)" "92" "00361104" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "" "" "United States" "" "0" "" "" "(white)" "93" "00361105" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case, suspected familial (autosomal dominant)" "F" "no" "Spain" "" "0" "" "" "white" "B-271_ II:1" "00361106" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case" "M" "no" "Germany" "" "0" "" "" "white" "Family_Ba_II:1" "00361107" "" "" "" "1" "" "04036" "{PMID:Daftarian 2019:31618092}" "index case, daughter of fam_1_III:6 and fam_1_III:7, sister of fam_1_IV:2" "F" "yes" "Iran" "" "0" "" "" "Arab" "Fam1_IV-1" "00361108" "" "" "" "1" "" "04036" "{PMID:Daftarian 2019:31618092}" "Father index case and fam_1_IV-2, husband and first cousin fam_1_III:7" "M" "yes" "Iran" "" "0" "" "" "Arab" "Fam_1_III-6" "00361109" "" "" "" "1" "" "04036" "{PMID:Daftarian 2019:31618092}" "Mother index case and fam_1_IV-2, wife and first cousin of fam_1_III:6" "F" "yes" "Iran" "" "0" "" "" "Arab" "Fam_1_III-7" "00361110" "" "" "" "1" "" "04036" "{PMID:Daftarian 2019:31618092}" "Sister index case, daughter of fam_1_III:6 and fam_1_III:7" "F" "yes" "Iran" "" "0" "" "" "Arab" "Fam_1_IV:2" "00361111" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "32" "00361112" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "45,1" "00361113" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case" "F" "" "United States" "" "0" "" "" "(white)" "45,2" "00361114" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "48" "00361115" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "94" "00361116" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 113 (MARS-502000037)" "00361117" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "157" "00361118" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8540854}" "Brother index case" "M" "no" "Japan" "" "0" "" "" "Asia" "Family_1_II:3" "00361119" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1996:8540854}" "index case" "F" "no" "Japan" "" "0" "" "" "Asia" "Family_1_II:5" "00361120" "" "" "" "1" "" "04036" "{PMID:Hosono 2018:29844330}" "index case" "F" "yes" "Japan" "" "0" "" "" "Asia" "EYE156" "00361121" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7993211}" "index case, brother of II:6/II:9, father of III:2/III:3, uncle of III:4/III:6, grandfather of IV:1" "M" "no" "Japan" "" "0" "" "" "Asia" "II:5" "00361122" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7993211}" "Brother index case/II:9, father of III:4, uncleof III:2/III:3/III:6, great uncle IV:1" "M" "no" "Japan" "" "0" "" "" "Asia" "II:6" "00361123" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7993211}" "Sister index case/II:6, mother of III:6, aunt of III:2/III:3/III:4, great aunt IV:1" "F" "no" "Japan" "" "0" "" "" "Asia" "II:9" "00361124" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7993211}" "Daughter index case, sister of III:3, niece of III:4/III:6/II:6/II:9, mother of IV:1" "F" "no" "Japan" "" "0" "" "" "Asia" "III:2" "00361125" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7993211}" "Daughter index case, sister of III:2, niece of III:4/III:6/II:6/II:9, aunt of IV:1" "F" "no" "Japan" "" "0" "" "" "Asia" "III:3" "00361126" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7993211}" "Son of III:6, cousin of index case/II:9/III:2/III:3/III:6, first cousin (once removed) IV:1" "M" "no" "Japan" "" "0" "" "" "Asia" "III:4" "00361127" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7993211}" "Daughter of II:9, niece of index case/II:6/III:2/III:3/III:4, first niece (once removed) IV:1" "F" "no" "Japan" "" "0" "" "" "Asia" "III:6" "00361128" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7993211}" "Son of III:2, cousin of III:3, first couin (once removed) III:4/III:6, grandson of index case, grand cousin II:6/II:9" "M" "no" "Japan" "" "0" "" "" "Asia" "IV:1" "00361129" "" "" "" "1" "" "04036" "{PMID:Nakazawa 1993:7904791}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "Unknown" "00361130" "" "" "" "1" "" "04036" "{PMID Nakazawa 1994:7981698}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "Unknown" "00361131" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 114 (EUGENDA-407000561)" "00361132" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated. Brother of Family_Jo_II:5, uncle of Family_Jo_III:3/III:6" "M" "no" "Germany" "" "0" "" "" "white" "Family_Jo_II:1" "00361133" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated. Sister of Family_Jo_II:1, mother of Family_Jo_III:3/III:6" "F" "no" "Germany" "" "0" "" "" "white" "Family_Jo_II:5" "00361134" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated. Son of Family_Jo_II:5, cousin of II:5, brother of Family_Jo_III:6" "M" "no" "Germany" "" "0" "" "" "white" "Family_Jo_III:3" "00361135" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case not indicated. Daughter of Family_Jo_II:5, niece of II:5, sister of Family_Jo_III:3" "F" "no" "Germany" "" "0" "" "" "white" "Family_Jo_III:6" "00361136" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case not indicated. Brother of PHRC150_II:3, father of PHRC150_III:2, uncle of PHRC150_III:4, grandfather of PHRC150_IV:1" "M" "no" "France" "" "0" "" "" "white" "PHRC150_II:2" "00361137" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case not indicated. Brother of PHRC150_II:2, father of PHRC150_III:4, uncle of PHRC150_III:2, great-uncle of PHRC150_IV:1" "M" "no" "France" "" "0" "" "" "white" "PHRC150_II:3" "00361138" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case not indicated. Daughter of PHRC150_II:2, niece of PHRC150_III:4,/II:3, mother of PHRC150_IV:1" "F" "no" "France" "" "0" "" "" "white" "PHRC150_III:2" "00361139" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case not indicated. Son of PHRC150_II:3, cousin of PHRC150_III:2/II:2, first cousin (once removed) of PHRC150_IV:1" "M" "no" "France" "" "0" "" "" "white" "PHRC150_III:4" "00361140" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case not indicated. Son of PHRC150_III:2, first cousin (once removed) of PHRC150_III:4, grandson PHRC150_II:2, great-cousin PHRC150_II:3" "M" "no" "France" "" "0" "" "" "white" "PHRC150_IV:1" "00361141" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case" "F" "" "Spain" "" "0" "" "" "white" "B-206_ II:1" "00361142" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "M" "no" "Germany" "" "0" "" "" "white" "2645" "00361143" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 115" "00361144" "" "" "" "1" "" "04036" "{PMID:Katagiri 2018:29630435}" "index case, cousin of Family 1 (JU#0243): II-2/II-3" "M" "no" "Japan" "" "0" "" "" "Asia" "Family 1 (JU#0243): III-1" "00361145" "" "" "" "1" "" "04036" "{PMID:Katagiri 2018:29630435}" "Uncle of index case, brother of Family 1 (JU#0243): II-2" "M" "no" "Japan" "" "0" "" "" "Asia" "Family 1 (JU#0243): II-3" "00361146" "" "" "" "1" "" "04036" "{PMID:Katagiri 2018:29630435}" "Uncle of index case, brother of Family 1 (JU#0243): II-3" "M" "no" "Japan" "" "0" "" "" "Asia" "Family 1 (JU#0243): II-2" "00361147" "" "" "" "1" "" "04036" "{PMID:Katagiri 2018:29630435}" "index case, father of Family 2 (JU#0126): III-1" "M" "no" "Japan" "" "0" "" "" "Asia" "Family 2 (JU#0126): II-1" "00361148" "" "" "" "1" "" "04036" "{PMID:Katagiri 2018:29630435}" "Son index case" "M" "no" "Japan" "" "0" "" "" "Asia" "Family 2 (JU#0126): III-1" "00361149" "" "" "" "1" "" "04036" "{PMID:Katagiri 2018:29630435}" "index case" "M" "no" "Japan" "" "0" "" "" "Asia" "Family 3 (JU#0223): II-2" "00361150" "" "" "" "1" "" "04036" "{PMID:Katagiri 2018:29630435}" "index case, son of Family 4 (JU#0665): I-2" "M" "no" "Japan" "" "0" "" "" "Asia" "Family 4 (JU#0665): II-1" "00361151" "" "" "" "1" "" "04036" "{PMID:Katagiri 2018:29630435}" "Mother index case" "F" "no" "Japan" "" "0" "" "" "Asia" "Family 4 (JU#0665): I-2" "00361153" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "125" "00361154" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Germany" "" "0" "" "" "white" "Patient 116 (21470)" "00361155" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case not indicated" "F" "yes" "United States" "" "0" "" "" "" "Family_A_1002" "00361156" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case not indicated" "M" "yes" "United States" "" "0" "" "" "" "Family_A_1003" "00361157" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case not indicated" "M" "yes" "United States" "" "0" "" "" "" "Family_A_1004" "00361158" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case not indicated" "M" "yes" "United States" "" "0" "" "" "" "Family_A_1006" "00361159" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case not indicated" "M" "yes" "United States" "" "0" "" "" "" "Family_A_1012" "00361160" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case not indicated" "F" "yes" "United States" "" "0" "" "" "" "Family_A_1107" "00361161" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case not indicated" "M" "yes" "United States" "" "0" "" "" "" "Family_A_1111" "00361162" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case not indicated" "F" "yes" "United States" "" "0" "" "" "" "Family_A_1112" "00361163" "" "" "" "1" "" "04036" "{PMID:Wolock 2019:30926958}" "index case" "" "" "United States" "" "0" "" "" "" "3746" "00361164" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 117 (MARS-502000736)" "00361165" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "M" "no" "France" "" "0" "" "" "white" "FAM466_I:2" "00361166" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son of index case" "M" "no" "France" "" "0" "" "" "white" "FAM466_II:2" "00361167" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "F" "no" "France" "" "0" "" "" "white" "PHRC057_III:2" "00361168" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Mother index case, grandmother PHRC069_III:1/III:2" "F" "no" "France" "" "0" "" "" "white" "PHRC069_I:2" "00361169" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, son PHRC069_I:2, father PHRC069_III:1/III:2" "M" "no" "France" "" "0" "" "" "white" "PHRC069_II:2" "00361170" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son index case, brother PHRC069 III:2, grandson PHRC069 I:2" "M" "no" "France" "" "0" "" "" "white" "PHRC069_III:1" "00361171" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son index case, brother PHRC069 III:1, grandson PHRC069 I:2" "M" "no" "France" "" "0" "" "" "white" "PHRC069 III:2" "00361172" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Brother index case, father PHRC161 III:2, uncle PHRC161 III:4, great-uncle PHRC161 IV:4" "M" "no" "France" "" "0" "" "" "white" "PHRC161 II:2" "00361173" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, brother PHRC161 II:2, father PHRC161 III:4, uncle PHRC161 III:4, grandfather PHRC161 IV:4" "M" "no" "France" "" "0" "" "" "white" "PHRC161 II:3" "00361174" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Cousin index case/PHRC161 III:4, son PHRC161 /II:2, first cousin (once removed) PHRC161 IV:4" "M" "no" "France" "" "0" "" "" "white" "PHRC161 III:2" "00361175" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son index case, cousin PHRC161 III:2/II:2, father PHRC161 IV:4" "M" "no" "France" "" "0" "" "" "white" "PHRC161 III:4" "00361176" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Grandson index case, son PHRC161 III:4, first cousin (once removed) PHRC161 III:2, great-cousin PHRC1161 II:2" "M" "no" "France" "" "0" "" "" "white" "PHRC161 IV4" "00361177" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Sister index case/PHRC162 II:7/II:9/II:14, aunt PHRC162 III:1/III:2" "F" "no" "France" "" "0" "" "" "white" "PHRC162 II:3" "00361178" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Brother index case/PHRC162 II:3/II:9/II:14, uncle PHRC162 III:1/III:2" "M" "no" "France" "" "0" "" "" "white" "PHRC162 II:7" "00361179" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Sister index case/PHRC162 II:3/II:7/II:14, aunt PHRC162 III:1/III:2" "F" "no" "France" "" "0" "" "" "white" "PHRC162 II:9" "00361180" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, brother PHRC162 II:3/II:7/II:9/II:14, father PHRC162 III:1, uncle PHR162 III:2" "M" "no" "France" "" "0" "" "" "white" "PHRC162 II:12" "00361181" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Sister index case/PHRC162 II:3/II:7/II:9, mother PHRC162 III:2, aunt PHRC162 III:1" "F" "no" "France" "" "0" "" "" "white" "PHRC162 II:14" "00361182" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son index case, cousin PHRC162 II:3/II:7/II:9/II:14/III:2" "M" "no" "France" "" "0" "" "" "white" "PHRC162 III:1" "00361183" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son PHRC162 II:14, cousin index case/PHRC162 II:3/II:7/II:9/III:1" "M" "no" "France" "" "0" "" "" "white" "PHRC162 III:2" "00361184" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case, family member 33,2" "M" "" "United States" "" "0" "" "" "(white)" "33,1" "00361185" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case 33,1" "M" "" "United States" "" "0" "" "" "(white)" "33,2" "00361186" "" "" "" "1" "" "04036" "{PMID:Payne 1998:9443872}" "index case not indicated, nor the number of affected family members that carry the variant" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family 16" "00361187" "" "" "" "1" "" "04036" "{PMID:Wells 1993:8485576}" "index case" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Family_5_III:5" "00361188" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 118 (MIRA-901000940)" "00361189" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Uncle index case/Family_ 5913_III:6/III:7, brother Family_ 5913_II:6/II:7" "M" "no" "United States" "" "0" "" "" "" "Family_ 5913_II:2" "00361190" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Uncle index case, father Family_ 5913_III:6/III:7, brother Family_ 5913_II:2/II:7" "M" "no" "United States" "" "0" "" "" "" "Family_ 5913_II:6" "00361191" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Mother index case, sister Family_ 5913_II:2/II:6, aunt Family_ 5913_III:6/III:7" "F" "no" "United States" "" "0" "" "" "" "Family_ 5913_II:7" "00361192" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Cousin index case/Family_ 5913_II:2/II:7, brother Family_ 5913_III:7, son Family_ 5913_II:6" "M" "no" "United States" "" "0" "" "" "" "Family_ 5913_III:6" "00361193" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "Niece index case/Family_ 5913_II:2/II:7, sister Family_ 5913_III:6, daughter Family_ 5913_II:6" "F" "no" "United States" "" "0" "" "" "" "Family_ 5913_III:7" "00361194" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case, son of Family_ 5913_II:7, cousin Family_ 5913_II:2/II:6/III:6/III:7" "M" "no" "United States" "" "0" "" "" "" "Family_ 5913_III:9" "00361195" "" "" "" "1" "" "04036" "{PMID:Anasagasti 2013:24416769}" "index case" "" "" "Spain" "" "0" "" "" "white" "19" "00361196" "" "" "" "1" "" "04036" "{PMID:Felbor 1997:9338584}" "index case" "" "" "Germany" "" "0" "" "" "white" "784" "00361197" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "M" "" "Germany" "" "0" "" "" "white" "Patient 119 (x077JIKEI.JU0735_)" "00361198" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "195" "00361199" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "198" "00361200" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "193" "00361201" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case" "M" "no" "United States" "" "0" "" "" "" "Family_E082_II:1" "00361202" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "95" "00361203" "" "" "" "1" "" "04036" "{PMID:Bareil 1997:9361310}" "index case" "M" "no" "France" "" "0" "" "" "white" "E7" "00361204" "" "" "" "1" "" "04036" "{PMID:Strom 2012:22863181}" "index case" "F" "" "United States" "" "0" "" "" "" "STGD-03" "00361205" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 120 (GAIN-110100202)" "00361206" "" "" "" "1" "" "04036" "{PMID:Coco-Martin 2020:32660024}" "index case" "M" "no" "Spain" "" "0" "" "" "white" "Family_8_II-2" "00361207" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 144" "00361208" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Sister index case" "F" "no" "Netherlands" "" "0" "" "" "white" "Patient 144.1" "00361209" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "index case, mother of B-84_II:1/II:2" "F" "no" "Spain" "" "0" "" "" "white" "B-84_I:2" "00361210" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Son index case, brother B-84_II:2" "M" "no" "Spain" "" "0" "" "" "white" "B-84_II:1" "00361211" "" "" "" "1" "" "04036" "{PMID:Gamundi 2007:17653047}" "Daughter index case, sister B-84_II:2" "F" "no" "Spain" "" "0" "" "" "white" "B-84_II:2" "00361212" "" "" "" "1" "" "04036" "{PMID:Sears 2001:11704030}" "index case, half sister of patient II: 2/II:3/II:4" "F" "no" "United States" "" "0" "" "" "white" "Patient II:1" "00361213" "" "" "" "1" "" "04036" "{PMID:Sears 2001:11704030}" "Half brother of index case/II:3/II:4" "M" "no" "United States" "" "0" "" "" "white" "Patient II: 2" "00361214" "" "" "" "1" "" "04036" "{PMID:Sears 2001:11704030}" "Half sister of index case/II:2, sister of patient II:4" "F" "no" "United States" "" "0" "" "" "white" "Patient II: 3" "00361215" "" "" "" "1" "" "04036" "{PMID:Sears 2001:11704030}" "Half sister of index case/II:2, sister of patient II:3" "F" "no" "United States" "" "0" "" "" "white" "Patient II: 4" "00361216" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Mother index case,/Family_C_1002/1005/1011, grandmother of Family_C_2001/2002/2005" "F" "no" "United States" "" "0" "" "" "" "Family_C_103" "00361217" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Son of Family_C_103, brother of index case/Family_C_1005/1011, father of Family_C_2001/2002, uncle of Family_C_2005" "M" "no" "United States" "" "0" "" "" "" "Family_C_1002" "00361218" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Son of Family_C_103, brother of index case/Family_C_1002/1011, father of Family_C_2005, uncle of Family_C_2001/2002" "M" "no" "United States" "" "0" "" "" "" "Family_C_1005" "00361219" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case, daughter of Family_C_103, sister of Family_C_1002/1005/1011, aunt of Family_C_2001/2002/2005" "F" "no" "United States" "" "0" "" "" "" "Family_C_1008" "00361220" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Daughter of Family_C_103, sister index case/Family_C_1002/1005, aunt of Family_C_2001/2002/2005" "F" "no" "United States" "" "0" "" "" "" "Family_C_1011" "00361221" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Granddaughter of Family_C_103, daughter of Family_C_1002, sister of Family_C_2002, niece of index case/Family_C_1005/1011/2005" "F" "no" "United States" "" "0" "" "" "" "Family_C_2001" "00361222" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Grandson of Family_C_103, son of Family_C_1002, brother of Family_C_2001, cousin of index case/Family_C_1005/1011/2005" "M" "no" "United States" "" "0" "" "" "" "Family_C_2002" "00361223" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Grandson of Family_C_103, son of Family_C_1005, cousin of index case/Family_C_1002/1011/2001/2002" "M" "no" "United States" "" "0" "" "" "" "Family_C_2005" "00361224" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Mother of Family_D_1001, aunt of Family_D_1101, great aunt of index case/Family_D_2104" "F" "no" "United States" "" "0" "" "" "" "Family_D_101" "00361225" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Son of Family_D_101, cousin of Family_D_1101, first cousin (once removed) index case/Family_D_2104" "M" "no" "United States" "" "0" "" "" "" "Family_D_1001" "00361226" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Niece of Family_D_101/1001, mother of index case/Family_D_2104" "F" "no" "United States" "" "0" "" "" "" "Family_D_1101" "00361227" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Daughter of Family_D_1101, sister of index case, first niece (once removed) Family_D_1001, great niece Family_D_101" "F" "no" "United States" "" "0" "" "" "" "Family_D_2104" "00361228" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Daughter of Family_D_1101, sister of Family_D_2104, first niece (once removed) Family_D_1001, great niece Family_D_101" "F" "no" "United States" "" "0" "" "" "" "Family_D_2105" "00361229" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Aunt of index case, Family_E_2000/2002, great aunt of Family_E_2502" "F" "no" "United States" "" "0" "" "" "" "Family_E_1504" "00361230" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Brother index case/ Family_E_2002, cousin of Family_E_1504/Family_E_2502" "M" "no" "United States" "" "0" "" "" "" "Family_E_2000" "00361231" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Brother index case/ Family_E_2000, cousin of Family_E_1504/Family_E_2502" "M" "no" "United States" "" "0" "" "" "" "Family_E_2002" "00361232" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "index case, brother of Family_E_2000/2002, father of Family_E_2502, cousin of Family_E_1504" "M" "no" "United States" "" "0" "" "" "" "Family_E_2003" "00361233" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Daughter index case, niece Family_E_2000/2002, great niece of Family_E_1504" "F" "no" "United States" "" "0" "" "" "" "Family_E_2502" "00361234" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Sister index case" "F" "no" "United States" "" "0" "" "" "" "Family_F_2005" "00361235" "" "" "" "1" "" "04036" "{PMID:Francis 2005:16113362}" "Brother Family_F_2007" "M" "no" "United States" "" "0" "" "" "" "Family_F_2007" "00361236" "" "" "" "1" "" "04036" "{PMID:Sullivan 2013:23950152}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown 1" "00361237" "" "" "" "1" "" "04036" "{PMID:Sullivan 2013:23950152}" "index case" "" "" "United States" "" "0" "" "" "" "Unknown 2" "00361238" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 13" "00361239" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 14" "00361240" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 15" "00361241" "" "" "" "1" "" "04036" "{PMID:Alapati 2014:25082885}" "index case" "" "" "United States" "" "0" "" "" "(white)" "PatternDystrophy_patient 16" "00361242" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _1" "00361243" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _2" "00361244" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _3" "00361245" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _4" "00361246" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _5" "00361247" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _6" "00361248" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _7" "00361249" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _8" "00361250" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _9" "00361251" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam1 _10" "00361252" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam2 _1" "00361253" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam2 _2" "00361254" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam2 _3" "00361255" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam2 _4" "00361256" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam2 _5" "00361257" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam2 _6" "00361258" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case" "" "no" "United States" "" "0" "" "" "" "Fam3_1" "00361259" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam4_1" "00361260" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam4_2" "00361261" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam4_3" "00361262" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam5_1" "00361263" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam5_2" "00361264" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam5_3" "00361265" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam5_4" "00361266" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam5_5" "00361267" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam5_6" "00361268" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam5_7" "00361269" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam6_1" "00361270" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam6_2" "00361271" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam6_3" "00361272" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam6_4" "00361273" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam6_5" "00361274" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam6_6" "00361275" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam7_1" "00361276" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam7_2" "00361277" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam7_3" "00361278" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam8_1" "00361279" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam8_2" "00361280" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam8_3" "00361281" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam8_4" "00361282" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case" "" "no" "United States" "" "0" "" "" "" "Fam9_1" "00361283" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case" "" "no" "United States" "" "0" "" "" "" "Fam10_1" "00361284" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam11_1" "00361285" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam11_2" "00361286" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam11_3" "00361287" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam12_1" "00361288" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam12_2" "00361289" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam12_3" "00361290" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_1" "00361291" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_2" "00361292" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_3" "00361293" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_4" "00361294" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_5" "00361295" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_6" "00361296" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_7" "00361297" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_8" "00361298" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_9" "00361299" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_10" "00361300" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_11" "00361301" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_12" "00361302" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_13" "00361303" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_14" "00361304" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_15" "00361305" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_16" "00361306" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_17" "00361307" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_18" "00361308" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_19" "00361309" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_20" "00361310" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_21" "00361311" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_22" "00361312" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_23" "00361313" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_24" "00361314" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_25" "00361315" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_26" "00361316" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_27" "00361317" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_28" "00361318" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam13_29" "00361319" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_1" "00361320" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_2" "00361321" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_3" "00361322" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_4" "00361323" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_5" "00361324" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_6" "00361325" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_7" "00361326" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_8" "00361327" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_9" "00361328" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_10" "00361329" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam14_11" "00361330" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam15_1" "00361331" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam15_2" "00361332" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam15_3" "00361333" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam15_4" "00361334" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam16_1" "00361335" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case not indicated" "" "no" "United States" "" "0" "" "" "" "Fam16_2" "00361336" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case" "" "no" "United States" "" "0" "" "" "" "Fam17_1" "00361337" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case" "" "no" "United States" "" "0" "" "" "" "Fam18_1" "00361338" "" "" "" "1" "" "04036" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}" "index case" "" "no" "United States" "" "0" "" "" "" "Fam19_1" "00361339" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "1" "00361340" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case, family member 2,2" "M" "" "United States" "" "0" "" "" "(white)" "2,1" "00361341" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case" "F" "" "United States" "" "0" "" "" "(white)" "2,2" "00361342" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "3" "00361343" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case, family member 4,2" "F" "" "United States" "" "0" "" "" "(white)" "4,1" "00361344" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case" "M" "" "United States" "" "0" "" "" "(white)" "4,2" "00361345" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "5" "00361346" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case, family member 6,2/6,3/6,4" "M" "" "United States" "" "0" "" "" "(white)" "6,1" "00361347" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case/6,3/6,4" "F" "" "United States" "" "0" "" "" "(white)" "6,2" "00361348" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case/6,2/6,4" "F" "" "United States" "" "0" "" "" "(white)" "6,3" "00361349" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case/6,2/6,3" "F" "" "United States" "" "0" "" "" "(white)" "6,4" "00361350" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "7" "00361351" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case, family member 8,2" "F" "" "United States" "" "0" "" "" "(white)" "8,1" "00361352" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case" "F" "" "United States" "" "0" "" "" "(white)" "8,2" "00361353" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "9" "00361354" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "96" "00361355" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "97" "00361356" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "98" "00361357" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "99" "00361358" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "100" "00361359" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "101" "00361360" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case, family member 102,2" "M" "" "United States" "" "0" "" "" "(white)" "102,1" "00361361" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "Family member index case" "F" "" "United States" "" "0" "" "" "(white)" "102,2" "00361362" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "103" "00361363" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "104" "00361364" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "105" "00361365" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "106" "00361366" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "107" "00361367" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "108" "00361368" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "109" "00361369" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "110" "00361370" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "111" "00361371" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "112" "00361372" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "129" "00361373" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "132" "00361374" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "F" "" "Germany" "" "0" "" "" "white" "Patient 145 (24561)" "00361375" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case" "M" "no" "France" "" "0" "" "" "white" "PHRC011_II:2" "00361376" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Brother index case, uncle PHRC084_III:5" "M" "no" "France" "" "0" "" "" "white" "PHRC084_II:1" "00361377" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, mother PHRC084_III:5, sister PHRC084_II:1" "F" "no" "France" "" "0" "" "" "white" "PHRC084_II:3" "00361378" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Daughter index case, niece PHRC084_II:1" "F" "no" "France" "" "0" "" "" "white" "PHRC084_III:5" "00361379" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, cousin PHRC197_III:6, father PHRC197_IV:1/IV:2" "M" "no" "France" "" "0" "" "" "white" "PHRC197_III:2" "00361380" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Niece index case, first niece (once removed) PHRC197_IV:1/IV:2" "F" "no" "France" "" "0" "" "" "white" "PHRC197_III:6" "00361381" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son index case, brother PHRC197_IV:2, first cousin (once removed) PHRC197_III:6" "M" "no" "France" "" "0" "" "" "white" "PHRC197_IV:1" "00361382" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Son index case, brother PHRC197_IV:1, first cousin (once removed) PHRC197_III:6" "M" "no" "France" "" "0" "" "" "white" "PHRC197_IV:2" "00361383" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "Sister index case" "F" "no" "France" "" "0" "" "" "white" "FAM716_II:2" "00361384" "" "" "" "1" "" "04036" "{PMID:Manes 2015:25447119}" "index case, sister FAM716_II:2" "F" "no" "France" "" "0" "" "" "white" "FAM716_II:3" "00361385" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "Brother Family_R_II:4" "M" "no" "Germany" "" "0" "" "" "white" "Family_R_II:1" "00361386" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "Sister Family_R_II:1" "F" "no" "Germany" "" "0" "" "" "white" "Family_R_II:4" "00361387" "" "" "" "1" "" "04036" "{PMID:Sun 2015:26747767}" "index case" "F" "" "China" "" "0" "" "" "Asia" "HM774" "00361388" "" "" "" "1" "" "04036" "{PMID:Sun 2015:26747767}" "index case" "M" "" "China" "" "0" "" "" "Asia" "HM707" "00361389" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 138" "00361390" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 121 (DNA10-03322)" "00361391" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 122 (404000517)" "00361392" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 123 (404000258)" "00361393" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 124 (407001525)" "00361394" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 125 (407003105)" "00361395" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 126 (407004060)" "00361396" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 127 (404000233)" "00361397" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 128 (407004255)" "00361398" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 129 (407004061)" "00361399" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 130 (407002900)" "00361400" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 131 (407004150)" "00361401" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 132 (407000688)" "00361402" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 133 (407004059)" "00361403" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 134 (407000678)" "00361404" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 135 (407004182)" "00361405" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 136 (407003631)" "00361406" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 137 (502000491)" "00361407" "" "" "" "1" "" "04036" "{PMID:Kohl 1997:9279751}" "index case" "M" "no" "Germany" "" "0" "" "" "white" "Family_P_III:1" "00361408" "" "" "" "1" "" "04036" "{PMID:Ekström 1998:10193525}" "index case" "F" "" "Sweden" "" "0" "" "" "white" "RP27" "00361409" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "M" "no" "Germany" "" "0" "" "" "white" "33" "00361410" "" "" "" "1" "" "04036" "{PMID:Renner 2009:19038374}" "index case" "F" "no" "Germany" "" "0" "" "" "white" "5213" "00361411" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "150" "00361412" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "151" "00361413" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "152" "00361414" "" "" "" "1" "" "04036" "{PMID:Grover 2002:12045052}" "index case, brother of Family_1 III:3, son of Family_1 II:5" "M" "no" "United States" "" "0" "" "" "white" "Family_1 III:2" "00361415" "" "" "" "1" "" "04036" "{PMID:Grover 2002:12045052}" "Sister of index case, daughter of Family_1 II:5" "F" "no" "United States" "" "0" "" "" "white" "Family_1 III:3" "00361416" "" "" "" "1" "" "04036" "{PMID:Grover 2002:12045052}" "Father of index case and Family_1 III:3" "M" "no" "United States" "" "0" "" "" "white" "Family_1 II:5" "00361417" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8251014}" "Father of Family_1_II:1/II:4/II:6" "M" "no" "United States" "" "0" "" "" "(white)" "Family_1_I:1" "00361418" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8251014}" "Daughter of Family_1_I:1, sister of Family_1_II:4/II:6" "F" "no" "United States" "" "0" "" "" "(white)" "Family_1_II:1" "00361419" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8251014}" "Daughter of Family_1_I:1, sister of Family_1_II:1/II:6" "F" "no" "United States" "" "0" "" "" "(white)" "Family_1_II:4" "00361420" "" "" "" "1" "" "04036" "{PMID:Nichols 1993:8251014}" "Daughter of Family_1_I:1, sister of Family_1_II:1/II:4" "F" "no" "United States" "" "0" "" "" "(white)" "Family_1_II:6" "00361421" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "50" "00361422" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "51,1" "00361423" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "51,2" "00361424" "" "" "" "2" "" "04036" "{PMID:Xu 2014:24938718}" "index case" "M" "no" "China" "" "0" "" "" "Asia" "RP387_II:1" "00361425" "" "" "00361424" "1" "" "04036" "{PMID:Xu 2014:24938718}" "Brother index case" "M" "no" "China" "" "0" "" "" "Asia" "RP387_II:3" "00361426" "" "" "" "1" "" "04036" "{PMID:Xu 2014:24938718}" "index case" "M" "no" "China" "" "0" "" "" "Asia" "RP405" "00361427" "" "" "" "1" "" "04036" "{PMID:Felbor 1997:9338584}" "index case" "" "no" "Germany" "" "0" "" "" "white" "787" "00361428" "" "" "" "1" "" "04036" "{PMID:Heinzmann 1995:?}" "index case" "" "" "Mexico" "" "0" "" "" "Meso-American" "Unknown" "00361429" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:17148040}" "index case not indicated" "F" "no" "Germany" "" "0" "" "" "white" "Case 1" "00361430" "" "" "" "1" "" "04036" "{PMID:Keilhauer 2006:17148040}" "index case not indicated" "F" "no" "Germany" "" "0" "" "" "white" "Case 2" "00361431" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 139 (LUMC-40800114)" "00361432" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 140 (CORBI-404000519)" "00361433" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "158" "00361434" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 141 (EUGENDA-407002114)" "00361435" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 142 (EUGENDA-407001165)" "00361436" "" "" "" "1" "" "04036" "{PMID:de Breuk 2020:32717343}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 143 (EUGENDA-407003083)" "00361437" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case, mother family_5361_III:1, sister family_5361_II:3" "M" "no" "United States" "" "0" "" "" "" "Family_6899_II:2" "00361438" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "159" "00361439" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "160" "00361440" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "161" "00361441" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "148" "00361442" "" "" "" "1" "" "04036" "{PMID:Glöckle 2014:23591405}" "index case" "" "" "Germany" "" "0" "" "" "white" "1414" "00361443" "" "" "" "1" "" "04036" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "index case" "" "no" "Netherlands" "" "0" "" "" "white" "Patient 147" "00361444" "" "" "" "1" "" "04036" "{PMID:Jin 2008:18310263}" "index case" "" "" "Japan" "" "0" "" "" "Asia" "S_0101" "00361445" "" "" "" "1" "" "04036" "{PMID:Lim 2009:19506198}" "index case" "" "no" "China" "" "0" "" "" "Asia" "Unknown" "00361446" "" "" "" "1" "" "04036" "{PMID:Kim 2012:23049240}" "index case" "M" "" "Korea" "" "0" "" "" "Asia" "RP-0030" "00361447" "" "" "" "1" "" "04036" "{PMID:Huang 2013:23563732}" "2-generation family, 1 affected" "M" "no" "China" "" "0" "" "" "Asia" "Fam3PatII1" "00361448" "" "" "" "1" "" "04036" "{PMID:Felbor 1997:9338584}" "index case" "" "no" "Germany" "" "0" "" "" "white" "790" "00361449" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "113" "00361450" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "F" "" "United States" "" "0" "" "" "(white)" "114" "00361451" "" "" "" "1" "" "04036" "{PMID:Grover 2002:12045052}" "index case" "M" "no" "United States" "" "0" "" "" "white" "Family_2 III:2" "00361452" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "445" "00361453" "" "" "" "1" "" "04036" "{PMID:Jespersgaard 2019:30718709}" "index case" "" "" "Denmark" "" "0" "" "" "white" "446" "00361454" "" "" "" "1" "" "04036" "{PMID:Reeves 2020:32531846}" "index case" "M" "" "United States" "" "0" "" "" "(white)" "121" "00361455" "" "" "" "1" "" "04036" "{PMID:Dryja 1997:9331261}" "index case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Unknown" "00361456" "" "" "" "1" "" "04036" "{PMID:Xue 2014:25312462}" "index case" "" "" "China" "" "0" "" "" "Asia" "Unknown" "00361457" "" "" "" "1" "" "04036" "{PMID:Bareil 1997:9361310}" "index case" "F" "no" "France" "" "0" "" "" "white" "E3" "00363465" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "8J+Y.4" "00363510" "" "" "" "1" "" "00000" "{PMID:Yang 2015:26496393}" "family" "F" "" "China" "" "0" "" "" "Han" "RP214" "00363618" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0683" "00372639" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP325" "00373363" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00373475" "" "" "" "3" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 3 affected" "" "" "Spain" "" "0" "" "" "" "RP0652" "00373480" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP0992" "00373817" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Spain" "" "0" "" "" "" "Pat14" "00373867" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp108" "00373902" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-296-644" "00373913" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-301-703" "00373914" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-301-704" "00373949" "" "" "" "1" "" "00000" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Italy" "" "0" "" "" "" "P8 [F1]" "00375412" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#003" "00375424" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#018" "00375433" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#028" "00376169" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376172" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376173" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376174" "" "" "" "2" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376178" "" "" "" "2" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376179" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376181" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376312" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "present in unaffected mother" "" "" "Finland" "" "0" "" "" "Finnish" "" "00376506" "" "" "" "1" "" "00000" "{PMID:Lim-2009:19506198}" "" "" "" "" "" "0" "" "" "Chinese" "" "00376507" "" "" "" "1" "" "00000" "{PMID:Lim-2009:19506198}" "" "" "" "" "" "0" "" "" "Chinese" "" "00376508" "" "" "" "1" "" "00000" "{PMID:Lim-2009:19506198}" "" "" "" "" "" "0" "" "" "Chinese" "" "00376509" "" "" "" "1" "" "00000" "{PMID:Lim-2009:19506198}" "" "" "" "" "" "0" "" "" "Chinese" "" "00376510" "" "" "" "1" "" "00000" "{PMID:Lim-2009:19506198}" "" "" "" "" "" "0" "" "" "Chinese" "" "00376775" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "39" "00377731" "" "" "" "1" "" "00000" "{PMID:Bowne 2011:20861475}" "Positive Control Sample" "" "no" "" "" "0" "" "" "" "" "00377871" "" "" "" "1" "" "00000" "{PMID:Meunier 2011:21269699}" "" "F" "no" "" "" "0" "" "" "" "" "00377872" "" "" "" "1" "" "00000" "{PMID:Meunier 2011:21269699}" "" "F" "no" "" "" "0" "" "" "" "" "00377873" "" "" "" "1" "" "00000" "{PMID:Meunier 2011:21269699}" "" "F" "no" "" "" "0" "" "" "" "" "00378058" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0038" "00379446" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379489" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379490" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379491" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379524" "" "" "" "1" "" "00000" "{PMID:Foote-2019:10480356}" "" "M" "" "United States" "" "0" "" "" "" "" "00379568" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379752" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0096" "00379786" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00379793" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0151" "00379865" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016060103" "00380255" "" "" "" "1" "" "00000" "{PMID:Kim-2012:23049240}" "" "M" "" "China" "" "0" "" "" "" "" "00380311" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380344" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00380345" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00380346" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00380347" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00380348" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00380349" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00380350" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00381010" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00381623" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00381697" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381752" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381753" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381754" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381755" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381756" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381757" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381916" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "66" "00382361" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "190" "00382362" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "191" "00382363" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "192" "00382364" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "193" "00382366" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "195" "00382367" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "196" "00382368" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "197" "00382369" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "198" "00382370" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "199" "00382371" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "200" "00382372" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "201" "00382374" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "203" "00382375" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "204" "00382583" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "445" "00382584" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "446" "00382585" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "447" "00382586" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "448" "00382587" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "449" "00382588" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "450" "00382589" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "451" "00382832" "" "" "" "1" "" "00000" "{PMID:Mezer-2006:16767206}" "" "" "" "Canada" "" "0" "" "" "Canadian" "" "00382835" "" "" "" "1" "" "00000" "{PMID:Mezer-2006:16767206}" "" "" "" "Canada" "" "0" "" "" "Canadian" "" "00382836" "" "" "" "1" "" "00000" "{PMID:Mezer-2006:16767206}" "" "" "" "Canada" "" "0" "" "" "Canadian" "" "00383063" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383065" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383073" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383086" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383103" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383518" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00383758" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18070015_A" "00383798" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184099_B" "00383807" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184143_B" "00386190" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-144, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-304" "00386191" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-144, family member" "F" "" "Spain" "" "0" "" "" "" "RPN-415" "00386192" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-144, family member" "F" "" "Spain" "" "0" "" "" "" "RPN-416" "00386210" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-166, family member" "F" "" "Spain" "" "0" "" "" "" "RPN-331" "00386211" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-166, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-332" "00386260" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-238, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-608" "00386562" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-437" "00386657" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-243" "00386714" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2845_004430" "00386732" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2870_004455" "00386745" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2888_004473" "00386752" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2899_004484" "00386756" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2904_004489" "00386759" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2907_004492" "00386767" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2916_004501" "00386798" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2954_004539" "00386831" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI637_001302" "00386835" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI647_001318" "00386847" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI701_001399" "00386995" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Other" "21" "00387383" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "M" "" "China" "" "0" "" "" "" "3" "00387519" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "" "M" "" "United States" "" "0" "" "" "" "" "00388561" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.024" "00388576" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.081" "00388577" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.082" "00388579" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.093" "00388843" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 56, central areolar choroidal dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "127" "00388892" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 68, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "176" "00388904" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 71, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "188" "00388909" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 72, central areolar choroidal dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "193" "00388917" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 73, central areolar choroidal dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "201" "00388928" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 75, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "212" "00388954" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 82, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "238" "00388975" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 87, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "259" "00389097" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 127, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "381" "00389098" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 127, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "382" "00389099" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 127, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "383" "00389179" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 149, Stargardt Disease, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "463" "00389180" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 149, Stargardt Disease, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "464" "00389255" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 187, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "539" "00389276" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 200, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "560" "00389339" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 223, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "623" "00389340" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 223, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "624" "00389341" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 223, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "625" "00389351" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 227, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "635" "00389352" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 227, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "636" "00389382" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 237, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "666" "00389383" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 237, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "667" "00389386" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 239, Stargardt Disease, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "670" "00389388" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 242, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "672" "00389389" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 242, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "673" "00389400" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 248, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "684" "00389411" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 258, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "695" "00389412" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 258, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "696" "00389422" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 262, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "706" "00389477" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 295, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "761" "00389529" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 330, Stargardt Disease, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "813" "00389530" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 331, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "814" "00389554" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 346, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "838" "00389564" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 349, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "848" "00389578" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 355, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "862" "00389581" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 358, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "865" "00389618" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 379, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "902" "00389630" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 389, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "914" "00389631" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 389, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "915" "00389633" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 391, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "917" "00389658" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 415, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "942" "00389687" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 437, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "971" "00389711" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 458, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "995" "00389712" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 458, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "996" "00389713" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 458, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "997" "00389718" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 466, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1002" "00389720" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 471, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1004" "00389738" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 537, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1022" "00389780" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 666, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1064" "00389784" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 678, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1068" "00389785" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 678, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1069" "00389807" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 727, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1091" "00389820" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 744, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1104" "00389822" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 746, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1106" "00389949" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 984, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1233" "00389966" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1033, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1250" "00389972" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1046, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1256" "00390038" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1495" "00390354" "" "" "" "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" "" "" "" "G005550" "00390355" "" "" "" "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" "" "" "" "G007674" "00390356" "" "" "" "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" "" "" "" "G007725" "00390357" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000253" "00390733" "" "" "" "1" "" "00000" "{PMID:Habibi 2020:32641690}" "Family F17, patient V.1" "F" "" "Tunisia" "" "0" "" "" "" "F17_V.1" "00390844" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390852" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390853" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390858" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390866" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390872" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390874" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390875" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390897" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390899" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390938" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390952" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390962" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390968" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390972" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390973" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390977" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390979" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390988" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00391183" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "145" "00391184" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "146" "00391185" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "147" "00391186" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "148" "00391187" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "149" "00391188" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "150" "00391189" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "151" "00391190" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "152" "00391191" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "153" "00391193" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "155" "00391194" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "156" "00391195" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "157" "00391196" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "158" "00391197" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "159" "00391198" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "160" "00391199" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "161" "00391200" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "162" "00391201" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "163" "00391202" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "164" "00391203" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "165" "00391204" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "166" "00392373" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19648" "00392616" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "79" "00392647" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "130" "00392778" "" "" "" "1" "" "00000" "{PMID:Donato-2021:33801777}" "" "M" "yes" "Egypt" "" "0" "" "" "" "II:1" "00392779" "" "" "" "1" "" "00000" "{PMID:Donato-2021:33801777}" "" "M" "yes" "Egypt" "" "0" "" "" "" "II:2" "00393344" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-044" "00393345" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-050" "00393346" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-099" "00393468" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393647" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393675" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00394500" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394501" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394502" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394503" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394504" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00395229" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 17, individual II.1" "?" "" "Switzerland" "" "0" "" "" "" "17/II.1" "00395230" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 18, individual II.2" "?" "" "Switzerland" "" "0" "" "" "" "18/II.2" "00395231" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 19, individual III.2" "?" "" "Switzerland" "" "0" "" "" "" "19/III.2" "00395440" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F56, individual 57" "F" "" "Italy" "" "0" "" "" "" "57" "00395441" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F56, individual 58" "F" "" "Italy" "" "0" "" "" "" "58" "00395442" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F57, individual 59" "F" "" "Italy" "" "0" "" "" "" "59" "00395443" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F57, individual 60" "M" "" "Italy" "" "0" "" "" "" "60" "00395444" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F58, individual 61" "F" "" "Italy" "" "0" "" "" "" "61" "00395445" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F59, individual 62" "F" "" "Italy" "" "0" "" "" "" "62" "00395446" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F60, individual 63" "M" "" "Italy" "" "0" "" "" "" "63" "00395447" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F60, individual 64" "M" "" "Italy" "" "0" "" "" "" "64" "00395448" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F61, individual 65" "M" "" "Italy" "" "0" "" "" "" "65" "00395449" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F61, individual 66" "F" "" "Italy" "" "0" "" "" "" "66" "00395450" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F62, individual 67" "M" "" "Italy" "" "0" "" "" "" "67" "00395451" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F63, individual 68" "M" "" "Italy" "" "0" "" "" "" "68" "00395452" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F64, individual 69" "F" "" "Italy" "" "0" "" "" "" "69" "00395453" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F64, individual 70" "F" "" "Italy" "" "0" "" "" "" "70" "00395454" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F65, individual 71" "F" "" "Italy" "" "0" "" "" "" "71" "00395455" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F66, individual 72" "M" "" "Italy" "" "0" "" "" "" "72" "00395456" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F66, individual 73" "M" "" "Italy" "" "0" "" "" "" "73" "00395457" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F67, individual 74" "M" "" "Italy" "" "0" "" "" "" "74" "00395458" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F68, individual 75" "M" "" "Italy" "" "0" "" "" "" "75" "00395459" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F69, individual 76" "F" "" "Italy" "" "0" "" "" "" "76" "00395460" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F70, individual 77" "F" "" "Italy" "" "0" "" "" "" "77" "00395892" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F155" "00395893" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F211" "00395907" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F031" "00400083" "" "" "" "1" "" "00000" "{PMID:Ng 2019:30948794}" "proband; pedigree patient numbers differ from table numbers" "F" "" "China" "" "0" "" "" "" "F3-II-6" "00406352" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?" "00406353" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?" "00406354" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?" "00406355" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?" "00406356" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?" "00406357" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?" "00408396" "" "" "" "1" "" "03468" "" "" "" "" "Mexico" "" "" "" "" "" "" "00408401" "" "" "" "1" "" "03468" "" "" "" "" "" "" "" "" "" "" "" "00408439" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "27" "00419218" "" "" "" "1" "" "00000" "{PMID:Bardak 2016:27813578}" "multiple indiviuals, heterozygous" "" "" "" "" "0" "" "" "" "?" "00419219" "" "" "" "1" "" "00000" "{PMID:Bardak 2016:27813578}" "multiple indiviuals, homo- and heterozygous" "" "" "" "" "0" "" "" "" "?" "00419220" "" "" "" "1" "" "00000" "{PMID:Bardak 2016:27813578}" "multiple indiviuals, homo- and heterozygous" "" "" "" "" "0" "" "" "" "?" "00419716" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070509" "00419717" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070553" "00420413" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F031" "00420484" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F155" "00420522" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F211" "00426692" "" "" "" "1" "" "00000" "{PMID:Lai 2005:16364203}" "" "M" "" "China" "" "0" "" "" "Chinese" "III-12" "00426693" "" "" "" "1" "" "00000" "{PMID:Lai 2005:16364203}" "" "F" "" "China" "" "0" "" "" "Chinese" "III-6" "00426694" "" "" "" "1" "" "00000" "{PMID:Lai 2005:16364203}" "" "M" "" "China" "" "0" "" "" "Chinese" "IV-5" "00426701" "" "" "" "30" "" "00000" "{PMID:Bardak 2016:27813578}" "" "" "" "" "" "0" "" "" "" "" "00426702" "" "" "" "1" "" "00000" "{PMID:Bardak 2016:27813578}" "" "" "" "" "" "0" "" "" "" "" "00426801" "" "" "" "1" "" "00000" "{PMID:Aleman 2009:18704120}" "" "F" "" "" "" "0" "" "" "" "" "00426802" "" "" "" "1" "" "00000" "{PMID:Aleman 2009:18704120}" "" "F" "" "" "" "0" "" "" "" "" "00427996" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A088" "00429522" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429541" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429563" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429588" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429601" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429653" "" "" "" "1" "" "04436" 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"00406354" "04214" "00406355" "04214" "00406356" "04214" "00406357" "04214" "00408396" "05412" "00408401" "05412" "00408439" "04214" "00419218" "04214" "00419219" "04214" "00419220" "04214" "00419716" "04214" "00419717" "04214" "00420413" "04214" "00420484" "04214" "00420522" "04214" "00426692" "04214" "00426693" "04214" "00426694" "04214" "00426701" "04214" "00426702" "00000" "00426801" "04214" "00426802" "04214" "00427996" "00198" "00429522" "00112" "00429541" "00112" "00429563" "00112" "00429588" "00112" "00429601" "04214" "00429653" "00112" "00429832" "04214" "00429881" "00112" "00429918" "00112" "00429928" "00112" "00429989" "00112" "00430046" "00112" "00430071" "00112" "00430074" "04210" "00430087" "00112" "00430104" "00112" "00430132" "00112" "00435128" "00058" "00435129" "03257" "00435130" "00058" "00435131" "00058" "00435132" "03257" "00435133" "03257" "00435134" "05121" "00435135" "05412" "00435138" "05412" "00435139" "05412" "00435140" "05412" "00435141" "05412" "00435142" "05412" "00435143" "05412" "00435144" "05412" "00435145" "05412" "00435146" "05412" "00435147" "05412" "00435148" "05412" "00436456" "02156" "00444307" "04214" "00446940" "00198" "00446953" "00198" "00447035" "00198" "00447077" "00198" "00447081" "00198" "00447093" "00198" "00447095" "00198" "00447106" "00198" "00447158" "00198" "00447159" "00198" "00447161" "00198" "00447175" "00198" "00447176" "00198" "00447184" "00198" "00447198" "00198" "00447324" "00198" "00447350" "00198" "00447395" "00198" "00447492" "00198" "00447493" "00198" "00447547" "00198" "00447564" "00198" "00447584" "00198" "00447598" "00198" "00447615" "00198" "00447623" "00198" "00450933" "04249" "00450934" "04249" "00450935" "04249" "00450936" "04249" "00450937" "04249" "00450938" "04249" "00450939" "04249" "00450940" "04249" "00450941" "04249" "00450942" "04249" "00450943" "04249" "00450944" "04249" "00450945" "04249" "00450946" "04249" "00450947" "04249" "00450948" "04249" "00450949" "04249" "00450950" "04249" "00450951" "04249" "00450952" "04249" "00450953" "04249" "00450954" "04249" "00450955" "04249" "00450956" "04249" "00450957" "04249" "00450958" "04249" "00450959" "04249" "00450960" "04249" "00450961" "04249" "00450962" "04249" "00450963" "04249" "00450964" "04249" "00450965" "04249" "00450966" "04249" "00461087" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00058, 00112, 00198, 01339, 01424, 01494, 02156, 02739, 03257, 04210, 04214, 04249, 05121, 05412, 05415 ## Count = 2051 "{{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}}" "0000026524" "04214" "00033095" "00229" "Unknown" "6y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026545" "04214" "00033116" "00229" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026776" "04214" "00033347" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000172854" "00198" "00229588" "01807" "Unknown" "" "HP:0000548 (Cone/cone-rod dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000172855" "00198" "00229589" "01807" "Unknown" "" "HP:0000548 (Cone/cone-rod dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000201568" "00198" "00263129" "01807" "Unknown" "" "Macular dystrophy (HP:0007754)" "" "" "" "" "" "" "" "" "" "" "" "0000207912" "04214" "00271296" "03536" "Familial, autosomal dominant" "54y" "see paper; ..., severe hypovision in adulthood" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227915" "04214" "00300604" "01848" "Familial, autosomal dominant" "45y" "RP, narrowing of visual field , constricted with ring scotoma" "27y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000228768" "00198" "00301667" "01807" "Unknown" "" "Macular dystrophy (HP:0007754); Vitelliform-like macular lesions (HP:0007677)" "" "" "" "" "" "" "" "" "" "" "" "0000228769" "00198" "00301668" "01807" "Unknown" "" "Macular dystrophy (HP:0007754)" "" "" "" "" "" "" "" "" "" "" "" "0000233255" "00198" "00307695" "01164" "Unknown" "" "Macular dystrophy (HP:0007754)" "" "" "" "" "" "" "" "" "" "" "" "0000233814" "04214" "00308387" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233815" "04214" "00308388" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233964" "04214" "00308536" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233965" "04214" "00308537" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233966" "04214" "00308538" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234049" "04214" "00308621" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234100" "04214" "00308672" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000234635" "04214" "00309315" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234636" "04214" "00309316" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234637" "04214" "00309317" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PD" "" "0000234638" "04214" "00309318" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234639" "04214" "00309319" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234640" "04214" "00309320" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234641" "04214" "00309321" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234642" "04214" "00309322" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "adult onset vitilliform dystrphy" "" "0000234643" "04214" "00309323" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234644" "04214" "00309324" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234645" "04214" "00309325" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234646" "04214" "00309326" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000234647" "04214" "00309327" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000234648" "04214" "00309328" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "PD" "" "0000234649" "04214" "00309329" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000242709" "02739" "00324128" "01164" "Unknown" "62y" "(+) Macular degeneration,(+) Abnormal macular morphology,(+) Cone dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000242817" "04214" "00324247" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "adult vitelliform macular dystrophy (AVMD)" "" "0000245226" "04214" "00326760" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245227" "04214" "00326761" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245228" "04214" "00326762" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245229" "04214" "00326763" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245230" "04214" "00326764" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245231" "04214" "00326765" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245232" "04214" "00326766" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245233" "04214" "00326767" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245234" "04214" "00326768" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245235" "04214" "00326769" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245236" "04214" "00326770" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245237" "04214" "00326771" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245238" "04214" "00326772" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245239" "04214" "00326773" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245240" "04214" "00326774" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245241" "04214" "00326775" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245242" "04214" "00326776" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245243" "04214" "00326777" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP vs. AFMD)" "" "0000245244" "04214" "00326778" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245245" "04214" "00326779" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000245246" "04214" "00326780" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone degeneration, progressive" "" "0000245247" "04214" "00326781" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bardet Biedl" "" "0000245248" "04214" "00326782" "00008" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "isolated cone-rod dystrophy" "" "0000245249" "04214" "00326783" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular degeneration with peripheral involvement." "" "0000245250" "04214" "00326784" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular degeneration with peripheral involvement." "" "0000245251" "04214" "00326785" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular degeneration with peripheral involvement." "" "0000245252" "04214" "00326786" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular degeneration with peripheral involvement." "" "0000245253" "04214" "00326787" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular degeneration with peripheral involvement." "" "0000246186" "04214" "00327959" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000246372" "04214" "00328145" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246389" "04214" "00328162" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246405" "04214" "00328178" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246436" "04214" "00328209" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246547" "04214" "00328320" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000246610" "04214" "00328384" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246611" "04214" "00328385" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246612" "04214" "00328386" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246659" "04214" "00328433" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000249486" "04214" "00331293" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000250176" "04214" "00331985" "00000" "Familial, autosomal dominant" "56y" "reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline" "48y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250177" "04214" "00331986" "00000" "Familial, autosomal dominant" "53y" "reduced visual acuity; EOG reduced; scotopic ERG normal; photopic ERG borderline" "40y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250178" "04214" "00331987" "00000" "Familial, autosomal dominant" "53y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "46y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250179" "04214" "00331988" "00000" "Familial, autosomal dominant" "48y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "47y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250180" "04214" "00331989" "00000" "Familial, autosomal dominant" "76y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "66y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250181" "04214" "00331990" "00000" "Familial, autosomal dominant" "46y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "46y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250182" "04214" "00331991" "00000" "Familial, autosomal dominant" "60y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "54y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250183" "04214" "00331992" "00000" "Familial, autosomal dominant" "63y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "61y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250184" "04214" "00331993" "00000" "Familial, autosomal dominant" "51y" "reduced visual acuity; EOG borderline; scotopic ERG normalreduced; photopic ERG borderline" "46y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250185" "04214" "00331994" "00000" "Familial, autosomal dominant" "56y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "48y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250186" "04214" "00331995" "00000" "Familial, autosomal dominant" "72y" "reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished" "40y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250187" "04214" "00331996" "00000" "Familial, autosomal dominant" "65y" "metamorphopsia; scotopic ERG normalreduced; photopic ERG borderline" "60y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250188" "04214" "00331997" "00000" "Familial, autosomal dominant" "15y" "incidental finding; scotopic ERG borderline; photopic ERG borderline" "15y" "" "incidental finding" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250189" "04214" "00331998" "00000" "Familial, autosomal dominant" "63y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "63y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250190" "04214" "00331999" "00000" "Unknown" "54y" "night vision problems; scotopic ERG normalreduced; photopic ERG borderline" "25y" "" "night vision problems" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250191" "04214" "00332000" "00000" "Familial, autosomal dominant" "33y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "27y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250192" "04214" "00332001" "00000" "Familial, autosomal dominant" "55y" "reduced visual acuity" "51y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250193" "04214" "00332002" "00000" "Familial, autosomal dominant" "50y" "metamorphopsia; scotopic ERG normalreduced; photopic ERG borderline" "50y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250194" "04214" "00332003" "00000" "Familial, autosomal dominant" "48y" "metamorphopsia; scotopic ERG normalreduced; photopic ERG not analyzable" "46y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250195" "04214" "00332004" "00000" "Familial, autosomal dominant" "49y" "reduced visual acuity; scotopic ERG not analyzable; photopic ERG borderline" "46y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250196" "04214" "00332005" "00000" "Familial, autosomal dominant" "75y" "reduced visual acuity" "68y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250197" "04214" "00332006" "00000" "Familial, autosomal dominant" "53y" "metamorphopsia; EOG normal" "50y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250198" "04214" "00332007" "00000" "Familial, autosomal dominant" "56y" "metamorphopsia, reduced visual acuity; scotopic ERG normal; photopic ERG normal" "45y" "" "metamorphopsia, reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250199" "04214" "00332008" "00000" "Familial, autosomal dominant" "60y" "metamorphopsia; EOG borderline; scotopic ERG normalreduced; photopic ERG borderline" "50y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250200" "04214" "00332009" "00000" "Familial, autosomal dominant" "52y" "reduced visual acuity; EOG borderline; scotopic ERG normal; photopic ERG normal" "52y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250201" "04214" "00332010" "00000" "Familial, autosomal dominant" "92y" "reduced visual acuity" "88y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250202" "04214" "00332011" "00000" "Familial, autosomal dominant" "80y" "reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline" "64y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250203" "04214" "00332012" "00000" "Familial, autosomal dominant" "65y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "56y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250204" "04214" "00332013" "00000" "Familial, autosomal dominant" "77y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "57y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250394" "04214" "00332207" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250395" "04214" "00332208" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000250396" "04214" "00332209" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000250456" "04214" "00332269" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000250565" "04214" "00332379" "00006" "Unknown" "60y" "see paper; ..." "" "" "" "" "" "" "" "" "" "Bull’s eye maculopathy" "" "0000250682" "04214" "00332498" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (AD)" "" "0000251570" "04214" "00333383" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CRD" "" "0000251571" "04214" "00333384" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CRD" "" "0000251597" "04214" "00333410" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RD" "" "0000251623" "04214" "00333437" "00000" "Unknown" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251625" "04214" "00333440" "00000" "Familial, autosomal dominant" "32y" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000251626" "04214" "00333441" "00000" "Familial, autosomal dominant" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "" "asymptomatic at ophthalmic exam" "" "0000251628" "04214" "00333443" "00000" "Familial, autosomal dominant" "3y" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000251630" "04214" "00333445" "00000" "Familial, autosomal dominant" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251631" "04214" "00333446" "00000" "Familial, autosomal dominant" "59y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251632" "04214" "00333447" "00000" "Familial, autosomal dominant" "76y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251633" "04214" "00333448" "00000" "Familial, autosomal dominant" "50y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251634" "04214" "00333449" "00000" "Familial, autosomal dominant" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251713" "04214" "00333529" "00000" "Familial, autosomal dominant" "44y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251777" "04214" "00333593" "00000" "Familial, autosomal dominant" "55y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251778" "04214" "00333594" "00000" "Familial, autosomal dominant" "52y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251802" "04214" "00333618" "00000" "Familial, autosomal dominant" "20y" "clinical category IA1b" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000251861" "04214" "00333677" "00000" "Familial, autosomal dominant" "68y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" "" "0000251862" "04214" "00333678" "00000" "Familial, autosomal dominant" "62y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000251863" "04214" "00333679" "00000" "Familial, autosomal dominant" "56y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000251864" "04214" "00333680" "00000" "Familial, autosomal dominant" "54y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v cone dystrophy" "" "0000251865" "04214" "00333681" "00000" "Familial, autosomal dominant" "46y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v pattern dystrophy" "" "0000251890" "04214" "00333706" "00000" "Familial, autosomal dominant" "53y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251891" "04214" "00333707" "00000" "Familial, autosomal dominant" "42y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251892" "04214" "00333708" "00000" "Familial, autosomal dominant" "61y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000251893" "04214" "00333709" "00000" "Familial, autosomal dominant" "58y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251894" "04214" "00333710" "00000" "Familial, autosomal dominant" "69y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251895" "04214" "00333711" "00000" "Familial, autosomal dominant" "30y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251896" "04214" "00333712" "00000" "Familial, autosomal dominant" "64y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251897" "04214" "00333713" "00000" "Familial, autosomal dominant" "48y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251898" "04214" "00333714" "00000" "Familial, autosomal dominant" "61y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251899" "04214" "00333715" "00000" "Familial, autosomal dominant" "69y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251900" "04214" "00333716" "00000" "Familial, autosomal dominant" "63y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251901" "04214" "00333717" "00000" "Familial, autosomal dominant" "28y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" "" "0000251902" "04214" "00333718" "00000" "Familial, autosomal dominant" "65y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251903" "04214" "00333719" "00000" "Familial, autosomal dominant" "66y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251904" "04214" "00333720" "00000" "Familial, autosomal dominant" "48y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251905" "04214" "00333721" "00000" "Familial, autosomal dominant" "48y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" "" "0000251906" "04214" "00333722" "00000" "Familial, autosomal dominant" "36y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251907" "04214" "00333723" "00000" "Familial, autosomal dominant" "59y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251908" "04214" "00333724" "00000" "Familial, autosomal dominant" "73y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251909" "04214" "00333725" "00000" "Familial, autosomal dominant" "27y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251910" "04214" "00333726" "00000" "Familial, autosomal dominant" "40y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251911" "04214" "00333727" "00000" "Familial, autosomal dominant" "52y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000251912" "04214" "00333728" "00000" "Familial, autosomal dominant" "76y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000252862" "00198" "00335147" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000253330" "04214" "00335384" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253526" "04214" "00335581" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253527" "04214" "00335582" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253528" "04214" "00335583" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253529" "04214" "00335584" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253584" "04214" "00335664" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253585" "04214" "00335665" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253586" "04214" "00335666" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253587" "04214" "00335667" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253588" "04214" "00335668" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253589" "04214" "00335669" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253590" "04214" "00335670" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253591" "04214" "00335671" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253592" "04214" "00335672" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253593" "04214" "00335673" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253594" "04214" "00335674" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253595" "04214" "00335675" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253596" "04214" "00335676" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253597" "04214" "00335677" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253598" "04214" "00335678" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253599" "04214" "00335679" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253648" "04214" "00335730" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253739" "04214" "00335838" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000253903" "04214" "00335988" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254531" "04214" "00359234" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" "" "0000254660" "04214" "00359416" "00008" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254661" "04214" "00359417" "00008" "Familial, autosomal dominant" "" "" "50y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254662" "04214" "00359418" "00008" "Familial" "" "" "60y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254663" "04214" "00359419" "00008" "Familial" "" "" "69y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254664" "04214" "00359420" "00008" "Familial" "" "" "70y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254665" "04214" "00359421" "00008" "Familial" "" "" "70y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254666" "04214" "00359422" "00008" "Familial" "" "" "71y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254667" "04214" "00359423" "00008" "Familial" "" "" "73y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254668" "04214" "00359424" "00008" "Familial" "" "" "78y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254669" "04214" "00359425" "00008" "Familial" "" "" "80y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000254670" "04214" "00359426" "00008" "Familial" "" "" "81y" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "0000255370" "04214" "00359965" "04036" "Familial, autosomal dominant" "" "On fundus image a small central vitelliform lesion and a large arcuate lesion below the superotemporal vascular arcade were seen. Autofluorescence imaging shows the large eccentric lesion with scattered areas of increased autofluorescence. At the inferior edges of this lesion, pseudohypopyonlike deposits of hyperautofluorescent material are seen. Visual aquity: OD = 20/20 OS= 20/20 | Number of lesions: OD = 3 OS = 4 | EOG findings: OD = 1.4 OS = 1.5" "58y" "" "Decreased visual acuity" "" "" "" "" "" "" "multifocal vitelliform dystrophy" "" "0000255371" "04214" "00359966" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "0000255372" "04214" "00359967" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "0000255373" "04214" "00359968" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20." "38y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255374" "04214" "00359969" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 0.3 OS =0.1," "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255375" "04214" "00359970" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255376" "04214" "00359971" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255377" "04214" "00359972" "04036" "Familial, autosomal dominant" "" "early onset; visual acuity: OD = N/A, OS = N/A. Refraction: OD = -14, OS = -11,5. Axial length: OD = 26.54, OS = 26.78." "3y" "" "" "" "" "" "" "" "" "high myoipia" "" "0000255378" "04214" "00359973" "04036" "Familial, autosomal dominant" "" "Viasual acuity: OD = Light perception, OU = 0.2; RE_OD (diopter) = not correctabe, RE_OU (diopter)= -2,5." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255379" "04214" "00359974" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: Atrophic confluence of yellow‐white lesions, surrounded by STGD1‐like lesions in macula. Peripheral retina showed no abnormalities." "44y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255380" "04214" "00359975" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: Small yellow lesions with pigmented centre in foveal area, similar to lesions seen in proband B, many STGD1‐like flecks around vascular arcades; visual acuity: OD = 0.8 OS = 0.5;" "30y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255381" "04214" "00359976" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255382" "04214" "00359977" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255383" "04214" "00359978" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255384" "04214" "00359979" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255385" "04214" "00359980" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: At age 51 fundus revealed foveal hyperpigmentation and circumscribed, perifoveal atrophy within the macula, and in addition, subretinal, yellow-white, punctate deposits were present. At age 59, the fundi showed diffuse retinal and choroidal atrophy posterior to the equator with retinal arteriolar narrowing and rare clumps of intraretinal pigment. Anterior to the atrophic area, the retina was relatively normal in appearance. In the transition region between the atrophic and non-atrophic areas, some indistinct, yellow-white, subretinal dots remained, many of which appeared to have coalesced. The optic discs were pale.;" "40y" "" "Nightblindness" "" "" "" "" "" "" "retinitis punctata albescens" "" "0000255386" "04214" "00359981" "04036" "Familial, autosomal dominant" "" "visual acuity and visual field: normal acuities and full visual fields but had a dark-adapted threshold elevated 0.5 log-units." "33y" "" "" "" "" "" "" "" "" "retinitis punctata albescens" "" "0000255387" "04214" "00359982" "04036" "Familial, autosomal dominant" "" "The central visual acuity was on the right 0.32, and on the left 0.8. All of the examination modalities showed side-symmetrical findings." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255388" "04214" "00359983" "04036" "Unknown" "" "ERG: Abnormal rod and cone response; Colour vision: not tested" "58y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255389" "04214" "00359984" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = hand motion. ERG: Not determined" "22y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255390" "04214" "00359985" "04036" "Familial, autosomal dominant" "" "visual acuity was correctable to 20/70 + 2 in the right eye with a refraction of -3.75 +0.50 and to 20/40 - 2 in the left eye with a refraction of -2.00. Slit-lamp examination showed normal findings in the cornea, anterior chamber, iris, and lens in both eyes. The vitreous was clear. Applanation pressures were 13 mmHg in the right eye and 12 mmHg in the left eye. A fundus examination result disclosed a normal optic disc and retinal vessels in each eye. Peripapillary atrophy of the retinal pigment epithelium was noted bilaterally. The foveas showed nonspecific and mild pigment mottling. Anterior to the retinal vascular arcades, there were nonspecific regions of patchy hypopigmentation. Visual field testing showed a central scotoma in the right eye to a II-2-e test target. The peripheral boundaries were normal." "36y" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000255391" "04214" "00359986" "04036" "Familial, autosomal dominant" "" "visual acuity was correctable to 201/0 - 1 in the right eye with a refraction of -3.25 +0.25 and to 20/30 - 2 in the left eye with a refraction of -3.25 +0.75. Results of slit-lamp examination of the cornea, anterior chamber, and lenses were normal. Applanation pressures were 14 mmHg in each eye. The fundus examination showed a normal optic disc and retinal vessels. A small degree of peripapillary atrophy of the retinal pigment epithelium was seen. There was bilateral blunting of the foveal reflexes. Anterior to the retinal vascular arcades, there was a nonspecific blotchy hypopigmentation of the retinal pigment epithelium. The peripheral retina did not show any hypopigmentation or pigment clumping." "67y" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000255392" "04214" "00359987" "04036" "Familial, autosomal dominant" "" "visual acuity was correctable to 20/70 + 2 in the right eye with a refraction of -3.75 +0.50 Xl80 and to 20/40 - 2 in the left eye with a refraction of -2.00. Slit-lamp examination showed normal findings in the cornea, anterior chamber, iris, and lens in both eyes." "27y" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000255393" "04214" "00359988" "04036" "Unknown" "" "visual acuity: OD = 20/200, OS = 20/160. ERG: Not determined" "36y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255394" "04214" "00359989" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/70. ERG: Not determined" "27y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255395" "04214" "00359990" "04036" "Familial, autosomal dominant" "" "early-onset" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000255396" "04214" "00359991" "04036" "Familial, autosomal dominant" "" "Fundus: waxy pallor of optic disc along with arteriolar narrowing and bull’s eye pattern macular atrophy involving the fovea. OCT: atrophy of the outer retinaRPE-choriocapillaries complex in both eyes with subretinal depositions mainly in the fovea." "" "" "Low vision, jerky nystagmus, photophobia along with nyctalopia" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255397" "04214" "00359992" "04036" "Familial, autosomal dominant" "" "Fundus: mild waxy pallor of the optic disc along with extensive chorioretinal atrophy involving the posterior pole and midperiphery with sparing of the fovea in the right eye. Pigment spicules were markedly apparent in the midperiphery. OCT: atrophy of the outer retina-RPE-choriocapillaries complex in both eyes." "40y" "" "Gradually decreasing central vision in the right eye, accompanied with a progressive nyctalopia and visual field defect" "" "" "" "" "" "" "end stage fundus flavimaculatus" "" "0000255398" "04214" "00359993" "04036" "Familial, autosomal dominant" "" "Fundus: trace pallor of optic disc along with areolar or patchy type chorioretinal atrophy predominantly involving the macula. OCT: atrophy of the outer retina-RPE-choriocapillaries complex in both eyes with a relative preservation of the fovea." "50y" "" "Gradually decreasing central vision" "" "" "" "" "" "" "central areolar chorioretinal dystrophy" "" "0000255399" "04214" "00359994" "04036" "Familial, autosomal dominant" "" "Fundus: fleck type subretinal vitelliform depositions in the macula. FAF: hyperautofluorescent patterns corresponded to subretinal depositions which were clearly appreciated throughout the posterior pole. OCT: only subretinal or above RPE deposition without retinal atrophy." "" "" "" "" "" "" "" "" "" "macular pattern dystrophy" "" "0000255400" "04214" "00359995" "04036" "Familial, autosomal dominant" "" "Fundus shows a partially resolved pseudo-vitelliform detachment with cuticular and soft drusen in the right eye, while drusen-like deposits are seen in the left eye." "59y6m" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular dystrophy with cuticular dursen" "" "0000255401" "04214" "00359996" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255402" "04214" "00359997" "04036" "Familial, autosomal dominant" "" "Widespread retinal degeneration with more pronounced pericential component; visual acuity: OD = 20/50, OS = 20/25." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255403" "04214" "00359998" "04036" "Familial, autosomal dominant" "" "No opthalmic abnormalities; visual acuity: OD = 20/25, OS = 20/20." "" "" "" "" "" "" "" "" "" "" "" "0000255404" "04214" "00359999" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity OD = 20/40, OS = 20/25" "45y" "" "Blurred distance vision" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255405" "04214" "00360000" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255406" "04214" "00360001" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/32. ERG = not determined." "42y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255407" "04214" "00360002" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/60-2, OS = 20/100+. Slit-lamp biomicroscopy: 1+ cortical changes and nuclear sclerosis in each eye. Amsler grid testing: OS = a central distortion. Dilated fundus examination: subfoveal choroidal neovascularization with surrounding hemorrhage and lipid in the right eye and geographic atrophy involving the center of the macula of the left eye." "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255408" "04214" "00360003" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/30- OS = 20/400. Slit-lamp biomicroscopy: 1+ nuclear sclerosis in each eye. Amsler grid testing: central distortion in the right eye and a large central scotoma in the left eye. Dilated fundus examination: subfoveal choroidal neovascularization with surrounding hemorrhage and lipid in the right eye and and a laser photocoagulation scar involving the center of the macula of the left eye." "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255409" "04214" "00360004" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/200, OS = 20/30 (+2)." "31y-40y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255410" "04214" "00360005" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/60 (-2), OS = 20/100" "31y-40y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255411" "04214" "00360006" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/40, OS = 20/50" "31y-40y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255412" "04214" "00360007" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/400, OS = 20/30" "31y-40y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255413" "04214" "00360008" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/30, OS = 20/400" "31y-40y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255414" "04214" "00360009" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/20, OS = 20/20" "" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255415" "04214" "00360010" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/20, OS = 20/20" "" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255416" "04214" "00360011" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/20, OS = 20/20" "" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255417" "04214" "00360012" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255418" "04214" "00360013" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255419" "04214" "00360014" "04036" "Isolated (sporadic)" "" "adult-onset; visual acuity was measured in worst functioning eye: 20/20." "49y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255420" "04214" "00360015" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000255421" "04214" "00360016" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000255422" "04214" "00360017" "04036" "Familial, autosomal dominant" "" "early-onset" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000255423" "04214" "00360018" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255424" "04214" "00360019" "04036" "Familial, autosomal dominant" "" "ERG: Scotopic and photopic ERGs showed were significantly reduced. The pattern of these ERGs suggests that rods were more severely affected than cones. The EOG exhibited a significant reduction in light rise." "10y-15y" "" "Reduced night vision" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255425" "04214" "00360020" "04036" "Isolated (sporadic)" "" "visual acuity: OD = 20/20, OS = 20/20. Goldmann visual field testing: mild constriction in both eyes. Fundus: The anterior SEQments were unremarkable, there was bilateral mild optic nerve pallor and retinal vascular attenuation. Rare isolated creamy retinal white dots were visible in the posterior pole." "44y" "" "Slow onset of nyctalopia and mild decrease in peripheral vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255426" "04214" "00360021" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/200, OS = and 1/200 left eye. Biomicroscopy: clear lenses, but marked bilateral synchisis scintillans of the vitreous. Fundus: optic atrophy, moderate vessel attenuation, and confluent RPE atrophy with some choroidal sclerosis extending from the posterior poles to the midperiphery The foveola of the right eye was spared, where a tiny patch of hyperpigmented RPE could be seen. Within the atrophic RPE zones some bone spicule-like or clumpy pigmentations as well as single whitish flecks were found. Kinetic perimetry: a large central scotoma (left eye) and a ring scotoma (right eye). Outer visual field borders were normal. On two colour dark adapted threshold perimetry of the right eye, a regional degenerative pattern of both rods and cones was exhibited." "11y-20y" "" "Visual problems in mesopic environment and increased glare sensitivity" "" "" "" "" "" "" "pseudo-Stargardt disease / fundus flavimaculatus" "" "0000255427" "04214" "00360022" "04036" "Familial, autosomal dominant" "" "visual acuity: 25/20 in both eyes. Biomicroscopy: clear lenses. Fundus: the optic discs and the retinal vessels appeared normal. However, multiple yellow-white, medium-sharp defined deposits varying in shape and size within the RPE layer. Large pisciform plaques were partially invading the foveae. Smaller round deposits were scattered in the paramacular areas. In several posterior midperipheral regions small linear flecks in a reticular pattern. Unlike his father, no bone spicule pigmentations were seen. Fluorescein angiography: in right eye multiple hyperfluorescent spots appeared in the posterior pole, sparing only the fovea. This is characteristic of RPE defects. Farnsworth D15 test: mild tritanomaly in both eyes. Static perimetry: scattered paracentral scotoma in the inferior fields of both eyes." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease / fundus flavimaculatus" "" "0000255428" "04214" "00360023" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/50, OS = 20/50. Fundus: Slightlypale discs, narrowing of the vessels, central atrophic changes and central aswell as mid-peripheral pigment mottling." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255429" "04214" "00360024" "04036" "Familial, autosomal dominant" "" "atypical phenotype; visual acuity: OD = 20/20, OS = 20/25. Fundus: degenerative changes mainly in the macularregion." "" "" "" "" "" "" "" "" "" "atypical" "" "0000255430" "04214" "00360025" "04036" "Isolated (sporadic)" "" "ERGs: subnormal. visual acuity: 20/60 in both eyes." "45y" "" "" "" "" "" "" "" "" "diffuse macular dystrophy" "" "0000255431" "04214" "00360026" "04036" "Familial, autosomal dominant" "" "adult-onset; ERGs: normal." "36y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255432" "04214" "00360027" "04036" "Familial, autosomal dominant" "" "adult-onset; ERGs: normal." "45y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255433" "04214" "00360028" "04036" "Familial, autosomal dominant" "" "adult-onset; Fundus: Bilateral symmetric grey/yellow oval shaped lesions. Metamorphosia was observed." "51y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255434" "04214" "00360029" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255435" "04214" "00360030" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255436" "04214" "00360031" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255437" "04214" "00360032" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255438" "04214" "00360033" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255439" "04214" "00360034" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255440" "04214" "00360035" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255441" "04214" "00360036" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255442" "04214" "00360037" "04036" "Familial, autosomal recessive" "" "Examination revealed photophilia, low-amplitude high-frequency variable nystagmus, and a small angle esotropia. Cycloplegic retinoscopy was +6.00 in each eye. Fundus examination was normal. ERG performed under chloral hydrate sedation was non-recordable. Due to the young age of the patients, clinical characterizations of the phenotype were made in the partents." "<1y" "" "Poor fixation and nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255443" "04214" "00360038" "04036" "Familial, autosomal recessive" "" "Examination revealed photophilia, low-amplitude high-frequency variable nystagmus, and a small angle esotropia. Cycloplegic retinoscopy was +6.00 in each eye. Fundus examination was normal. ERG performed under chloral hydrate sedation was non-recordable. Due to the young age of the patients, clinical characterizations of the phenotype were made in the partents." "<1y" "" "Poor fixation and nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255444" "04214" "00360039" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: 20/32 in the right eye, 20/25 in the left eye. Visual field testing: Small central scotoma. ffERG: Normal" "56y" "" "Metamorphopsia followed by central vision loss" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255445" "04214" "00360040" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: 20/25 in both eyes. Visual field testing: Normal. ffERG: Normal" "51y" "" "Metamorphopsia" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255446" "04214" "00360041" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: 20/25 in both eyes. Visual field testing: Normal. ffERG: Normal" "46y" "" "Metamorphopsia" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000255447" "04214" "00360042" "04036" "Familial, autosomal dominant" "" "visual acuity: 20/50 in the right eye, 20/40 in left eye. Visual field testing: Large central scotoma. Ff ERG: Scotopic and photopic subnormal 0 dB b-wave amplitude = 152 μV in the right eye and 182 μV in left eye; photopic = 22 μV in right eye/28 μV in left eye" "52y" "" "Loss of peripheral visual field" "" "" "" "" "" "" "extensive cone-rod atrophy" "" "0000255448" "04214" "00360043" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG = not determined." "42y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255449" "04214" "00360044" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG = abnormal." "42y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255450" "04214" "00360045" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/500. ERG = abnormal." "46y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255451" "04214" "00360046" "04036" "Familial, autosomal dominant" "" "The affected individuals revealed features of RP. Night blindness occurred during their adolescent period." "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255452" "04214" "00360047" "04036" "Familial, autosomal dominant" "" "The affected individuals revealed features of RP. Night blindness occurred during their adolescent period." "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255453" "04214" "00360048" "04036" "Familial, autosomal dominant" "" "The affected individuals revealed features of RP. Night blindness occurred during their adolescent period." "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255454" "04214" "00360049" "04036" "Familial, autosomal dominant" "" "The affected individuals revealed features of RP. Night blindness occurred during their adolescent period." "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255455" "04214" "00360050" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/20. ERG = abnormal" "40y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255456" "04214" "00360051" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/25. ERG = not determined" "7y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255457" "04214" "00360052" "04036" "Unknown" "" "RPH2/RDS-positive patients can present with few or numerous flecks exhibiting a high or," "" "" "" "" "" "" "" "" "" "pattern dystrophy/pseudo-Stargardt disease" "" "0000255458" "04214" "00360053" "04036" "Unknown" "" "RPH2/RDS-positive patients can present with few or numerous flecks exhibiting a high or," "" "" "" "" "" "" "" "" "" "pattern dystrophy/pseudo-Stargardt disease" "" "0000255459" "04214" "00360054" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: extensive atrophy of posterior pole, mid‐peripheral yellowish flecks. visual acuity: OD = 0.017, OS = 0.0033" "70y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255460" "04214" "00360055" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: macular pattern dystrophy changes, non‐confluent STGD1‐like flecks around vascular arcades. visual acuity: OD = 0.9, OS = 1.0." "" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255461" "04214" "00360056" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: Macular pattern dystrophy changes, STGD1‐like flecks around vascular arcades with incipient confluence. visual acuity: OD = 1.2, OS = 1.2." "56y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255462" "04214" "00360057" "04036" "Familial, autosomal dominant" "" "Fundus: Atrophic confluence of yellow‐white lesions, surrounded by STGD1‐like lesions. Peripheral retina: Discrete mid‐peripheral granular pigmentary changes" "47y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255463" "04214" "00360058" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000255464" "04214" "00360059" "04036" "Familial, autosomal dominant" "" "Widespread retinal degeneration with more pronounced pericential component; visual acuity: OD = 20/30, OS = 20/50 ." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255465" "04214" "00360060" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/200." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255466" "04214" "00360061" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/60, OS = 20/20." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255467" "04214" "00360062" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/25, OS = 20/25." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255468" "04214" "00360063" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255469" "04214" "00360064" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255470" "04214" "00360065" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255471" "04214" "00360066" "04036" "Familial, autosomal dominant" "" "ERG results in heterozygotes with the G68R,variant indicate relatively equal loss of rod and cone amplitudes." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255472" "04214" "00360067" "04036" "Familial, autosomal dominant" "" "Macular alteration, parafoveal loss of autofluorescence." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255473" "04214" "00360068" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255474" "04214" "00360069" "04036" "Familial, autosomal dominant" "" "" "25y" "" "Nightblindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255475" "04214" "00360070" "04036" "Unknown" "" "visual acuity: OD = 20/40 , OS = 20/70. ERG: normal" "50y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255476" "04214" "00360071" "04036" "Familial, autosomal dominant" "" "" "31y-50y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255477" "04214" "00360072" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular pattern dystrophy" "" "0000255478" "04214" "00360073" "04036" "Unknown" "" "visual acuity: OD = 20/20 , OS = 20/20. ERG: not determined" "53y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255479" "04214" "00360074" "04036" "Unknown" "" "visual acuity: OD = 20/20 , OS = 20/15. ERG: not determined" "36y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255480" "04214" "00360075" "04036" "Familial, autosomal dominant" "" "Fundus examination: confluent areas of macular hypopigmentation associated with pigment clumping in their centers. Fundus autofluorescence: discrete parafoveal areas of increased AF, which did not correspond to the changes visible on ophthalmoscopy." "45y" "" "Increasing visual distortion" "" "" "" "" "" "" "macular dystrophy" "" "0000255481" "04214" "00360076" "04036" "Familial, autosomal dominant" "" "No clinical characterization" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255482" "04214" "00360077" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255483" "04214" "00360078" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255484" "04214" "00360079" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255485" "04214" "00360080" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255486" "04214" "00360081" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255487" "04214" "00360082" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "reticular shaped pattern dystrophy" "" "0000255488" "04214" "00360083" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255489" "04214" "00360084" "04036" "Familial, autosomal dominant" "" "Multiple, symmetric, one third disk diameter size, slightly elevated, yellow orange subretinal lesions in the paracentral and central region with a central pigmented spot in each eye. visual acuity was 20/50 in 1 eye and 20/33 in 3 eyes, with symptoms of blurring, metamorphopsia, and glare." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "vitelliform patern dystrophy" "" "0000255490" "04214" "00360085" "04036" "Familial, autosomal dominant" "" "Multiple, symmetric, one third disk diameter size, slightly elevated, yellow orange subretinal lesions in the paracentral and central region with a central pigmented spot in each eye. visual acuity was 20/50 in 1 eye and 20/33 in 3 eyes, with symptoms of blurring, metamorphopsia, and glare." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "vitelliform patern dystrophy" "" "0000255491" "04214" "00360086" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255492" "04214" "00360087" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255493" "04214" "00360088" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255494" "04214" "00360089" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255495" "04214" "00360090" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255496" "04214" "00360091" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255497" "04214" "00360092" "04036" "Familial, autosomal dominant" "" "beginning; Characterized by small yellow perifoveolar deposits in one eye." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "pattern dystrophy" "" "0000255498" "04214" "00360093" "04036" "Familial, autosomal dominant" "" "beginning; Characterized by small yellow perifoveolar deposits in one eye." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "pattern dystrophy" "" "0000255499" "04214" "00360094" "04036" "Familial, autosomal dominant" "" "visual acuity was between 20/40 and 20/20. Yellow pigment was arranged in an organized triradiate pattern confined to the center of the macula in a symmetric fashion. A zone of depigmentation occurred around the pigment figure." "" "" "Distinct glare some years before visual deterioration" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255500" "04214" "00360095" "04036" "Familial, autosomal dominant" "" "RPH2/RDS-positive patients can present with few or numerous flecks exhibiting a high or, once resorbed, low AF signal." "" "" "" "" "" "" "" "" "" "pattern dystrophy/pseudo-Stargardt disease" "" "0000255501" "04214" "00360096" "04036" "Familial, autosomal dominant" "" "RPH2/RDS-positive patients can present with few or numerous flecks exhibiting a high or, once resorbed, low AF signal." "" "" "" "" "" "" "" "" "" "pattern dystrophy/pseudo-Stargardt disease" "" "0000255502" "04214" "00360097" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision. Occasionally, the pattern will appear in the shape of a butterfly." "46y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255503" "04214" "00360098" "04036" "Unknown" "" "visual acuity: OD = 20/40 , OS = 20/20 . ERG: Not determined." "53y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255504" "04214" "00360099" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255505" "04214" "00360100" "04036" "Familial, autosomal dominant" "" "Fundus: perifoveal pigment epithelial abnormalities, with widespread intraretinal or subretinal white flecks extending to just beyond the vascular temporal arcades and nasal to the optic disc. Fluorescein angiography: perifoveolar window defects." "" "" "" "" "" "" "" "" "" "Stargardt‐like macular dystrophy" "" "0000255506" "04214" "00360101" "04036" "Familial, autosomal dominant" "" "Fundus: Vitelliform-like pigment epithelial abnormalities. Autofluorescence: flavimaculatus-type lesions. Fluorescein angiography: foveal window defects, with limited staining of some of the white fundus flecks in both eyes and a dark choroid." "29y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255507" "04214" "00360102" "04036" "Familial, autosomal dominant" "" "Fundus: normal central macula, but outer retinal atrophy with spicular intraretinal pigment migration in the mid-periphery, vessel attenuation and disc pallor. Goldmann perimetry: typical mid-peripheral scotomata with preservation of central sensitivity. Colour vision was normal." "17y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255508" "04214" "00360103" "04036" "Familial, autosomal dominant" "" "juvenile; Viisual acuity: OD = 20/40, OS = 20/40. Macular lesion: OD = Vitellin 0.75 DA OS = Scrambled egg 0.75 DA." "40y" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255509" "04214" "00360104" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/25, OS = 20/400. Macular lesion: OD = Vitellin ½ DA OS = Retinal detachment." "55y" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255510" "04214" "00360105" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255511" "04214" "00360106" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular pattern dystrophy" "" "0000255512" "04214" "00360107" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/40. ERG: Normal" "44y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255513" "04214" "00360108" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255514" "04214" "00360109" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision. Occasionally, the pattern will appear in the shape of a butterfly." "46y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255515" "04214" "00360110" "04036" "Unknown" "" "visual acuity: OD = 20/40 , OS = 20/20 . ERG: Not determined." "53y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255516" "04214" "00360111" "04036" "Unknown" "" "visual acuity: OD = 20/25 , OS = 20/30 . ERG: Abnormal" "51y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255517" "04214" "00360112" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.2, OS = 1.2. Refractive error: OD = not correctable, OS = not correctable." "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255518" "04214" "00360113" "04036" "Familial, autosomal dominant" "" "Night vision loss early in second decade of life, and peripheral visual fields shortly after that. Central visual acuity remained good untill late in third decade of life. By the early 20s, funfus showed diffuse peripheral changes, but macula appeared normal. There was no pigment accumulation untill fourth decade of life. Attenuation of retinal vessels and palor of optic disc was not present untill later in life. Each affected member showed similar patterns of functional deficit." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255519" "04214" "00360114" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/12, OS = 6/12. Central sensitivities were within 2 log units of normal. Cone function was detectable throughout the visual field." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255520" "04214" "00360115" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/9, OS = 6/9. Central sensitivities was within 2 log units of normal." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255521" "04214" "00360116" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/18, OS = 6/9. Cone and rod thresholds were elevated by 2 and 3-5 log units respectively." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255522" "04214" "00360117" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/9, OS = 6/12. Central sensitivities was within 2 log units of normal. Cone function was detectable throughout the visual field." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255523" "04214" "00360118" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255524" "04214" "00360119" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255525" "04214" "00360120" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255526" "04214" "00360121" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255527" "04214" "00360122" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255528" "04214" "00360123" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255529" "04214" "00360124" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255530" "04214" "00360125" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255531" "04214" "00360126" "04036" "Familial, autosomal dominant" "" "Patients experienced diffuculties with night vision in their early 20s. Lateer in life, loss of peripheral fields occured. ERGs from these affected patients showed abnormal rod-isolated responses even in young affected individuals in their early teens. Cone responses, in these younger patients were greatly reduced. However, cone activity was detectable in all affected family members." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255532" "04214" "00360127" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.4, OS = 0.6 . Viual field testing: Central scotoma present." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255533" "04214" "00360128" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.5, OS = 0.5. Visual field testing: Central scotoma was present." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255534" "04214" "00360129" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255535" "04214" "00360130" "04036" "Familial, autosomal dominant" "" "visual acuity (last measured): OD = 0.3, OS = 0.016" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255536" "04214" "00360131" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/200, OS = counting fingers. Fundus: moderate cataract in his left eye. In previous records, a yellowish atrophy at the maculararea was observed. At the momnet , he presented clinical signs of central areolarchoroidal dystrophy." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255537" "04214" "00360132" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/25, OS = 20/20. Fundus: Both fundiwere affected with vitelliform deposits and pigmentary changes in the macular area." "" "" "" "" "" "" "" "" "" "vitelliform maculopathy" "" "0000255538" "04214" "00360133" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255539" "04214" "00360134" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255540" "04214" "00360135" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255541" "04214" "00360136" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 0.6" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255542" "04214" "00360137" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255543" "04214" "00360138" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255544" "04214" "00360139" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255545" "04214" "00360140" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255546" "04214" "00360141" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255547" "04214" "00360142" "04036" "Isolated (sporadic)" "" "visual acuity: OD = No light perception, OS = 0,4. ERG: extinguished" "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255548" "04214" "00360143" "04036" "Unknown" "" "visual acuity: OD = 20/500 , OS = 20/800. ERG: abnormal" "8y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255549" "04214" "00360144" "04036" "Unknown" "" "visual acuity: OD = 20/400 , OS = 20/320. ERG: abnormal" "8y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255550" "04214" "00360145" "04036" "Unknown" "" "visual acuity: OD = 20/160 , OS = 20/160 . ERG:Normal" "16y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255551" "04214" "00360146" "04036" "Familial, autosomal dominant" "" "Moderate loss of color vision (Ishihara 7/15 dex and 8/15 sin). Typical signs of RP, including of night vision loss and constricted visual fields." "30y" "" "Nyctalopia" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255552" "04214" "00360147" "04036" "Familial, autosomal dominant" "" "Normal visual acuity. Typical signs of RP, including of night vision loss and constricted visual fields." "45y" "" "Nyctalopia" "" "" "" "" "" "" "Usher syndrome" "" "0000255553" "04214" "00360148" "04036" "Familial, autosomal dominant" "" "Normal visual acuity. Typical signs of RP, including of night vision loss and constricted visual fields." "26y" "" "Nyctalopia" "" "" "" "" "" "" "Usher syndrome" "" "0000255554" "04214" "00360149" "04036" "Familial, autosomal dominant" "" "Normal visual acuity. Typical signs of RP, including of night vision loss and constricted visual fields." "15y" "" "Nyctalopia" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255555" "04214" "00360150" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255556" "04214" "00360151" "04036" "Unknown" "" "visual acuity: OD = 20/32 , OS = 20/63 . ERG: abnormal" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255557" "04214" "00360152" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers , OS = 20/125. ERG: abnormal" "50y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255558" "04214" "00360153" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/25 , OS = 20/25 . ERG: Not determined" "11y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255559" "04214" "00360154" "04036" "Unknown" "" "visual acuity: OD = 20/25 , OS = 20/25 . ERG: abnormal" "31y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255560" "04214" "00360155" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20 . ERG: Not determined" "41y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255561" "04214" "00360156" "04036" "Unknown" "" "visual acuity: OD = 20/12,5, OS = 20/20 . ERG: Not determined" "36y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255562" "04214" "00360157" "04036" "Unknown" "" "visual acuity: OD = 20/200, OS = 20/70 . ERG: abnormal" "40y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255563" "04214" "00360158" "04036" "Familial, autosomal dominant" "" "Fundus examination revealed coalescent areas of outer retina/retinal pigment epithelium atrophy in both maculae. Fundus autofluorescence showed speckled hypoautofluorescence over much of the posterior pole bilaterally with occasional hyperautofluorescence. Optical coherence tomography showed loss of outer retinal structure in both maculae." "5y" "" "Hyperopic astigmatism" "" "" "" "" "" "" "macular dystrophy" "" "0000255564" "04214" "00360159" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/30. ERG: Not performed" "46y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255565" "04214" "00360160" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "multiplex retinitis pigmentosa" "" "0000255566" "04214" "00360161" "04036" "Familial, autosomal dominant" "" "visual acuity: In both eyes, visual acuity declined from 20/20 to 20/50. Further examination revealed choroidal neovascularization and cystoid macular oedema." "" "" "Metamorphopsia" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255567" "04214" "00360162" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000255568" "04214" "00360163" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000255569" "04214" "00360164" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255570" "04214" "00360165" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255571" "04214" "00360166" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255572" "04214" "00360167" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/60, OS = counting fingers. Fundus: 4+ yellow deposits and pigmentary change in right eye. Disciform scar observed in left eye" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255573" "04214" "00360168" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/40. Fundus: Absent foveal reflex in both eyes" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255574" "04214" "00360169" "04036" "Familial, autosomal dominant" "" "visual acuity: OD =20/20, OS = 20/20. Fundus: 1+ yellow deposits O1443in both eyes." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255575" "04214" "00360170" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/200, OS = 20/20. Fundus: Discform scar in right eye, and 2+ yellow deposits and pigmentary change and dark choroid in left eye." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255576" "04214" "00360171" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Fundus: 4+ yellow deposits and pigmentary change and dark choroid in both eyes." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255577" "04214" "00360172" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/15, OS = 20/15." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255578" "04214" "00360173" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255579" "04214" "00360174" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255580" "04214" "00360175" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255581" "04214" "00360176" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255582" "04214" "00360177" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255583" "04214" "00360178" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255584" "04214" "00360179" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255585" "04214" "00360180" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255586" "04214" "00360181" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255587" "04214" "00360182" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255588" "04214" "00360183" "04036" "Familial, autosomal dominant" "" "adult-onset; Fundus: Yellowish lesions at both macullae observed. Additionally, atrophy and destructuration of RPE was present in both eyes." "40y" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255589" "04214" "00360184" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Fundus: Yellow, subretinal depigmented lesions in fovea were observed." "" "" "Patient says he has no visual complaints" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255590" "04214" "00360185" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/25, OS = 20/25. Fundus: Yellow, subretinal depigmented lesions in fovea were observed." "" "" "Patient says he has no visual complaints" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255591" "04214" "00360186" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Fundus: Yellow, subretinal depigmented lesions in fovea were observed." "" "" "Patient says he has no visual complaints" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255592" "04214" "00360187" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Fundus: Yellow, subretinal depigmented lesions in fovea were observed." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255593" "04214" "00360188" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/400, OS = 20/40. Fundus: Foveal GA (OD); parafoveal GA (OS)" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255594" "04214" "00360189" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/30, OS = 20/30. Fundus: Central, subretinal hypopigmented lesion" "" "" "Difficulty with bright lights at night" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255595" "04214" "00360190" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/40, OS = 20/20. Fundus: Subfoveal CNV (OD); atrophic changes with RPE mottling (OS)" "" "" "Diminished visual acuity in the right eye" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255596" "04214" "00360191" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/25, OS = 20/25. Fundus: Central, subretinal hypopigmented lesions were observed" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255597" "04214" "00360192" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/25, OS = 20/20. Fundus: Central, subretinal hypopigmented lesions were observed" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255598" "04214" "00360193" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD =20/20, OS = 20/20 . Fundus: Subfoveal bull’s-eye RPE changes were observed" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255599" "04214" "00360194" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/40, OS = 20/20. Fundus: Central, subretinal hypopigmented lesion was observed" "41y" "" "Complaints of visual distortion at night" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255600" "04214" "00360195" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/20, OS = 20/20. Fundus:Central, subretina hypopigmented lesion" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255601" "04214" "00360196" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255602" "04214" "00360197" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255603" "04214" "00360198" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255604" "04214" "00360199" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/20, OS = 20/20. Fundus: Central, subretina hypopigmented lesions were observed" "46y" "" "Complaints of metamorphopsiain both eyes" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255605" "04214" "00360200" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255606" "04214" "00360201" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255607" "04214" "00360202" "04036" "Familial, autosomal dominant" "" "The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255608" "04214" "00360203" "04036" "Familial, autosomal dominant" "" "The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255609" "04214" "00360204" "04036" "Familial, autosomal dominant" "" "The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255610" "04214" "00360205" "04036" "Familial, autosomal dominant" "" "The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255611" "04214" "00360206" "04036" "Familial, autosomal dominant" "" "The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255612" "04214" "00360207" "04036" "Familial, autosomal dominant" "" "adult-onset; The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000255613" "04214" "00360208" "04036" "Familial, autosomal dominant" "" "The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255614" "04214" "00360209" "04036" "Familial, autosomal dominant" "" "The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255615" "04214" "00360210" "04036" "Familial, autosomal dominant" "" "The subretinal deposits were smaller and more widely spaced than family A carrying the PRPH2 p.Cys250Phe variant ." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255616" "04214" "00360211" "04036" "Familial, autosomal dominant" "" "Best-corrected visual acuity was 0.8 in the RE with a refraction of +1.5 −3 × 180° and 1.0 in the LE with +2 −4 × 175°. Examination of the retina showed foveal, yellow, butterfly-shaped deposits in the RE and a typical central “dot and halo” lesion in the LE as well as some yellow flecks outside the arcades. On AF imaging, the foveal lesion was hyperfluorescent on the right and showed central hypofluorescent area surrounded by hyperfluorescent halo on the left fovea ." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255617" "04214" "00360212" "04036" "Familial, autosomal dominant" "" "Fundus: macular atrophy and many patches of atrophy along and above the arcades and nasal to the disk." "43y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255618" "04214" "00360213" "04036" "Familial, autosomal dominant" "" "Some degree of night blindness for several years. Fundus: normal appearing retina, and the AF imaging was also within normal limits." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255619" "04214" "00360214" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "40y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255620" "04214" "00360215" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255621" "04214" "00360216" "04036" "Familial, autosomal dominant" "" "visual acuity: 20/20 OD, 20/25 OS. Fundus: macular degeneration on examination." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255622" "04214" "00360217" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255623" "04214" "00360218" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255624" "04214" "00360219" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255625" "04214" "00360220" "04036" "Unknown" "" "visual acuity: OD = 20/20 , OS = 20/20 . ERG: abnormal" "35y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255626" "04214" "00360221" "04036" "Unknown" "" "visual acuity: OD = 20/125, OS = 20/1000 . ERG: abnormal." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255627" "04214" "00360222" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/13. ERG: abnormal" "42y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255628" "04214" "00360223" "04036" "Unknown" "" "visual acuity: OD = hand movement, OS = 20/20. ERG: Abnormal" "63y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255629" "04214" "00360224" "04036" "Unknown" "" "visual acuity: OD = 20/63, OS = 20/600 . ERG: abnormal" "65y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255630" "04214" "00360225" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/15 . ERG: abnormal" "40y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255631" "04214" "00360226" "04036" "Unknown" "" "visual acuity: OD = 20/250, OS = 20/32. ERG: Not performed" "47y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255632" "04214" "00360227" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/30. ERG: abnormal" "50y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255633" "04214" "00360228" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/40. ERG: Not performed" "36y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255634" "04214" "00360229" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/25. ERG: abnormal" "47y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255635" "04214" "00360230" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/30. ERG: Not performed" "41y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255636" "04214" "00360231" "04036" "Unknown" "" "visual acuity: OD = 20/80, OS = 20/16. ERG: Not performed" "44y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255637" "04214" "00360232" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG: Not performed" "20y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255638" "04214" "00360233" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/25 . ERG: Normal" "47y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255639" "04214" "00360234" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255640" "04214" "00360235" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease / central areolar choroidal dystrophy" "" "0000255641" "04214" "00360236" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255642" "04214" "00360237" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255643" "04214" "00360238" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255644" "04214" "00360239" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255645" "04214" "00360240" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255646" "04214" "00360241" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000255647" "04214" "00360242" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255648" "04214" "00360243" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255649" "04214" "00360244" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255650" "04214" "00360245" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255651" "04214" "00360246" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255652" "04214" "00360247" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255653" "04214" "00360248" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255654" "04214" "00360249" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255655" "04214" "00360250" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255656" "04214" "00360251" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255657" "04214" "00360252" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255658" "04214" "00360253" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255659" "04214" "00360254" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255660" "04214" "00360255" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255661" "04214" "00360256" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255662" "04214" "00360257" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255663" "04214" "00360258" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255664" "04214" "00360259" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255665" "04214" "00360260" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255666" "04214" "00360261" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255667" "04214" "00360262" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255668" "04214" "00360263" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255669" "04214" "00360264" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255670" "04214" "00360265" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255671" "04214" "00360266" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255672" "04214" "00360267" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255673" "04214" "00360268" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255674" "04214" "00360269" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255675" "04214" "00360270" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255676" "04214" "00360271" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255677" "04214" "00360272" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255678" "04214" "00360273" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255679" "04214" "00360274" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage III CACD" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255680" "04214" "00360275" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage II CACD, OS = Stage IV CACD." "37y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255681" "04214" "00360276" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Normal" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255682" "04214" "00360277" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage II CACD" "47y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255683" "04214" "00360278" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage III CACD" "55y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255684" "04214" "00360279" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage III CACD" "49y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255685" "04214" "00360280" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage IV CACD" "31y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255686" "04214" "00360281" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage IV CACD" "50y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255687" "04214" "00360282" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage III CACD" "25y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255688" "04214" "00360283" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage III CACD" "54y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255689" "04214" "00360284" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage III CACD" "52y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255690" "04214" "00360285" "04036" "Familial, autosomal dominant" "" "Fundus: OD = Stage III CACD" "43y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255691" "04214" "00360286" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255692" "04214" "00360287" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255693" "04214" "00360288" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255694" "04214" "00360289" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.5 OS = counting fingers. Funduscopy: Atrophy of the RPE in the posterior pole. Numerous drusen in this region, centrally the drusen are larger." "40y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255695" "04214" "00360290" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers OS = 0.16. Funduscopy: Atrophy of the RPE in the posterior pole. Fewer drusen compared with her twin sister II-10, the more centrally located drusen are larger." "43y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255696" "04214" "00360291" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.5 OS = 0.5. Funduscopy: The area of atrophy of the RPE is smaller compared with II-10 and II-11. Only a few drusen." "60y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255697" "04214" "00360292" "04036" "Familial, autosomal dominant" "" "asymptomatic; visual acuity: OD = 20/30, OS = 20/30. EOG: Normal. PERG: Decreased." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255698" "04214" "00360293" "04036" "Familial, autosomal dominant" "" "asymptomatic; visual acuity: OD = 20/30, OS = 20/30. EOG: Normal. PERG: Not performed." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255699" "04214" "00360294" "04036" "Familial, autosomal dominant" "" "asymptomatic; asymptomatic; Central macular abnormalities. Right eye fundus appearance shows central macula pigmentary changes right eye autofluorescence shows central macula points of increased and decreased sign; right eye optical coherence tomography horizontal section shows thickening of the ellipsoid zone centrally and corresponding loss of the outer SEQments; more peripherally there is outer nuclear layer thinning; centrally an area of increased signal just posterior to the retinal pigment epithelium can be appreciated; left eye fundus appearance shows central macula pigmentary changes;" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255700" "04214" "00360295" "04036" "Familial, autosomal dominant" "" "asymptomatic; visual acuity: OD =20/30, OS = 20/30. EOG: Normal. PERG: Decreased" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255701" "04214" "00360296" "04036" "Familial, autosomal dominant" "" "childhood onset; visual acuity: OD = 7/10, OS = 1/10. Geographic atrophy Poor night vision since childhood" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255702" "04214" "00360297" "04036" "Familial, autosomal dominant" "" "asymptomatic; asymptomatic but fundus showed detectable maculopathy phenotypes; visual acuity: OD = 20/20, OS = 20/20" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255703" "04214" "00360298" "04036" "Familial, autosomal dominant" "" "asymptomatic; visual acuity: OD = 20/30, OS = 20/30. EOG: Normal. PERG: Absent." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255704" "04214" "00360299" "04036" "Familial, autosomal dominant" "" "asymptomatic; asymptomatic but fundus showed detectable maculopathy phenotypes; Not clinically examined" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255705" "04214" "00360300" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8 OS = 0.8. Funduscopy: Irregular atrophy of the RPE surrounding the fovea. A few small drusen." "35y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255706" "04214" "00360301" "04036" "Familial, autosomal dominant" "" "asymptomatic; asymptomatic; Central macular abnormalities: Right eye fundus appearance and right eye autofluorescence are normal; right eye optical coherence tomography horizontal section shows thickening of the ellipsoid zone centrally and corresponding loss of the outer SEQments; left eye fundus appearance is normal." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255707" "04214" "00360302" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers OS = 0.1. Funduscopy: Severe atrophy of the retinal pigment epithelium. A few drusen, most noticeable in the right eye" "52y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255708" "04214" "00360303" "04036" "Familial, autosomal dominant" "" "visual acuity: OD &OS = counting fingers. Funduscopy: Central atrophy of the retinal pigment epithelium, no drusen" "43y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255709" "04214" "00360304" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8 OS = 0.6. Funduscopy: Atrophy of the pigment epithelium in the posterior pole. Numerous drusen" "38y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255710" "04214" "00360305" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.6 OS = 0.6. Funduscopy: Mild atrophy of the retinal pigment epithelium. Numerous drusen" "53y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255711" "04214" "00360306" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8 OS = 0.8 . Funduscopy: Small drusen located near the fovea, mild chorioretinal atrophy" "52y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255712" "04214" "00360307" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8 OS = 0.5. Funduscopy: Small drusen located near the fovea, chorioretinal atrophy is more pronounced than in II-1" "43y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255713" "04214" "00360308" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.1 OS = 0.05. Funduscopy: Large oval area of chorioretinal atrophy in the posterior pole surrounded by numerous drusen" "32y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255714" "04214" "00360309" "04036" "Familial, autosomal dominant" "" "Macula: Subretinian yellowish spots at macullae. RPE destructuration and atrophy was also observed" "35y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255715" "04214" "00360310" "04036" "Familial, autosomal dominant" "" "Macula: CACD pheotype" "37y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255716" "04214" "00360311" "04036" "Familial, autosomal dominant" "" "Macula: CACD pheotype" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255717" "04214" "00360312" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.6 , OS = 1.0. Visual field testing: Central scotoma present in both eyes" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255718" "04214" "00360313" "04036" "Familial, autosomal dominant" "" "Not clinically affected at the time" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255719" "04214" "00360314" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0.025." "44y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255720" "04214" "00360315" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255721" "04214" "00360316" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255722" "04214" "00360317" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255723" "04214" "00360318" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255724" "04214" "00360319" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255725" "04214" "00360320" "04036" "Familial, autosomal dominant" "" "Not clinically affected at the time" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255726" "04214" "00360321" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.025 (trauma), OS = 0.8." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255727" "04214" "00360322" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0.8." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255728" "04214" "00360323" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255729" "04214" "00360324" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "48y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255730" "04214" "00360325" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 0.8." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255731" "04214" "00360326" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255732" "04214" "00360327" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255733" "04214" "00360328" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255734" "04214" "00360329" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255735" "04214" "00360330" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.0167, OS = 0.1." "39y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255736" "04214" "00360331" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0.9." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255737" "04214" "00360332" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.9, OS = 0.6." "45y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255738" "04214" "00360333" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255739" "04214" "00360334" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255740" "04214" "00360335" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255741" "04214" "00360336" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255742" "04214" "00360337" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255743" "04214" "00360338" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255744" "04214" "00360339" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255745" "04214" "00360340" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255746" "04214" "00360341" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255747" "04214" "00360342" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255748" "04214" "00360343" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255749" "04214" "00360344" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255750" "04214" "00360345" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255751" "04214" "00360346" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255752" "04214" "00360347" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255753" "04214" "00360348" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255754" "04214" "00360349" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255755" "04214" "00360350" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255756" "04214" "00360351" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255757" "04214" "00360352" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255758" "04214" "00360353" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255759" "04214" "00360354" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255760" "04214" "00360355" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255761" "04214" "00360356" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255762" "04214" "00360357" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255763" "04214" "00360358" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255764" "04214" "00360359" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255765" "04214" "00360360" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255766" "04214" "00360361" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255767" "04214" "00360362" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255768" "04214" "00360363" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255769" "04214" "00360364" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255770" "04214" "00360365" "04036" "Familial, autosomal dominant" "67y" "Fundus: geographic atrophy with foveal sparing surrounded by drusen." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255771" "04214" "00360366" "04036" "Familial, autosomal dominant" "64y" "central geographic atrophy (central atrophy in both eyes secondary to CACD)" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255772" "04214" "00360367" "04036" "Familial, autosomal dominant" "76y" "extensive central geographic atrophy and peripapillary atrophy" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255773" "04214" "00360368" "04036" "Unknown" "" "visual acuity: OD = 20/400 , OS = counting fingers. ERG: Not performed" "60y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255774" "04214" "00360369" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/20. ERG: Not performed" "57y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255775" "04214" "00360370" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/20. ERG: Abnormal" "41y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255776" "04214" "00360371" "04036" "Unknown" "" "visual acuity: OD = 20/600 , OS = 20/40. ERG: Abnormal" "44y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255777" "04214" "00360372" "04036" "Unknown" "" "visual acuity: OD = 20/60, OS = 20/25. ERG: Abnormal" "59y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255778" "04214" "00360373" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000255779" "04214" "00360374" "04036" "Unknown" "" "visual acuity: OS = 20/32, OD = 20/40. ERG: Not performed." "60y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255780" "04214" "00360375" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255781" "04214" "00360376" "04036" "Familial, autosomal dominant" "" "Fundus: three pigmented spots with a depigmented border in the macula, corresponding ro a “dot and halo” aspect on the fluorescein angiogram (age 35)." "35y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255782" "04214" "00360377" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255783" "04214" "00360378" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255784" "04214" "00360379" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255785" "04214" "00360380" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255786" "04214" "00360381" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255787" "04214" "00360382" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255788" "04214" "00360383" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000255789" "04214" "00360384" "04036" "Familial, autosomal dominant" "" "Macula: Subretinal yellowish round lesions. RPE destructuration and atrophy" "40y-45y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255790" "04214" "00360385" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0,8, OS = 0,9. Retinal phenotype: confluence of STGD1‐like lesions and patches of atrophy in posterior pole, OD slight peripheral pigmentary changes." "" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255791" "04214" "00360386" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0,025. Macula: Extensive chorioretinal atrophy. Retinal phenotype: (Mid‐)peripheral atrophy, bone spicule and paravenous pigmentation, narrow vasculature, temporal paleness of optic disc." "" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255792" "04214" "00360387" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0,9, OS = 0,9. Retinal phenotype: macular pattern dystrophy changes, STGD1‐like flecks around vascular arcades." "" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255793" "04214" "00360388" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1,0, OS = 0,9. Macula: Confluent atrophic yellow‐white lesions, surrounded by STGD1‐like flecks. Retinal phenotype: Peripheral atrophy, reticular pigmentary pattern." "" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255794" "04214" "00360389" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0,2, OS = 0,2. Retinal phenotype: extensive chorioretinal atrophy outside macular area, bone spicule pigmentation, narrow retinal vessels, waxy pale optic disc." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255795" "04214" "00360390" "04036" "Familial, autosomal dominant" "" "Mild foveal changes, diagnosis not clear; visual acuity: OD = 0,6, OS = 0.6. Retinal phenotype: multifocal pattern dystrophy, yellow‐white flecks throughout posterior pole." "" "" "" "" "" "" "" "" "" "" "" "0000255796" "04214" "00360391" "04036" "Familial, autosomal dominant" "" "Mild foveal changes, diagnosis not clear; visual acuity: OD = 1,2, OS = 1,2. Retinal phenotype: discrete foveal pigmentary changes, small yellow–white dots around retinal vascular arcades" "" "" "" "" "" "" "" "" "" "" "" "0000255797" "04214" "00360392" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255798" "04214" "00360393" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255799" "04214" "00360394" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255800" "04214" "00360395" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255801" "04214" "00360396" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255802" "04214" "00360397" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/20. ERG: not performed" "45y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255803" "04214" "00360398" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255804" "04214" "00360399" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "multiplex retinitis pigmentosa" "" "0000255805" "04214" "00360400" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "multiplex retinitis pigmentosa" "" "0000255806" "04214" "00360401" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255807" "04214" "00360402" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255808" "04214" "00360403" "04036" "Familial, autosomal dominant" "" "Fundus. N.A. ERG: Three out of five K153R heterozygotes that were examined, had markedly reduced or nondetectable ERGs." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255809" "04214" "00360404" "04036" "Familial, autosomal dominant" "" "Fundus. N.A. ERG: Three out of five K153R heterozygotes that were examined, had markedly reduced or nondetectable ERGs." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255810" "04214" "00360405" "04036" "Familial, autosomal dominant" "" "Fundus: yellow foveal lesions resembling pattern dystrophy. ERG: Three out of five K153R heterozygotes that were examined, had markedly reduced or nondetectable ERGs." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa-like peripheral retinal changes" "" "0000255811" "04214" "00360406" "04036" "Familial, autosomal dominant" "" "Fundus: Bone spicule-like pigment and atrophic changes throughout the retina and apparent sparing of the macula. ERG: Three out of five K153R heterozygotes that were examined, had markedly reduced or nondetectable ERGs." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255812" "04214" "00360407" "04036" "Familial, autosomal dominant" "" "Fundus: Bone spicule-like pigment and atrophic changes throughout the retina and apparent sparing of the macula. ERG: Three out of five K153R heterozygotes that were examined, had markedly reduced or nondetectable ERGs." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255813" "04214" "00360408" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.6. OS = 0.4 . Perimetry is concentric narrowed" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255814" "04214" "00360409" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/30. ERG: Abnormal" "58y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255815" "04214" "00360410" "04036" "Unknown" "" "visual acuity: OD = light perception, OS = light perception. Patient experienced hyperopia" "6y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255816" "04214" "00360411" "04036" "Unknown" "" "visual acuity: OD = 0,4, OS = 0,3. Refractive error: OD = −8,5, OS = −7.0." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255817" "04214" "00360412" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255818" "04214" "00360413" "04036" "Familial, autosomal dominant" "" "visual acuity : OD = 20/30 OS = 20/50. Fundus: pallor of the optic nerve heads, severe retinal vascular attenuation, and marked loss of pigment epithelium throughout the posterior pole and in a geographic manner in the periphery. Clumps of granular and bone-spicule-shaped pigment were found in peripheral retina. A moderately opacified posterior capsule was present in the left eye. Perimetry: marked loss ofperipheral vision" "63y" "" "Difficulty with night vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255819" "04214" "00360414" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40 , OS =20/60. Fluorescein agiogram: retinal pigment epithelial window defects in the foveal regions. The left foveal region showed a central hypofluorescent lesion with faint surrounding petal-shaped areas of hyperfluorescence, the so-called dot and halo lesion. The remainder of the retina appeared normal." "31y" "" "Dimness ofvision" "" "" "" "" "" "" "pattern dystrophy" "" "0000255820" "04214" "00360415" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/100. Perimetry: greater density of the central scotomas and further contraction of the peripheral isopters since his last visit. The macular retinal pigment epithelium appeared more atrophic and mottled in each eye compared with 3 years previously." "44y" "" "Poor night vision and defective color vision since" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255821" "04214" "00360416" "04036" "Familial, autosomal dominant" "" "Fundus: diffuse loss of pigment epithelium in the macular regions and fading of most of the yellowish pisiform lesions. Fluorecsein angiography: transmission defects a. Dark adaptometry found elevation of both cone and rod SEQments of the curve. ERG and EOG: EOG showed subnormal fast and slow oscillations of the standing potential with lightto-dark ratios of 1.58 OD and 1.51 OS (normal, 2.45; lower limit, 1.85)." "38y" "" "Distortion of words and letters while reading" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255822" "04214" "00360417" "04036" "Unknown" "" "Fundus central retina: Yellow triradiate flecks in the posterior pole. Fundus peripheral retina Yellow and gray triradiate. OCT: Irregular aspect or disruption of the EZ and IZ limited to the foveal region." "37y" "" "Metamorphopsia" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255823" "04214" "00360418" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/63. ERG: Not performerd." "48y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255824" "04214" "00360419" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/25. ERG: Abnormal." "45y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255825" "04214" "00360420" "04036" "Unknown" "" "visual acuity: OD = 6/24, OS = light perception" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255826" "04214" "00360421" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255827" "04214" "00360422" "04036" "Familial, autosomal dominant" "" "ERG: equal losses of rod and cone amplitudes" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255828" "04214" "00360423" "04036" "Isolated (sporadic)" "" "visual acuity: OD = 1,2, OS = 1,2. Macula: Pattern of multiple yellow lesions. Peripheral retina: No abnormalities" "31y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000255829" "04214" "00360424" "04036" "Unknown" "" "visual acuity: OD = 20/15, OS = 20/20. ERG: Normal." "47y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255830" "04214" "00360425" "04036" "Unknown" "" "visual acuity: OD = 20/600, OS = 20/500. ERG: Abnormal" "47y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255831" "04214" "00360426" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255832" "04214" "00360427" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG: Not performed" "44y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255833" "04214" "00360428" "04036" "Unknown" "" "visual acuity: OD = 20/125, OS = 20/125. ERG: Not performed" "47y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255834" "04214" "00360429" "04036" "Unknown" "" "visual acuity: 20/25, OS = 20/20. ERG: Not performed" "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255835" "04214" "00360430" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255836" "04214" "00360431" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255837" "04214" "00360432" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255838" "04214" "00360433" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255839" "04214" "00360434" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255840" "04214" "00360435" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255841" "04214" "00360436" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255842" "04214" "00360437" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255843" "04214" "00360438" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255844" "04214" "00360439" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255845" "04214" "00360440" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255846" "04214" "00360441" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255847" "04214" "00360442" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255848" "04214" "00360443" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255849" "04214" "00360444" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255850" "04214" "00360445" "04036" "Familial, autosomal dominant" "" "Visual aquity: OD = 20/40, OS= 20/50. Scotopic ERG: OD = 101, OS= 104. Photobic ERG: OD = 72, OS= 54. Flicker ERG: OD = 29, OS= 28." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255851" "04214" "00360446" "04036" "Familial, autosomal dominant" "" "Visual aquity: OD = 20/20, OS= 20/20. Scotopic ERG:OD = 104.5, OS= 141.8. Photobic ERG: OD = 70.6, OS= 70.6. Flicker ERG: OD = 49, OS= 49.2." "" "" "" "" "" "" "" "" "" "" "" "0000255852" "04214" "00360447" "04036" "Familial, autosomal dominant" "" "Visual aquity: OD = 20/20, OS= 20/40. Scotopic ERG: OD = 135, OS= 140. Photobic ERG: OD = 59, OS= 64. Flicker ERG: OD = 37, OS= 40." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255853" "04214" "00360448" "04036" "Familial, autosomal dominant" "" "Visual aquity: OD = 20/20, OS= 20/20. Scotopic ERG: OD = extinguished, OS= extinguished. Photobic ERG: OD = 57, OS= 49. Flicker ERG: OD = 33, OS= 35." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255854" "04214" "00360449" "04036" "Familial, autosomal dominant" "" "Visual aquity: OD = 20/20, OS= 20/33. Scotopic ERG: OD = extinguished, OS= extinguished. Photobic ERG: OD = 72, OS= 76. Flicker ERG: OD = 43, OS= 40." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255855" "04214" "00360450" "04036" "Familial, autosomal dominant" "" "Visual aquity: OD = 20/20, OS= 20/40. Scotopic ERG: OD = 53, OS= 68. Photobic ERG: OD = 91, OS= 84. Flicker ERG: OD = 30, OS= 48." "" "" "" "" "" "" "" "" "" "" "" "0000255856" "04214" "00360451" "04036" "Familial, autosomal dominant" "" "Patient was not clinically examined." "" "" "" "" "" "" "" "" "" "" "" "0000255857" "04214" "00360452" "04036" "Familial, autosomal dominant" "" "Patient was not clinically examined." "" "" "" "" "" "" "" "" "" "" "" "0000255858" "04214" "00360453" "04036" "Familial, autosomal recessive" "" "visual acuity: OD = 20/20, OS = 20/25. Fundus: RPE mottling at the fovea and corresponding pinpoint increased autofluorescence signal" "" "" "" "" "" "" "" "" "" "" "" "0000255859" "04214" "00360454" "04036" "Familial, autosomal recessive" "" "visual acuity: OD = 20/25, OS = 20/30. Fundus: retinal pigment epithelium (RPE) mottling with atrophy and pigment clumps, especially along the arcades, arteriolar narrowing, and peripheral bone spicules." "" "" "" "" "" "" "" "" "" "" "" "0000255860" "04214" "00360455" "04036" "Familial, autosomal recessive" "" "Examination: photophilia, low-amplitude high-frequency variable nystagmus, and no strabismus. Cycloplegic retinoscopy was +7.75–2.00×180 in each eye. Fundus exam was normal, although the left central macula seems slightly dark in colour." "<1y" "" "Poor fixation and nystagmus noted at 2 months old" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255861" "04214" "00360456" "04036" "Familial, autosomal recessive" "" "visual acuity: OD = 2/200, OS = 20/20. An asteroid-like hyalosis was present in the right eye. Cycloplegic retinoscopy was plano in both eyes. Additionally, there was evidence for patchy and confluent areas of RPE mottling in both eyes" "48y" "" "Loss of vision in the right eye" "" "" "" "" "" "" "" "" "0000255862" "04214" "00360457" "04036" "Familial, autosomal recessive" "" "visual acuity: OD = 20/50, OS = 20/100. Left exotropia of less than 20 prism dioptres, as well as pendular nystagmus were observed. Retinal examination was significant for fine RPE mottling and discolouration, fine yellow dots throughout the macula, and yellow discolouration in the foveal region." "" "" "Decreased vision" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255863" "04214" "00360458" "04036" "Familial, autosomal recessive" "" "visual acuity: OD = 20/100, OS = 20/200. There was a moderate left exotropia and pendular nystagmus. Retinal examination was significant for fine RPE mottling and discolouration, fine yellow dots throughout the macula, and pigmentary changes in the foveal region." "" "" "Decreased vision" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000255864" "04214" "00360459" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Goldmann Favre disease" "" "0000255865" "04214" "00360460" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255866" "04214" "00360461" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255867" "04214" "00360462" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/400, OS = 20/100. Retinal examination: pink optic nerve heads, normal retinal vessels, retinal pigmented epithelial, and choriocapillaris atrophy in the peripapillary regions bilaterally and an extensive geographic atrophy that involved the posterior pole within the vascular arcades clearly demarcated from healthy appearing tissue in the periphery." "50y" "" "Reduction of visual acuity" "" "" "" "" "" "" "pattern dystrophy" "" "0000255868" "04214" "00360463" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Retinal examination: normal optic disc and retinal vessels in both eyes, with a characteristic yellowish subfoveal lesion with five “butterfly-shaped” radiating arms." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255869" "04214" "00360464" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Retinal examination: normal disc and vessels. The perifoveal region had lightly yellowish spots clustered at the level of the foveal and perifoveal area; the periphery was of healthy appearance." "44y" "" "Metamorphopsia" "" "" "" "" "" "" "pattern dystrophy" "" "0000255870" "04214" "00360465" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/32, OS = 20/25. Macular lesion: OD = Vitellin ½ DA, OS = Vitellin ½ DA." "43y" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000255871" "04214" "00360466" "04036" "Familial, autosomal dominant" "" "Peripapillary sparing both eyes, in a “stellate” pattern. ERG: Abnormal rod and abnormal cone responses." "" "" "" "" "" "" "" "" "" "(Stargardt disease)" "" "0000255872" "04214" "00360467" "04036" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255873" "04214" "00360468" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255874" "04214" "00360469" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255875" "04214" "00360470" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/100, OS = 20/32. Visual field: Large central scotoma in both eyes. ffERG: Scotopic abolished and photopic subnormal. Photopic b-wave amplitude = 22 μV (OD)/28 μV (OS)." "68y" "" "Casual finding after cataract surgery" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255876" "04214" "00360471" "04036" "Familial, autosomal dominant" "" "Asymptomatic, casual finding after Dx of her cousin; visual acuity: N/A. Visual field: Paracentral scotoma in both eyes. ffERG: Scotopic and photopic subnormal. b-wave amplitude = 231 μV (OD)/218 μV (OS); photopic = 57 μV (OD)/61 μV (OS)" "53y" "" "" "" "" "" "" "" "" "extensive cone-rod atrophy" "" "0000255877" "04214" "00360472" "04036" "Familial, autosomal dominant" "" "Asymptomatic, casual finding after diagnosis of her mother; visual acuity: N/A. Visual field: Normal. ffERG: Normal." "51y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating fundus flavimaculatus" "" "0000255878" "04214" "00360473" "04036" "Unknown" "" "visual acuity: OD = 20/70, OS = 20/630. ERG: Not performed." "66y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255879" "04214" "00360474" "04036" "Familial, autosomal dominant" "" "Fundus: yellowish subfoveal lesion with 5 radiating arms, typical for butterfly shaped pattern dystrophy. Round pigment deposits could be observed. ERG: was indistinguishable from age-matched controls." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255880" "04214" "00360475" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255881" "04214" "00360476" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255882" "04214" "00360477" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. Fluorescein angiogram: subfoveal accumulation of pigment which blocks the choroidal fluorescence, surrounded by a halo of hyperfluorescence caused by RPE atrophy." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255883" "04214" "00360478" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255884" "04214" "00360479" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255885" "04214" "00360480" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255886" "04214" "00360481" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255887" "04214" "00360482" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255888" "04214" "00360483" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255889" "04214" "00360484" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish deposits at the perifoveal pigment epithelium. No peripheral field abnormalities." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000255890" "04214" "00360485" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/80. Color fundus: bilateral peripapillary atrophy in keeping with myopia, and peripheral patches of pigment epithelial atrophy and some intraretinal pigmentation. Fundus autofluorescence: symmetrical hypo-autofluorescent spots distributed along the major vascular arcades with peripapillary sparing, anterior to the myopic crescent" "61y" "" "Night blindness" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000255891" "04214" "00360486" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255892" "04214" "00360487" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255893" "04214" "00360488" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/25, OS = 20/25. Fundus stage: III" "38y" "" "Metamorphosia, night blindness" "" "" "" "" "" "" "macular dystrophy" "" "0000255894" "04214" "00360489" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/100, OS = 20/50. Fundus stage: III" "30y-40y" "" "Metamorphosia, night blindness" "" "" "" "" "" "" "macular dystrophy" "" "0000255895" "04214" "00360490" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/30, OS = 20/20. Fundus stage:II" "36y" "" "Metamorphosia, night blindness" "" "" "" "" "" "" "macular dystrophy" "" "0000255896" "04214" "00360491" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/20, OS = 20/16. Fundus stage: II" "35y" "" "Metamorphosia, night blindness" "" "" "" "" "" "" "macular dystrophy" "" "0000255897" "04214" "00360492" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/20, OS = 20/20. Fundus stage:II" "30y-40y" "" "Metamorphosia" "" "" "" "" "" "" "macular dystrophy" "" "0000255898" "04214" "00360493" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/40, OS = 20/40. Fundus stage: II" "20y" "" "Night blindness" "" "" "" "" "" "" "macular dystrophy" "" "0000255899" "04214" "00360494" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/20, OS = 20/20. Fundus stage: II" "19y" "" "Night blindness" "" "" "" "" "" "" "macular dystrophy" "" "0000255900" "04214" "00360495" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/16, OS = 20/16. Fundus stage: I" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255901" "04214" "00360496" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/20, OS = 20/20. Fundus stage: I" "35y-40y" "" "Metamorphosia, night blindness" "" "" "" "" "" "" "macular dystrophy" "" "0000255902" "04214" "00360497" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/20, OS = 20/20. Fundus stage: I" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255903" "04214" "00360498" "04036" "Familial, autosomal dominant" "" "peculiar autosomal dominant macular dystrophy with peripheral deposits; visual acuity: OD = 20/20, OS = 20/20. Fundus stage: I" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255904" "04214" "00360499" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255905" "04214" "00360500" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255906" "04214" "00360501" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255907" "04214" "00360502" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255908" "04214" "00360503" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255909" "04214" "00360504" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255910" "04214" "00360505" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000255911" "04214" "00360506" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000255912" "04214" "00360507" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255913" "04214" "00360508" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255914" "04214" "00360509" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255915" "04214" "00360510" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255916" "04214" "00360511" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255917" "04214" "00360512" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255918" "04214" "00360513" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255919" "04214" "00360514" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255920" "04214" "00360515" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255921" "04214" "00360516" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255922" "04214" "00360517" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255923" "04214" "00360518" "04036" "Familial, autosomal dominant" "" "The authors do not show phenotypic description for each family member individually, but gave a summary of all mambers of Family_3 and Family_4." "21y-30y" "" "Blurred central vision and photobia" "" "" "" "" "" "" "macular dystrophy" "" "0000255924" "04214" "00360519" "04036" "Familial, autosomal dominant" "" "visual acuity: handmovement in both eyes. Fundus: sharply demarcated chrioretinal atrophy in macula associated with mild retinal atrophyin the nasal area of both eyes. Fluorescein angiogram: sharply demarcated atrophy of RPE and choriocapilaris in both maculas, surrounded by granular hyperfluorescent areas in vascular arcades. In nasal retinas, combinations of hypo and hyperfluorescent areas were found." "30y" "" "Reduced visual acuity" "" "" "" "" "" "" "macular dystrophy" "" "0000255925" "04214" "00360520" "04036" "Familial, autosomal dominant" "" "visual acuity: 20/20 in both eyes. Fundus: normal optic disc, peripheral rerina, and retinal vessels in both eyes. Granularity of RPE in macula. Fluorescein angiogram: hyperfluorescent areas around fovea in both eyes." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255926" "04214" "00360521" "04036" "Familial, autosomal dominant" "" "visual acuity: counting fingers in both eyes and was unable to perform a color vision test, due to his poor visual acuity. He had an absolute central scotoma of 30 degrees in each eye and normal peripheral visual field." "40y" "" "Decreased central visual acuity and photophobia" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255927" "04214" "00360522" "04036" "Familial, autosomal dominant" "" "visual acuity of 20/20 in each eye and normal color vision. However, a small pericentral scotoma was found in both eyes ." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255928" "04214" "00360523" "04036" "Familial, autosomal dominant" "" "visual acuity of 20/20 in each eye and normal color vision. However, a small pericentral scotoma was found in both eyes ." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255929" "04214" "00360524" "04036" "Familial, autosomal dominant" "" "juvenile; ERG: Cone sensitivity loss with scotomatous regions for cone function in the central and superior fields." "" "" "" "" "" "" "" "" "" "macular degeneration" "" "0000255930" "04214" "00360525" "04036" "Familial, autosomal dominant" "" "ERG: Cone sensitivity loss with scotomatous regions for cone function in the central and superior fields." "" "" "" "" "" "" "" "" "" "crystalline dystrophy" "" "0000255931" "04214" "00360526" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255932" "04214" "00360527" "04036" "Familial, autosomal dominant" "" "Disciform lesions at the posterior poles consistent with a central areolar choroidal atrophy, central visual field scotomas, and marked loss of visual acuity." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255933" "04214" "00360528" "04036" "Familial, autosomal dominant" "" "Symmetrical disciform areas of retinal pigment epithelial (RPE) atrophy and some interspersed patches ofchoroidal atrophy. However, the foveolar RPE is widely intact. These morphological changes correspond with central visual field defects but only mild foveolar sensitivity losses and normal peripheral fields." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255934" "04214" "00360529" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "" "" "0000255935" "04214" "00360530" "04036" "Familial, autosomal dominant" "" "Symmetrical disciform areas of retinal pigment epithelial (RPE) atrophy and some interspersed patches ofchoroidal atrophy. However, the foveolar RPE is widely intact. These morphological changes correspond with central visual field defects but only mild foveolar sensitivity losses and normal peripheral fields." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000255936" "04214" "00360531" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/80, OS = 20/80. EOG: Normal. PERG: Absent." "30y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255937" "04214" "00360532" "04036" "Familial, autosomal dominant" "" "early childhood onset; visual acuity: OD = 6/6, OS = 6/18. Fundus: outer retinal atrophy paracentrally with loss of choriocapillaris and pigment epithelium in the left eye, which was confirmed by Fluorescein angiography." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255938" "04214" "00360533" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/120, OS = 20/120. EOG: Normal. PERG: Absent." "25y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255939" "04214" "00360534" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers , OS = counting fingers. EOG: Normal. PERG: Absent" "35y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255940" "04214" "00360535" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/120 , OS = 20/120 . EOG: Flat. PERG: Absent." "28y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255941" "04214" "00360536" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers , OS = counting fingers. EOG: Normal. PERG: Absent" "35y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255942" "04214" "00360537" "04036" "Familial, autosomal dominant" "" "early childhood onset; visual acuity: OD = 20/100, OS = 20/200. There was a moderate left exotropia and pendular nystagmus. Retinal examination was significant for fine RPE mottling and discolouration, fine yellow dots throughout the macula, and pigmentary changes in the foveal region." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255943" "04214" "00360538" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers, OS = counting fingers. EOG: Normal. PERG: Absent." "30y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255944" "04214" "00360539" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/80, OS = 20/120 . EOG: Decreased. PERG: Absent." "30y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255945" "04214" "00360540" "04036" "Familial, autosomal dominant" "" "early childhood onset; visual acuity: OD = 0.7, OS = 0.8. ERG: Not performed." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255946" "04214" "00360541" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/200, OS = counting fingers. EOG: Normal. PERG: Absent" "40y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255947" "04214" "00360542" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/30. EOG: Normal. PERG: Absent." "35y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255948" "04214" "00360543" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers, OS = counting fingers. EOG: Not performed. PERG: Absent." "60y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255949" "04214" "00360544" "04036" "Familial, autosomal dominant" "" "early childhood onset" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255950" "04214" "00360545" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/200, OS = 20/200. EOG: Normal. PERG: Absent" "32y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255951" "04214" "00360546" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. EOG: Normal. PERG: Absent." "27y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255952" "04214" "00360547" "04036" "Familial, autosomal dominant" "" "visual acuity: counting fingers for both eyes. Blue flash amplitude: 17. White flash amplitude: 43. 30Hz flickering test: amplitude = 2.5 (time = 40 ms)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255953" "04214" "00360548" "04036" "Familial, autosomal dominant" "" "visual acuity: counting fingers. Blue flash amplitude:55. White flash amplitude: 76" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255954" "04214" "00360549" "04036" "Familial, autosomal dominant" "" "visual acuity: counting fingers for both eyes. Blue flash amplitude: 29. White flash amplitude: 70" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255955" "04214" "00360550" "04036" "Familial, autosomal dominant" "" "visual acuity: 0.9 both eyes. Blue flash amplitude:130. White flash amplitude: 290. 30Hz flickering test: amplitude = 50 (time = 28 ms)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255956" "04214" "00360551" "04036" "Familial, autosomal dominant" "" "visual acuity: 1.0 both eyes. Blue flash amplitude: 92. White flash amplitude: 190" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255957" "04214" "00360552" "04036" "Familial, autosomal dominant" "" "visual acuity: 0.7 both eyes. Blue flash amplitude: 148. White flash amplitude: 280." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255958" "04214" "00360553" "04036" "Familial, autosomal dominant" "" "visual acuity: 1.0 both eyes. Blue flash amplitude: 36. White flash amplitude: 170." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000255959" "04214" "00360554" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular degeneration" "" "0000255960" "04214" "00360555" "04036" "Familial, autosomal dominant" "" "Vision: > 20/400 in both eyes." "17y" "" "High myopia" "" "" "" "" "" "" "macular dystrophy" "" "0000255961" "04214" "00360556" "04036" "Familial, autosomal dominant" "" "Vision: Counting fingers in both eyes." "50y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255962" "04214" "00360557" "04036" "Familial, autosomal dominant" "" "Vision: > 20/400 in both eyes." "30y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255963" "04214" "00360558" "04036" "Familial, autosomal dominant" "" "Vision: 20/200 in both eyes." "45y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255964" "04214" "00360559" "04036" "Familial, autosomal dominant" "" "Vision: 20/100 in both eyes." "40y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255965" "04214" "00360560" "04036" "Familial, autosomal dominant" "" "Vision: 20/40 in both eyes." "27y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255966" "04214" "00360561" "04036" "Familial, autosomal dominant" "" "Vision: Hand motion in both eyes." "12y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255967" "04214" "00360562" "04036" "Familial, autosomal dominant" "" "Vision: > 20/400 in both eyes. Fundus: extensive central chorioretinal atrophy" "20y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255968" "04214" "00360563" "04036" "Familial, autosomal dominant" "" "Vision: 20/300 in both eyes." "45y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255969" "04214" "00360564" "04036" "Familial, autosomal dominant" "" "Vision: > 20/400 in both eyes." "10y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255970" "04214" "00360565" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255971" "04214" "00360566" "04036" "Familial, autosomal dominant" "" "Vision:Counting fingers in both eyes. Fundus: central and adjacent chorioretinal atrophy" "20y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255972" "04214" "00360567" "04036" "Familial, autosomal dominant" "" "Vision: 20/70" "27y" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255973" "04214" "00360568" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers, OS = hand movenent. ERG: Marked reduction in cone and rod responses. PERG: Absent. Colour vision: Absent" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255974" "04214" "00360569" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/12, OS = 6/12. ERG: Niot performed. PERG: Not performed. Colour vision:Bilateral, mild protan, deutan, and tritan defects" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255975" "04214" "00360570" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/5, OS =6/5. ERG: Normal. PERG: Reduced. Colour vision: Mild protan and deutan defects" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255976" "04214" "00360571" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = artificial eye, OS = 6/24. ERG: Marked reduction in cone and rod responses (cone>rod).PERG: Absent. Colour vision: Marked protan, deutan, and tritan defects" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255977" "04214" "00360572" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/36, OS = 6/24. ERG: Mild reduction in cone and rod responses. PERG: Absent. Colour vision: Marked protan, deutan, and tritan defects." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255978" "04214" "00360573" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/4, OS = 6/4. ERG: Normal. PERG: Reduced. Colour vision: Normal" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255979" "04214" "00360574" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/18, OS = 6/18. ERG: Normal. PERG: Reduced. Colour vision: Mild protan, deutan, and tritan defects." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255980" "04214" "00360575" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/9, OS = 6/12. ERG: Normal. PERG: Reduced. Colour vision: Mild protan, deutan, and tritan defects." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255981" "04214" "00360576" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/9, OS = 6/18. ERG: Mild reduction in cone and rod responses. PERG: Reduced. Colour vision: Mild protan, deutan, and tritan defects." "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000255982" "04214" "00360577" "04036" "Familial, autosomal dominant" "" "Fundus: Irregular pigmentation. Demarcated atrophy of central retina" "40y" "" "Vision loss" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255983" "04214" "00360578" "04036" "Familial, autosomal dominant" "" "Fundus: Demarcated atrophy of central retina" "35y-55y" "" "Vision loss" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255984" "04214" "00360579" "04036" "Familial, autosomal dominant" "" "Was not clinically examined, only her father" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255985" "04214" "00360580" "04036" "Familial, autosomal dominant" "" "Was not clinically examined, only his father" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255986" "04214" "00360581" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.3, OS = 0.7. Visual field testing: Central scotoma both eyes" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255987" "04214" "00360582" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0.6. Visual field testing: Central scotoma both eyes." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255988" "04214" "00360583" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0.6. Visual field testing: Central scotoma in both eyes." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000255989" "04214" "00360584" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255990" "04214" "00360585" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255991" "04214" "00360586" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255992" "04214" "00360587" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255993" "04214" "00360588" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255994" "04214" "00360589" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255995" "04214" "00360590" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255996" "04214" "00360591" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255997" "04214" "00360592" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255998" "04214" "00360593" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000255999" "04214" "00360594" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256000" "04214" "00360595" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256001" "04214" "00360596" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256002" "04214" "00360597" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256003" "04214" "00360598" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256004" "04214" "00360599" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256005" "04214" "00360600" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256006" "04214" "00360601" "04036" "Familial, autosomal dominant" "" "Phenotypic description was not provided for each patient individually. In stead, they gave a summary of all affected p.Arg172Trp carriers." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256007" "04214" "00360602" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.05, OS = .0.07. Visual field: central scotoma 30° in both eyes. Colour vision: marked protan and deutan defectsin both eyes." "42y" "" "Loss in visual acuity." "" "" "" "" "" "" "retinal dystrophy" "" "0000256008" "04214" "00360603" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.2, OS = 0.1. Visual field: central s otoma 40° in both eyes. Colour vision: OD = mild protan, deutan and tritan defects, OS = unspecific defects." "35y" "" "Photophobia" "" "" "" "" "" "" "retinal dystrophy" "" "0000256009" "04214" "00360604" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.25, OS = 1.25. Visual field: OD = small scotomas, OS = normal. Colour vision: OD = desaturate and 2 unspecific defects, OS = desaturated and 1 unspecific defect" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000256010" "04214" "00360605" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.05, OS = 0.02. Visual field: Stable. Colour vision: not possible to perform testing." "30y" "" "Loss in visual acuity." "" "" "" "" "" "" "retinal dystrophy" "" "0000256011" "04214" "00360606" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0.7. Visual field: paracentral scotoma from 1 - 10° radius. Colour vision: mild unspecific defects." "50y" "" "Adaptation difficulties" "" "" "" "" "" "" "retinal dystrophy" "" "0000256012" "04214" "00360607" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.9, OS = 0.9. Visual field: OD =normal, OS = paracentral defects 10° from center. Colour vision: normal in both eyes." "22y" "" "Flickering light sensation" "" "" "" "" "" "" "retinal dystrophy" "" "0000256013" "04214" "00360608" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.2, OS = 0.3. Visual field: OD = paracentral scotoma 10°, sensitivity loss for I/1, and I/2, OS = central scotoma 40° extending temporally. Colour vision: marked protan and deutan defects in both eyes." "13y" "" "Mild visual acuity loss" "" "" "" "" "" "" "retinal dystrophy" "" "0000256014" "04214" "00360609" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.2. Visual field: supmild constriction (I/3,I/2,I/1) in both eyes, and in OS a paracentral scotoma 5° was observed. Colour vision: normal in both eyes." "22y" "" "Photophobia in bright light and mild nyctalopia" "" "" "" "" "" "" "retinal dystrophy" "" "0000256015" "04214" "00360610" "04036" "Familial, autosomal dominant" "" "Discrete outer retinal/RPE & choriocapillaris atrophy. Choroid thinning" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256016" "04214" "00360611" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. ETDRS score: 85. Foveal threshold: 32. Colour vision: OD = 255; 2.18, OS = 344.5; 2.94. Automated perimetry: Dense ring scotoma extending from 3°–10° eccentric to fixation bilaterally. Kintetic perimetry: Full to V4e, 30° central scotoma to I4e bilaterally. Full-field ERG responses were normal in amplitude and timing in each eye. mfERG: response densities were moderately to severely reduced, with delayed timing." "31y-40y" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256017" "04214" "00360612" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "(Stargardt disease)" "" "0000256018" "04214" "00360613" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/9, OS = 6/12.. Fundus: bilateral macular atrophy sparing the foveal region. Fundus autofluorescence:atrophic areas to be surrounded by a larger zone of speckled autofluorescence extending nasal to the disk bilaterally. OCT: bilateral relative sparing of the foveal lamination." "31y-40y" "" "Glare at night and difficulty adjusting to dim light after exposure to bright lights." "" "" "" "" "" "" "macular dystrophy" "" "0000256019" "04214" "00360614" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/36, OD = 6/24. Fundus: bilateral macular atrophic changes with mottling of the retinal pigment epithelium." "32y" "" "Central blurring of vision" "" "" "" "" "" "" "macular dystrophy" "" "0000256020" "04214" "00360615" "04036" "Familial, autosomal dominant" "" "Fundus examination revealed coalescent areas of outer retina/retinal pigment epithelium atrophy in both maculae. Fundus autofluorescence showed speckled hypoautofluorescence over much of the posterior pole bilaterally with occasional hyperautofluorescence. Optical coherence tomography showed loss of outer retinal structure in both maculae." "46y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256021" "04214" "00360616" "04036" "Familial, autosomal dominant" "" "Cone-rod dystrophy was characterized by peripheral vision loss along with central vision loss." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256022" "04214" "00360617" "04036" "Familial, autosomal dominant" "" "Cone-rod dystrophy was characterized by peripheral vision loss along with central vision loss." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256023" "04214" "00360618" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.4, OS = 0.2. All of the examination modalities showed side-symmetrical findings. Speckles appeared in the fundus photo, as well as RPE irregularities in the macular area. Fundus autofluorescence.shows a spotted pattern with hyperfluorescent and hypofluorescent dots, which are arranged around a central area with reduced autofluorescence." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256024" "04214" "00360619" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1/35, OS = 1/50 . It showed on both sides flat, choroidal and pigment epithelial atrophy in the area the macula as well as in parapapillary areas." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256025" "04214" "00360620" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "0000256026" "04214" "00360621" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "0000256027" "04214" "00360622" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "0000256028" "04214" "00360623" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" "" "0000256029" "04214" "00360624" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/80, OS = 20/30. ERG: ." "32y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256030" "04214" "00360625" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/15, OS = 20/20. ERG: Not performed." "26y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256031" "04214" "00360626" "04036" "Unknown" "" "visual acuity: OD = 20/400, OS = 20/400. ERG: Not performed." "20y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256032" "04214" "00360627" "04036" "Unknown" "" "visual acuity: OD = 20/16, OS = 20/20. ERG: Not performed." "12y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256033" "04214" "00360628" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/200, OS = 20/400. ERG: Abnormal." "15y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256034" "04214" "00360629" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/40. ERG: Abnormal." "36y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256035" "04214" "00360630" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/25. ERG: Abnormal." "38y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256036" "04214" "00360631" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/400, OS = 20/320. ERG: Not performed." "30y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256037" "04214" "00360632" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/25. ERG: Not performed." "55y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256038" "04214" "00360633" "04036" "Unknown" "" "visual acuity: OD = counting fingers, OS = counting fingers. ERG: Not performed." "24y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256039" "04214" "00360634" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/30. ERG: Abnormal." "41y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256040" "04214" "00360635" "04036" "Unknown" "" "visual acuity: OD = 20/100, OS = Hand movement. ERG: Not performed." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256041" "04214" "00360636" "04036" "Unknown" "" "visual acuity: OD = 20/60, OS = 20/200. ERG: Not performed." "11y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256042" "04214" "00360637" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256043" "04214" "00360638" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular degeneration" "" "0000256044" "04214" "00360639" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256045" "04214" "00360640" "04036" "Familial, autosomal dominant" "" "visual acuity: worse than 2/36 in each eye." "20y" "" "Loss of visual acuity" "" "" "" "" "" "" "macular degeneration" "" "0000256046" "04214" "00360641" "04036" "Familial, autosomal dominant" "" "visual acuity: worse than 2/36 in each eye." "20y" "" "Loss of visual acuity" "" "" "" "" "" "" "macular degeneration" "" "0000256047" "04214" "00360642" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/6, OS = 6/18. Fundus: outer retinal atrophy paracentrally with loss of choriocapillaris and pigment epithelium in the left eye, which was confirmed by Fluorescein angiography." "" "" "Visual difficulty when going from light to dark in early life." "" "" "" "" "" "" "macular degeneration" "" "0000256048" "04214" "00360643" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 6/5. OS = 6/5. Fundus: No ocular abnormalities, except for subtle diffuse RPE mottling throughout both posterior poles. The foveolar reflex was present in each eye. Fluorescein angiography confirmed the RPE change." "" "" "" "" "" "" "" "" "" "macular degeneration" "" "0000256049" "04214" "00360644" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0.5. Visual field testing: Large central scotoma, and multiple small scotomas.FAF: small bright spots in the indicating an accumulation of lipofuscin in the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256050" "04214" "00360645" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.03, OS = 0.03. Visual field testing: Large central scotoma in both eyes. Fundus: very large defects of the RPE and choriocapillaris in both eyes." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256051" "04214" "00360646" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.6, OS = 0.6." "36y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256052" "04214" "00360647" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.05 (macular hole), OS = 0.0167 (amblyopia)." "50y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256053" "04214" "00360648" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256054" "04214" "00360649" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256055" "04214" "00360650" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8 OS = 1.0." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256056" "04214" "00360651" "04036" "Familial, autosomal dominant" "" "Phenotype was described for the four different stages of CACD progression.However it was not mentioned which patient belongs to which stage. Description: CACD stage (1) = Presence of focal parafoveal RPE changes in a predominantly normal retina characterizes this early stage. FAF imaging revealed lipofuscin accumulation indicated by an increased signal of these parafoveal lesions. Corresponding SD-OCT scans showed focal photoreceptor/RPE abnormalities, ranging from subtle disruption and elongation of the line representing the interface of the inner and outer SEQments of the photoreceptor layer (IPRL) to frank loss of the normal outer retinal anatomy. CACD stage (2) = A round and poorly demarcated area of hypopigmentation was observed on color fundus photography, correspnding to a speckled FAF that covered the macula. SD-OCT scans of this area demonstrated a loss of reflectivity and interruption of the IPRL, and, to a lesser extent, of the external limiting membrane (ELM) . In addition, this area showed thinning and increased irregularity of the ONL. At the central macula, relative preservation of the reflectivity of the outer photoreceptor SEQments was observed. Compared to stage 1, a high number of SD-OCT hyperreflective clumps were noted, generally localized above the level of the RPE." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256057" "04214" "00360652" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256058" "04214" "00360653" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG: Not performed." "58y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256059" "04214" "00360654" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/25. ERG: Not performed." "28y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256060" "04214" "00360655" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256061" "04214" "00360656" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256062" "04214" "00360657" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256063" "04214" "00360658" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256064" "04214" "00360659" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256065" "04214" "00360660" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256066" "04214" "00360661" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256067" "04214" "00360662" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256068" "04214" "00360663" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256069" "04214" "00360664" "04036" "Familial, autosomal dominant" "" "They don\'t give phenotypic description per patient individually. Instead, they give a summary of all clinically examined patients of this family." "02y-10y" "" "Night blindness, and side vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256070" "04214" "00360665" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256071" "04214" "00360666" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.2, OS = 0.2. Fundus: characteristics of diffuse retinitis pigmentosa. Cateracts: cataracta corticalis posterior. Visual field: tunnel vision in both eyes" "10y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256072" "04214" "00360667" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256073" "04214" "00360668" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256074" "04214" "00360669" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256075" "04214" "00360670" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.5, OS = 0.3. Fundus: retinitis pigmentosa with salt pepper appearance. Cateracts: cataracta corticalis posterior. Visual field: tunnel vision in both eyes." "7y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256076" "04214" "00360671" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.3, OS = 0.3. Fundus: characteristics of diffuse retinitis pigmentosa. Cateracts: cataracta capsularis. Visual field: Partial ring scotoma in both eyes." "5y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256077" "04214" "00360672" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256078" "04214" "00360673" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256079" "04214" "00360674" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256080" "04214" "00360675" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256081" "04214" "00360676" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256082" "04214" "00360677" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.3, OS = 0.3. Fundus: retinitis pigmentosa with salt pepper appearance. Cateracts: No cateracts. Visual field: tunnel vision in both eyes." "7y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256083" "04214" "00360678" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256084" "04214" "00360679" "04036" "Familial, autosomal dominant" "" "Did not underwent clinical investigation" "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256085" "04214" "00360680" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256086" "04214" "00360681" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256087" "04214" "00360682" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256088" "04214" "00360683" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256089" "04214" "00360684" "04036" "Unknown" "" "visual acuity: OD = 20/63, OS = 20/80. ERG: Abnormal" "47y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256090" "04214" "00360685" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256091" "04214" "00360686" "04036" "Unknown" "" "visual acuity: OD = 20/500, OS = 20/250. ERG: Abnormal" "38y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256092" "04214" "00360687" "04036" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000256093" "04214" "00360688" "04036" "Familial, autosomal dominant" "" "early onset; visual acuity: OD = 0.2, OS = 0,5. Refraction_D: OD = -8.00, OS = -7,25" "" "" "" "" "" "" "" "" "" "high myoipia" "" "0000256094" "04214" "00360689" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256095" "04214" "00360690" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256096" "04214" "00360691" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256097" "04214" "00360692" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256098" "04214" "00360693" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256099" "04214" "00360694" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256100" "04214" "00360695" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256101" "04214" "00360696" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256102" "04214" "00360697" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256103" "04214" "00360698" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256104" "04214" "00360699" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256105" "04214" "00360700" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256106" "04214" "00360701" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256107" "04214" "00360702" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256108" "04214" "00360703" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256109" "04214" "00360704" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256110" "04214" "00360705" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/40. ERG: Abnormal" "16y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256111" "04214" "00360706" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256112" "04214" "00360707" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG: Abnormal" "10y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256113" "04214" "00360708" "04036" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256114" "04214" "00360709" "04036" "Familial, autosomal recessive" "" "visual acuity: OD = 20/40 OD, OS = 20/60. Slit-lamp examination: normal-appearing cornea, anterior chamber, iris, lens, and vitreous bilaterally. Fundus: mottled appearance of the retina in both macular and paracentral areas, without apparent pigmentation. Kinetic visual field examination: depressed sensitivity in the central portion with preserved peripheral field. Dark-adapted bright flash ERG: decreased amplitudes of both a-waves and b-waves." "46y" "" "Gradual impairment of visual acuity" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256115" "04214" "00360710" "04036" "Familial, autosomal recessive" "" "visual acuity: OD = 20/25 OD, OS = 20/20. Slitlamp biomicroscopic examination: normal appearing cornea, anterior chamber, iris, lens, and vitreous in each eye. Fundus: mild atrophy and macular lesions in both eyes associated with a mottled appearance in the midperipheral retina. Kinetic visual field testing: normal patterns for I-4-e, I-3-e, and I-2-e targets without evidence of central scotoma. Dark-adapted bright-flash ERG: decreased amplitudes of both a-waves and b-waves." "10y-15y" "" "Decreased visual acuity" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256116" "04214" "00360711" "04036" "Familial, autosomal dominant" "" "Blue flash amplitude: not detectable. White flash amplitude: <1.0." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256117" "04214" "00360712" "04036" "Familial, autosomal dominant" "" "The authors don\'t describe phenotype per patient, but give summary of all affected members in this study." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256118" "04214" "00360713" "04036" "Familial, autosomal dominant" "" "Blue flash amplitude: not performed. White flash amplitude: 35.2." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256119" "04214" "00360714" "04036" "Familial, autosomal dominant" "" "The authors don\'t describe phenotype per patient, but give summary of all affected members in this study." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256120" "04214" "00360715" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256121" "04214" "00360716" "04036" "Familial, autosomal dominant" "" "Blue flash amplitude: not tested. White flash amplitude: 1.2." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256122" "04214" "00360717" "04036" "Familial, autosomal dominant" "" "Blue flash amplitude: not tested. White flash amplitude: 8.3" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256123" "04214" "00360718" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256124" "04214" "00360719" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256125" "04214" "00360720" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256126" "04214" "00360721" "04036" "Familial, autosomal dominant" "" "Blue flash amplitude: not tested. White flash amplitude: 21.6" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256127" "04214" "00360722" "04036" "Familial, autosomal dominant" "" "Blue flash amplitude: not tested. White flash amplitude: 35.3" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256128" "04214" "00360723" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256129" "04214" "00360724" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256130" "04214" "00360725" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256131" "04214" "00360726" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256132" "04214" "00360727" "04036" "Familial, autosomal recessive" "" "Fundus: pigment deposits both peripherally and in the macular region, accomponied by choroidal sclerosis, vessel narrowing, and optic disc pallor. Additionally, central extensive atrophic maculopathy was observed." "<1y" "" "Visual impairment" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000256133" "04214" "00360728" "04036" "Familial, autosomal recessive" "" "juvenile; Fundus: obvious diffuse retinal dystrophy with retinal vessel narrowing, retinal pigment epithelium mottling and loss, and a multilobulated maculopathy. FAF: diffuse retinal abnormalities, perifoveal hyper-autofluorescence and a multilobulated foveal abnormalities." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256134" "04214" "00360729" "04036" "Familial, autosomal recessive" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256135" "04214" "00360730" "04036" "Familial, autosomal recessive" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "" "" "0000256136" "04214" "00360731" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256137" "04214" "00360732" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256138" "04214" "00360733" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256139" "04214" "00360734" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/32. ERG: Normal" "56y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256140" "04214" "00360735" "04036" "Familial, autosomal dominant" "" "visual acuity: not available. Fundus: not available" "12y" "" "Night blindness" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256141" "04214" "00360736" "04036" "Familial, autosomal dominant" "" "visual acuity: not available. Fundus: Salt-and-pepper pigmentation" "12y" "" "Night blindness" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256142" "04214" "00360737" "04036" "Familial, autosomal dominant" "" "visual acuity: not available. Fundus: Salt-and-pepper pigmentation" "40y" "" "Night blindness" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256143" "04214" "00360738" "04036" "Familial, autosomal dominant" "" "visual acuity: not available. Fundus: Salt-and-pepper pigmentation" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256144" "04214" "00360739" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.7, OS = 0.8. Fundus: Salt-and-pepper pigmentation" "13y" "" "Night blindness" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256145" "04214" "00360740" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256146" "04214" "00360741" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers at 2 feet, OS = 20/30." "51y" "" "Decreased visual acuity" "" "" "" "" "" "" "pattern dystrophy" "" "0000256147" "04214" "00360742" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256148" "04214" "00360743" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/25, OS = 20/25." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256149" "04214" "00360744" "04036" "Familial, autosomal dominant" "" "Visaul acuity: OD = 20/20, OS = 20/25" "46y" "" "Slight metamorphopsia, which was confirmed by Amsler grid testing" "" "" "" "" "" "" "pattern dystrophy" "" "0000256150" "04214" "00360745" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256151" "04214" "00360746" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256152" "04214" "00360747" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.05, OS = 0.05. ERG_photopic: not recordable in both eyes. ERG_scotopic: not recordable in both eyes. EOG: OD = 2.8, OS = 2.6." "45y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000256153" "04214" "00360748" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.8, OS = 0.8. ERG_photopic: not performed. ERG_scotopic: not performed. EOG: not performed." "49y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000256154" "04214" "00360749" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256155" "04214" "00360750" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256156" "04214" "00360751" "04036" "Unknown" "" "RPH2/RDS-positive patients can present with few or numerous flecks exhibiting a high or," "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256157" "04214" "00360752" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256158" "04214" "00360753" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256159" "04214" "00360754" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256160" "04214" "00360755" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256161" "04214" "00360756" "04036" "Unknown" "" "" "31y-50y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256162" "04214" "00360757" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/20. ERG: Abnormal" "50y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256163" "04214" "00360758" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256164" "04214" "00360759" "04036" "Isolated (sporadic)" "" "Fundus: refractive medium opacity, fundus blurring, macular degeneration and posterior pole retinal atrophy in both eyes. Additionally, yellow‐white deposits within the macula, retinal pigment epithelium atrophy and shortage of retinal vessels were observed." "40y" "" "Reduction in his visual acuity and peripheral field loss" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256165" "04214" "00360760" "04036" "Familial, autosomal dominant" "" "FAF: atrophy of the central area, including the fovea. Additionally, multiple flecks were observed" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256166" "04214" "00360761" "04036" "Familial, autosomal dominant" "" "Normal FAF" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256167" "04214" "00360762" "04036" "Familial, autosomal dominant" "" "Widespread retinal degeneration with more pronounced pericential component; visual acuity: OD = 3/200 OS = 20/40 | Kinetic Visual Field Extent (V-4e / I-4e): 62/<1" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256168" "04214" "00360763" "04036" "Familial, autosomal dominant" "" "Widespread retinal degeneration with more pronounced pericential component; visual acuity: OD = 20/100 OS = 20/80 | Kinetic Visual Field Extent (V-4e / I-4e): 40/<1" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256169" "04214" "00360764" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256170" "04214" "00360765" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256171" "04214" "00360766" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256172" "04214" "00360767" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256173" "04214" "00360768" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision. Occasionally, the pattern will appear in the shape of a butterfly." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256174" "04214" "00360769" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/100. ERG: not determined." "38y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256175" "04214" "00360770" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256176" "04214" "00360771" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256177" "04214" "00360772" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256178" "04214" "00360773" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision. Occasionally, the pattern will appear in the shape of a butterfly." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256179" "04214" "00360774" "04036" "Familial, autosomal dominant" "" "Fundus: macular atrophy. Fundus autofluorescence: a hypoautofluorescent central lesion corresponding to macular atrophy contrasting with a hyperautofluorescent peripheral lesion." "" "" "Blurred distance vision" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256180" "04214" "00360775" "04036" "Familial, autosomal dominant" "" "Not clinically examined, but previous examination revealed pseudo-Stargardt disease" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256181" "04214" "00360776" "04036" "Unknown" "" "" "11y-30y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256182" "04214" "00360777" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/20. ERG: Normal" "38y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256183" "04214" "00360778" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256184" "04214" "00360779" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = eye removed, not possible to determine VA, OS = 20/40. Visual field testing: ring-shaped paracentral scotoma with preserved central area." "50y" "" "Impaired visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256185" "04214" "00360780" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/200, OS = 20/50 . Visual field testing revealed large central scotomas in both eyes. The anterior SEQments appeared normal in both eyes. Slight cataracts bilaterally." "50y" "" "Impaired visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256186" "04214" "00360781" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/50. Fundus: atrophic macular lesions in both eyes." "40y" "" "Gradual impairment visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256187" "04214" "00360782" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256188" "04214" "00360783" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256189" "04214" "00360784" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256190" "04214" "00360785" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256191" "04214" "00360786" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256192" "04214" "00360787" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256193" "04214" "00360788" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256194" "04214" "00360789" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256195" "04214" "00360790" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics were not described per patient individually. They describe phenotype per stage of disease progression." "" "" "Decreased central visual acuity" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256196" "04214" "00360791" "04036" "Familial, autosomal dominant" "" "Index case" "14y" "" "Vision loss" "" "" "" "" "" "" "pattern dystrophy" "" "0000256197" "04214" "00360792" "04036" "Familial, autosomal dominant" "" "visual acuity worst eye: 20/200. Metamorphosia presence: No." "58y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256198" "04214" "00360793" "04036" "Familial, autosomal dominant" "" "visual acuity worst eye: 20/60. Metamorphosia presence: No" "47y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256199" "04214" "00360794" "04036" "Familial, autosomal dominant" "" "visual acuity worst eye: 20/200. Metamorphosia presence: No." "56y" "" "" "" "" "" "" "" "" "diffuse macular dystrophy" "" "0000256200" "04214" "00360795" "04036" "Familial, autosomal dominant" "" "visual acuity worst eye: 20/30. Metamorphosia presence: No." "23y" "" "" "" "" "" "" "" "" "diffuse macular dystrophy" "" "0000256201" "04214" "00360796" "04036" "Isolated (sporadic)" "" "visual acuity worst eye: 20/50. Metamorphosia presence: No." "45y" "" "" "" "" "" "" "" "" "diffuse macular dystrophy" "" "0000256202" "04214" "00360797" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256203" "04214" "00360798" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256204" "04214" "00360799" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Atrophy of both maculae with preserved fovea. Fundus peripheral retina: Normal. Autofluorescence: Hypo-AF at the atrophic macular area and speckled hypo-AF within the vascular arcades. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect." "53y" "" "Loss of central vision" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256205" "04214" "00360800" "04036" "Familial, autosomal dominant" "" "Asymptomatic, casual finding after Dx of his brother; Fundus central retina: Whitish stippling only in the macular area. Fundus peripheral retina: Normal. Autofluorescence: Hypo-AF at the atrophic macular area. OCT: Irregular aspect or disruption of the EZ and IZ at the macular region." "58y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256206" "04214" "00360801" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Atrophy of both maculae. Fundus peripheral retina: Normal. Autofluorescence: Hypo-AF at the atrophic macular area. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect." "59y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256207" "04214" "00360802" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Large areas of CR atrophy and whitish stippling within the vascular arcades. Fundus peripheral retina: normal. Autofluorescence: Hypo-AF at the atrophic macular area and speckled hypo-AF within the vascular arcades. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect." "42y" "" "Loss of central vision" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256208" "04214" "00360803" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Large confluent areas of chorioretinal atrophy in the posterior pole and mid-periphery. Fundus peripheral retina: Extensive chorioretinal atrophy of mid-periphery. Autofluorescence: Confluent hypo-AF areas involving the optic disc and extending beyond the vascular arcades with speckled points of hypo-AF in the posterior pole and mid-periphery. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect at the posterior pole in BE." "26y" "" "Loss of central vision" "" "" "" "" "" "" "externsive chorioretinal atrophy" "" "0000256209" "04214" "00360804" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Whitish stippling all over the posterior pole of BE with macular atrophy (>LE). Fundus peripheral retina: Whitish dots in mid-periphery. Autofluorescence: Small plaque areas of hypo-AF with scarce speckled points of hypo-AF in the posterior pole and mid-periphery. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect, EZ and IZ disrupted at the posterior pole in BE." "39y" "" "Loss of central vision" "" "" "" "" "" "" "externsive chorioretinal atrophy" "" "0000256210" "04214" "00360805" "04036" "Familial, autosomal dominant" "" "Asymptomatic, casual finding after Dx of his brother; Fundus central retina: Atrophy of both maculae with preserved fovea. Fundus peripheral retina: normal. Autofluorescence: Speckled points of hypo-AF in the posterior pole. OCT: Retinal thinning of the macular region." "31y" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256211" "04214" "00360806" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Large confluent areas of chorioretinal atrophy, with preserved foveal area at the beginning. Fundus peripheral retina: Plaques of chorioretinal atrophy in mid-periphery. Autofluorescence: Confluent hypo-AF areas involving the optic disc and extending beyond the vascular arcades with speckled points of hypo-AF in the posterior pole and mid-periphery. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect, EZ and IZ disrupted at the posterior pole in BE." "37y" "" "Loss of central vision" "" "" "" "" "" "" "externsive chorioretinal atrophy" "" "0000256212" "04214" "00360807" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Atrophy of both maculae. Fundus peripheral retina: Small areas of chorioretinal atrophy in the RE. Autofluorescence: Small plaque areas of hypo-AF in the posterior pole BE and in the mid-periphery RE. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect." "25y" "" "Loss of central vision" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256213" "04214" "00360808" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Very small, whitish dots all over the posterior pole. Fundus peripheral retina: Very small, shining, whitish dots in mid-periphery. Autofluorescence: Speckled points of hypo-AF in the posterior pole and mid-periphery. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect, EZ and IZ disrupted at the posterior pole in BE." "35y" "" "Loss of central vision" "" "" "" "" "" "" "externsive chorioretinal atrophy" "" "0000256214" "04214" "00360809" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Very small, whitish dots all over the posterior pole. Fundus peripheral retina: Very small, shining, whitish dots in mid-periphery. Autofluorescence: Speckled points of hypo-AF in the posterior pole and mid-periphery. OCT: Retinal thinning of the macular region." "18y" "" "Loss of central vision" "" "" "" "" "" "" "externsive chorioretinal atrophy" "" "0000256215" "04214" "00360810" "04036" "Familial, autosomal dominant" "" "Fundus central retina: Large confluent areas of chorioretinal atrophy, with preserved foveal area at the beginning. Fundus peripheral retina: Small areas of chorioretinal atrophy in BE. Autofluorescence: Large plaque areas of hypo-AF in the posterior pole and small plaque areas in mid-periphery. OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect at the posterior pole in BE." "20y" "" "Loss of central vision and night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256216" "04214" "00360811" "04036" "Unknown" "" "onset early after patient was born; visual acuity: OD = 20/25, OS = 20/30. ERG: Not performed." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000256217" "04214" "00360812" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/32. ERG: Abnormal." "27y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256218" "04214" "00360813" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/16. ERG: Not performed." "45y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256219" "04214" "00360814" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics are not shown for each affected family member individually. Instead, the authors gave a summary of all the affected members of the Ja family:" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256220" "04214" "00360815" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics are not shown for each affected family member individually. Instead, the authors gave a summary of all the affected members of the Ja family:" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256221" "04214" "00360816" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics are not shown for each affected family member individually. Instead, the authors gave a summary of all the affected members of the Ja family:" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256222" "04214" "00360817" "04036" "Familial, autosomal dominant" "" "Phenotypic characteristics are not shown for each affected family member individually. Instead, the authors gave a summary of all the affected members of the Ja family:" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256223" "04214" "00360818" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000256224" "04214" "00360819" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.05, OS = not mentioned. Visual field: central scotoma up to 20º and island scotomata" "25y" "" "Decline of visual acuity" "" "" "" "" "" "" "cone dystrophy" "" "0000256225" "04214" "00360820" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256226" "04214" "00360821" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256227" "04214" "00360822" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256228" "04214" "00360823" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256229" "04214" "00360824" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256230" "04214" "00360825" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000256231" "04214" "00360826" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/25. ERG: Not performed." "51y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256232" "04214" "00360827" "04036" "Familial, autosomal dominant" "" "Gradual narrowing of peripheral visual fields. Fundus: diffuse pigmentary retinal degeneration" "30y" "" "Decreased central visual acuity, photopsia, and prolonged dark adaptation" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256233" "04214" "00360828" "04036" "Familial, autosomal dominant" "" "Gradual narrowing of peripheral visual fields. Fundus: diffuse pigmentary retinal degeneration" "40y" "" "Gradual impairment of their central vision" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256234" "04214" "00360829" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/50. Fundus: Bilateral degenerative changes in macula, associated with diffuse mottling or retina in midperipheral portion" "32y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256235" "04214" "00360830" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/50. Fundus: Bilateral degenerative changes in macula, associated with diffuse mottling or retina in midperipheral portion" "30y" "" "Gradual impairment of their central vision" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256236" "04214" "00360831" "04036" "Familial, autosomal dominant" "" "visual acuity: reduced in both eyes. Fundus: Atrophic macular lesion sassociated with pigmentary retinal degradation in midperipheral and peripheral portions" "" "" "Decreased visual acuity and impaired night vision" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256237" "04214" "00360832" "04036" "Familial, autosomal dominant" "" "Fundus: normal. Scoptic ERG: normal. Standard flash ERG: normal" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256238" "04214" "00360833" "04036" "Familial, autosomal dominant" "" "Fundus: normal. Scoptic ERG: normal. Standard flash ERG: normal" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256239" "04214" "00360834" "04036" "Familial, autosomal dominant" "" "Fundus: normal. Scoptic ERG: normal. Standard flash ERG: normal" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256240" "04214" "00360835" "04036" "Familial, autosomal dominant" "" "Fundus: subretinal granual deposits in macula and midperipheral area" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256241" "04214" "00360836" "04036" "Familial, autosomal dominant" "" "Fundus: subretinal granual deposits in macula and midperipheral area" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256242" "04214" "00360837" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: Central atrophy, surrounded by STGD1-like yellowish lesions macula. Peripheral retina showed no abnormalities." "48y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000256243" "04214" "00360838" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: ODS: small yellowish lesions in fovea, small STGD1-like flecks around vascular arcades." "" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000256244" "04214" "00360839" "04036" "Familial, autosomal dominant" "" "Retinal phenotype: ODS: small yellowish lesions in fovea, small STGD1-like flecks around vascular arcades." "" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000256245" "04214" "00360840" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256246" "04214" "00360841" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256247" "04214" "00360842" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256248" "04214" "00360843" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256249" "04214" "00360844" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256250" "04214" "00360845" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256251" "04214" "00360846" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256252" "04214" "00360847" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256253" "04214" "00360848" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256254" "04214" "00360849" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256255" "04214" "00360850" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256256" "04214" "00360851" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256257" "04214" "00360852" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256258" "04214" "00360853" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256259" "04214" "00360854" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256260" "04214" "00360855" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256261" "04214" "00360856" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256262" "04214" "00360857" "04036" "Familial, autosomal dominant" "" "Macula: Yellow deposits. Destructuration of RPE." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256263" "04214" "00360858" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG: Normal." "49y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256264" "04214" "00360859" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/70. ERG: not performed" "5y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256265" "04214" "00360860" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/25. ERG: Abnormal" "36y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256266" "04214" "00360861" "04036" "Unknown" "" "visual acuity: OD = 20/80, OS = 20/320. ERG: not performed." "41y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256267" "04214" "00360862" "04036" "Unknown" "" "visual acuity: OD = 20/80, OS = 20/50. ERG: Abnormal." "48y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256268" "04214" "00360863" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256269" "04214" "00360864" "04036" "Unknown" "" "visual acuity OD = 20/20, OS = 20/70. ERG: not performed" "42y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256270" "04214" "00360865" "04036" "Familial, autosomal dominant" "" "Visual acuities: 6/6 in each eye. Anterior SEQments were normal on slit-lamp examination. Fundus examination revealed punctate hyperpigmentation in the peripheral retina ." "20y-30y" "" "Nyctalopia and reduced peripheral vision" "" "" "" "" "" "" "generalized retinal dystrophy" "" "0000256271" "04214" "00360866" "04036" "Familial, autosomal dominant" "" "Initial examination: bilateral vitelliform macular changes associated with atrophy in the left eye. 12 months later, a haemorrhage occured, that has lead to exudation and subretinal fluid at the right macula." "59y" "" "Visual distortion" "" "" "" "" "" "" "macular dystrophy" "" "0000256272" "04214" "00360867" "04036" "Unknown" "" "visual acuity: OD = 20/60, OS = 20/20. ERG: not performed" "55y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256273" "04214" "00360868" "04036" "Familial, autosomal dominant" "" "Foveal lesions accompanied by small central scotomas and mildly reduced rod and cone ERG amplitudes." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256274" "04214" "00360869" "04036" "Familial, autosomal dominant" "" "Foveal lesions accompanied by small central scotomas and mildly reduced rod and cone ERG amplitudes." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256275" "04214" "00360870" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256276" "04214" "00360871" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256277" "04214" "00360872" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256278" "04214" "00360873" "04036" "Familial, autosomal dominant" "" "early-onset" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256279" "04214" "00360874" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256280" "04214" "00360875" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256281" "04214" "00360876" "04036" "Familial, autosomal dominant" "" "Not described per familymember individually. In stead, authors gave a summary of all four the familymembers" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256282" "04214" "00360877" "04036" "Familial, autosomal dominant" "" "Not described per familymember individually. In stead, authors gave a summary of all four the familymembers" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256283" "04214" "00360878" "04036" "Familial, autosomal dominant" "" "Not described per familymember individually. In stead, authors gave a summary of all four the familymembers" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256284" "04214" "00360879" "04036" "Familial, autosomal dominant" "" "Not described per familymember individually. In stead, authors gave a summary of all four the familymembers" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256285" "04214" "00360880" "04036" "Familial, autosomal dominant" "" "Macula: RPE atrophy Flecks in macula." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256286" "04214" "00360881" "04036" "Familial, autosomal dominant" "" "Fundus and AF: RPE mottling diffusely throughout the macula. SD-OCT: outer nuclear, inner SEQment, and outer SEQment layer loss eccentric to a central region of relatively preserved outer retinal structure." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256287" "04214" "00360882" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256288" "04214" "00360883" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256289" "04214" "00360884" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/80, OS = 20/100. Fundus: atrophy of the retinal pigment epithelium in the macular area." "40y-50y" "" "Visual haze and photophobia" "" "" "" "" "" "" "cone dystrophy" "" "0000256290" "04214" "00360885" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/25. ERG: Not performed." "33y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256291" "04214" "00360886" "04036" "Isolated (sporadic)" "" "adult-onset; Fundus: Bilateral symmetric grey/yellow oval shaped lesions. ERGs: normal." "51y" "" "" "" "" "" "" "" "" "foveomacular vitelliform dystrophy" "" "0000256292" "04214" "00360887" "04036" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256293" "04214" "00360888" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256294" "04214" "00360889" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/30. Kinetic visual fieds: limited to a central island of function separated from a peripheral island by an absolute midperipheral scotoma. Static perimetry: abnormal rod and cone function in the central and peripheral islands" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256295" "04214" "00360890" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Kinetic visual fields: normal. Static perimetry: normal" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256296" "04214" "00360891" "04036" "Familial, autosomal dominant" "" "adult-onset; 1991: visual acuity: OD = 20/40, OS = 20/50. Fundus: symmetric subfoveal, vitelliform lesions of 1/3 disk area in size were seen in each eye. ERG: normal. EOG: normal" "" "" "" "" "" "" "" "" "" "foveomacular dystrophy" "" "0000256297" "04214" "00360892" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256298" "04214" "00360893" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256299" "04214" "00360894" "04036" "Familial, autosomal dominant" "" "visual acuity: OD&OS = countin fingers. Fundus: Macular geographic atrophy, no ignificant drusen. Fluorescein Angiogram: Geographic atrophy in macluae and extensive punctate defects in RPE throughout posterior pole" "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256300" "04214" "00360895" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/30. Fundus: Diffuse RPE changes with areas of atrophy, few drusen, and no flecks; surface wrinkling etinopathy in macula, OD; indistinguishable from atrophic age-related macular degeneration." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256301" "04214" "00360896" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/32, OS = 20/25. Fundus: Mixture of flecks and atrophic patches of RPE in the posterior pole, OU; retinal arteriolar attenuation, OU. Fluorescein Angiogram: Extensive patches of RPE atrophy becoming almost coales cent in some area, OU." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256302" "04214" "00360897" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256303" "04214" "00360898" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/25, OS = 20/20. Fundus: Small parafoveal areas of RPE atrophy, no significant drusen of flecks. Fluorescein Angiogram: Parafoveal transmission defects corresponding to RPE atrophy and additional 250-um spots of atrophy in the midperiphery, OU." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256304" "04214" "00360899" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/32. Fundus: Irregularly shaped vitelliform lesions in the macula, and scattered areas of RPE atrophy in the midperiphery. Fluorescein Angiogram: Diffuse 250-500-um patches of transmission defects corresponding to RPE atrophy throughout the posterior pole." "40y" "" "Visual blurring" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256305" "04214" "00360900" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/25. Fundus: Numerous drusen-like flecks in the midperipheral retina and macula; parafoveal, irregular vitelliform lesions; mild arteriolar attenuation. Fluorescein Angiogram: Spots of hyperfluorescence midperipheral and parafoveal; RPE atrophy not exactly corresponding to yellow flecks or parafoveal vitelliform lesions." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256306" "04214" "00360901" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/50, OS = 20/32. Fundus: Parafoveal, irregularly shaped atrophic lesions and diffuse RPE changes. Fluorescein Angiogram: Transmission defects corresponding to the area of RPE atrophy." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256307" "04214" "00360902" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Fundus: Irregular, vitelliform lesions in the foveas with yellow flecks in the posterior poles of both eyes. Fluorescein Angiogram: Hyperfluorescent spots corresponding to some but not all of the flecks, no staining of foveal lesion" "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256308" "04214" "00360903" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/16, OS = 20/16. Fundus: normal. Fluorescein Angiogram: Diffuse mottling of the RPE without focal defects." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256309" "04214" "00360904" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/16, OS = 20/16. Fundus: Extensive fine drusen in the midperiphery, OS > OD. Fluorescein Angiogram: Scattered small punctate hyperfluorescent spots primarily anterior to maculae, slight irregularity of parafoveal RPE." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256310" "04214" "00360905" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256311" "04214" "00360906" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/16-2, OS = 20/16-1. Fundus: Granular RPE in periphery, but normal foveal reflexes and nofocal abnormalities. Fluorescein Angiogram: normal." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256312" "04214" "00360907" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256313" "04214" "00360908" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/15, OS = 20/20. Fundus: Normal foveal reflexes, OU, but underlying RPE appeared to be irregularly pigmented, OS > OD. Fluorescein Angiogram: Subtle RPE changes beneath the foveal avascular zones, OU." "" "" "" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256314" "04214" "00360909" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/25, OS = 20/50. Amsler grid testing: OD = no abnormality, however, OS = metamorphopsia. Fundus: Symmetrical lesions both eyes. A slightly elevated, oval, discrete, one-third-discdiameter-size, yellowish deposit was present at the level of the pigment epithelium. A small pigment clump was present at the center of the lesion." "30y" "" "Mild metamorphopsia" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256315" "04214" "00360910" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/30. Amsler grid testing: mild metamorphopsia. Fundus: In the center of the right macula there was an irregular, circular zone with a central yellowish-grey spot. Several smaller circular zones of a similar color were clustered around and were continuous with the central zone." "44y" "" "Mild distortion of vision in her left eye" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256316" "04214" "00360911" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/40. Amsler grid testing: within normal limits. Ophthalmoscopic and biomicroscopic examinations of the fundi revealed a one-third-disc-diameter-size geographic zone of depigmentation and atrophy of the pigment epithelium in the central macular area of each eye. Fundus and autofluorescence: Surrounding the central lesions were several round or oval, slightly elevated, slightly yellowish lesions with dark grey centers surrounded by irregular hypopigmentation of the pigment epithelium. In the paramacular area of each eye there was an irregular pattern of faint depigmentation which was apparent only with the slit-lamp." "30y" "" "Difficulty reading with her left eye" "" "" "" "" "" "" "peculiar foveomacular dystrophy" "" "0000256317" "04214" "00360912" "04036" "Familial, autosomal dominant" "" "Her initial visual acuities were 20/50 and 20/60 in the right and left eyes, respectively. At the time of her most recent evaluation at 50 years of age, her visual acuity had declined to 20/200 and 20/100 in the right and left eyes, respectively." "43y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256318" "04214" "00360913" "04036" "Familial, autosomal dominant" "" "His visual acuities were 20/30+ 3 in the right eye and 20/25-2 in the left. Similar to individual V -l0 In family 1, he had small yellowish subfoveal lesions in each eye." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256319" "04214" "00360914" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.017, OS = 0.5. ERG_photopic: Severly abnormal in both eyes. ERG_scotopic: Abnormal in both eyes. EOG: OD = 1.6, OS = 1.7" "52y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000256320" "04214" "00360915" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 0.3. ERG_photopic: Noral in both eyes. ERG_scotopic: Abnormal in both eyes. EOG: OD = 1.5, OS = 1.5." "55y" "" "" "" "" "" "" "" "" "multifocal pattern dystrophy" "" "0000256321" "04214" "00360916" "04036" "Familial, autosomal dominant" "" "Fundus and FAF: RPE mottling diffusely throughout the macula, with atrophy surrounding fixation superiorly, nasally, and temporally. SD-OCT: outer nuclear, inner SEQment, and outer SEQment layer loss eccentric to a central region of relatively preserved outer retinal structure, where highly reflective features are present in the outer SEQment/RPE junction layer in addition to an inner retinal hyporeflective space. High-resolution images of macular cone structure show cone spacing is near normal at the fovea, but is more significantly increased in regions of reduced reflectivity nasal to the fovea." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000256322" "04214" "00360917" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "(Stargardt disease)" "" "0000256323" "04214" "00360918" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256324" "04214" "00360919" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/80. ERG: not performed." "7y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256325" "04214" "00360920" "04036" "Unknown" "" "visual acuity: OD = 20/160, OS = counting fingers. ERG: not performed" "57y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256326" "04214" "00360921" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/40. ERG: Abormal" "42y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256327" "04214" "00360922" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/25. ERG: Not performed." "27y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256328" "04214" "00360923" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/40. ERG: Abnormal" "30y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256329" "04214" "00360924" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/32. ERG: Normal" "38y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256330" "04214" "00360925" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/30. ERG: Not performed." "49y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256331" "04214" "00360926" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.5, OS = 1.5. The corneas, anterior chambers, and lenses appeared normal in both eyes. The vitreous bodies were liquefied. White-gray discoloration of the peripheral retina associated with bone-spicule-like pigmentation was observed in both fundi." "40y-50y" "" "Night blindness and visual field constriction in both eyes." "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256332" "04214" "00360927" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256333" "04214" "00360928" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256334" "04214" "00360929" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256335" "04214" "00360930" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256336" "04214" "00360931" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/50. ERG: Not performed" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256337" "04214" "00360932" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256338" "04214" "00360933" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.15, OS = hand movements. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 0, OS = 0. 30Hz flickering amplitude: OD = 0.3, OS = 0.5. 30Hz flickering implicit time: OD = X, OS = X." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256339" "04214" "00360934" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.5, OS = 0.5. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 0, OS = 0. 30Hz flickering amplitude: OD = 0.5, OS = 0.2. 30Hz flickering implicit time: OD = X, OS = X." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256340" "04214" "00360935" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.5, OS = 0.6. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 0, OS = 0. 30Hz flickering amplitude: OD = 0.9, OS = 1.1. 30Hz flickering implicit time: OD = 42.4, OS = 45.2." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256341" "04214" "00360936" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.5, OS = 0.5. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 0, OS = 4. 30Hz flickering amplitude: OD = 1.2, OS = 2. 30Hz flickering implicit time: OD = 45.2, OS = 42.0" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256342" "04214" "00360937" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.7, OS = 0.7. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 2, OS = 5. 30Hz flickering amplitude: OD = 2.1, OS = 1.6. 30Hz flickering implicit time: OD = 39.6, OS = 41.6." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256343" "04214" "00360938" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.5, OS = 0.6. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 20, OS = 19. 30Hz flickering amplitude: OD = 8.1, OS = 9.3. 30Hz flickering implicit time: OD = 48.2, OS = 47.4" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256344" "04214" "00360939" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.7, OS = 0.7. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 9.5, OS = 6.2. 30Hz flickering amplitude: OD = 10, OS = 9.4. 30Hz flickering implicit time: OD = 45.0, OS = 44.2" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256345" "04214" "00360940" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.7, OS = 0.5. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 21, OS = 18. 30Hz flickering amplitude: OD = 12, OS = 19. 30Hz flickering implicit time: OD = 37.4, OS = 39.6" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256346" "04214" "00360941" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.0. Blue flash amplitude: OD = 0, OS = 0. White flash amplitude: OD = 18, OS = 16. 30Hz flickering amplitude: OD = 23, OS = 20. 30Hz flickering implicit time: OD = 44.0 OS = 44.2" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256347" "04214" "00360942" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256348" "04214" "00360943" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256349" "04214" "00360944" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256350" "04214" "00360945" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256351" "04214" "00360946" "04036" "Familial, autosomal dominant" "" "ERG assessment demonstrated early deterioration of rod function, with amplitudes reduced or extinguished. Cone-isolated responses were reduced in amplitude and delayed in timing." "30y-39y" "" "Adult affected individuals in TCDG reported a late onset of night vision difficulties" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256352" "04214" "00360947" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40, OS = 20/30. Visual field: concentrically reduced with the retention of a central island vision of almost 15°. ERG: Abnormal." "20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256353" "04214" "00360948" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 20/20, OS = 20/20. Visual field, electroretinographic, and electroculographic responses were within normal limits." "30y-40y" "" "Mild metamorphopsias" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256354" "04214" "00360949" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256355" "04214" "00360950" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256356" "04214" "00360951" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256357" "04214" "00360952" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = N.A." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256358" "04214" "00360953" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/30. ERG: Not performed" "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256359" "04214" "00360954" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 0.1, OS = 0.1." "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256360" "04214" "00360955" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 0.6, OS = 0.5. Visual field: Central scotoma in OS" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256361" "04214" "00360956" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256362" "04214" "00360957" "04036" "Unknown" "" "visual acuity: OD = 20/70, OS = 20/70. ERG: Normal." "73y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256363" "04214" "00360958" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256364" "04214" "00360959" "04036" "Familial, autosomal recessive" "" "visual acuity first visit: OD = 20/70, OS = 20/70. visual acuity last visit: OD = 20/70, OS = 20/70. Visual field: constricted in both eyes." "8m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000256365" "04214" "00360960" "04036" "Familial, autosomal recessive" "" "early childhood onset; visual acuity: OD = 20/50, OS = 20/100. Left exotropia of less than 20 prism dioptres, as well as pendular nystagmus were observed. Retinal examination was significant for fine RPE mottling and discolouration, fine yellow dots throughout the macula, and yellow discolouration in the foveal region." "" "" "" "" "" "" "" "" "" "" "" "0000256366" "04214" "00360961" "04036" "Familial, autosomal recessive" "" "early infancy onset; Fundus: waxy pallor of optic disc along with arteriolar narrowing and bull’s eye pattern macular atrophy involving the fovea. OCT: atrophy of the outer retinaRPE-choriocapillaries complex in both eyes with subretinal depositions mainly in the fovea." "" "" "" "" "" "" "" "" "" "" "" "0000256367" "04214" "00360962" "04036" "Familial, autosomal recessive" "" "asymptomatic but fundus showed detectable maculopathy phenotypes; visual acuity: significant refractive defect whereby visual acuity was reduced due to partial amblyopia" "" "" "" "" "" "" "" "" "" "" "" "0000256368" "04214" "00360963" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy/pseudo-Stargardt disease" "" "0000256369" "04214" "00360964" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/50. ERG: Normal." "18y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256370" "04214" "00360965" "04036" "Familial, autosomal dominant" "" "adult-onset; Not clinically examined/no clinical info" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256371" "04214" "00360966" "04036" "Familial, autosomal dominant" "" "adult-onset; Not clinically examined/no clinical info" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256372" "04214" "00360967" "04036" "Familial, autosomal dominant" "" "adult-onset; Not clinically examined/no clinical info" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256373" "04214" "00360968" "04036" "Familial, autosomal dominant" "" "adult-onset; Not clinically examined/no clinical info" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256374" "04214" "00360969" "04036" "Familial, autosomal dominant" "" "adult-onset; Not clinically examined/no clinical info" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256375" "04214" "00360970" "04036" "Familial, autosomal dominant" "" "adult-onset; ERG: Normal in tright eyes, but decrease “b” wave in cones in left eye." "34y" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256376" "04214" "00360971" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/800, OS = 20/800." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256377" "04214" "00360972" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/800, OS = 20/40 (+2)" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256378" "04214" "00360973" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/27 (-1), OS = 20/53 (-1)" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256379" "04214" "00360974" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/64, OS = 20/800." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256380" "04214" "00360975" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = 20/70." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256381" "04214" "00360976" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/33 (+2), OS = 20/20 (-2)" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256382" "04214" "00360977" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 2-/20 (-1), OS = 2-/20 (-1)" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256383" "04214" "00360978" "04036" "Familial, autosomal dominant" "" "Fundus and AF: RPE mottling diffusely throughout the macula with regional atrophy inferonasal to fixation. OCT: outer nuclear, inner SEQment, and outer SEQment layer loss eccentric to a central region of relatively preserved outer retinal structures where highly reflective features are present in the outer SEQment/RPE junction layer." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256384" "04214" "00360979" "04036" "Unknown" "" "visual acuity: OD = 20/160, OS = 20/250. ERG: Not performed." "50y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256385" "04214" "00360980" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/30. ERG: Abnormal." "40y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256386" "04214" "00360981" "04036" "Familial, autosomal dominant" "" "Latest visual acuity: OD = 20/20, OS = 20/40. Fundus: macular pigmentary changes most pronounced in the right eye and increased flecks bilaterally. The repeat FAF showed occult leakage in the left eye." "58y" "" "Metamorphopsia in the right eye" "" "" "" "" "" "" "pattern dystrophy" "" "0000256387" "04214" "00360982" "04036" "Familial, autosomal dominant" "" "Initial visual acuity: OD = 20/30, OD = 20/25. Fundus: bilateral mid-peripheral yellow flecks, and the right eye showed a grey lesion nasal of the fovea. The initial FA showed bilateral hyperfluorescent flecks in the macula with leakage in the right eye suggestive of CNV." "54y" "" "Metamorphopsia in the right eye" "" "" "" "" "" "" "pattern dystrophy" "" "0000256388" "04214" "00360983" "04036" "Familial, autosomal dominant" "" "" "31y" "" "Metamorphopsia in the left eye" "" "" "" "" "" "" "pattern dystrophy" "" "0000256389" "04214" "00360984" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/25. ERG: Not performed." "55y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256390" "04214" "00360985" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/25. ERG: Not performed." "55y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256391" "04214" "00360986" "04036" "Unknown" "" "Macula: Starred aspect and destructuration of RPE" "35y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256392" "04214" "00360987" "04036" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256393" "04214" "00360988" "04036" "Familial, autosomal dominant" "" "The three affected members of this oriental family showed a late onset form of ADRE" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256394" "04214" "00360989" "04036" "Familial, autosomal dominant" "" "The three affected members of this oriental family showed a late onset form of ADRE" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256395" "04214" "00360990" "04036" "Familial, autosomal dominant" "" "The three affected members of this oriental family showed a late onset form of ADRE" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256396" "04214" "00360991" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/20. ERG:Not performed." "42y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256397" "04214" "00360992" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256398" "04214" "00360993" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256399" "04214" "00360994" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256400" "04214" "00360995" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256401" "04214" "00360996" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256402" "04214" "00360997" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256403" "04214" "00360998" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256404" "04214" "00360999" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256405" "04214" "00361000" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/50 -2, OS = 20/30-2. Fundus: macular epiretinal membranes with diffuse retinal pigment epithelial atrophy and a prominent choroidal pattern with choroidal atrophy. There also was extensive pigment clumping. The changes were apparent from the midperipheral retina to just posterior to the retinal vascular arcades. The retinal vessels were attenuated, and the optic discs were pale." "35y" "" "Poor side vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256406" "04214" "00361001" "04036" "Familial, autosomal dominant" "" "visual acuity at age 59: OD = 20/50 -1, OS = 20/400. Slit-lamp examination: mild degree of posterior subcapsular lens opacification, whereas the vitreous showed a few cells in each eye. Fundus: attenuated retinal vessels. There were atrophic-appearing foveal lesions within each eye, which were more severe than they had been at the patient\'s initial examination. We noted hypopigmentation within 2 to 3 disc diameters (DO) anterior and I to 1.5 DO posterior to the retinal vascular arcades, which caused the appearance of a more prominent choroidal pattern and choroidal atrophy. A small amount of bone spicule-like pigment clumping was noted within the areas of hypopigmentation. The optic discs appeared pale." "30y" "" "Poor night vision and impairment in her peripheral vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256407" "04214" "00361002" "04036" "Familial, autosomal dominant" "" "visual acuity at age 29: OD = 20/20 -1 OS = 20/30 +1. Fundus: a ring-shaped hypopigmentation that extended to within I to 1.5 DO posterior and 2 to 3 DO anterior to the retinal vascular arcades. There was only a small amount of pigment clumping in a bone spiculelike fashion within the regions of hypopigmentation. The choroidal vessels were prominent, giving the appearance ofchoroidal atrophy. There were atrophic-appearing lesions within the macula that spared the foveola. The optic discs were grossly normal. The retinal vessels were attenuated." "20y" "" "Poor night vision and impairment in his peripheral vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256408" "04214" "00361003" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256409" "04214" "00361004" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256410" "04214" "00361005" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20 -2, OS = 20/20 + 2. Fundus: normal-appearing optic discs and mild attenuation of the retinal vessels. There was hypopigmentation presenting a prominent choroidal pattern that extended into a horseshoe shape from approximately 2 DD anterior to the retinal vascular arcades and 1 DD nasal to the optic disc in each eye. Hypopigmented changes also were seen within 2 DD temporal to the fovea. Patchy atrophic-appearing lesions were seen within each fovea. There were isolated spots of pigment clumping." "39y" "" "Difficulty with night vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256411" "04214" "00361006" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256412" "04214" "00361007" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30-2, OS = 20/30. Fundus: small hypopigmented lesions within each fovea. The optic disc and retinal vessels, as well as the peripheral retina, were normal in each eye. ERG: cone function that was mildly reduced in amplitude at 70 to 80 uV, which was below the lower limit of 100 uV. The dark-adapted response to a high-intensity white light was 320 uV, which was reduced below the lower limit of 400 uV. An isolated rod response obtained with a blue flickering stimulus was uV, which was reduced below the lower limit of 40 uV. Both light- and dark-adapted b-wave implicit times were normal." "" "" "No complaints" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256413" "04214" "00361008" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/40 +2, OS = 20/40 -2. Fundus: normal optic discs and retinal vessels. There were small, hypopigmented, atrophicappearing lesions within each fovea. The peripheral retina of each eye showed blotchy areas of hypopigmentation along the inferior retinal vascular arcade and nasal to the optic disc." "<10y" "" "Difficulty reading" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256414" "04214" "00361009" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/400, OS = 20/60. Ring scotomas were observed" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256415" "04214" "00361010" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/25 OS = 20/25. Ring scotomas were observed." "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256416" "04214" "00361011" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. Fundus: Perifoveal ring of small grey spots, each with a yellow halo. Flueorescein Angiogram: Blocked fluorescence with surrounding hyperfluorescence corresponsing to each grey spot observed in fundus." "20y-30y" "" "Decreased night vision" "" "" "" "" "" "" "pattern dystrophy" "" "0000256417" "04214" "00361012" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 5/10 OS = 6/10." "17y" "" "Poor night vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256418" "04214" "00361013" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256419" "04214" "00361014" "04036" "Familial, autosomal dominant" "" "Asymptomatic, casual finding after diagnosis of her mother; Not clinically examined" "" "" "" "" "" "" "" "" "" "" "" "0000256420" "04214" "00361015" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256421" "04214" "00361016" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256422" "04214" "00361017" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256423" "04214" "00361018" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256424" "04214" "00361019" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256425" "04214" "00361020" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256426" "04214" "00361021" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256427" "04214" "00361022" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256428" "04214" "00361023" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256429" "04214" "00361024" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256430" "04214" "00361025" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256431" "04214" "00361026" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256432" "04214" "00361027" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256433" "04214" "00361028" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256434" "04214" "00361029" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256435" "04214" "00361030" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256436" "04214" "00361031" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256437" "04214" "00361032" "04036" "Familial, autosomal dominant" "" "visual acuity first visit: OD = 20/20, OS = 20/32, visual acuity last visit: OD = 20/25, OS = 20/200. Visual field: Concentric retraction of visual field. ffERG: Scotopic and photopic abolished." "18y" "" "Tunnel vision and night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256438" "04214" "00361033" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/20. ERG: Not performed." "38y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256439" "04214" "00361034" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.,9 OS = 1.0. Perimetry: I/4 concentric narrowed 15 to 60 degrees." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256440" "04214" "00361035" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.6, OS = 0.4. Perimetry: concentric narrowed to 15 degrees." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256441" "04214" "00361036" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/25. ERG: Not performed." "50y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256442" "04214" "00361037" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256443" "04214" "00361038" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256444" "04214" "00361039" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256445" "04214" "00361040" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256446" "04214" "00361041" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256447" "04214" "00361042" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256448" "04214" "00361043" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256449" "04214" "00361044" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256450" "04214" "00361045" "04036" "Familial, autosomal dominant" "" "The ocular finding of the patients with Pro216Leu mutation of RDS gene included severe visual loss and diffuse" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256451" "04214" "00361046" "04036" "Familial, autosomal dominant" "" "The ocular finding of the patients with Pro216Leu mutation of RDS gene included severe visual loss and diffuse" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256452" "04214" "00361047" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.08, OS = 0.16. Perimetry: Concentric narrowed to 3 degrees." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256453" "04214" "00361048" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256454" "04214" "00361049" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256455" "04214" "00361050" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/20. ERG: Abnormal." "36y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256456" "04214" "00361051" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/50. ERG: Abnormal." "21y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256457" "04214" "00361052" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/50. ERG: Abnormal." "49y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256458" "04214" "00361053" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/25. ERG: Not determined." "62y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256459" "04214" "00361054" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256460" "04214" "00361055" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256461" "04214" "00361056" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/30. ERG: Not determined." "54y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256462" "04214" "00361057" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256463" "04214" "00361058" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256464" "04214" "00361059" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256465" "04214" "00361060" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256466" "04214" "00361061" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256467" "04214" "00361062" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256468" "04214" "00361063" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256469" "04214" "00361064" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256470" "04214" "00361065" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256471" "04214" "00361066" "04036" "Familial, autosomal dominant" "" "All affected members had abnormal ERGs, young patients have modest reduced amplitudes and response times." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256472" "04214" "00361067" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256473" "04214" "00361068" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256474" "04214" "00361069" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256475" "04214" "00361070" "04036" "Familial, autosomal dominant" "" "ERG: Photopic = Normal, Scotopic = Normal" "45y" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256476" "04214" "00361071" "04036" "Familial, autosomal dominant" "" "ERG: Photopic = Normal, Scotopic = Normal" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256477" "04214" "00361072" "04036" "Familial, autosomal dominant" "" "Flash ERG: Abscent. ERG: Not determined. EOG: Not determined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256478" "04214" "00361073" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/25. ERG: Normal." "42y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256479" "04214" "00361074" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256480" "04214" "00361075" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256481" "04214" "00361076" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256482" "04214" "00361077" "04036" "Familial, autosomal dominant" "" "Rod and cone amplitudes within the normal range and the olderheterozygote had equal losses." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256483" "04214" "00361078" "04036" "Familial, autosomal dominant" "" "Equal losses rod and cone amplitudes" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256484" "04214" "00361079" "04036" "Familial, autosomal recessive" "" "pediatric onset; Retinal examination was significant for central macula horizontal ovoid discoloration as was documented for young adults with homozygous peripherin mutations in the one previous report." "<1m" "" "Long-standing low vision" "" "" "" "" "" "" "cone-rod dysfunction" "" "0000256485" "04214" "00361080" "04036" "Familial, autosomal recessive" "" "early infancy onset; Fundus: waxy pallor of optic disc along with arteriolar narrowing and bull’s eye pattern macular atrophy involving the fovea. OCT: atrophy of the outer retinaRPE-choriocapillaries complex in both eyes with subretinal depositions mainly in the fovea." "" "" "" "" "" "" "" "" "" "" "" "0000256486" "04214" "00361081" "04036" "Familial, autosomal recessive" "" "infancy onset; Fundus: macular atrophy. Fundus autofluorescence: a hypoautofluorescent central lesion corresponding to macular atrophy contrasting with a hyperautofluorescent peripheral lesion." "" "" "" "" "" "" "" "" "" "" "" "0000256487" "04214" "00361082" "04036" "Unknown" "" "visual acuity: OD = 20/80, OS = hand movement. ERG: Not performed." "16y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256488" "04214" "00361083" "04036" "Unknown" "" "visual acuity: OD =20/20 , OS = 20/20. ERG: Normal." "40y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256489" "04214" "00361084" "04036" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256490" "04214" "00361085" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.3, OS = 0.2. Visual field testing: Central scotoma" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256491" "04214" "00361086" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256492" "04214" "00361087" "04036" "Familial, autosomal dominant" "" "Amsler grid testing showed a discrete area of central blurring on the right. Dilated examination showed yellow deposits in the central macula of both eyes, with greater involvement of the right eye." "40y" "" "Decreased visionin the right eye." "" "" "" "" "" "" "pattern dystrophy" "" "0000256493" "04214" "00361088" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256494" "04214" "00361089" "04036" "Unknown" "" "visual acuity: OD = 20/250, OS = 20/32. ERG: Abnormal" "43y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256495" "04214" "00361090" "04036" "Familial, autosomal dominant" "" "adult-onset" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256496" "04214" "00361091" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/25. ERG = Normal." "47y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256497" "04214" "00361092" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256498" "04214" "00361093" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256499" "04214" "00361094" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/20. ERG = Not determined." "58y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256500" "04214" "00361095" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/32. ERG = Not determined." "50y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256501" "04214" "00361096" "04036" "Unknown" "" "visual acuity: OD = 20/16, OS = 20/16. ERG = Not determined" "41y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256502" "04214" "00361097" "04036" "Unknown" "" "visual acuity: OD = 20/400, OS = 20/400. ERG = Not determined." "59y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256503" "04214" "00361098" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256504" "04214" "00361099" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256505" "04214" "00361100" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "(Stargardt disease)" "" "0000256506" "04214" "00361101" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256507" "04214" "00361102" "04036" "Unknown" "" "visual acuity: OD = 20/25 OS = 20/25. ERG = Normal." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256508" "04214" "00361103" "04036" "Unknown" "" "visual acuity: OD = 20/70 OS = 20/200. ERG = Abnormal." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256509" "04214" "00361104" "04036" "Unknown" "" "visual acuity: OD = 20/125, OS = 20/60. ERG = Normal." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256510" "04214" "00361105" "04036" "Unknown" "" "Macula: Butterfly-shaped pattern dystrophy." "43y" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256511" "04214" "00361106" "04036" "Familial, autosomal dominant" "" "A macular pattern dystrophy was diagnosed with fundus changes similar" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256512" "04214" "00361107" "04036" "Familial, autosomal dominant" "" "Fundus: waxy pallor of optic disc along with arteriolar narrowing and bull’s eye pattern macular atrophy involving the fovea. OCT: atrophy of the outer retinaRPE-choriocapillaries complex in both eyes with subretinal depositions mainly in the fovea." "" "" "Low vision, jerky nystagmus, photophobia along with nyctalopia" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000256513" "04214" "00361108" "04036" "Familial, autosomal dominant" "" "Fundus: mild waxy pallor of the optic disc along with extensive chorioretinal atrophy involving the posterior pole and midperiphery with sparing of the fovea in the right eye. Pigment spicules were markedly apparent in the midperiphery. OCT: atrophy of the outer retina-RPE-choriocapillaries complex in both eyes." "40y" "" "Gradually decreasing central vision in the right eye, accompanied with a progressive nyctalopia and visual field defect" "" "" "" "" "" "" "end stage fundus flavimaculatus" "" "0000256514" "04214" "00361109" "04036" "Familial, autosomal dominant" "" "Fundus: trace pallor of optic disc along with areolar or patchy type chorioretinal atrophy predominantly involving the macula. OCT: atrophy of the outer retina-RPE-choriocapillaries complex in both eyes with a relative preservation of the fovea." "50y" "" "Gradually decreasing central vision" "" "" "" "" "" "" "central areolar chorioretinal dystrophy" "" "0000256515" "04214" "00361110" "04036" "Familial, autosomal dominant" "" "Fundus: fleck type subretinal vitelliform depositions in the macula. FAF: hyperautofluorescent patterns corresponded to subretinal depositions which were clearly appreciated throughout the posterior pole. OCT: only subretinal or above RPE deposition without retinal atrophy." "" "" "" "" "" "" "" "" "" "macular pattern dystrophy" "" "0000256516" "04214" "00361111" "04036" "Unknown" "" "visual acuity: OD = counting fingers, OS = counting fingers. ERG: Not determined." "30y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256517" "04214" "00361112" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/30, OS = counting fingers. ERG: Normal" "54y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256518" "04214" "00361113" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/25. ERG: Abnormal" "38y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256519" "04214" "00361114" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/25. ERG: Abnormal" "55y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256520" "04214" "00361115" "04036" "Unknown" "" "visual acuity: OD = 20/60, OS = 20/30. ERG: Not determined" "38y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256521" "04214" "00361116" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256522" "04214" "00361117" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/32. ERG: Not determined" "10y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256523" "04214" "00361118" "04036" "Familial, autosomal dominant" "" "visual acuity: was correctable to 20/300 OD with a 4-2.75 -2.25X25 refraction and 20/200 OS with a 4-2.25 -1.25X 147 refraction. Slitlamp biomicroscopy: normal appearances of the cornea, anterior chamber, iris, and lens. Fundus: macular degeneration associated with pigmentary retinal degeneration in the pericentral and midperipheral areas." "10y-15y" "" "Impaired visual acuity" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256524" "04214" "00361119" "04036" "Familial, autosomal dominant" "" "visual acuity: was corrected to 20/40 OU with —2.50 diopters (D) sphere in the right eye and —3.50 D sphere in the left eye. Slitlamp examination: normal findings in the cornea, anterior chamber, iris, lens, and vitreous. Fundus: bilateral ring-shaped yellowish de¬ posits in the subretinal layer that looked like bull\'s-eye maculopathy, associated with hypopigmented retina in the pericentral area. Retinal arteries were slightly attenuated. Fluorescein angiography: confirmed the presence of bull\'s-eye maculopathy in both eyes and disclosed hyperfluorescence in the pericentral area that corresponded to the mottled retina, suggesting atrophie changes in the retinal pigment epithelial layer." "10y-15y" "" "Impaired visual acuity" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256525" "04214" "00361120" "04036" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000256526" "04214" "00361121" "04036" "Familial, autosomal dominant" "" "visual acuity: corrected to 0.5 OD with —3.0 D sphere refraction and hand movement in the left eye. Slit-lamp biomicroscopic examination: normal-appearing corneas. The anterior chambers were slightly shallow, and the intraocular pressures were 29 mm Hg in the right eye and 40 mm Hg in the left eye. Fundus: diffuse pigmentary degeneration in the midperipheral area. Since then, the intraocular pressure bas been controlled with glaucoma medication and laser iridectomy in both eyes. In February 1991, he was again referred to our clinic because of progression of cataract and visual disturbance in both eyes. Nuclear sclerosis with posterior subcapsular cataract was seen bilaterally." "21y-30y" "" "Poor night vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256527" "04214" "00361122" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = hand movement, OS = counting fingers at 30 cm distance. Slit-lamp biomicroscopy: normal-appearing cornea, anterior chamber, and iris bilaterally. Both lenses showed anterior and posterior subcapsular cataract. The vitreous demonstrated regional opacity due to fibrous condensation. Fundus: disclosed diffuse and dense pigmentary degeneration in the midperipheral and peripheral retinas. The macular area sbowed round atrophie chorioretinal degeneration in each eye." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256528" "04214" "00361123" "04036" "Familial, autosomal dominant" "" "visual acuity: correctable to 0.6 OD with -7.5-1.5X125 and 0.5 OS with— 6.0—1.0X80 refraction. Slit-lamp biomicroscopy: the cornea, anterior chamber, and iris to bave a normal appearance in each eye. Both lenses showed incipient cataract. The vitreous had regional condensation bilaterally. Fundus: diffuse retinal degeneration in the midperipheral and peripheral areas, with pigment clumping in each eye. Surrounding the fovea were yellowish spots that appeared as bull\'seye maculopathy in each eye." "11y-20y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256529" "04214" "00361124" "04036" "Familial, autosomal dominant" "" "visual acuity: 0.6 OD with -5.0 D sphere and 0.4 OS with -5.0 D sphere refraction. Slit-lamp biomicroscopy: normal appearances of the cornea, anterior chamber, iris, and lens in each eye. The vitreous demonstrated regional condensation in each eye." "10y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256530" "04214" "00361125" "04036" "Familial, autosomal dominant" "" "visual acuity: correctable to 0.9 OU with a refraction of —0.5 D sphere. Slit-lamp examination of the cornea, anterior chamber, iris, and lens were normal in each eye. The vitreous showed slight regional opacity due to fibrous condensation." "11y-20y" "" "Impaired night vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256531" "04214" "00361126" "04036" "Familial, autosomal dominant" "" "visual acuity: corrected to 1.0 OD with -2.5-1.0X100 and 0.9 OS with —2.0—0.5X105 refraction. Slit-lamp examination: normal findings of the cornea, anterior chamber, iris, and lens in both eyes. The vitreous showed slight regional condensation in each eye. Fundus: diffuse pigmentary retinal degeneration in the midperipheral and peripheral fundus. The macular area exhibited normal color. The border between the degenerative and normal areas was located within the vascular arcade. Retinal vessels were diffusely attenuated in each eye." "11y-20y" "" "Poor night vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256532" "04214" "00361127" "04036" "Familial, autosomal dominant" "" "visual acuity: corrected to 1.0 OU with —3.OD sphere. Slitlamp examination: bilaterally normal findings in the cornea, anterior chamber, iris, and lens. Fundus: a normal-appearing central portion and a mildly degenerative change in the peripheral area, with sparse pigmentary clumping." "11y-20y" "" "Slightly impaired night vision." "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256533" "04214" "00361128" "04036" "Familial, autosomal dominant" "" "visual acuity: 0.6 OD with a refraction of —4.0 diopter (D) sphere and cylinder of —4.0 DX5 and 0.5 OS with a —1.5 —3.0X75 refraction. Because of the relatively large amount of astigmatism, refractive amblyopia was suspected. Slit-lamp biomicroscopic findings in the cornea, anterior chamber, iris, and lens were normal in each eye." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256534" "04214" "00361129" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256535" "04214" "00361130" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256536" "04214" "00361131" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256537" "04214" "00361132" "04036" "Familial, autosomal dominant" "" "Mild retinitis pigmentosa with visual field constrictions and a history of night blindness." "" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256538" "04214" "00361133" "04036" "Familial, autosomal dominant" "" "adult-onset; adult onset vitelliform macular dystrophy with reduced visual acuity and central visual field loss complicated by the development of a subretinal neovascular membrane in one eye." "" "" "Reduced visual acuity" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256539" "04214" "00361134" "04036" "Familial, autosomal dominant" "" "No clinical signs of IRD yet; On examination including fundoscopy, static perimetry, colour vision testing, electroretinography showed only slight pigment epithelial changes." "" "" "No noticeable visual complaints" "" "" "" "" "" "" "" "" "0000256540" "04214" "00361135" "04036" "Familial, autosomal dominant" "" "No clinical signs of IRD yet; On examination including fundoscopy, static perimetry, colour vision testing, electroretinography showed only slight pigment epithelial changes." "" "" "No noticeable visual complaints" "" "" "" "" "" "" "" "" "0000256541" "04214" "00361136" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256542" "04214" "00361137" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256543" "04214" "00361138" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256544" "04214" "00361139" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256545" "04214" "00361140" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256546" "04214" "00361141" "04036" "Familial, autosomal dominant" "" "Macula: Macula RPE alteration." "36y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256547" "04214" "00361142" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.6, OS = 0.6. Perimetry concentric narrowedto 8 to 15 degrees." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256548" "04214" "00361143" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256549" "04214" "00361144" "04036" "Familial, autosomal dominant" "" "Funduscopy: retinal degeneration outside of the vascular arcades. FAF showed increased autofluorescent rings outside of the maculae and decreased autofluorescence that corresponded to the severe retinal degeneration" "54y" "" "Visual field constriction" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256550" "04214" "00361145" "04036" "Familial, autosomal dominant" "" "Funduscopy: severe retinal degeneration with macular atrophy." "50y-60y" "" "Visual field constriction" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256551" "04214" "00361146" "04036" "Familial, autosomal dominant" "" "Funduscopy: severe retinal degeneration with macular atrophy." "50y-60y" "" "Visual field constriction" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256552" "04214" "00361147" "04036" "Familial, autosomal dominant" "" "Funduscopy: atrophy and severe retinal degeneration with no autofluorescence except for subtle autofluorescent rings. OCT revealed a visible foveal ellipsoid zone (EZ) in his right eye and macular atrophy with subfoveal fibrosis in his left eye" "55y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256553" "04214" "00361148" "04036" "Familial, autosomal dominant" "" "Funduscopy: mild retinal degeneration in the peripheral retina at least in his right eye." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256554" "04214" "00361149" "04036" "Familial, autosomal dominant" "" "Funduscopy: generalized retinal degeneration, except for the macular areas, which exhibited slight atrophic changes. FAF: indicated that the autofluorescent region was only found in the macula, with OCT revealing a visible foveal EZ in both eyes." "45y" "" "Visual field constriction" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256555" "04214" "00361150" "04036" "Familial, autosomal dominant" "" "Funduscopy: tiny yellow pigmented/vitelliform lesions in both foveae and retinal degeneration, which was more notable in the inferior quadrants versus the other quadrants. These findings corresponded to the increased autofluorescent regions. OCT revealed hyperreflective accumulation in both foveae." "44y" "" "Visual field constriction" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256556" "04214" "00361151" "04036" "Familial, autosomal dominant" "" "Funduscopy: generalized retinal degeneration with macular atrophy in both eyes." "50y-60y" "" "Visual field constriction" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256558" "04214" "00361153" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/30. ERG: Not performed." "57y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256559" "04214" "00361154" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256560" "04214" "00361155" "04036" "Familial, autosomal dominant" "" "The dystrophy was characterised by discrete yellow-white subretinal lesions of varying size throughout the macula with some involvement nasal to the disc. Subretinal pigment accumulation was also evident close to the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256561" "04214" "00361156" "04036" "Familial, autosomal dominant" "" "The dystrophy was characterised by discrete yellow-white subretinal lesions of varying size throughout the macula with some involvement nasal to the disc. Subretinal pigment accumulation was also evident close to the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256562" "04214" "00361157" "04036" "Familial, autosomal dominant" "" "The dystrophy was characterised by discrete yellow-white subretinal lesions of varying size throughout the macula with some involvement nasal to the disc. Subretinal pigment accumulation was also evident close to the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256563" "04214" "00361158" "04036" "Familial, autosomal dominant" "" "The dystrophy was characterised by discrete yellow-white subretinal lesions of varying size throughout the macula with some involvement nasal to the disc. Subretinal pigment accumulation was also evident close to the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256564" "04214" "00361159" "04036" "Familial, autosomal dominant" "" "The dystrophy was characterised by discrete yellow-white subretinal lesions of varying size throughout the macula with some involvement nasal to the disc. Subretinal pigment accumulation was also evident close to the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256565" "04214" "00361160" "04036" "Familial, autosomal dominant" "" "The dystrophy was characterised by discrete yellow-white subretinal lesions of varying size throughout the macula with some involvement nasal to the disc. Subretinal pigment accumulation was also evident close to the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256566" "04214" "00361161" "04036" "Familial, autosomal dominant" "" "The dystrophy was characterised by discrete yellow-white subretinal lesions of varying size throughout the macula with some involvement nasal to the disc. Subretinal pigment accumulation was also evident close to the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256567" "04214" "00361162" "04036" "Familial, autosomal dominant" "" "The dystrophy was characterised by discrete yellow-white subretinal lesions of varying size throughout the macula with some involvement nasal to the disc. Subretinal pigment accumulation was also evident close to the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256568" "04214" "00361163" "04036" "Unknown" "" "" "11y-30y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256569" "04214" "00361164" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256570" "04214" "00361165" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256571" "04214" "00361166" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256572" "04214" "00361167" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256573" "04214" "00361168" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256574" "04214" "00361169" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256575" "04214" "00361170" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256576" "04214" "00361171" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256577" "04214" "00361172" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256578" "04214" "00361173" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256579" "04214" "00361174" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256580" "04214" "00361175" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256581" "04214" "00361176" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256582" "04214" "00361177" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256583" "04214" "00361178" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256584" "04214" "00361179" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256585" "04214" "00361180" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256586" "04214" "00361181" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256587" "04214" "00361182" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256588" "04214" "00361183" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256589" "04214" "00361184" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/20. ERG: Abnormal." "20y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256590" "04214" "00361185" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/30. ERG: Not performed." "36y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256591" "04214" "00361186" "04036" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256592" "04214" "00361187" "04036" "Familial, autosomal recessive" "" "adult-onset; visual acuity: 6/6 (OD) and 6/12 (OS). Fundus examination was normal, except for small discrete yellow deposits at the level of the RPE centered in fovea of each eye." "" "" "Disorted central vision in left eye." "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256593" "04214" "00361188" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256594" "04214" "00361189" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256595" "04214" "00361190" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256596" "04214" "00361191" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256597" "04214" "00361192" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256598" "04214" "00361193" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256599" "04214" "00361194" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256600" "04214" "00361195" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256601" "04214" "00361196" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 0.6, OS = 0.5. EOG: 158/150" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256602" "04214" "00361197" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256603" "04214" "00361198" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256604" "04214" "00361199" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256605" "04214" "00361200" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256606" "04214" "00361201" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256607" "04214" "00361202" "04036" "Unknown" "" "visual acuity: OD = counting fingers, OS = 20/600. ERG: Normal." "60y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256608" "04214" "00361203" "04036" "Familial, autosomal dominant" "" "mid thirties onset; adult-onset; visual acuity: 6/6 (OD) and 6/12 (OS). Fundus examination was normal, except for small discrete yellow deposits at the level of the RPE centered in fovea of each eye." "" "" "Poor night vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256609" "04214" "00361204" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/50, OS = 20/16; Retinal phenotype: No significant atrophy;" "58y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256610" "04214" "00361205" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256611" "04214" "00361206" "04036" "Isolated (sporadic)" "" "adult-onset; visual acuity: 20/25 in the right eye, 20/40 in the left eye. Visual field testing: Normal. ffERG: Normal" "34y" "" "Metamorphopsia" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256612" "04214" "00361207" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256613" "04214" "00361208" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256614" "04214" "00361209" "04036" "Familial, autosomal dominant" "" "Fundus: Central RPE atrophy. ERG: Not determined." "48y" "" "Loss of visual acuity" "" "" "" "" "" "" "pattern dystrophy" "" "0000256615" "04214" "00361210" "04036" "Familial, autosomal dominant" "" "No clinical phenotypic information" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256616" "04214" "00361211" "04036" "Familial, autosomal dominant" "" "No clinical phenotypic information" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256617" "04214" "00361212" "04036" "Familial, autosomal dominant" "" "Visual acuity : OD = 20/50 OS =_x005F_x0002_20/80. Fundus: normal disk and retinal vessels. There werenumerous foci of yellow spots in the perifoveal area and inthe area surrounding the foveal avascular zone with someconfluent drusen like spots at the level of the pigmentepithelium." "" "" "Diminished visual acuity" "" "" "" "" "" "" "pattern dystrophy" "" "0000256618" "04214" "00361213" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20 OS = 20/20. Fundus: normal disk and retinal ves-sels. There were yellow crescent andfishtail depositsthroughout the macular region.Theseflecks were deep to the retina at the level of thepigment epithelium. The fovea had pigmentary changeswith minimal atrophy. Both eyes were affected." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256619" "04214" "00361214" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20 OS = 20/25. Fundus: normal disk and vessels. There was a pigmentedyellow spot in the right eye fovea, and overallless yellowflecks than the propositus or her brother. The pigmentary alteration in the foveawas associated with atrophy of the retinal pigment epithe-lium (RPE)." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256620" "04214" "00361215" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20 OS = 20/20. Fundus: normal disk and vessels. Each perifoveal regionhad yellowish spots with lightly pigmented borders sur-rounding some of the spots, which were clustered aroundand in the fovea." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256621" "04214" "00361216" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256622" "04214" "00361217" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256623" "04214" "00361218" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256624" "04214" "00361219" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256625" "04214" "00361220" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256626" "04214" "00361221" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256627" "04214" "00361222" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256628" "04214" "00361223" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256629" "04214" "00361224" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256630" "04214" "00361225" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256631" "04214" "00361226" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256632" "04214" "00361227" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256633" "04214" "00361228" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256634" "04214" "00361229" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256635" "04214" "00361230" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256636" "04214" "00361231" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256637" "04214" "00361232" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256638" "04214" "00361233" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256639" "04214" "00361234" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256640" "04214" "00361235" "04036" "Familial, autosomal dominant" "" "Maculae of affected individuals in these families showed only a few yellow-white or pigmented subretinal deposits in a parafoveal distribution." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256641" "04214" "00361236" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256642" "04214" "00361237" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256643" "04214" "00361238" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256644" "04214" "00361239" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256645" "04214" "00361240" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256646" "04214" "00361241" "04036" "Familial, autosomal dominant" "" "Patients often exhibit yellow, orange, or gray deposits in the macula that disrupt central vision." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256647" "04214" "00361242" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256648" "04214" "00361243" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256649" "04214" "00361244" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256650" "04214" "00361245" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256651" "04214" "00361246" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256652" "04214" "00361247" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256653" "04214" "00361248" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256654" "04214" "00361249" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256655" "04214" "00361250" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256656" "04214" "00361251" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256657" "04214" "00361252" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256658" "04214" "00361253" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256659" "04214" "00361254" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256660" "04214" "00361255" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256661" "04214" "00361256" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256662" "04214" "00361257" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256663" "04214" "00361258" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256664" "04214" "00361259" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256665" "04214" "00361260" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256666" "04214" "00361261" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256667" "04214" "00361262" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256668" "04214" "00361263" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256669" "04214" "00361264" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256670" "04214" "00361265" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256671" "04214" "00361266" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256672" "04214" "00361267" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256673" "04214" "00361268" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256674" "04214" "00361269" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256675" "04214" "00361270" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256676" "04214" "00361271" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256677" "04214" "00361272" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256678" "04214" "00361273" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256679" "04214" "00361274" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256680" "04214" "00361275" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256681" "04214" "00361276" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256682" "04214" "00361277" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256683" "04214" "00361278" "04036" "Familial, autosomal dominant" "" "juvenile" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256684" "04214" "00361279" "04036" "Familial, autosomal dominant" "" "juvenile" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256685" "04214" "00361280" "04036" "Familial, autosomal dominant" "" "juvenile" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256686" "04214" "00361281" "04036" "Familial, autosomal dominant" "" "juvenile" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256687" "04214" "00361282" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256688" "04214" "00361283" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256689" "04214" "00361284" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256690" "04214" "00361285" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256691" "04214" "00361286" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256692" "04214" "00361287" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256693" "04214" "00361288" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256694" "04214" "00361289" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256695" "04214" "00361290" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256696" "04214" "00361291" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256697" "04214" "00361292" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256698" "04214" "00361293" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256699" "04214" "00361294" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256700" "04214" "00361295" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256701" "04214" "00361296" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256702" "04214" "00361297" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256703" "04214" "00361298" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256704" "04214" "00361299" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256705" "04214" "00361300" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256706" "04214" "00361301" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256707" "04214" "00361302" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256708" "04214" "00361303" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256709" "04214" "00361304" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256710" "04214" "00361305" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256711" "04214" "00361306" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256712" "04214" "00361307" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256713" "04214" "00361308" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256714" "04214" "00361309" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256715" "04214" "00361310" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256716" "04214" "00361311" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256717" "04214" "00361312" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256718" "04214" "00361313" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256719" "04214" "00361314" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256720" "04214" "00361315" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256721" "04214" "00361316" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256722" "04214" "00361317" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256723" "04214" "00361318" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256724" "04214" "00361319" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256725" "04214" "00361320" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256726" "04214" "00361321" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256727" "04214" "00361322" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256728" "04214" "00361323" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256729" "04214" "00361324" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256730" "04214" "00361325" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256731" "04214" "00361326" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256732" "04214" "00361327" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256733" "04214" "00361328" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256734" "04214" "00361329" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256735" "04214" "00361330" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "0000256736" "04214" "00361331" "04036" "Familial, autosomal dominant" "" "atypical" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256737" "04214" "00361332" "04036" "Familial, autosomal dominant" "" "atypical" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256738" "04214" "00361333" "04036" "Familial, autosomal dominant" "" "atypical" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256739" "04214" "00361334" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256740" "04214" "00361335" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256741" "04214" "00361336" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256742" "04214" "00361337" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256743" "04214" "00361338" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256744" "04214" "00361339" "04036" "Unknown" "" "visual acuity: OD = 20/16, OS = 20/20. ERG: Not performed." "49y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256745" "04214" "00361340" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = hand movement, OS = hand movement. ERG: Not performed." "30y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256746" "04214" "00361341" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/63, OS = 20/20. ERG: Not performed." "36y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256747" "04214" "00361342" "04036" "Unknown" "" "visual acuity: OD = counting fingers, OS = 20/400. ERG: Abnormal." "32y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256748" "04214" "00361343" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/20. ERG: Abnormal." "52y" "" "" "" "" "" "" "" "" "choroideremia" "" "0000256749" "04214" "00361344" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/40. ERG: Not performed." "38y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256750" "04214" "00361345" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/30. ERG: Not performed" "39y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256751" "04214" "00361346" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/600, OS = 20/30. ERG: Not performed." "41y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256752" "04214" "00361347" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20, OS = 20/60. ERG: Not performed." "30y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256753" "04214" "00361348" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/60, OS = 20/400. ERG: Not performed." "58y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256754" "04214" "00361349" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/50, OS = 20/30. ERG: Not performed." "30y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256755" "04214" "00361350" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/40. ERG: Abnormal." "58y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256756" "04214" "00361351" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/160, OS = 20/50. ERG: Abnormal." "12y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256757" "04214" "00361352" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/50, OS = 20/63. ERG: Abnormal." "70y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256758" "04214" "00361353" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/32. ERG: Not performed." "56y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256759" "04214" "00361354" "04036" "Unknown" "" "visual acuity: OD = 20/63, OS = 20/200. ERG: Abnormal." "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256760" "04214" "00361355" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG: Abnormal." "35y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256761" "04214" "00361356" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/30. ERG: Abnormal." "60y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256762" "04214" "00361357" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/40. ERG: Abnormal." "57y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256763" "04214" "00361358" "04036" "Unknown" "" "visual acuity: OD = 20/80, OS = 20/60. ERG: Abnormal." "40y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256764" "04214" "00361359" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/20. ERG: Not performed." "32y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256765" "04214" "00361360" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = counting fingers, OS = 20/252. ERG: Not performed." "40y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256766" "04214" "00361361" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/80, OS = 20/25. ERG: Not performed." "45y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256767" "04214" "00361362" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS =20/63 . ERG: Not performed." "24y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256768" "04214" "00361363" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/25. ERG: Not performed." "37y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256769" "04214" "00361364" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/25. ERG: Abnormal." "64y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256770" "04214" "00361365" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/40. ERG: Abnormal." "55y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256771" "04214" "00361366" "04036" "Unknown" "" "visual acuity: OD = 20/72, OS = 20/76. ERG: Abnormal." "60y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256772" "04214" "00361367" "04036" "Unknown" "" "visual acuity: OD = 20/16, OS = 20/20. ERG: Normal." "32y" "" "" "" "" "" "" "" "" "Doyne honeycomb dystrophy" "" "0000256773" "04214" "00361368" "04036" "Unknown" "" "visual acuity: OD = 20/30, OS = 20/70. ERG: Normal." "40y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256774" "04214" "00361369" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/25. ERG: Abnormal." "44y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256775" "04214" "00361370" "04036" "Unknown" "" "visual acuity: OD = 20/100, OS = 20/100. ERG: Not performed." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256776" "04214" "00361371" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/30. ERG: Not performed." "37y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256777" "04214" "00361372" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/40. ERG: Abnormal." "43y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256778" "04214" "00361373" "04036" "Unknown" "" "visual acuity: OD = 20/40, OS = 20/80. ERG: Abnormal." "42y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256779" "04214" "00361374" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256780" "04214" "00361375" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256781" "04214" "00361376" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256782" "04214" "00361377" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256783" "04214" "00361378" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256784" "04214" "00361379" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256785" "04214" "00361380" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256786" "04214" "00361381" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256787" "04214" "00361382" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256788" "04214" "00361383" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256789" "04214" "00361384" "04036" "Familial, autosomal dominant" "" "They don\'t mention phenotypic characteristics per patient individualy, but gave a summary regarding all PRPH2 carriers they\'ve identified. Fundus examination revealed the presence of pigment deposits in 73% of the patients with a mean age of 45 6 18 years. Fundus autofluorescence imaging revealed abnormalities in 62.9% (age 47 6 18 years), including macular autofluorescence ring and atrophic spots in periphery." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256790" "04214" "00361385" "04036" "Familial, autosomal dominant" "" "Reduced visual acuity in conjunction with a retinal pattern dystrophy." "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256791" "04214" "00361386" "04036" "Familial, autosomal dominant" "" "No clinical information" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256792" "04214" "00361387" "04036" "Familial, autosomal dominant" "" "early onset; visual acuity: OD = N/A, OS = N/A. Refraction: OD = -8.0, OS = -6.0. Axial length: OD = 24.97, OS = 24.52." "" "" "" "" "" "" "" "" "" "high myoipia" "" "0000256793" "04214" "00361388" "04036" "Familial, autosomal dominant" "" "early onset; visual acuity: OD = N/A, OS = N/A. Refraction: OD = -8.0, OS = -10.0. Axial length: OD = 25.4, OS = 25.73." "" "" "" "" "" "" "" "" "" "high myoipia" "" "0000256794" "04214" "00361389" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256795" "04214" "00361390" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256796" "04214" "00361391" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256797" "04214" "00361392" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256798" "04214" "00361393" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256799" "04214" "00361394" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256800" "04214" "00361395" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256801" "04214" "00361396" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256802" "04214" "00361397" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256803" "04214" "00361398" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256804" "04214" "00361399" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256805" "04214" "00361400" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256806" "04214" "00361401" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256807" "04214" "00361402" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256808" "04214" "00361403" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256809" "04214" "00361404" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256810" "04214" "00361405" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256811" "04214" "00361406" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256812" "04214" "00361407" "04036" "Isolated (sporadic)" "" "Central pigment epithelium defects." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000256813" "04214" "00361408" "04036" "Familial, autosomal dominant" "" "Visual field was constricted to 10° with stimuli I4e and to 20° with stimuli V4e. Best corrected visual acuity was 20/30 and ophthalmoscopy revealed attenuated vessels and spicular pigmentation in all four quadrants. Final dark adapted rod thresholds were raised by at least 2–3 log units." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256814" "04214" "00361409" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.9, OS = 0.9. Visual field testing: Central scotoma (OS)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256815" "04214" "00361410" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.4, OS = 0.04. Visual field testing = Central scotoma I/4, paracentral III/4." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256816" "04214" "00361411" "04036" "Unknown" "" "visual acuity: OD = counting fingers, OS = 20/600. ERG: Not performed." "12y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256817" "04214" "00361412" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/32. ERG: Not performed." "45y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256818" "04214" "00361413" "04036" "Unknown" "" "visual acuity: OD = 20/80, OS = 20/60. ERG: Not performed." "41y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256819" "04214" "00361414" "04036" "Familial, autosomal dominant" "" "visual acuity last visit: OD = 20/15, OS = 20/15. Fundus: Nonspecific-appearing yellowish foveal lesions, that have a more confluent in appearance in the right eye. 12 years later a foveal lesion with a somewhat more characteristicbutterfly or pattern-shape arose in left eye." "26y" "" "Metamorphopsia" "" "" "" "" "" "" "pattern dystrophy" "" "0000256820" "04214" "00361415" "04036" "Familial, autosomal dominant" "" "Fundus: Yellowish lesions in a partially radial configuration in both eyes, which is a characteristic of the foveal changes seen in patients with pattern dystrophy." "30y-40y" "" "Reduced clarity of central vision" "" "" "" "" "" "" "pattern dystrophy" "" "0000256821" "04214" "00361416" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/25 (-2), OS = 20/20 (-2). Slit-lampbiomicroscopy: mild-to-moderate nuclear sclerosis,afibrillar vitreous with isolated cells in both eyes, andasteroid hyalosis in the right eye." "" "" "No viusal complaints" "" "" "" "" "" "" "pattern dystrophy" "" "0000256822" "04214" "00361417" "04036" "Familial, autosomal dominant" "" "All affected patients demonstrated perifoveal deposits of yellow" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256823" "04214" "00361418" "04036" "Familial, autosomal dominant" "" "All affected patients demonstrated perifoveal deposits of yellow" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256824" "04214" "00361419" "04036" "Familial, autosomal dominant" "" "All affected patients demonstrated perifoveal deposits of yellow" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256825" "04214" "00361420" "04036" "Familial, autosomal dominant" "" "All affected patients demonstrated perifoveal deposits of yellow" "" "" "" "" "" "" "" "" "" "butterfly shaped pattern dystrophy" "" "0000256826" "04214" "00361421" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/50. ERG: Not performed." "47y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256827" "04214" "00361422" "04036" "Unknown" "" "visual acuity: OD = 20/20, OS = 20/80. ERG: Not performed." "59y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256828" "04214" "00361423" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/32. ERG: Not performed." "37y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256829" "04214" "00361424" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.7, OS = 0.8. ERG: Not performed." "" "" "Poor vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256830" "04214" "00361425" "04036" "Familial, autosomal dominant" "" "Not clinically examined" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256831" "04214" "00361426" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.2, OS = 0.2. ERG: Not performed." "55y" "" "Poor vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256832" "04214" "00361427" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 0.2 OS = 0.4. EOG: 197/198" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256833" "04214" "00361428" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256834" "04214" "00361429" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/160 OS = 20/160. Slit-lamp biomicroscopy: normal anterior SEQments. Fundus examination of the right eye showed a prominent macular lesion with subretinal hemorrhage. The left eye exhibited diffuse depigmentation of the central posterior pole including tiny clumps of pigment and hard drusen-like deposits. Retinal vessels were not attenuated. The optic nerve heads appeared normal. The peripheral retina exhibited multiple miniscule hard drusen-like structures. Fluorescein angiography revealed an occult subfoveal neovascular membrane with pigment epithelial detachment in the right eye. The left eye showed central granular atrophic changes in the macula that did not extend beyond the vessel arcades." "" "" "Reading difficulties and metamorphopsia in the right eye" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256835" "04214" "00361430" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 20/20 OS = 20/63. The right eye had a normal anterior SEQment, while the left eye exhibited advanced cataract and strabismus. Fundus examination: normal optic nerve heads and retinal vessels. Both eyes exhibited a central oval-shaped area of retinal pigment epithelium (RPE) depigmentation including single clumps of pigment. Fundus AF imaging: speckled pattern with single spots of high and low AF in correspondence to spots of hyperpigmentation and incipient geographic atrophy, respectively. The peripheral retina showed isolated hard drusen and a peripheral scar after regression of choroidal melanoma in the left eye." "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000256836" "04214" "00361431" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256837" "04214" "00361432" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256838" "04214" "00361433" "04036" "Unknown" "" "visual acuity: OD = 20/80, OS = 20/200. ERG: Nnot performed." "16y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256839" "04214" "00361434" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256840" "04214" "00361435" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256841" "04214" "00361436" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000256842" "04214" "00361437" "04036" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256843" "04214" "00361438" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/30. ERG: Not performed." "" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256844" "04214" "00361439" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/32. ERG: Not performed." "71y" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256845" "04214" "00361440" "04036" "Unknown" "" "visual acuity: OD = 20/400, OS = 20/300. ERG: Not performed.." "19y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256846" "04214" "00361441" "04036" "Unknown" "" "visual acuity: OD = 20/25, OS = 20/30. ERG: Not performed." "60y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256847" "04214" "00361442" "04036" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy / pseudo-Stargardt disease" "" "0000256848" "04214" "00361443" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "pattern dystrophy" "" "0000256849" "04214" "00361444" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256850" "04214" "00361445" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256851" "04214" "00361446" "04036" "Familial, autosomal dominant" "" "Decreased visual acuity of 0.2 and a severely constricted visual field, with less than the central 5° of radius remaining in each eye." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256852" "04214" "00361447" "04036" "Isolated (sporadic)" "" "Rod response was slightly reduced, while cone responses werre severely reduced." "<3m" "" "Nystagmus" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256853" "04214" "00361448" "04036" "Familial, autosomal dominant" "" "adult-onset; visual acuity: OD = 0.6 OS = 0.2. EOG: 155/165" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256854" "04214" "00361449" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/40. ERG: Abnormal." "32y" "" "" "" "" "" "" "" "" "pseudo-Stargardt disease" "" "0000256855" "04214" "00361450" "04036" "Unknown" "" "visual acuity: OD = 20/50, OS = 20/40. ERG: Abnormal." "43y" "" "" "" "" "" "" "" "" "Best disease" "" "0000256856" "04214" "00361451" "04036" "Isolated (sporadic)" "" "visual acuity: OD = 20/15, OS = 20/15. Fundus: yellowish lesions within the retina of each eye. Slit-lamp biomicroscopy:normalanterior SEQment, including the cornea, anterior chamber,and lens of each eye." "46y" "" "Waviness in the central region in the left eye and blurred areas in the lower central field in the right eye" "" "" "" "" "" "" "pattern dystrophy" "" "0000256857" "04214" "00361452" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256858" "04214" "00361453" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000256859" "04214" "00361454" "04036" "Unknown" "" "visual acuity: OD = 20/32, OS = 20/200. ERG: Abnormal." "4y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000256860" "04214" "00361455" "04036" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256861" "04214" "00361456" "04036" "Unknown" "" "adult-onset; Slightly reduced EOG Arden index bilaterally" "" "" "" "" "" "" "" "" "" "vitelliform macular dystrophy" "" "0000256862" "04214" "00361457" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 5/10 OS = 6/10." "17y" "" "Poor night vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258826" "04214" "00363465" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258860" "04214" "00363510" "00000" "Familial, autosomal dominant" "32y" "childhood onset; visual acuity R 0.3, L 0.4; bilateral attenuation of retinal arterioles, widespread RPE degeneration, the degenerated RPE area confused in the macular." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258968" "04214" "00363618" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinal dystrophy, unspecfied" "" "0000267918" "04214" "00372639" "00000" "Familial, autosomal dominant" "22y" "see paper; ..." "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268639" "04214" "00373363" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268751" "04214" "00373475" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268756" "04214" "00373480" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269026" "04214" "00373817" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269076" "04214" "00373867" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269111" "04214" "00373902" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000269122" "04214" "00373913" "00000" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269123" "04214" "00373914" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269158" "04214" "00373949" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270626" "04214" "00375412" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270638" "04214" "00375424" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270647" "04214" "00375433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271379" "04214" "00376169" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" "" "0000271382" "04214" "00376172" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" "" "0000271383" "04214" "00376173" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" "" "0000271384" "04214" "00376174" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" "" "0000271388" "04214" "00376178" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" "" "0000271389" "04214" "00376179" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" "" "0000271391" "04214" "00376181" "00000" "Di-genic" "" "" "" "" "" "" "" "" "" "" "" "multiplex renitis pigmentosa" "" "0000271520" "04214" "00376312" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Albinism, oculocutaneous LCA/early CRD" "" "0000271713" "04214" "00376506" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000271714" "04214" "00376507" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000271715" "04214" "00376508" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000271716" "04214" "00376509" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000271717" "04214" "00376510" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000271986" "04214" "00376775" "00000" "Familial, autosomal dominant" "55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273017" "04214" "00377871" "00000" "Familial, autosomal dominant" "44y" "" "40y" "" "" "" "" "" "" "" "" "juvenile vitelliform macular dystrophy" "" "0000273018" "04214" "00377872" "00000" "Familial, autosomal dominant" "43y" "" "43y" "" "" "" "" "" "" "" "" "adult vitelliform macular dystrophy" "" "0000273019" "04214" "00377873" "00000" "Familial, autosomal dominant" "58y" "" "55y" "" "" "" "" "" "" "" "" "adult vitelliform macular dystrophy" "" "0000273200" "00112" "00378058" "03508" "Familial, autosomal dominant" "" "HP:0032037, HP:0000662, HP:0001133, HP:0000006, HP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273319" "04214" "00379446" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273362" "04214" "00379489" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273363" "04214" "00379490" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273364" "04214" "00379491" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273397" "04214" "00379524" "00000" "Familial" "40y" "" "" "" "" "" "" "" "" "" "" "Simplex retinitis pigmentosa" "" "0000273606" "00112" "00379752" "03508" "Familial, autosomal dominant" "" "HP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000551,\tHP:0001288,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273641" "00198" "00379786" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "0000273648" "00112" "00379793" "03508" "Familial, autosomal dominant" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273719" "04214" "00379865" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000274106" "04214" "00380255" "00000" "Unknown" "33y" "decreased visual acuity of 0.2 and a severely constricted visual field, with less than the central 5° of radius remaining in each eye." "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000274162" "04214" "00380311" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy (CD)" "" "0000274195" "04214" "00380344" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274196" "04214" "00380345" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274197" "04214" "00380346" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274198" "04214" "00380347" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274199" "04214" "00380348" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274200" "04214" "00380349" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274201" "04214" "00380350" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274861" "04214" "00381010" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275465" "04214" "00381623" "00000" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" "" "0000275539" "04214" "00381697" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000275594" "04214" "00381752" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275595" "04214" "00381753" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275596" "04214" "00381754" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275597" "04214" "00381755" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275598" "04214" "00381756" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275599" "04214" "00381757" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275758" "04214" "00381916" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000276210" "04214" "00382361" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" "0000276211" "04214" "00382362" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276212" "04214" "00382363" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Pattern dystrophy" "" "0000276213" "04214" "00382364" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276215" "04214" "00382366" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276216" "04214" "00382367" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276217" "04214" "00382368" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Generalized retinal dystrophy (non-syndromic)" "" "0000276218" "04214" "00382369" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276219" "04214" "00382370" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "0000276220" "04214" "00382371" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276221" "04214" "00382372" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276223" "04214" "00382374" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276224" "04214" "00382375" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276432" "04214" "00382583" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276433" "04214" "00382584" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276434" "04214" "00382585" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276435" "04214" "00382586" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276436" "04214" "00382587" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276437" "04214" "00382588" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276438" "04214" "00382589" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276688" "04214" "00382832" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" "" "0000276691" "04214" "00382835" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000276692" "04214" "00382836" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000276853" "04214" "00383063" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276855" "04214" "00383065" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276863" "04214" "00383073" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276876" "04214" "00383086" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276893" "04214" "00383103" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000277303" "04214" "00383518" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy" "" "0000277543" "04214" "00383758" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277583" "04214" "00383798" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277592" "04214" "00383807" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000279993" "04214" "00386190" "00000" "Familial, autosomal dominant" "49y" "" "" "49y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000279994" "04214" "00386191" "00000" "Familial, autosomal dominant" "77y" "" "" "65y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000279995" "04214" "00386192" "00000" "Familial, autosomal dominant" "54y" "" "" "48y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000280013" "04214" "00386210" "00000" "Familial, autosomal dominant" "62y" "" "" "56y" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "" "0000280014" "04214" "00386211" "00000" "Familial, autosomal dominant" "37y" "" "" "30y" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "" "0000280063" "04214" "00386260" "00000" "Familial, autosomal dominant" "41y" "" "" "21y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000280362" "04214" "00386562" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280457" "04214" "00386657" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280514" "04214" "00386714" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280532" "04214" "00386732" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280545" "04214" "00386745" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280552" "04214" "00386752" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280556" "04214" "00386756" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280559" "04214" "00386759" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280567" "04214" "00386767" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280598" "04214" "00386798" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280631" "04214" "00386831" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280635" "04214" "00386835" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280647" "04214" "00386847" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280773" "04214" "00386995" "00000" "Familial, autosomal dominant" "66y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280946" "04214" "00387383" "00000" "Familial, autosomal dominant" "81y" "nuclear lens opacity, total choroidal atrophy, negative family history, BCVA OD/OS: 0.05/FC" "65y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000281082" "04214" "00387519" "00000" "Familial" "" "" "64y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) Multiplex" "" "0000282101" "04214" "00388561" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "57y" "" "" "" "" "" "" "Macular dystrophy" "Retinitis pigmentosa" "" "0000282116" "04214" "00388576" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "66y" "" "" "" "" "" "" "Macular dystrophy" "Retinitis pigmentosa. Tapetoretinian dystrophy" "" "0000282117" "04214" "00388577" "00000" "Familial, autosomal dominant" "" "Non‐syndrom" "" "65y" "" "" "" "" "" "" "Macular dystrophy" "Infectious choroiditis (25 years). Macular degeneratio" "" "0000282119" "04214" "00388579" "00000" "Familial, autosomal dominant" "" "Non‐syndrom" "" "40y" "" "" "" "" "" "" "Macular dystrophy" "Bilateral atrophy, diabetes and hypertension" "" "0000282384" "04214" "00388843" "00000" "Familial, autosomal dominant" "81y" "age at genetic diagnosis mentioned" "" "75y" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "" "0000282433" "04214" "00388892" "00000" "Familial, autosomal dominant" "40y" "age at genetic diagnosis mentioned" "" "34y" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "" "0000282445" "04214" "00388904" "00000" "Familial, autosomal dominant" "45y" "age at genetic diagnosis mentioned" "" "40y" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "" "0000282450" "04214" "00388909" "00000" "Familial, autosomal dominant" "60y" "age at genetic diagnosis mentioned" "" "56y" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "" "0000282458" "04214" "00388917" "00000" "Familial, autosomal dominant" "72y" "age at genetic diagnosis mentioned" "" "68y" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "" "0000282469" "04214" "00388928" "00000" "Isolated (sporadic)" "42y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000282495" "04214" "00388954" "00000" "Familial, autosomal dominant" "60y" "age at genetic diagnosis mentioned" "" "56y" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "" "0000282516" "04214" "00388975" "00000" "Familial, autosomal dominant" "32y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "" "0000282638" "04214" "00389097" "00000" "Familial, autosomal dominant" "64y" "age at genetic diagnosis mentioned" "" "58y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282639" "04214" "00389098" "00000" "Familial, autosomal dominant" "66y" "age at genetic diagnosis mentioned" "" "60y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282640" "04214" "00389099" "00000" "Familial, autosomal dominant" "42y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282720" "04214" "00389179" "00000" "Familial, autosomal dominant" "71y" "age at genetic diagnosis mentioned" "" "67y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000282721" "04214" "00389180" "00000" "Familial, autosomal dominant" "47y" "age at genetic diagnosis mentioned" "" "42y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000282796" "04214" "00389255" "00000" "Familial, autosomal dominant" "52y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282817" "04214" "00389276" "00000" "Familial, autosomal dominant" "36y" "age at genetic diagnosis mentioned" "" "29y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282880" "04214" "00389339" "00000" "Familial, autosomal dominant" "36y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282881" "04214" "00389340" "00000" "Familial, autosomal dominant" "75y" "age at genetic diagnosis mentioned" "" "69y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282882" "04214" "00389341" "00000" "Familial, autosomal dominant" "33y" "age at genetic diagnosis mentioned" "" "27y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282892" "04214" "00389351" "00000" "Familial, autosomal dominant" "67y" "age at genetic diagnosis mentioned" "" "61y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282893" "04214" "00389352" "00000" "Familial, autosomal dominant" "42y" "age at genetic diagnosis mentioned" "" "37y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282923" "04214" "00389382" "00000" "Familial, autosomal dominant" "62y" "age at genetic diagnosis mentioned" "" "57y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282924" "04214" "00389383" "00000" "Familial, autosomal dominant" "66y" "age at genetic diagnosis mentioned" "" "61y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282927" "04214" "00389386" "00000" "Familial, autosomal dominant" "61y" "age at genetic diagnosis mentioned" "" "54y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000282929" "04214" "00389388" "00000" "Familial, autosomal dominant" "55y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282930" "04214" "00389389" "00000" "Familial, autosomal dominant" "78y" "age at genetic diagnosis mentioned" "" "74y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282941" "04214" "00389400" "00000" "Familial, autosomal dominant" "54y" "age at genetic diagnosis mentioned" "" "49y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282952" "04214" "00389411" "00000" "Familial, autosomal dominant" "49y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282953" "04214" "00389412" "00000" "Familial, autosomal dominant" "59y" "age at genetic diagnosis mentioned" "" "55y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282963" "04214" "00389422" "00000" "Familial, autosomal dominant" "57y" "age at genetic diagnosis mentioned" "" "53y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283018" "04214" "00389477" "00000" "Familial, autosomal dominant" "54y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283070" "04214" "00389529" "00000" "Familial, autosomal dominant" "64y" "age at genetic diagnosis mentioned" "" "62y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000283071" "04214" "00389530" "00000" "Familial, autosomal dominant" "34y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283095" "04214" "00389554" "00000" "Familial, autosomal dominant" "61y" "age at genetic diagnosis mentioned" "" "60y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283105" "04214" "00389564" "00000" "Isolated (sporadic)" "50y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283119" "04214" "00389578" "00000" "Familial, autosomal dominant" "43y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283122" "04214" "00389581" "00000" "Familial, autosomal dominant" "75y" "age at genetic diagnosis mentioned" "" "74y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283159" "04214" "00389618" "00000" "Familial, autosomal dominant" "48y" "age at genetic diagnosis mentioned" "" "47y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283171" "04214" "00389630" "00000" "Familial, autosomal dominant" "53y" "age at genetic diagnosis mentioned" "" "49y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283172" "04214" "00389631" "00000" "Familial, autosomal dominant" "74y" "age at genetic diagnosis mentioned" "" "70y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283174" "04214" "00389633" "00000" "Familial, autosomal dominant" "55y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283199" "04214" "00389658" "00000" "Familial, autosomal dominant" "54y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283228" "04214" "00389687" "00000" "Familial, autosomal dominant" "53y" "age at genetic diagnosis mentioned" "" "46y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283252" "04214" "00389711" "00000" "Familial, autosomal dominant" "60y" "age at genetic diagnosis mentioned" "" "59y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283253" "04214" "00389712" "00000" "Familial, autosomal dominant" "58y" "age at genetic diagnosis mentioned" "" "58y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283254" "04214" "00389713" "00000" "Familial, autosomal dominant" "52y" "age at genetic diagnosis mentioned" "" "45y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283259" "04214" "00389718" "00000" "Familial, autosomal dominant" "57y" "age at genetic diagnosis mentioned" "" "50y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283261" "04214" "00389720" "00000" "Familial, autosomal dominant" "40y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283279" "04214" "00389738" "00000" "Familial, autosomal dominant" "61y" "age at genetic diagnosis mentioned" "" "57y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283321" "04214" "00389780" "00000" "Familial, autosomal dominant" "48y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283325" "04214" "00389784" "00000" "Familial, autosomal dominant" "43y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283326" "04214" "00389785" "00000" "Familial, autosomal dominant" "54y" "age at genetic diagnosis mentioned" "" "52y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283348" "04214" "00389807" "00000" "Isolated (sporadic)" "81y" "age at genetic diagnosis mentioned" "" "75y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283361" "04214" "00389820" "00000" "Isolated (sporadic)" "65y" "age at genetic diagnosis mentioned" "" "58y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283363" "04214" "00389822" "00000" "Familial, autosomal dominant" "65y" "age at genetic diagnosis mentioned" "" "64y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283490" "04214" "00389949" "00000" "Isolated (sporadic)" "63y" "age at genetic diagnosis mentioned" "" "61y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283507" "04214" "00389966" "00000" "Isolated (sporadic)" "76y" "age at genetic diagnosis mentioned" "" "75y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283513" "04214" "00389972" "00000" "Isolated (sporadic)" "23y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283578" "04214" "00390038" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000283892" "04214" "00390354" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283893" "04214" "00390355" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283894" "04214" "00390356" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283895" "04214" "00390357" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284221" "04214" "00390733" "00000" "Familial, autosomal dominant" "29y" "Visual acuity right eye/left eye: 10/10_3/10, typical rp changes with bone spicule shaped pigment, deposits in the, mid periphery along with normal retinal areas, normal macula" "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000284332" "04214" "00390844" "00000" "Familial, autosomal recessive" "71y-75y" "" "" "" "" "" "" "" "" "" "" "cone dystrophy (COD)" "" "0000284340" "04214" "00390852" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284341" "04214" "00390853" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284346" "04214" "00390858" "00000" "Familial, autosomal recessive" "41y-45y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284354" "04214" "00390866" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "malattia leventinese (ML)" "" "0000284360" "04214" "00390872" "00000" "Familial, autosomal recessive" "21y-25y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284362" "04214" "00390874" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284363" "04214" "00390875" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284385" "04214" "00390897" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284387" "04214" "00390899" "00000" "Unknown" "51y-55y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284426" "04214" "00390938" "00000" "Unknown" "61y-65y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284440" "04214" "00390952" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284450" "04214" "00390962" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284456" "04214" "00390968" "00000" "Unknown" "51y-55y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284460" "04214" "00390972" "00000" "Unknown" "66y-70y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284461" "04214" "00390973" "00000" "Unknown" "51y-55y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284465" "04214" "00390977" "00000" "Unknown" "56y-60y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284467" "04214" "00390979" "00000" "Unknown" "56y-60y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284476" "04214" "00390988" "00000" "Unknown" "56y-60y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284625" "04214" "00391183" "00000" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284626" "04214" "00391184" "00000" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284627" "04214" "00391185" "00000" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284628" "04214" "00391186" "00000" "Unknown" "34y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284629" "04214" "00391187" "00000" "Unknown" "49y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284630" "04214" "00391188" "00000" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284631" "04214" "00391189" "00000" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284632" "04214" "00391190" "00000" "Unknown" "48y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284633" "04214" "00391191" "00000" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284635" "04214" "00391193" "00000" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284636" "04214" "00391194" "00000" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284637" "04214" "00391195" "00000" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284638" "04214" "00391196" "00000" "Unknown" "54y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284639" "04214" "00391197" "00000" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284640" "04214" "00391198" "00000" "Unknown" "58y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284641" "04214" "00391199" "00000" "Unknown" "57y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284642" "04214" "00391200" "00000" "Unknown" "57y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284643" "04214" "00391201" "00000" "Unknown" "61y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284644" "04214" "00391202" "00000" "Unknown" "63y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284645" "04214" "00391203" "00000" "Unknown" "63y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284646" "04214" "00391204" "00000" "Unknown" "64y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000285649" "04214" "00392373" "00000" "Familial, autosomal dominant" "56y" "best corrected visual acuity right/left eye: 0.1/0.03, electroretinograhy responses: not available" "40y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285863" "04214" "00392616" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Vitelliform macular dystrophy" "Vitelliform macular dystrophy" "" "0000285894" "04214" "00392647" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286024" "04214" "00392778" "00000" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "Retinitis punctata albescens" "Retinitis punctata albescens" "" "0000286025" "04214" "00392779" "00000" "Unknown" "3y" "" "" "" "" "" "" "" "" "" "Retinitis punctata albescens" "Retinitis punctata albescens" "" "0000286585" "04214" "00393344" "00000" "Isolated (sporadic)" "53y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286586" "04214" "00393345" "00000" "Isolated (sporadic)" "41y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286587" "04214" "00393346" "00000" "Isolated (sporadic)" "54y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286674" "04214" "00393468" "00000" "Isolated (sporadic)" "58y" "" "" "" "" "" "" "" "" "" "" "Best disease" "" "0000286853" "04214" "00393647" "00000" "Isolated (sporadic)" "7y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286881" "04214" "00393675" "00000" "Isolated (sporadic)" "70y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287703" "04214" "00394500" "00000" "Familial, autosomal dominant" "53y" "" "27y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287704" "04214" "00394501" "00000" "Familial, autosomal dominant" "27y" "" "16y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287705" "04214" "00394502" "00000" "Familial, autosomal dominant" "62y" "" "10y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287706" "04214" "00394503" "00000" "Familial, autosomal dominant" "30y" "" "14y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287707" "04214" "00394504" "00000" "Familial, autosomal dominant" "58y" "" "38y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000288429" "04214" "00395229" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "PRPH2-associated Stargardt-like macular dystrophy" "Stargardt disease" "" "0000288430" "04214" "00395230" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "PRPH2-associated Stargardt-like macular dystrophy" "Stargardt disease" "" "0000288431" "04214" "00395231" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "PRPH2-associated Stargardt-like macular dystrophy" "Stargardt disease" "" "0000288639" "04214" "00395440" "00000" "Unknown" "43y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: 0/0, family history: yes" "48y" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus" "" "" "0000288640" "04214" "00395441" "00000" "Unknown" "49y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: 0/0, family history: yes" "49y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288641" "04214" "00395442" "00000" "Unknown" "24y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: /, family history: yes" "39y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288642" "04214" "00395443" "00000" "Unknown" "35y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.21/0.3, family history: yes" "68y" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus" "" "" "0000288643" "04214" "00395444" "00000" "Unknown" "20y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.21/0.21, family history: yes" "62y" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus" "" "" "0000288644" "04214" "00395445" "00000" "Unknown" "52y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: 0.1/0.1, family history: yes; choroidal neovascularization" "58y" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus" "" "" "0000288645" "04214" "00395446" "00000" "Unknown" "57y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.1/0, family history: yes" "57y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288646" "04214" "00395447" "00000" "Unknown" "65y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.15/0.21, family history: yes" "67y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288647" "04214" "00395448" "00000" "Unknown" "55y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.4/0.3, last visit: /, family history: yes" "68y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288648" "04214" "00395449" "00000" "Unknown" "66y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/1, last visit: /, family history: yes; choroidal neovascularization" "68y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288649" "04214" "00395450" "00000" "Unknown" "43y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: /, family history: yes" "43y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288650" "04214" "00395451" "00000" "Unknown" "48y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: 0.1/0.21, family history: no" "65y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288651" "04214" "00395452" "00000" "Unknown" "43y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.1/0, family history: yes" "56y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288652" "04214" "00395453" "00000" "Unknown" "48y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0.1, last visit: /, family history: yes" "57y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288653" "04214" "00395454" "00000" "Unknown" "59y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.21/1.6, family history: yes; choroidal neovascularization" "80y" "" "" "" "" "" "" "" "chorioretinal atrophy" "" "" "0000288654" "04214" "00395455" "00000" "Unknown" "41y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.1/0.1, family history: yes" "70y" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus" "" "" "0000288655" "04214" "00395456" "00000" "Unknown" "30y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: /, family history: yes" "43y" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus" "" "" "0000288656" "04214" "00395457" "00000" "Unknown" "59y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 1.3/0.1, last visit: /, family history: yes" "80y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288657" "04214" "00395458" "00000" "Unknown" "48y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.21/0.21, family history: yes" "51y" "" "" "" "" "" "" "" "adult-onset foveomacular vitelliform dystrophy" "" "" "0000288658" "04214" "00395459" "00000" "Unknown" "35y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: /, family history: yes" "51y" "" "" "" "" "" "" "" "butterfly-shaped pattern dystrophy" "" "" "0000288659" "04214" "00395460" "00000" "Unknown" "49y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.4/0, last visit: 0.8/0.21, family history: no" "52y" "" "" "" "" "" "" "" "adult-onset foveomacular vitelliform dystrophy" "" "" "0000289054" "04214" "00395892" "00000" "Unknown" "40y4m" "" "20y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289055" "04214" "00395893" "00000" "Unknown" "59y4m" "" "15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289069" "04214" "00395907" "00000" "Unknown" "55y5m" "" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000293124" "05415" "00400083" "00000" "Familial, autosomal recessive" "" "progressive night blindness and mild to severe hearing impairment, which indicates the diagnosis of USH2; the fundus abnormalities, electroretinography: flattening in the rod and cone responses; optical coherence tomography: reduced photoreceptor layer thickness" "" "" "" "" "" "" "" "" "Usher syndrome type 2" "" "" "0000298839" "04214" "00406352" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000298840" "04214" "00406353" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000298841" "04214" "00406354" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000298842" "04214" "00406355" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000298843" "04214" "00406356" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000298844" "04214" "00406357" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000300555" "04214" "00408439" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis/early cone-rod dystrophy" "" "" "0000310505" "04214" "00419218" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "" "0000310506" "04214" "00419219" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "" "0000310507" "04214" "00419220" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "" "0000310996" "04214" "00419716" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000310997" "04214" "00419717" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311661" "04214" "00420413" "00000" "Familial, autosomal dominant" "55y5m" "" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311732" "04214" "00420484" "00000" "Familial, autosomal dominant" "40y4m" "" "20y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311770" "04214" "00420522" "00000" "Familial, autosomal dominant" "59y4m" "" "15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000317847" "04214" "00426692" "00000" "Familial, autosomal dominant" "" "maculopathy; abnormal cone-derived and rod-derived responses" "" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy (adSTGD3-like)" "" "0000317848" "04214" "00426693" "00000" "Familial, autosomal dominant" "" "maculopathy; abnormal cone-derived and rod-derived responses" "" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy (adSTGD3-like)" "" "0000317849" "04214" "00426694" "00000" "Familial, autosomal dominant" "" "maculopathy; retinal pigmentosa" "" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy (adSTGD3-like)" "" "0000317856" "04214" "00426701" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD)" "" "0000317951" "04214" "00426801" "00000" "Familial, autosomal dominant" "32y" "nyctalopia BCVA was 20/25(+2.25), right, and 20/32(+1.50), left; central cystoid changes, attenuated retinal vessels, bilateral optic nerve drusen, and depigmented appearing periphery; ONL thickness and vision tapered with eccentricity, and ’blind’ regions without discernible ONL showed a thickened, delaminated inner retina" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (RP11)" "" "0000317952" "04214" "00426802" "00000" "Familial, autosomal dominant" "60y" "VA was 20/32 (right) and 20/20 (left); central retin; ONL thickness and vision tapered with eccentricity, and ’blind’ regions without discernible ONL showed a thickened, delaminated inner retinaal pigment epithelium changes were present" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (RP11)" "" "0000318942" "00198" "00427996" "00006" "Unknown" "64y" "" "" "" "" "" "" "" "" "" "MDPT1" "macular dystrophy" "" "0000320394" "00112" "00429522" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320413" "00112" "00429541" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320435" "00112" "00429563" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320460" "00112" "00429588" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320473" "04214" "00429601" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320525" "00112" "00429653" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320704" "04214" "00429832" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320753" "00112" "00429881" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320790" "00112" "00429918" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320800" "00112" "00429928" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320861" "00112" "00429989" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320918" "00112" "00430046" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320943" "00112" "00430071" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320946" "04210" "00430074" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320959" "00112" "00430087" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320976" "00112" "00430104" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321004" "00112" "00430132" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000326634" "02156" "00436456" "04552" "Familial, autosomal dominant" "" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "" "" "" "" "" "" "" "" "RP71" "Retinitis pigmentosa" "" "0000333560" "04214" "00444307" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000336139" "00198" "00446940" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336152" "00198" "00446953" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336234" "00198" "00447035" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "0000336276" "00198" "00447077" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336280" "00198" "00447081" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336292" "00198" "00447093" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336294" "00198" "00447095" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336305" "00198" "00447106" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336357" "00198" "00447158" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336358" "00198" "00447159" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336360" "00198" "00447161" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336374" "00198" "00447175" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336375" "00198" "00447176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336383" "00198" "00447184" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336397" "00198" "00447198" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336523" "00198" "00447324" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336549" "00198" "00447350" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336594" "00198" "00447395" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336691" "00198" "00447492" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336692" "00198" "00447493" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336746" "00198" "00447547" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000336763" "00198" "00447564" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336783" "00198" "00447584" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336797" "00198" "00447598" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336814" "00198" "00447615" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336822" "00198" "00447623" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000339988" "04249" "00450933" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339989" "04249" "00450934" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy (AD)" "" "0000339990" "04249" "00450935" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy-PS" "" "0000339991" "04249" "00450936" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339992" "04249" "00450937" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339993" "04249" "00450938" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339994" "04249" "00450939" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339995" "04249" "00450940" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339996" "04249" "00450941" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339997" "04249" "00450942" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339998" "04249" "00450943" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339999" "04249" "00450944" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340000" "04249" "00450945" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "BCAMD" "" "0000340001" "04249" "00450946" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340002" "04249" "00450947" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340003" "04249" "00450948" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340004" "04249" "00450949" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340005" "04249" "00450950" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340006" "04249" "00450951" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340007" "04249" "00450952" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340008" "04249" "00450953" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340009" "04249" "00450954" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" "" "0000340010" "04249" "00450955" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000340011" "04249" "00450956" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000340012" "04249" "00450957" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340013" "04249" "00450958" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340014" "04249" "00450959" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000340015" "04249" "00450960" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000340016" "04249" "00450961" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340017" "04249" "00450962" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340018" "04249" "00450963" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy-PS" "" "0000340019" "04249" "00450964" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340020" "04249" "00450965" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000340021" "04249" "00450966" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000348587" "04214" "00461087" "00006" "Familial, autosomal dominant" "" "" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2107 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001586" "00001783" "1" "00102" "00102" "2013-08-08 17:35:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000033163" "00033095" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033184" "00033116" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033415" "00033347" "1" "00039" "00039" "2012-09-18 13:39:42" "" "" "SEQ" "DNA" "" "" "0000230681" "00229588" "1" "01807" "01807" "2019-04-04 13:49:02" "" "" "SEQ" "DNA" "" "" "0000230682" "00229589" "1" "01807" "01807" "2019-04-04 13:49:05" "" "" "SEQ" "DNA" "" "" "0000233787" "00232688" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233788" "00232689" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233789" "00232690" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233790" "00232691" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233791" "00232692" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233792" "00232693" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233793" "00232694" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233794" "00232695" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233795" "00232696" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233796" "00232697" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233797" "00232698" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233798" "00232699" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233799" "00232700" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233800" "00232701" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233801" "00232702" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233802" "00232703" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233803" "00232704" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233804" "00232705" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233805" "00232706" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233806" "00232707" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233807" "00232708" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233808" "00232709" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233809" "00232710" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233810" "00232711" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233811" "00232712" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233812" "00232713" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233813" "00232714" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233814" "00232715" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234787" "00233688" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234788" "00233689" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234789" "00233690" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000264235" "00263129" "1" "01807" "01807" "2019-08-23 11:18:46" "" "" "SEQ" "DNA" "" "" "0000272448" "00271296" "1" "03536" "03536" "2019-12-17 15:52:18" "00006" "2019-12-17 16:29:59" "SEQ-NG-IT" "DNA" "blood" "24 RP gene panel" "0000301725" "00300604" "1" "01848" "00006" "2020-05-03 17:19:36" "" "" "SEQ-NG" "DNA" "" "" "0000302792" "00301667" "1" "01807" "01807" "2020-05-20 08:50:01" "" "" "SEQ" "DNA" "" "" "0000302793" "00301668" "1" "01807" "01807" "2020-05-20 08:51:01" "" "" "SEQ" "DNA" "" "" "0000308835" "00307695" "1" "01164" "01164" "2020-08-18 13:00:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000309531" "00308387" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309532" "00308388" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309681" "00308536" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309682" "00308537" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309683" "00308538" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309766" "00308621" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309817" "00308672" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel" "0000310460" "00309315" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310461" "00309316" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310462" "00309317" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310463" "00309318" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310464" "00309319" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310465" "00309320" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310466" "00309321" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310467" "00309322" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310468" "00309323" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310469" "00309324" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310470" "00309325" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310471" "00309326" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310472" "00309327" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310473" "00309328" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310474" "00309329" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000325316" "00324128" "1" "01164" "01164" "2020-12-01 15:00:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000325437" "00324247" "1" "00008" "00008" "2020-12-04 05:00:09" "" "" "SSCA; SEQ" "DNA" "blood" "" "0000327973" "00326760" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327974" "00326761" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327975" "00326762" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327976" "00326763" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327977" "00326764" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327978" "00326765" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327979" "00326766" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327980" "00326767" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327981" "00326768" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327982" "00326769" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327983" "00326770" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327984" "00326771" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327985" "00326772" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327986" "00326773" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327987" "00326774" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327988" "00326775" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327989" "00326776" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327990" "00326777" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327991" "00326778" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327992" "00326779" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327993" "00326780" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327994" "00326781" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327995" "00326782" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327996" "00326783" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327997" "00326784" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327998" "00326785" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000327999" "00326786" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000328000" "00326787" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000329174" "00327959" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329360" "00328145" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES and WGS" "0000329377" "00328162" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329393" "00328178" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329424" "00328209" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329535" "00328320" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329598" "00328384" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329599" "00328385" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329600" "00328386" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329647" "00328433" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000332512" "00331293" "1" "00000" "00006" "2021-02-11 11:33:52" "" "" "SEQ" "DNA" "" "" "0000333204" "00331985" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333205" "00331986" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333206" "00331987" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333207" "00331988" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333208" "00331989" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333209" "00331990" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333210" "00331991" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333211" "00331992" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333212" "00331993" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333213" "00331994" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333214" "00331995" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333215" "00331996" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333216" "00331997" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333217" "00331998" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333218" "00331999" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333219" "00332000" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333220" "00332001" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333221" "00332002" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333222" "00332003" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333223" "00332004" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333224" "00332005" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333225" "00332006" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333226" "00332007" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333227" "00332008" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333228" "00332009" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333229" "00332010" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333230" "00332011" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" "" "0000333231" "00332012" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333232" "00332013" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333427" "00332207" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333428" "00332208" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333429" "00332209" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333489" "00332269" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel" "0000333601" "00332379" "1" "00006" "00006" "2021-02-18 11:35:25" "" "" "SEQ" "DNA" "" "" "0000333722" "00332498" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000334608" "00333383" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334609" "00333384" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334635" "00333410" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334662" "00333437" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334665" "00333440" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334666" "00333441" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334668" "00333443" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334670" "00333445" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334671" "00333446" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334672" "00333447" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334673" "00333448" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334674" "00333449" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334755" "00333529" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334819" "00333593" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334820" "00333594" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334844" "00333618" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334903" "00333677" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334904" "00333678" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334905" "00333679" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334906" "00333680" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334907" "00333681" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334932" "00333706" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334933" "00333707" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334934" "00333708" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334935" "00333709" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334936" "00333710" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334937" "00333711" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334938" "00333712" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334939" "00333713" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334940" "00333714" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334941" "00333715" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334942" "00333716" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334943" "00333717" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334944" "00333718" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334945" "00333719" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334946" "00333720" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334947" "00333721" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334948" "00333722" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334949" "00333723" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334950" "00333724" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334951" "00333725" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334952" "00333726" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334953" "00333727" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334954" "00333728" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000336376" "00335147" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336613" "00335384" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336809" "00335581" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ" "DNA" "" "" "0000336810" "00335582" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ" "DNA" "" "" "0000336811" "00335583" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "" "0000336812" "00335584" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ" "DNA" "" "" "0000336892" "00335664" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336893" "00335665" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336894" "00335666" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336895" "00335667" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336896" "00335668" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336897" "00335669" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336898" "00335670" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336899" "00335671" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336900" "00335672" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336901" "00335673" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336902" "00335674" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336903" "00335675" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336904" "00335676" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336905" "00335677" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336906" "00335678" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336907" "00335679" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336959" "00335730" "1" "00000" "00006" "2021-03-08 18:54:41" "" "" "SEQ-NG" "DNA" "" "31-gene panel" "0000337068" "00335838" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel" "0000337218" "00335988" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360472" "00359234" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360658" "00359416" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360659" "00359417" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360660" "00359418" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360661" "00359419" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360662" "00359420" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360663" "00359421" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360664" "00359422" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360665" "00359423" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360666" "00359424" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360667" "00359425" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000360668" "00359426" "1" "00008" "00008" "2021-03-21 22:15:12" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361193" "00359965" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361194" "00359966" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361195" "00359967" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361196" "00359968" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000361197" "00359969" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361198" "00359970" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361199" "00359971" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000361200" "00359972" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361201" "00359973" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361202" "00359974" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361203" "00359975" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361204" "00359976" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361205" "00359977" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361206" "00359978" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361207" "00359979" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361208" "00359980" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000361209" "00359981" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000361210" "00359982" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000361211" "00359983" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361212" "00359984" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361213" "00359985" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361214" "00359986" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361215" "00359987" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361216" "00359988" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361217" "00359989" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361218" "00359990" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000361219" "00359991" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361220" "00359992" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361221" "00359993" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361222" "00359994" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361223" "00359995" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000361224" "00359996" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361225" "00359997" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361226" "00359998" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361227" "00359999" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "panel" "0000361228" "00360000" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;DHPLC;SEQ" "DNA" "blood" "" "0000361229" "00360001" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361230" "00360002" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361231" "00360003" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361232" "00360004" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361233" "00360005" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361234" "00360006" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361235" "00360007" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361236" "00360008" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361237" "00360009" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361238" "00360010" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361239" "00360011" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361240" "00360012" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361241" "00360013" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361242" "00360014" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361243" "00360015" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361244" "00360016" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361245" "00360017" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000361246" "00360018" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361247" "00360019" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;HD;SEQ" "DNA" "blood" "" "0000361248" "00360020" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;SSCA" "DNA" "blood" "" "0000361249" "00360021" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;HD" "DNA" "blood" "" "0000361250" "00360022" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;HD" "DNA" "blood" "" "0000361251" "00360023" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;SEQ" "DNA" "blood" "" "0000361252" "00360024" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;SEQ" "DNA" "blood" "" "0000361253" "00360025" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361254" "00360026" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361255" "00360027" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361256" "00360028" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361257" "00360029" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES, AGMA" "0000361258" "00360030" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361259" "00360031" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361260" "00360032" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361261" "00360033" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361262" "00360034" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361263" "00360035" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000361264" "00360036" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000361265" "00360037" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES, AGMA" "0000361266" "00360038" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES, AGMA" "0000361267" "00360039" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361268" "00360040" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361269" "00360041" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361270" "00360042" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361271" "00360043" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361272" "00360044" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361273" "00360045" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361274" "00360046" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361275" "00360047" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361276" "00360048" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361277" "00360049" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361278" "00360050" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361279" "00360051" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361280" "00360052" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361281" "00360053" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361282" "00360054" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361283" "00360055" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361284" "00360056" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361285" "00360057" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361286" "00360058" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361287" "00360059" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361288" "00360060" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361289" "00360061" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361290" "00360062" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SSCA" "DNA" "blood" "" "0000361291" "00360063" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361292" "00360064" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361293" "00360065" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361294" "00360066" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361295" "00360067" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361296" "00360068" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361297" "00360069" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361298" "00360070" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361299" "00360071" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "genome-wide enrichment analysis" "0000361300" "00360072" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361301" "00360073" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361302" "00360074" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361303" "00360075" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361304" "00360076" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361305" "00360077" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361306" "00360078" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361307" "00360079" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361308" "00360080" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361309" "00360081" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361310" "00360082" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361311" "00360083" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361312" "00360084" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361313" "00360085" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361314" "00360086" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361315" "00360087" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361316" "00360088" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361317" "00360089" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361318" "00360090" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361319" "00360091" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361320" "00360092" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361321" "00360093" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361322" "00360094" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361323" "00360095" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361324" "00360096" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361325" "00360097" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361326" "00360098" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361327" "00360099" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000361328" "00360100" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361329" "00360101" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361330" "00360102" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361331" "00360103" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361332" "00360104" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361333" "00360105" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361334" "00360106" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361335" "00360107" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361336" "00360108" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361337" "00360109" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361338" "00360110" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361339" "00360111" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361340" "00360112" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361341" "00360113" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361342" "00360114" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361343" "00360115" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361344" "00360116" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361345" "00360117" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361346" "00360118" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361347" "00360119" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361348" "00360120" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361349" "00360121" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361350" "00360122" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361351" "00360123" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361352" "00360124" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361353" "00360125" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361354" "00360126" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361355" "00360127" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361356" "00360128" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361357" "00360129" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361358" "00360130" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361359" "00360131" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;SEQ" "DNA" "blood" "" "0000361360" "00360132" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;SEQ" "DNA" "blood" "" "0000361361" "00360133" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361362" "00360134" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361363" "00360135" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361364" "00360136" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361365" "00360137" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361366" "00360138" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361367" "00360139" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361368" "00360140" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361369" "00360141" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361370" "00360142" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361371" "00360143" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361372" "00360144" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361373" "00360145" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361374" "00360146" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361375" "00360147" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361376" "00360148" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361377" "00360149" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361378" "00360150" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361379" "00360151" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361380" "00360152" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361381" "00360153" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361382" "00360154" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361383" "00360155" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361384" "00360156" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361385" "00360157" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361386" "00360158" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361387" "00360159" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361388" "00360160" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DHPLC;SEQ" "DNA" "blood" "" "0000361389" "00360161" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "" "" "0000361390" "00360162" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361391" "00360163" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361392" "00360164" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361393" "00360165" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361394" "00360166" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361395" "00360167" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361396" "00360168" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361397" "00360169" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361398" "00360170" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361399" "00360171" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361400" "00360172" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361401" "00360173" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361402" "00360174" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361403" "00360175" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361404" "00360176" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361405" "00360177" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361406" "00360178" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361407" "00360179" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361408" "00360180" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361409" "00360181" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361410" "00360182" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361411" "00360183" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361412" "00360184" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361413" "00360185" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361414" "00360186" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361415" "00360187" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361416" "00360188" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361417" "00360189" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361418" "00360190" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361419" "00360191" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361420" "00360192" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361421" "00360193" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361422" "00360194" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361423" "00360195" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361424" "00360196" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361425" "00360197" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361426" "00360198" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361427" "00360199" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361428" "00360200" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361429" "00360201" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361430" "00360202" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361431" "00360203" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361432" "00360204" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361433" "00360205" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361434" "00360206" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361435" "00360207" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361436" "00360208" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361437" "00360209" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361438" "00360210" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361439" "00360211" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arrayCGH;SEQ" "DNA" "blood" "" "0000361440" "00360212" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arrayCGH;SEQ" "DNA" "blood" "" "0000361441" "00360213" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arrayCGH;SEQ" "DNA" "blood" "" "0000361442" "00360214" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361443" "00360215" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361444" "00360216" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361445" "00360217" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361446" "00360218" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361447" "00360219" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361448" "00360220" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361449" "00360221" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361450" "00360222" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361451" "00360223" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361452" "00360224" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361453" "00360225" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361454" "00360226" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361455" "00360227" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361456" "00360228" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361457" "00360229" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361458" "00360230" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361459" "00360231" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361460" "00360232" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361461" "00360233" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361462" "00360234" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361463" "00360235" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361464" "00360236" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361465" "00360237" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361466" "00360238" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361467" "00360239" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361468" "00360240" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361469" "00360241" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361470" "00360242" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361471" "00360243" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361472" "00360244" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361473" "00360245" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361474" "00360246" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361475" "00360247" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361476" "00360248" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361477" "00360249" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361478" "00360250" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361479" "00360251" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361480" "00360252" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361481" "00360253" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361482" "00360254" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361483" "00360255" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361484" "00360256" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361485" "00360257" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361486" "00360258" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361487" "00360259" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361488" "00360260" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361489" "00360261" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361490" "00360262" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361491" "00360263" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361492" "00360264" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361493" "00360265" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361494" "00360266" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361495" "00360267" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361496" "00360268" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361497" "00360269" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361498" "00360270" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361499" "00360271" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361500" "00360272" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361501" "00360273" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361502" "00360274" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361503" "00360275" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361504" "00360276" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361505" "00360277" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361506" "00360278" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361507" "00360279" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361508" "00360280" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361509" "00360281" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361510" "00360282" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361511" "00360283" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361512" "00360284" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361513" "00360285" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361514" "00360286" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361515" "00360287" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361516" "00360288" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361517" "00360289" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361518" "00360290" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361519" "00360291" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361520" "00360292" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361521" "00360293" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361522" "00360294" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361523" "00360295" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361524" "00360296" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361525" "00360297" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361526" "00360298" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361527" "00360299" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361528" "00360300" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361529" "00360301" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361530" "00360302" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361531" "00360303" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361532" "00360304" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361533" "00360305" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361534" "00360306" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361535" "00360307" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361536" "00360308" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000361537" "00360309" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361538" "00360310" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361539" "00360311" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361540" "00360312" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361541" "00360313" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361542" "00360314" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361543" "00360315" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361544" "00360316" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361545" "00360317" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361546" "00360318" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361547" "00360319" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361548" "00360320" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361549" "00360321" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361550" "00360322" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361551" "00360323" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361552" "00360324" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361553" "00360325" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361554" "00360326" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361555" "00360327" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361556" "00360328" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361557" "00360329" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361558" "00360330" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361559" "00360331" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361560" "00360332" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361561" "00360333" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361562" "00360334" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361563" "00360335" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361564" "00360336" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361565" "00360337" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361566" "00360338" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361567" "00360339" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361568" "00360340" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361569" "00360341" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361570" "00360342" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361571" "00360343" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361572" "00360344" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361573" "00360345" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361574" "00360346" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361575" "00360347" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361576" "00360348" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361577" "00360349" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361578" "00360350" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361579" "00360351" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361580" "00360352" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361581" "00360353" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361582" "00360354" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361583" "00360355" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361584" "00360356" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361585" "00360357" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361586" "00360358" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361587" "00360359" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361588" "00360360" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361589" "00360361" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361590" "00360362" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361591" "00360363" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361592" "00360364" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361593" "00360365" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ-NG" "DNA" "blood" "WES" "0000361594" "00360366" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ-NG" "DNA" "blood" "WES" "0000361595" "00360367" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ-NG" "DNA" "blood" "WES" "0000361596" "00360368" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361597" "00360369" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361598" "00360370" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361599" "00360371" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361600" "00360372" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361601" "00360373" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361602" "00360374" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361603" "00360375" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361604" "00360376" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361605" "00360377" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361606" "00360378" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361607" "00360379" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361608" "00360380" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361609" "00360381" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361610" "00360382" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361611" "00360383" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361612" "00360384" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361613" "00360385" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361614" "00360386" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361615" "00360387" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361616" "00360388" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361617" "00360389" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361618" "00360390" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361619" "00360391" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361620" "00360392" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361621" "00360393" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361622" "00360394" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361623" "00360395" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361624" "00360396" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361625" "00360397" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361626" "00360398" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DHPLC;PCR;SEQ" "DNA" "blood" "" "0000361627" "00360399" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DHPLC;PCR;SEQ" "DNA" "blood" "" "0000361628" "00360400" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DHPLC;PCR;SEQ" "DNA" "blood" "" "0000361629" "00360401" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361630" "00360402" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "Asper" "0000361631" "00360403" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361632" "00360404" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361633" "00360405" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361634" "00360406" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361635" "00360407" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361636" "00360408" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361637" "00360409" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361638" "00360410" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361639" "00360411" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361640" "00360412" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ-NG;SEQ" "DNA" "blood" "" "0000361641" "00360413" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361642" "00360414" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361643" "00360415" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361644" "00360416" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361645" "00360417" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361646" "00360418" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361647" "00360419" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361648" "00360420" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361649" "00360421" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361650" "00360422" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361651" "00360423" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361652" "00360424" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361653" "00360425" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361654" "00360426" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361655" "00360427" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361656" "00360428" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361657" "00360429" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361658" "00360430" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361659" "00360431" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361660" "00360432" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361661" "00360433" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361662" "00360434" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361663" "00360435" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361664" "00360436" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361665" "00360437" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361666" "00360438" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361667" "00360439" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361668" "00360440" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361669" "00360441" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361670" "00360442" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361671" "00360443" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361672" "00360444" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361673" "00360445" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361674" "00360446" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361675" "00360447" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361676" "00360448" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361677" "00360449" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361678" "00360450" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361679" "00360451" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361680" "00360452" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361681" "00360453" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361682" "00360454" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361683" "00360455" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361684" "00360456" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361685" "00360457" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361686" "00360458" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361687" "00360459" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "WES, WGS" "0000361688" "00360460" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361689" "00360461" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361690" "00360462" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP" "DNA" "blood" "" "0000361691" "00360463" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP" "DNA" "blood" "" "0000361692" "00360464" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP" "DNA" "blood" "" "0000361693" "00360465" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361694" "00360466" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361695" "00360467" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361696" "00360468" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361697" "00360469" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000361698" "00360470" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361699" "00360471" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361700" "00360472" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361701" "00360473" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361702" "00360474" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361703" "00360475" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361704" "00360476" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361705" "00360477" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361706" "00360478" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361707" "00360479" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361708" "00360480" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361709" "00360481" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361710" "00360482" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361711" "00360483" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361712" "00360484" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361713" "00360485" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361714" "00360486" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361715" "00360487" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361716" "00360488" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361717" "00360489" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361718" "00360490" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361719" "00360491" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361720" "00360492" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361721" "00360493" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361722" "00360494" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361723" "00360495" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361724" "00360496" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361725" "00360497" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361726" "00360498" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361727" "00360499" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361728" "00360500" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361729" "00360501" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361730" "00360502" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361731" "00360503" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361732" "00360504" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361733" "00360505" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361734" "00360506" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361735" "00360507" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361736" "00360508" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361737" "00360509" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361738" "00360510" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361739" "00360511" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361740" "00360512" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361741" "00360513" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361742" "00360514" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361743" "00360515" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361744" "00360516" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361745" "00360517" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361746" "00360518" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361747" "00360519" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361748" "00360520" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361749" "00360521" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361750" "00360522" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361751" "00360523" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361752" "00360524" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "GC-clamped denaturing gradient-gel electrophoresis" "0000361753" "00360525" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "GC-clamped denaturing gradient-gel electrophoresis" "0000361754" "00360526" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361755" "00360527" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361756" "00360528" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361757" "00360529" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361758" "00360530" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361759" "00360531" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361760" "00360532" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361761" "00360533" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361762" "00360534" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361763" "00360535" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361764" "00360536" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361765" "00360537" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361766" "00360538" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361767" "00360539" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361768" "00360540" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361769" "00360541" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361770" "00360542" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361771" "00360543" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361772" "00360544" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361773" "00360545" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361774" "00360546" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000361775" "00360547" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361776" "00360548" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361777" "00360549" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361778" "00360550" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361779" "00360551" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361780" "00360552" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361781" "00360553" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361782" "00360554" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000361783" "00360555" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361784" "00360556" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361785" "00360557" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361786" "00360558" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361787" "00360559" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361788" "00360560" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361789" "00360561" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361790" "00360562" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361791" "00360563" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361792" "00360564" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361793" "00360565" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361794" "00360566" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361795" "00360567" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "two-point linkage analysis" "0000361796" "00360568" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361797" "00360569" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361798" "00360570" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361799" "00360571" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361800" "00360572" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361801" "00360573" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361802" "00360574" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361803" "00360575" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361804" "00360576" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361805" "00360577" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361806" "00360578" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361807" "00360579" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361808" "00360580" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000361809" "00360581" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361810" "00360582" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361811" "00360583" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361812" "00360584" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361813" "00360585" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361814" "00360586" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361815" "00360587" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361816" "00360588" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361817" "00360589" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361818" "00360590" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361819" "00360591" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361820" "00360592" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361821" "00360593" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361822" "00360594" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361823" "00360595" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361824" "00360596" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361825" "00360597" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361826" "00360598" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361827" "00360599" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361828" "00360600" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361829" "00360601" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000361830" "00360602" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "" "0000361831" "00360603" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "" "0000361832" "00360604" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "" "0000361833" "00360605" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "" "0000361834" "00360606" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "" "0000361835" "00360607" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "" "0000361836" "00360608" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "" "0000361837" "00360609" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "" "0000361838" "00360610" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361839" "00360611" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361840" "00360612" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361841" "00360613" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361842" "00360614" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000361843" "00360615" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361844" "00360616" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361845" "00360617" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361846" "00360618" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000361847" "00360619" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000361848" "00360620" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361849" "00360621" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361850" "00360622" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361851" "00360623" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361852" "00360624" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361853" "00360625" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361854" "00360626" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361855" "00360627" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361856" "00360628" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361857" "00360629" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361858" "00360630" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361859" "00360631" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361860" "00360632" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361861" "00360633" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361862" "00360634" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361863" "00360635" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361864" "00360636" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361865" "00360637" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361866" "00360638" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361867" "00360639" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361868" "00360640" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361869" "00360641" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361870" "00360642" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361871" "00360643" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361872" "00360644" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361873" "00360645" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361874" "00360646" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361875" "00360647" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361876" "00360648" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361877" "00360649" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361878" "00360650" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361879" "00360651" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361880" "00360652" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361881" "00360653" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361882" "00360654" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361883" "00360655" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361884" "00360656" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361885" "00360657" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361886" "00360658" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361887" "00360659" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361888" "00360660" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361889" "00360661" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361890" "00360662" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361891" "00360663" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361892" "00360664" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361893" "00360665" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361894" "00360666" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361895" "00360667" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361896" "00360668" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361897" "00360669" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361898" "00360670" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361899" "00360671" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361900" "00360672" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361901" "00360673" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361902" "00360674" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361903" "00360675" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361904" "00360676" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361905" "00360677" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361906" "00360678" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361907" "00360679" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "HD;SSCA;PCR;SEQ" "DNA" "blood" "linkage analysis" "0000361908" "00360680" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCRm;SEQ-NG;SEQ" "DNA" "blood" "" "0000361909" "00360681" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ-NG;SEQ" "DNA" "blood" "" "0000361910" "00360682" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361911" "00360683" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361912" "00360684" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361913" "00360685" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361914" "00360686" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361915" "00360687" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000361916" "00360688" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000361917" "00360689" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361918" "00360690" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361919" "00360691" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361920" "00360692" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361921" "00360693" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361922" "00360694" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361923" "00360695" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361924" "00360696" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361925" "00360697" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361926" "00360698" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361927" "00360699" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361928" "00360700" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361929" "00360701" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361930" "00360702" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361931" "00360703" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361932" "00360704" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361933" "00360705" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361934" "00360706" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000361935" "00360707" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361936" "00360708" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "linkage and homozygosity analyses" "0000361937" "00360709" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361938" "00360710" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000361939" "00360711" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361940" "00360712" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361941" "00360713" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361942" "00360714" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361943" "00360715" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361944" "00360716" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361945" "00360717" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361946" "00360718" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361947" "00360719" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361948" "00360720" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361949" "00360721" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361950" "00360722" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361951" "00360723" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361952" "00360724" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361953" "00360725" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361954" "00360726" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000361955" "00360727" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361956" "00360728" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361957" "00360729" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361958" "00360730" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361959" "00360731" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361960" "00360732" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361961" "00360733" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361962" "00360734" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361963" "00360735" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;DGGE;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361964" "00360736" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;DGGE;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361965" "00360737" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;DGGE;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361966" "00360738" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;DGGE;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361967" "00360739" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;DGGE;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000361968" "00360740" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361969" "00360741" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361970" "00360742" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361971" "00360743" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361972" "00360744" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361973" "00360745" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361974" "00360746" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361975" "00360747" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361976" "00360748" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361977" "00360749" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361978" "00360750" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361979" "00360751" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361980" "00360752" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361981" "00360753" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361982" "00360754" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000361983" "00360755" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000361984" "00360756" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "genome-wide enrichment analysis, WES" "0000361985" "00360757" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361986" "00360758" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361987" "00360759" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000361988" "00360760" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361989" "00360761" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361990" "00360762" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;DGGE;SEQ" "DNA" "blood" "" "0000361991" "00360763" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;DGGE;SEQ" "DNA" "blood" "" "0000361992" "00360764" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361993" "00360765" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361994" "00360766" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361995" "00360767" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000361996" "00360768" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000361997" "00360769" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000361998" "00360770" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000361999" "00360771" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000362000" "00360772" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362001" "00360773" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362002" "00360774" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "gene panel" "0000362003" "00360775" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "gene panel" "0000362004" "00360776" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "genome-wide enrichment analysis, WES" "0000362005" "00360777" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362006" "00360778" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000362007" "00360779" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "" "" "0000362008" "00360780" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "" "" "0000362009" "00360781" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "" "" "0000362010" "00360782" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362011" "00360783" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362012" "00360784" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362013" "00360785" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362014" "00360786" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362015" "00360787" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362016" "00360788" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362017" "00360789" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362018" "00360790" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362019" "00360791" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362020" "00360792" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362021" "00360793" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362022" "00360794" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362023" "00360795" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362024" "00360796" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362025" "00360797" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCRm;SEQ-NG;SEQ" "DNA" "blood" "" "0000362026" "00360798" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000362027" "00360799" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362028" "00360800" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362029" "00360801" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362030" "00360802" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362031" "00360803" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362032" "00360804" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362033" "00360805" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362034" "00360806" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362035" "00360807" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362036" "00360808" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362037" "00360809" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362038" "00360810" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362039" "00360811" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;MLPA;SEQ-NG" "DNA" "blood" "" "0000362040" "00360812" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362041" "00360813" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362042" "00360814" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362043" "00360815" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362044" "00360816" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362045" "00360817" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362046" "00360818" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362047" "00360819" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362048" "00360820" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362049" "00360821" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362050" "00360822" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362051" "00360823" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362052" "00360824" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362053" "00360825" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362054" "00360826" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362055" "00360827" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362056" "00360828" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362057" "00360829" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362058" "00360830" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362059" "00360831" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362060" "00360832" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362061" "00360833" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362062" "00360834" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362063" "00360835" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362064" "00360836" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362065" "00360837" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362066" "00360838" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362067" "00360839" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362068" "00360840" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362069" "00360841" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362070" "00360842" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362071" "00360843" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362072" "00360844" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362073" "00360845" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362074" "00360846" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362075" "00360847" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362076" "00360848" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362077" "00360849" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362078" "00360850" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362079" "00360851" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362080" "00360852" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362081" "00360853" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362082" "00360854" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362083" "00360855" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362084" "00360856" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362085" "00360857" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362086" "00360858" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362087" "00360859" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362088" "00360860" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362089" "00360861" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362090" "00360862" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362091" "00360863" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362092" "00360864" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362093" "00360865" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362094" "00360866" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362095" "00360867" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362096" "00360868" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362097" "00360869" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362098" "00360870" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000362099" "00360871" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362100" "00360872" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362101" "00360873" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362102" "00360874" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362103" "00360875" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362104" "00360876" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362105" "00360877" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362106" "00360878" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362107" "00360879" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362108" "00360880" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362109" "00360881" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362110" "00360882" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362111" "00360883" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000362112" "00360884" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362113" "00360885" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362114" "00360886" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362115" "00360887" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362116" "00360888" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000362117" "00360889" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362118" "00360890" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362119" "00360891" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362120" "00360892" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362121" "00360893" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362122" "00360894" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362123" "00360895" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362124" "00360896" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362125" "00360897" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362126" "00360898" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362127" "00360899" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362128" "00360900" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362129" "00360901" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362130" "00360902" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362131" "00360903" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362132" "00360904" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362133" "00360905" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362134" "00360906" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362135" "00360907" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362136" "00360908" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362137" "00360909" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362138" "00360910" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362139" "00360911" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362140" "00360912" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362141" "00360913" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362142" "00360914" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362143" "00360915" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362144" "00360916" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362145" "00360917" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362146" "00360918" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362147" "00360919" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362148" "00360920" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362149" "00360921" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362150" "00360922" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362151" "00360923" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362152" "00360924" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362153" "00360925" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362154" "00360926" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362155" "00360927" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000362156" "00360928" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362157" "00360929" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362158" "00360930" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362159" "00360931" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362160" "00360932" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "Asper" "0000362161" "00360933" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362162" "00360934" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362163" "00360935" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362164" "00360936" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362165" "00360937" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362166" "00360938" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362167" "00360939" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362168" "00360940" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362169" "00360941" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362170" "00360942" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362171" "00360943" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362172" "00360944" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362173" "00360945" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362174" "00360946" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362175" "00360947" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362176" "00360948" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362177" "00360949" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362178" "00360950" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000362179" "00360951" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000362180" "00360952" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362181" "00360953" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362182" "00360954" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362183" "00360955" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362184" "00360956" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362185" "00360957" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362186" "00360958" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000362187" "00360959" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362188" "00360960" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362189" "00360961" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362190" "00360962" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362191" "00360963" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362192" "00360964" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362193" "00360965" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362194" "00360966" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362195" "00360967" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362196" "00360968" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362197" "00360969" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362198" "00360970" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362199" "00360971" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362200" "00360972" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362201" "00360973" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362202" "00360974" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362203" "00360975" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362204" "00360976" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362205" "00360977" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362206" "00360978" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362207" "00360979" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362208" "00360980" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362209" "00360981" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362210" "00360982" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362211" "00360983" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362212" "00360984" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362213" "00360985" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362214" "00360986" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362215" "00360987" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCRm;SEQ-NG;SEQ" "DNA" "blood" "" "0000362216" "00360988" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000362217" "00360989" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000362218" "00360990" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;PCR;SEQ" "DNA" "blood" "" "0000362219" "00360991" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362220" "00360992" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000362221" "00360993" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "Asper" "0000362222" "00360994" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362223" "00360995" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362224" "00360996" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362225" "00360997" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362226" "00360998" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362227" "00360999" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362228" "00361000" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362229" "00361001" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362230" "00361002" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362231" "00361003" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362232" "00361004" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362233" "00361005" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362234" "00361006" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362235" "00361007" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362236" "00361008" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362237" "00361009" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362238" "00361010" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362239" "00361011" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362240" "00361012" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362241" "00361013" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362242" "00361014" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362243" "00361015" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362244" "00361016" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362245" "00361017" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362246" "00361018" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362247" "00361019" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362248" "00361020" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362249" "00361021" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362250" "00361022" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362251" "00361023" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362252" "00361024" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362253" "00361025" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362254" "00361026" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362255" "00361027" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362256" "00361028" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362257" "00361029" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362258" "00361030" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362259" "00361031" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SSCA;DGGE;SEQ-NG-I" "DNA" "blood" "" "0000362260" "00361032" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362261" "00361033" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362262" "00361034" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362263" "00361035" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362264" "00361036" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362265" "00361037" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362266" "00361038" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362267" "00361039" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362268" "00361040" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362269" "00361041" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362270" "00361042" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362271" "00361043" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362272" "00361044" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362273" "00361045" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000362274" "00361046" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;RFLP;SEQ" "DNA" "blood" "" "0000362275" "00361047" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362276" "00361048" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362277" "00361049" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362278" "00361050" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362279" "00361051" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362280" "00361052" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362281" "00361053" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362282" "00361054" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362283" "00361055" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362284" "00361056" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362285" "00361057" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362286" "00361058" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000362287" "00361059" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362288" "00361060" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362289" "00361061" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362290" "00361062" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362291" "00361063" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362292" "00361064" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362293" "00361065" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362294" "00361066" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362295" "00361067" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362296" "00361068" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362297" "00361069" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000362298" "00361070" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362299" "00361071" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362300" "00361072" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362301" "00361073" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362302" "00361074" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362303" "00361075" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362304" "00361076" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362305" "00361077" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000362306" "00361078" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000362307" "00361079" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362308" "00361080" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362309" "00361081" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362310" "00361082" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362311" "00361083" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362312" "00361084" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362313" "00361085" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362314" "00361086" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362315" "00361087" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362316" "00361088" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000362317" "00361089" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362318" "00361090" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000362319" "00361091" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362320" "00361092" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000362321" "00361093" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362322" "00361094" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362323" "00361095" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362324" "00361096" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362325" "00361097" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362326" "00361098" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000362327" "00361099" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362328" "00361100" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362329" "00361101" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362330" "00361102" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362331" "00361103" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362332" "00361104" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362333" "00361105" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362334" "00361106" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362335" "00361107" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362336" "00361108" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362337" "00361109" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362338" "00361110" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362339" "00361111" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362340" "00361112" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362341" "00361113" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362342" "00361114" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362343" "00361115" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362344" "00361116" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362345" "00361117" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362346" "00361118" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362347" "00361119" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362348" "00361120" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "targeted" "0000362349" "00361121" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362350" "00361122" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362351" "00361123" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362352" "00361124" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362353" "00361125" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362354" "00361126" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362355" "00361127" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362356" "00361128" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362357" "00361129" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362358" "00361130" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362359" "00361131" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362360" "00361132" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362361" "00361133" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362362" "00361134" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362363" "00361135" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362364" "00361136" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362365" "00361137" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362366" "00361138" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362367" "00361139" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362368" "00361140" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362369" "00361141" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362370" "00361142" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362371" "00361143" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362372" "00361144" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362373" "00361145" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362374" "00361146" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362375" "00361147" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362376" "00361148" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362377" "00361149" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362378" "00361150" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362379" "00361151" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362381" "00361153" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362382" "00361154" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000362383" "00361155" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362384" "00361156" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362385" "00361157" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362386" "00361158" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362387" "00361159" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362388" "00361160" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362389" "00361161" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362390" "00361162" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362391" "00361163" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG-I" "DNA" "blood" "genome-wide enrichment analysis, WES" "0000362392" "00361164" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362393" "00361165" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362394" "00361166" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362395" "00361167" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362396" "00361168" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362397" "00361169" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362398" "00361170" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362399" "00361171" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362400" "00361172" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362401" "00361173" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362402" "00361174" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362403" "00361175" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362404" "00361176" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362405" "00361177" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362406" "00361178" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362407" "00361179" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362408" "00361180" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362409" "00361181" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362410" "00361182" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362411" "00361183" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362412" "00361184" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362413" "00361185" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362414" "00361186" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;HD;SEQ" "DNA" "blood" "" "0000362415" "00361187" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362416" "00361188" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362417" "00361189" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362418" "00361190" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362419" "00361191" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362420" "00361192" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362421" "00361193" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362422" "00361194" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362423" "00361195" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ-NG-I" "DNA" "blood" "" "0000362424" "00361196" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362425" "00361197" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000362426" "00361198" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362427" "00361199" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362428" "00361200" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362429" "00361201" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362430" "00361202" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362431" "00361203" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362432" "00361204" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362433" "00361205" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362434" "00361206" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362435" "00361207" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362436" "00361208" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362437" "00361209" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362438" "00361210" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362439" "00361211" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DGGE;PCR;SEQ" "DNA" "blood" "" "0000362440" "00361212" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362441" "00361213" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362442" "00361214" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362443" "00361215" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362444" "00361216" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362445" "00361217" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362446" "00361218" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362447" "00361219" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362448" "00361220" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362449" "00361221" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362450" "00361222" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362451" "00361223" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362452" "00361224" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362453" "00361225" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362454" "00361226" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362455" "00361227" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362456" "00361228" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362457" "00361229" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362458" "00361230" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362459" "00361231" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362460" "00361232" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362461" "00361233" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362462" "00361234" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362463" "00361235" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "blood" "" "0000362464" "00361236" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362465" "00361237" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362466" "00361238" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362467" "00361239" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362468" "00361240" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362469" "00361241" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PE" "DNA" "blood" "APEX" "0000362470" "00361242" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362471" "00361243" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362472" "00361244" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362473" "00361245" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362474" "00361246" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362475" "00361247" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362476" "00361248" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362477" "00361249" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362478" "00361250" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362479" "00361251" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362480" "00361252" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362481" "00361253" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362482" "00361254" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362483" "00361255" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362484" "00361256" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362485" "00361257" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362486" "00361258" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362487" "00361259" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362488" "00361260" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362489" "00361261" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362490" "00361262" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362491" "00361263" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362492" "00361264" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362493" "00361265" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362494" "00361266" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362495" "00361267" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362496" "00361268" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362497" "00361269" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362498" "00361270" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362499" "00361271" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362500" "00361272" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362501" "00361273" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362502" "00361274" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362503" "00361275" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362504" "00361276" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362505" "00361277" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362506" "00361278" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362507" "00361279" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362508" "00361280" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362509" "00361281" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362510" "00361282" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362511" "00361283" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362512" "00361284" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362513" "00361285" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362514" "00361286" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362515" "00361287" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362516" "00361288" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362517" "00361289" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362518" "00361290" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362519" "00361291" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362520" "00361292" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362521" "00361293" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362522" "00361294" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362523" "00361295" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362524" "00361296" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362525" "00361297" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362526" "00361298" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362527" "00361299" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362528" "00361300" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362529" "00361301" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362530" "00361302" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362531" "00361303" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362532" "00361304" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362533" "00361305" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362534" "00361306" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362535" "00361307" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362536" "00361308" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362537" "00361309" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362538" "00361310" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362539" "00361311" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362540" "00361312" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362541" "00361313" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362542" "00361314" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362543" "00361315" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362544" "00361316" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362545" "00361317" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362546" "00361318" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362547" "00361319" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362548" "00361320" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362549" "00361321" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362550" "00361322" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362551" "00361323" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362552" "00361324" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362553" "00361325" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362554" "00361326" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362555" "00361327" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362556" "00361328" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362557" "00361329" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362558" "00361330" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362559" "00361331" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362560" "00361332" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362561" "00361333" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362562" "00361334" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362563" "00361335" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362564" "00361336" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362565" "00361337" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362566" "00361338" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;RFLP;SEQ" "DNA" "blood" "" "0000362567" "00361339" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362568" "00361340" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362569" "00361341" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362570" "00361342" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362571" "00361343" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362572" "00361344" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362573" "00361345" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362574" "00361346" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362575" "00361347" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362576" "00361348" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362577" "00361349" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362578" "00361350" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362579" "00361351" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362580" "00361352" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362581" "00361353" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362582" "00361354" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362583" "00361355" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362584" "00361356" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362585" "00361357" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362586" "00361358" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362587" "00361359" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362588" "00361360" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362589" "00361361" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362590" "00361362" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362591" "00361363" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362592" "00361364" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362593" "00361365" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362594" "00361366" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362595" "00361367" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362596" "00361368" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362597" "00361369" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362598" "00361370" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362599" "00361371" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362600" "00361372" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362601" "00361373" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362602" "00361374" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;SEQ" "DNA" "blood" "" "0000362603" "00361375" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362604" "00361376" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362605" "00361377" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362606" "00361378" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362607" "00361379" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362608" "00361380" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362609" "00361381" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362610" "00361382" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362611" "00361383" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362612" "00361384" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362613" "00361385" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362614" "00361386" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362615" "00361387" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362616" "00361388" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362617" "00361389" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362618" "00361390" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362619" "00361391" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362620" "00361392" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362621" "00361393" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362622" "00361394" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362623" "00361395" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362624" "00361396" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362625" "00361397" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362626" "00361398" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362627" "00361399" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362628" "00361400" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362629" "00361401" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362630" "00361402" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362631" "00361403" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362632" "00361404" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362633" "00361405" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362634" "00361406" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362635" "00361407" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362636" "00361408" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;DGGE;SEQ" "DNA" "blood" "" "0000362637" "00361409" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362638" "00361410" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362639" "00361411" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362640" "00361412" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362641" "00361413" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362642" "00361414" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362643" "00361415" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362644" "00361416" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362645" "00361417" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362646" "00361418" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362647" "00361419" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362648" "00361420" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362649" "00361421" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362650" "00361422" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362651" "00361423" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362652" "00361424" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362653" "00361425" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362654" "00361426" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000362655" "00361427" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362656" "00361428" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ" "DNA" "" "" "0000362657" "00361429" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362658" "00361430" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362659" "00361431" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362660" "00361432" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362661" "00361433" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362662" "00361434" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362663" "00361435" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362664" "00361436" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "MIPsm;PCR;SEQ" "DNA" "blood" "" "0000362665" "00361437" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362666" "00361438" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362667" "00361439" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362668" "00361440" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362669" "00361441" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362670" "00361442" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362671" "00361443" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000362672" "00361444" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "DHPLC;PCR;SEQ" "DNA" "blood" "" "0000362673" "00361445" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362674" "00361446" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" "GoldenGate assay" "0000362675" "00361447" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362676" "00361448" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362677" "00361449" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362678" "00361450" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362679" "00361451" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA;SEQ" "DNA" "blood" "" "0000362680" "00361452" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362681" "00361453" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "" "0000362682" "00361454" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "" "0000362683" "00361455" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SSCA" "DNA" "blood" "" "0000362684" "00361456" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000362685" "00361457" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ" "DNA" "blood" "" "0000364693" "00363465" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000364738" "00363510" "1" "00000" "00006" "2021-04-29 10:58:03" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364846" "00363618" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373871" "00372639" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374598" "00373363" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX" "0000374710" "00373475" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000374715" "00373480" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000375049" "00373817" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "arraySEQ" "DNA" "" "Asper" "0000375099" "00373867" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375134" "00373902" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375145" "00373913" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375146" "00373914" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375181" "00373949" "1" "00000" "00006" "2021-05-21 15:48:04" "" "" "SEQ-NG" "DNA" "" "" "0000376609" "00375412" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376621" "00375424" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376630" "00375433" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377365" "00376169" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377368" "00376172" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377369" "00376173" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377370" "00376174" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377374" "00376178" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377375" "00376179" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377377" "00376181" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377508" "00376312" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000377711" "00376506" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "PCR;SSCA" "DNA" "blood" "" "0000377712" "00376507" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "PCR;SSCA" "DNA" "blood" "" "0000377713" "00376508" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "PCR;SSCA" "DNA" "blood" "" "0000377714" "00376509" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "PCR;SSCA" "DNA" "blood" "" "0000377715" "00376510" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "PCR;SSCA" "DNA" "blood" "" "0000377981" "00376775" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378935" "00377731" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "Lymphoblast" "" "0000379075" "00377871" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "" "" "0000379076" "00377872" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "" "" "0000379077" "00377873" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "" "" "0000379257" "00378058" "1" "03508" "03508" "2021-08-04 04:51:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000380646" "00379446" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380689" "00379489" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380690" "00379490" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380691" "00379491" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380724" "00379524" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "?" "DNA" "blood" "" "0000380767" "00379568" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000380953" "00379752" "1" "03508" "03508" "2021-08-09 04:24:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000380989" "00379786" "1" "01807" "01807" "2021-08-09 13:51:01" "" "" "SEQ" "DNA" "" "" "0000380996" "00379793" "1" "03508" "03508" "2021-08-10 03:03:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000381067" "00379865" "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" "0000381469" "00380255" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "PCR" "DNA" "blood" "" "0000381525" "00380311" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381558" "00380344" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381559" "00380345" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381560" "00380346" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381561" "00380347" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381562" "00380348" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381563" "00380349" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381564" "00380350" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000382224" "00381010" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000382839" "00381623" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382913" "00381697" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382968" "00381752" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382969" "00381753" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382970" "00381754" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382971" "00381755" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382972" "00381756" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382973" "00381757" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383132" "00381916" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383575" "00382361" "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" "0000383576" "00382362" "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" "0000383577" "00382363" "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" "0000383578" "00382364" "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" "0000383580" "00382366" "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" "0000383581" "00382367" "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" "0000383582" "00382368" "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" "0000383583" "00382369" "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" "0000383584" "00382370" "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" "0000383585" "00382371" "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" "0000383586" "00382372" "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" "0000383588" "00382374" "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" "0000383589" "00382375" "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" "0000383797" "00382583" "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" "0000383798" "00382584" "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" "0000383799" "00382585" "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" "0000383800" "00382586" "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" "0000383801" "00382587" "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" "0000383802" "00382588" "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" "0000383803" "00382589" "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" "0000384048" "00382832" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000384051" "00382835" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000384052" "00382836" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SSCA;PCR;SEQ" "DNA" "" "" "0000384287" "00383063" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384289" "00383065" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384297" "00383073" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384310" "00383086" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384327" "00383103" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384743" "00383518" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper" "0000384983" "00383758" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385023" "00383798" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385032" "00383807" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000387419" "00386190" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387420" "00386191" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387421" "00386192" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387439" "00386210" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387440" "00386211" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387489" "00386260" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387790" "00386562" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387885" "00386657" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387942" "00386714" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387960" "00386732" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387973" "00386745" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387980" "00386752" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387984" "00386756" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387987" "00386759" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387995" "00386767" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388026" "00386798" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388059" "00386831" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388063" "00386835" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388075" "00386847" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388221" "00386995" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388609" "00387383" "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" "0000388745" "00387519" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" "" "0000389803" "00388561" "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" "0000389818" "00388576" "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" "0000389819" "00388577" "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" "0000389821" "00388579" "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" "0000390086" "00388843" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390135" "00388892" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390147" "00388904" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390152" "00388909" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390160" "00388917" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390171" "00388928" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390197" "00388954" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390218" "00388975" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390340" "00389097" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390341" "00389098" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390342" "00389099" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390422" "00389179" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390423" "00389180" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390498" "00389255" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390519" "00389276" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390582" "00389339" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390583" "00389340" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390584" "00389341" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390594" "00389351" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390595" "00389352" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390625" "00389382" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390626" "00389383" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390629" "00389386" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390631" "00389388" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390632" "00389389" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390643" "00389400" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390654" "00389411" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390655" "00389412" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390665" "00389422" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390720" "00389477" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390772" "00389529" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390773" "00389530" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390797" "00389554" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390807" "00389564" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390821" "00389578" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390824" "00389581" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390861" "00389618" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390873" "00389630" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390874" "00389631" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390876" "00389633" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390901" "00389658" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390930" "00389687" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390954" "00389711" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390955" "00389712" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390956" "00389713" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390961" "00389718" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390963" "00389720" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390981" "00389738" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000391023" "00389780" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000391027" "00389784" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391028" "00389785" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391050" "00389807" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000391063" "00389820" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000391065" "00389822" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391192" "00389949" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391209" "00389966" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391215" "00389972" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391279" "00390038" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000391595" "00390354" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391596" "00390355" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391597" "00390356" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391598" "00390357" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391974" "00390733" "1" "00000" "03840" "2021-11-11 19:27:39" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392085" "00390844" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392093" "00390852" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392094" "00390853" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392099" "00390858" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392107" "00390866" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392113" "00390872" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392115" "00390874" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392116" "00390875" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392138" "00390897" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392140" "00390899" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392179" "00390938" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392193" "00390952" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392203" "00390962" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392209" "00390968" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392213" "00390972" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392214" "00390973" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392218" "00390977" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392220" "00390979" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392229" "00390988" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392425" "00391183" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392426" "00391184" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392427" "00391185" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392428" "00391186" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392429" "00391187" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392430" "00391188" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392431" "00391189" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392432" "00391190" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392433" "00391191" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392435" "00391193" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392436" "00391194" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392437" "00391195" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392438" "00391196" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392439" "00391197" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392440" "00391198" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392441" "00391199" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392442" "00391200" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392443" "00391201" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392444" "00391202" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392445" "00391203" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392446" "00391204" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000393615" "00392373" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393863" "00392616" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393894" "00392647" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394025" "00392778" "1" "00000" "03840" "2021-11-24 16:18:10" "" "" "SEQ" "DNA" "blood" "Sanger sequencing of 4 genes" "0000394026" "00392779" "1" "00000" "03840" "2021-11-24 16:18:10" "" "" "SEQ" "DNA" "blood" "Sanger sequencing of 4 genes" "0000394592" "00393344" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394593" "00393345" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394594" "00393346" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394716" "00393468" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394895" "00393647" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394923" "00393675" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395747" "00394500" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395748" "00394501" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395749" "00394502" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395750" "00394503" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395751" "00394504" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396475" "00395229" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396476" "00395230" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396477" "00395231" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396678" "00395440" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396679" "00395441" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396680" "00395442" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396681" "00395443" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396682" "00395444" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396683" "00395445" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396684" "00395446" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396685" "00395447" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396686" "00395448" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396687" "00395449" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396688" "00395450" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396689" "00395451" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396690" "00395452" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396691" "00395453" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396692" "00395454" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396693" "00395455" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396694" "00395456" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396695" "00395457" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396696" "00395458" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396697" "00395459" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000396698" "00395460" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis" "0000397131" "00395892" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397132" "00395893" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397146" "00395907" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000401326" "00400083" "1" "00000" "03840" "2022-01-24 14:27:52" "" "" "SEQ-NG-I" "DNA" "blood" "Whole exome sequencing" "0000407594" "00406352" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" "" "0000407595" "00406353" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" "" "0000407596" "00406354" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" "" "0000407597" "00406355" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" "" "0000407598" "00406356" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" "" "0000407599" "00406357" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" "" "0000409653" "00408396" "1" "03468" "03468" "2022-04-20 22:50:45" "" "" "SEQ-NG" "DNA" "" "" "0000409658" "00408401" "1" "03468" "03468" "2022-04-21 06:08:18" "" "" "SEQ-NG" "DNA" "" "" "0000409696" "00408439" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000420522" "00419218" "1" "00000" "03840" "2022-10-19 11:08:16" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000420523" "00419219" "1" "00000" "03840" "2022-10-19 11:08:16" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000420524" "00419220" "1" "00000" "03840" "2022-10-19 11:08:16" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000421021" "00419716" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421022" "00419717" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421722" "00420413" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421793" "00420484" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421831" "00420522" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000428012" "00426692" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000428013" "00426693" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000428014" "00426694" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000428021" "00426701" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428022" "00426702" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428121" "00426801" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428122" "00426802" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000429409" "00427996" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "fibroblasts" "singleton WES" "0000430935" "00429522" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430954" "00429541" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430976" "00429563" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431001" "00429588" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431014" "00429601" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431066" "00429653" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431245" "00429832" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431294" "00429881" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431331" "00429918" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431341" "00429928" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431402" "00429989" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431459" "00430046" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431484" "00430071" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431487" "00430074" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431500" "00430087" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431517" "00430104" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431545" "00430132" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000436601" "00435128" "1" "04473" "04473" "2023-05-21 22:30:02" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436602" "00435129" "1" "04473" "04473" "2023-05-21 22:36:33" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436603" "00435130" "1" "04473" "04473" "2023-05-21 22:41:18" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436604" "00435131" "1" "04473" "04473" "2023-05-21 22:48:57" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436605" "00435132" "1" "04473" "04473" "2023-05-21 22:52:38" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436606" "00435133" "1" "04473" "04473" "2023-05-21 22:59:37" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436607" "00435134" "1" "04473" "04473" "2023-05-21 23:02:22" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436608" "00435135" "1" "04473" "04473" "2023-05-21 23:05:43" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436609" "00435138" "1" "04473" "04473" "2023-05-21 23:12:13" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436610" "00435139" "1" "04473" "04473" "2023-05-21 23:16:07" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436611" "00435140" "1" "04473" "04473" "2023-05-21 23:21:27" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436612" "00435141" "1" "04473" "04473" "2023-05-21 23:23:28" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436613" "00435142" "1" "04473" "04473" "2023-05-21 23:25:20" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436614" "00435143" "1" "04473" "04473" "2023-05-21 23:27:12" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436615" "00435144" "1" "04473" "04473" "2023-05-21 23:28:58" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436616" "00435145" "1" "04473" "04473" "2023-05-21 23:32:03" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436617" "00435146" "1" "04473" "04473" "2023-05-21 23:33:20" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436618" "00435147" "1" "04473" "04473" "2023-05-21 23:35:19" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000436619" "00435148" "1" "04473" "04473" "2023-05-21 23:36:56" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000437940" "00436456" "1" "04552" "04552" "2023-09-17 04:23:28" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000445881" "00444307" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000448517" "00446940" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448530" "00446953" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448612" "00447035" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448654" "00447077" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448658" "00447081" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448670" "00447093" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448672" "00447095" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448683" "00447106" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448735" "00447158" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448736" "00447159" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448738" "00447161" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448752" "00447175" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448753" "00447176" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448761" "00447184" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448775" "00447198" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448901" "00447324" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448927" "00447350" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448972" "00447395" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449069" "00447492" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449070" "00447493" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449124" "00447547" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449141" "00447564" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449161" "00447584" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449175" "00447598" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449192" "00447615" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449200" "00447623" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452531" "00450933" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452532" "00450934" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452533" "00450935" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452534" "00450936" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452535" "00450937" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452536" "00450938" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452537" "00450939" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452538" "00450940" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452539" "00450941" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452540" "00450942" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452541" "00450943" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452542" "00450944" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452543" "00450945" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452544" "00450946" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452545" "00450947" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452546" "00450948" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452547" "00450949" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452548" "00450950" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452549" "00450951" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452550" "00450952" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452551" "00450953" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452552" "00450954" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452553" "00450955" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452554" "00450956" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452555" "00450957" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452556" "00450958" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452557" "00450959" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452558" "00450960" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452559" "00450961" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452560" "00450962" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452561" "00450963" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452562" "00450964" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452563" "00450965" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452564" "00450966" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000462719" "00461087" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2028 "{{screeningid}}" "{{geneid}}" "0000033163" "PDE6B" "0000033163" "PRPH2" "0000033163" "RGR" "0000033163" "SNRNP200" "0000033184" "CACNA1F" "0000033184" "PRPH2" "0000033184" "SNRNP200" "0000033415" "PRPH2" "0000233787" "PRPH2" "0000233788" "PRPH2" "0000233789" "PRPH2" "0000233790" "PRPH2" "0000233791" 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"0000396694" "PRPH2" "0000396695" "PRPH2" "0000396696" "PRPH2" "0000396697" "PRPH2" "0000396698" "PRPH2" "0000397131" "PRPH2" "0000397132" "PRPH2" "0000397146" "PRPH2" "0000401326" "USH2A" "0000407594" "PRPH2" "0000407595" "PRPH2" "0000407596" "PRPH2" "0000407597" "PRPH2" "0000407598" "PRPH2" "0000407599" "PRPH2" "0000409653" "PRPH2" "0000409658" "PRPH2" "0000409696" "PRPH2" "0000420522" "PRPH2" "0000420523" "PRPH2" "0000420524" "PRPH2" "0000421722" "PRPH2" "0000421793" "PRPH2" "0000421831" "PRPH2" "0000428012" "ELOVL4" "0000428013" "PRPH2" "0000428014" "PRPH2" "0000428021" "ELOVL4" "0000428022" "ELOVL4" "0000428121" "PRPH2" "0000428122" "PRPH2" "0000430935" "PRPH2" "0000430954" "PRPH2" "0000430976" "PRPH2" "0000431001" "PRPH2" "0000431014" "PRPH2" "0000431066" "PRPH2" "0000431245" "PRPH2" "0000431294" "PRPH2" "0000431331" "PRPH2" "0000431341" "PRPH2" "0000431402" "PRPH2" "0000431459" "PRPH2" "0000431484" "PRPH2" "0000431487" "PRPH2" "0000431500" "PRPH2" "0000431517" "PRPH2" "0000431545" "PRPH2" "0000436601" "PRPH2" "0000436602" "PRPH2" "0000436603" "PRPH2" "0000436604" "PRPH2" "0000436605" "PRPH2" "0000436606" "PRPH2" "0000436607" "PRPH2" "0000436608" "PRPH2" "0000436609" "PRPH2" "0000436610" "PRPH2" "0000436611" "PRPH2" "0000436612" "PRPH2" "0000436613" "PRPH2" "0000436614" "PRPH2" "0000436615" "PRPH2" "0000436616" "PRPH2" "0000436617" "PRPH2" "0000436618" "PRPH2" "0000436619" "PRPH2" "0000437940" "PRPH2" ## 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 = 2482 "{{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}}" "0000019480" "0" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "00102" "PRPH2_000004" "g.42689519A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42721781A>G" "" "pathogenic" "" "0000060168" "1" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00229" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "variant known to affect function, not present in siblings, potentially contributing to phenotype" "Germline" "no" "" "0" "" "" "g.42721911G>A" "" "pathogenic" "" "0000060169" "1" "90" "6" "42689632" "42689632" "del" "4.06108E-6" "00229" "PRPH2_000002" "g.42689632del" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42721894del" "" "pathogenic" "" "0000060170" "11" "90" "6" "42666061" "42666061" "subst" "0.776534" "00039" "PRPH2_000003" "g.42666061T>C" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.42698323T>C" "" "pathogenic" "" "0000060171" "2" "90" "6" "42666061" "42666061" "subst" "0.776534" "00039" "PRPH2_000003" "g.42666061T>C" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.42698323T>C" "" "pathogenic" "" "0000247956" "0" "10" "6" "42689755" "42689755" "subst" "0.577432" "02325" "PRPH2_000015" "g.42689755A>G" "" "" "" "PRPH2(NM_000322.4):c.318T>C (p.V106=), PRPH2(NM_000322.5):c.318T>C (p.V106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42722017A>G" "" "benign" "" "0000250489" "0" "70" "6" "42672300" "42672300" "subst" "0" "02329" "PRPH2_000012" "g.42672300A>G" "" "" "" "PRPH2(NM_000322.5):c.631T>C (p.F211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704562A>G" "" "likely pathogenic" "" "0000253217" "0" "10" "6" "42689755" "42689755" "subst" "0.577432" "01943" "PRPH2_000015" "g.42689755A>G" "" "" "" "PRPH2(NM_000322.4):c.318T>C (p.V106=), PRPH2(NM_000322.5):c.318T>C (p.V106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42722017A>G" "" "benign" "" "0000255372" "0" "70" "6" "42672332" "42672332" "subst" "0" "01943" "PRPH2_000013" "g.42672332A>G" "" "" "" "PRPH2(NM_000322.4):c.599T>C (p.V200A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704594A>G" "" "likely pathogenic" "" "0000255450" "0" "90" "6" "42689632" "42689632" "del" "4.06108E-6" "01943" "PRPH2_000002" "g.42689632del" "" "" "" "PRPH2(NM_000322.4):c.441delT (p.G148Afs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721894del" "" "pathogenic" "" "0000294508" "0" "10" "6" "42689821" "42689821" "subst" "0.000142165" "02330" "PRPH2_000046" "g.42689821G>A" "" "" "" "PRPH2(NM_000322.5):c.252C>T (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42722083G>A" "" "benign" "" "0000294509" "0" "10" "6" "42689590" "42689590" "subst" "0.000743129" "02330" "PRPH2_000045" "g.42689590G>A" "" "" "" "PRPH2(NM_000322.5):c.483C>T (p.I161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721852G>A" "" "benign" "" "0000294510" "0" "10" "6" "42689566" "42689566" "subst" "4.06078E-5" "02330" "PRPH2_000014" "g.42689566G>A" "" "" "" "PRPH2(NM_000322.5):c.507C>T (p.N169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721828G>A" "" "benign" "" "0000294511" "0" "50" "6" "42672297" "42672297" "subst" "0" "02330" "PRPH2_000011" "g.42672297T>A" "" "" "" "PRPH2(NM_000322.5):c.634A>T (p.S212C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704559T>A" "" "VUS" "" "0000294512" "0" "30" "6" "42666208" "42666208" "subst" "0.000649741" "02330" "PRPH2_000009" "g.42666208G>A" "" "" "" "PRPH2(NM_000322.4):c.866C>T (p.S289L), PRPH2(NM_000322.5):c.866C>T (p.S289L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698470G>A" "" "likely benign" "" "0000294513" "0" "10" "6" "42666186" "42666186" "subst" "1.62433E-5" "02330" "PRPH2_000008" "g.42666186G>A" "" "" "" "PRPH2(NM_000322.5):c.888C>T (p.P296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698448G>A" "" "benign" "" "0000297385" "0" "10" "6" "42666020" "42666020" "subst" "0.271682" "02325" "PRPH2_000005" "g.42666020G>A" "" "" "" "PRPH2(NM_000322.4):c.*13C>T, PRPH2(NM_000322.5):c.*13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698282G>A" "" "benign" "" "0000297386" "0" "10" "6" "42666061" "42666061" "subst" "0.776534" "02325" "PRPH2_000003" "g.42666061T>C" "" "" "" "PRPH2(NM_000322.4):c.1013A>G (p.D338G), PRPH2(NM_000322.5):c.1013A>G (p.D338G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698323T>C" "" "benign" "" "0000297387" "0" "10" "6" "42666164" "42666164" "subst" "0.775274" "02325" "PRPH2_000007" "g.42666164G>C" "" "" "" "PRPH2(NM_000322.4):c.910C>G (p.Q304E), PRPH2(NM_000322.5):c.910C>G (p.Q304E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698426G>C" "" "benign" "" "0000297388" "0" "10" "6" "42666145" "42666145" "subst" "0.912259" "02325" "PRPH2_000006" "g.42666145C>T" "" "" "" "PRPH2(NM_000322.4):c.929G>A (p.R310K), PRPH2(NM_000322.5):c.929G>A (p.R310K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698407C>T" "" "benign" "" "0000306486" "0" "10" "6" "42666020" "42666020" "subst" "0.271682" "01943" "PRPH2_000005" "g.42666020G>A" "" "" "" "PRPH2(NM_000322.4):c.*13C>T, PRPH2(NM_000322.5):c.*13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698282G>A" "" "benign" "" "0000306487" "0" "10" "6" "42666061" "42666061" "subst" "0.776534" "01943" "PRPH2_000003" "g.42666061T>C" "" "" "" "PRPH2(NM_000322.4):c.1013A>G (p.D338G), PRPH2(NM_000322.5):c.1013A>G (p.D338G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698323T>C" "" "benign" "" "0000306488" "0" "30" "6" "42666060" "42666060" "subst" "8.14047E-6" "01943" "PRPH2_000043" "g.42666060G>T" "" "" "" "PRPH2(NM_000322.4):c.1014C>A (p.D338E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698322G>T" "" "likely benign" "" "0000306489" "0" "30" "6" "42689824" "42689824" "subst" "0.000523964" "01943" "PRPH2_000016" "g.42689824G>A" "" "" "" "PRPH2(NM_000322.4):c.249C>T (p.Y83=), PRPH2(NM_000322.5):c.249C>T (p.Y83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42722086G>A" "" "likely benign" "" "0000306490" "0" "50" "6" "42672206" "42672206" "subst" "0.000476835" "01943" "PRPH2_000010" "g.42672206T>C" "" "" "" "PRPH2(NM_000322.4):c.725A>G (p.E242G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704468T>C" "" "VUS" "" "0000306491" "0" "10" "6" "42666164" "42666164" "subst" "0.775274" "01943" "PRPH2_000007" "g.42666164G>C" "" "" "" "PRPH2(NM_000322.4):c.910C>G (p.Q304E), PRPH2(NM_000322.5):c.910C>G (p.Q304E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698426G>C" "" "benign" "" "0000306492" "0" "10" "6" "42666145" "42666145" "subst" "0.912259" "01943" "PRPH2_000006" "g.42666145C>T" "" "" "" "PRPH2(NM_000322.4):c.929G>A (p.R310K), PRPH2(NM_000322.5):c.929G>A (p.R310K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698407C>T" "" "benign" "" "0000306493" "0" "30" "6" "42666136" "42666136" "subst" "0.000369576" "01943" "PRPH2_000044" "g.42666136G>A" "" "" "" "PRPH2(NM_000322.4):c.938C>T (p.P313L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698398G>A" "" "likely benign" "" "0000338067" "0" "10" "6" "42665921" "42665921" "subst" "0" "02327" "PRPH2_000017" "g.42665921G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698183G>T" "" "benign" "" "0000338068" "0" "10" "6" "42666020" "42666020" "subst" "0.271682" "02327" "PRPH2_000005" "g.42666020G>A" "" "" "" "PRPH2(NM_000322.4):c.*13C>T, PRPH2(NM_000322.5):c.*13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698282G>A" "" "benign" "" "0000338069" "0" "90" "6" "42672102" "42672102" "subst" "0" "02327" "PRPH2_000019" "g.42672102C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704364C>T" "" "pathogenic" "" "0000338070" "0" "90" "6" "42672350" "42672350" "subst" "0" "02327" "PRPH2_000031" "g.42672350C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704612C>T" "" "pathogenic" "" "0000338071" "0" "90" "6" "42672351" "42672351" "subst" "0" "02327" "PRPH2_000032" "g.42672351T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704613T>A" "" "pathogenic" "" "0000340065" "0" "10" "6" "42689755" "42689755" "subst" "0.577432" "02327" "PRPH2_000015" "g.42689755A>G" "" "" "" "PRPH2(NM_000322.4):c.318T>C (p.V106=), PRPH2(NM_000322.5):c.318T>C (p.V106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42722017A>G" "" "benign" "" "0000341807" "0" "50" "6" "42689706" "42689706" "subst" "0.000186995" "02327" "PRPH2_000040" "g.42689706G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721968G>A" "" "VUS" "" "0000342073" "0" "70" "6" "42689558" "42689558" "subst" "4.06085E-6" "02327" "PRPH2_000034" "g.42689558C>T" "" "" "" "PRPH2(NM_000322.5):c.515G>A (p.R172Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721820C>T" "" "likely pathogenic" "" "0000342074" "0" "90" "6" "42689559" "42689559" "subst" "0" "02327" "PRPH2_000035" "g.42689559G>A" "" "" "" "PRPH2(NM_000322.5):c.514C>T (p.R172W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic" "" "0000342176" "0" "70" "6" "42672347" "42672347" "subst" "0" "02327" "PRPH2_000030" "g.42672347C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704609C>T" "" "likely pathogenic" "" "0000342291" "0" "90" "6" "42672273" "42672273" "del" "0" "02327" "PRPH2_000022" "g.42672273del" "" "" "" "PRPH2(NM_000322.4):c.658delC (p.R220Gfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704535del" "" "pathogenic" "" "0000342293" "0" "50" "6" "42672272" "42672272" "subst" "8.12189E-6" "02327" "PRPH2_000021" "g.42672272C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704534C>T" "" "VUS" "" "0000342295" "0" "50" "6" "42672273" "42672273" "subst" "0" "02327" "PRPH2_000023" "g.42672273G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704535G>A" "" "VUS" "" "0000342605" "0" "10" "6" "42666145" "42666145" "subst" "0.912259" "02327" "PRPH2_000006" "g.42666145C>T" "" "" "" "PRPH2(NM_000322.4):c.929G>A (p.R310K), PRPH2(NM_000322.5):c.929G>A (p.R310K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698407C>T" "" "benign" "" "0000343619" "0" "70" "6" "42689570" "42689572" "del" "0" "02327" "PRPH2_000036" "g.42689570_42689572del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic" "" "0000344751" "0" "10" "6" "42666164" "42666164" "subst" "0.775274" "02327" "PRPH2_000007" "g.42666164G>C" "" "" "" "PRPH2(NM_000322.4):c.910C>G (p.Q304E), PRPH2(NM_000322.5):c.910C>G (p.Q304E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698426G>C" "" "benign" "" "0000345782" "0" "90" "6" "42689574" "42689574" "subst" "0" "02327" "PRPH2_000037" "g.42689574C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721836C>T" "" "pathogenic" "" "0000345855" "0" "90" "6" "42672308" "42672308" "subst" "4.87424E-5" "02327" "PRPH2_000028" "g.42672308C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704570C>T" "" "pathogenic" "" "0000346980" "0" "50" "6" "42672317" "42672317" "subst" "0" "02327" "PRPH2_000029" "g.42672317A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704579A>G" "" "VUS" "" "0000347426" "0" "70" "6" "42689615" "42689615" "subst" "0" "02327" "PRPH2_000038" "g.42689615T>C" "" "" "" "PRPH2(NM_000322.5):c.458A>G (p.K153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721877T>C" "" "likely pathogenic" "" "0000347983" "0" "90" "6" "42672298" "42672298" "subst" "0" "02327" "PRPH2_000026" "g.42672298G>T" "" "" "" "PRPH2(NM_000322.4):c.633C>A (p.F211L), PRPH2(NM_000322.5):c.633C>A (p.F211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704560G>T" "" "pathogenic" "" "0000348285" "0" "90" "6" "42672285" "42672285" "subst" "0" "02327" "PRPH2_000025" "g.42672285G>A" "" "" "" "PRPH2(NM_000322.5):c.646C>T (p.P216S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42704547G>A" "" "pathogenic" "" "0000349717" "0" "70" "6" "42689553" "42689553" "subst" "4.06075E-6" "02327" "PRPH2_000033" "g.42689553A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42721815A>T" "" "likely pathogenic" "" "0000349731" "0" "90" "6" "42690010" "42690010" "subst" "0" "02327" "PRPH2_000041" "g.42690010C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42722272C>T" "" "pathogenic" "" "0000349771" "0" "50" "6" "42666128" "42666128" "subst" "8.9351E-5" "02327" "PRPH2_000018" "g.42666128A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42698390A>C" "" "VUS" "" "0000351188" "0" "10" "6" "42690083" "42690083" "subst" "0.00783621" "02327" "PRPH2_000042" "g.42690083T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42722345T>G" "" "benign" "" "0000472270" "0" "50" "6" "42672267" "42672267" "subst" "0" "01807" "PRPH2_000048" "g.42672267A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42704529A>G" "" "VUS" "" "0000472271" "0" "90" "6" "42672173" "42672173" "del" "0" "01807" "PRPH2_000047" "g.42672173del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42704435del" "" "pathogenic" "" "0000476495" "0" "50" "6" "42666059" "42666059" "subst" "6.5196E-5" "02591" "PRPH2_000049" "g.42666059C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs760687443" "0" "" "" "g.42698321C>T" "" "VUS" "" "0000476496" "0" "10" "6" "42666061" "42666061" "subst" "0.776534" "02591" "PRPH2_000003" "g.42666061T>C" "319/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs434102" "0" "" "" "g.42698323T>C" "" "benign" "" "0000476497" "0" "50" "6" "42666119" "42666119" "subst" "2.0308E-5" "02591" "PRPH2_000050" "g.42666119A>G" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs139329966" "0" "" "" "g.42698381A>G" "" "VUS" "" "0000476498" "0" "10" "6" "42666145" "42666145" "subst" "0.912259" "02591" "PRPH2_000006" "g.42666145C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs425876" "0" "" "" "g.42698407C>T" "" "benign" "" "0000476499" "0" "10" "6" "42666164" "42666164" "subst" "0.775274" "02591" "PRPH2_000007" "g.42666164G>C" "321/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs390659" "0" "" "" "g.42698426G>C" "" "benign" "" "0000476500" "0" "90" "6" "42672121" "42672123" "del" "0" "02591" "PRPH2_000051" "g.42672121_42672123del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.42704383_42704385del" "" "pathogenic" "" "0000476501" "0" "50" "6" "42672125" "42672125" "subst" "4.23635E-6" "02591" "PRPH2_000052" "g.42672125G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs781212034" "0" "" "" "g.42704387G>C" "" "VUS" "" "0000476502" "0" "50" "6" "42672183" "42672183" "subst" "0" "02591" "PRPH2_000053" "g.42672183A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.42704445A>C" "" "VUS" "" "0000476503" "0" "90" "6" "42672199" "42672199" "subst" "0" "02591" "PRPH2_000054" "g.42672199G>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61755816" "0" "" "" "g.42704461G>T" "" "pathogenic" "" "0000476504" "0" "90" "6" "42672223" "42672223" "subst" "0" "02591" "PRPH2_000055" "g.42672223G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.42704485G>C" "" "pathogenic" "" "0000476505" "0" "50" "6" "42672241" "42672241" "subst" "0" "02591" "PRPH2_000056" "g.42672241G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.42704503G>C" "" "VUS" "" "0000476506" "0" "90" "6" "42672273" "42672273" "subst" "0" "02591" "PRPH2_000023" "g.42672273G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61755809" "0" "" "" "g.42704535G>A" "" "pathogenic" "" "0000476507" "0" "90" "6" "42672297" "42672297" "subst" "0" "02591" "PRPH2_000057" "g.42672297T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61755800" "0" "" "" "g.42704559T>C" "" "pathogenic" "" "0000476508" "0" "50" "6" "42672298" "42672298" "subst" "0" "02591" "PRPH2_000058" "g.42672298G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.42704560G>C" "" "VUS" "" "0000476509" "0" "90" "6" "42672299" "42672300" "ins" "0" "02591" "PRPH2_000059" "g.42672299_42672300insT" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.42704561_42704562insT" "" "pathogenic" "" "0000476510" "0" "90" "6" "42672302" "42672302" "subst" "0" "02591" "PRPH2_000060" "g.42672302G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61755798" "0" "" "" "g.42704564G>A" "" "pathogenic" "" "0000476511" "0" "50" "6" "42672308" "42672310" "dup" "0" "02591" "PRPH2_000061" "g.42672308_42672310dup" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.42704570_42704572dup" "" "VUS" "" "0000476512" "0" "90" "6" "42672342" "42672342" "subst" "0" "02591" "PRPH2_000062" "g.42672342T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62645931" "0" "" "" "g.42704604T>C" "" "pathogenic" "" "0000476513" "0" "50" "6" "42689516" "42689516" "subst" "0" "02591" "PRPH2_000063" "g.42689516T>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.42721778T>A" "" "VUS" "" "0000476514" "0" "90" "6" "42689559" "42689559" "subst" "0" "02591" "PRPH2_000035" "g.42689559G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic" "" "0000476515" "0" "90" "6" "42689565" "42689565" "subst" "1.62429E-5" "02591" "PRPH2_000064" "g.42689565C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61755791" "0" "" "" "g.42721827C>T" "" "pathogenic" "" "0000476516" "0" "90" "6" "42689574" "42689574" "subst" "0" "02591" "PRPH2_000037" "g.42689574C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "pathogenic" "" "0000476517" "0" "50" "6" "42689619" "42689619" "subst" "4.06088E-5" "02591" "PRPH2_000065" "g.42689619T>C" "11/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146703538" "0" "" "" "g.42721881T>C" "" "VUS" "" "0000476518" "0" "50" "6" "42689727" "42689727" "subst" "4.06564E-6" "02591" "PRPH2_000066" "g.42689727C>A" "13/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140227298" "0" "" "" "g.42721989C>A" "" "VUS" "" "0000476519" "0" "50" "6" "42689937" "42689937" "subst" "1.62499E-5" "02591" "PRPH2_000067" "g.42689937G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61755771" "0" "" "" "g.42722199G>A" "" "VUS" "" "0000476520" "0" "50" "6" "42689979" "42689979" "subst" "0.000893684" "02591" "PRPH2_000068" "g.42689979T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61755767" "0" "" "" "g.42722241T>C" "" "VUS" "" "0000476521" "0" "50" "6" "42690029" "42690029" "subst" "6.09558E-5" "02591" "PRPH2_000069" "g.42690029T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs555112175" "0" "" "" "g.42722291T>C" "" "VUS" "" "0000476522" "0" "50" "6" "42690036" "42690036" "subst" "0.000435044" "02591" "PRPH2_000070" "g.42690036G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61754402" "0" "" "" "g.42722298G>A" "" "VUS" "" "0000477495" "3" "10" "6" "42666061" "42666061" "subst" "0.776534" "02591" "PRPH2_000003" "g.42666061T>C" "848/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs434102" "0" "" "" "g.42698323T>C" "" "benign" "" "0000477496" "3" "10" "6" "42666145" "42666145" "subst" "0.912259" "02591" "PRPH2_000006" "g.42666145C>T" "1201/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs425876" "0" "" "" "g.42698407C>T" "" "benign" "" "0000477497" "3" "10" "6" "42666164" "42666164" "subst" "0.775274" "02591" "PRPH2_000007" "g.42666164G>C" "845/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs390659" "0" "" "" "g.42698426G>C" "" "benign" "" "0000528858" "0" "90" "6" "42666176" "42666177" "del" "0" "02327" "PRPH2_000071" "g.42666176_42666177del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42698438_42698439del" "" "pathogenic" "" "0000528859" "0" "30" "6" "42666208" "42666208" "subst" "0.000649741" "01943" "PRPH2_000009" "g.42666208G>A" "" "" "" "PRPH2(NM_000322.4):c.866C>T (p.S289L), PRPH2(NM_000322.5):c.866C>T (p.S289L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42698470G>A" "" "likely benign" "" "0000528860" "0" "30" "6" "42672150" "42672150" "subst" "0.000113754" "01943" "PRPH2_000072" "g.42672150G>A" "" "" "" "PRPH2(NM_000322.4):c.781C>T (p.L261F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42704412G>A" "" "likely benign" "" "0000528861" "0" "30" "6" "42672157" "42672157" "subst" "0" "01943" "PRPH2_000073" "g.42672157G>A" "" "" "" "PRPH2(NM_000322.4):c.774C>T (p.Y258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42704419G>A" "" "likely benign" "" "0000528862" "0" "90" "6" "42672186" "42672186" "del" "0" "02327" "PRPH2_000074" "g.42672186del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42704448del" "" "pathogenic" "" "0000528863" "0" "90" "6" "42672285" "42672285" "subst" "0" "02330" "PRPH2_000025" "g.42672285G>A" "" "" "" "PRPH2(NM_000322.5):c.646C>T (p.P216S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42704547G>A" "" "pathogenic" "" "0000528864" "0" "70" "6" "42672298" "42672298" "subst" "0" "02330" "PRPH2_000026" "g.42672298G>T" "" "" "" "PRPH2(NM_000322.4):c.633C>A (p.F211L), PRPH2(NM_000322.5):c.633C>A (p.F211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42704560G>T" "" "likely pathogenic" "" "0000528865" "0" "10" "6" "42689590" "42689590" "subst" "0.000381717" "02330" "PRPH2_000075" "g.42689590G>C" "" "" "" "PRPH2(NM_000322.5):c.483C>G (p.I161M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42721852G>C" "" "benign" "" "0000528866" "0" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "02330" "PRPH2_000001" "g.42689649G>A" "" "" "" "PRPH2(NM_000322.4):c.424C>T (p.R142W), PRPH2(NM_000322.5):c.424C>T (p.R142W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42721911G>A" "" "pathogenic" "" "0000528867" "0" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "01943" "PRPH2_000001" "g.42689649G>A" "" "" "" "PRPH2(NM_000322.4):c.424C>T (p.R142W), PRPH2(NM_000322.5):c.424C>T (p.R142W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42721911G>A" "" "pathogenic" "" "0000528868" "0" "10" "6" "42689824" "42689824" "subst" "0.000523964" "02330" "PRPH2_000016" "g.42689824G>A" "" "" "" "PRPH2(NM_000322.4):c.249C>T (p.Y83=), PRPH2(NM_000322.5):c.249C>T (p.Y83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42722086G>A" "" "benign" "" "0000528869" "0" "50" "6" "42689979" "42689979" "subst" "0.000893684" "01943" "PRPH2_000068" "g.42689979T>C" "" "" "" "PRPH2(NM_000322.4):c.94A>G (p.I32V), PRPH2(NM_000322.5):c.94A>G (p.I32V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42722241T>C" "" "VUS" "" "0000594735" "0" "90" "6" "42689559" "42689559" "subst" "0" "01807" "PRPH2_000035" "g.42689559G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic" "" "0000610348" "0" "50" "6" "42689554" "42689554" "subst" "0" "02330" "PRPH2_000076" "g.42689554G>C" "" "" "" "PRPH2(NM_000322.5):c.519C>G (p.D173E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42721816G>C" "" "VUS" "" "0000610349" "0" "70" "6" "42689696" "42689696" "subst" "0" "02327" "PRPH2_000077" "g.42689696A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42721958A>G" "" "likely pathogenic" "" "0000610350" "0" "90" "6" "42689770" "42689770" "subst" "0" "02327" "PRPH2_000078" "g.42689770G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42722032G>C" "" "pathogenic" "" "0000610351" "0" "90" "6" "42689937" "42689937" "subst" "1.62499E-5" "02330" "PRPH2_000067" "g.42689937G>A" "" "" "" "PRPH2(NM_000322.5):c.136C>T (p.R46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42722199G>A" "" "pathogenic" "" "0000610352" "0" "30" "6" "42689940" "42689940" "subst" "0.00100343" "02330" "PRPH2_000079" "g.42689940G>A" "" "" "" "PRPH2(NM_000322.5):c.133C>T (p.L45F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42722202G>A" "" "likely benign" "" "0000626338" "10" "70" "6" "42672263" "42672263" "subst" "0" "03536" "PRPH2_000080" "g.42672263A>T" "" "{PMID:Strafella 2019:31614793}, {DOI:Strafella 2019:10.3390/genes10100792}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42704525A>T" "" "likely pathogenic (dominant)" "" "0000655590" "0" "90" "6" "42689559" "42689559" "subst" "0" "02330" "PRPH2_000035" "g.42689559G>A" "" "" "" "PRPH2(NM_000322.5):c.514C>T (p.R172W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42721821G>A" "" "pathogenic" "" "0000655591" "0" "70" "6" "42689615" "42689615" "subst" "0" "02330" "PRPH2_000038" "g.42689615T>C" "" "" "" "PRPH2(NM_000322.5):c.458A>G (p.K153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42721877T>C" "" "likely pathogenic" "" "0000664775" "1" "90" "6" "42689615" "42689615" "subst" "0" "01848" "PRPH2_000038" "g.42689615T>C" "" "{PMID:Karali 2019:31877679}, {DOI:Karali 2019:10.3390/ijms21010086}" "" "" "" "Germline" "" "" "0" "" "" "g.42721877T>C" "" "pathogenic (dominant)" "" "0000666146" "0" "70" "6" "42666126" "42666126" "subst" "0" "01807" "PRPH2_000081" "g.42666126C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42698388C>T" "" "likely pathogenic" "" "0000666147" "0" "70" "6" "42689558" "42689558" "subst" "0" "01807" "PRPH2_000082" "g.42689558C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42721820C>G" "" "likely pathogenic" "" "0000677779" "0" "90" "6" "42672223" "42672223" "subst" "0" "02330" "PRPH2_000083" "g.42672223G>T" "" "" "" "PRPH2(NM_000322.5):c.708C>A (p.Y236*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42704485G>T" "" "pathogenic" "" "0000683269" "0" "90" "6" "42689615" "42689617" "del" "0" "01164" "PRPH2_000084" "g.42689615_42689617del" "" "Weleber et al. 1993. Arch Ophthalmol . 11: 1531; Consugar et al. 2015. Genet Med 17: 253; Chakraborty et al. 2016. Hum Mol Genet 25: 300" "" "" "ACMG grading: PS3,PS4,PM2,PM4,PP1" "Germline" "" "rs672601327" "0" "" "" "g.42721877_42721879del" "" "pathogenic" "ACMG" "0000684396" "1" "70" "6" "42689559" "42689559" "subst" "0" "00004" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "likely pathogenic (dominant)" "" "0000684397" "1" "70" "6" "42689491" "42690353" "del" "0" "00004" "PRPH2_000152" "g.(42672350_42689491)_(42690353_?)del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.1-c581+?del" "" "Germline" "" "" "0" "" "" "g.(42704612_42721753)_(42722615_?)del" "" "likely pathogenic (dominant)" "" "0000684554" "1" "70" "6" "42689699" "42689699" "subst" "4.06564E-6" "00004" "PRPH2_000094" "g.42689699G>A" "3/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.42721961G>A" "" "likely pathogenic" "" "0000684555" "1" "70" "6" "42672308" "42672308" "subst" "4.87424E-5" "00004" "PRPH2_000028" "g.42672308C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.42704570C>T" "" "likely pathogenic" "" "0000684556" "1" "70" "6" "42666061" "42666064" "dup" "0" "00004" "PRPH2_000085" "g.42666061_42666064dup" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.42698323_42698326dup" "" "likely pathogenic" "" "0000684639" "3" "70" "6" "42690032" "42690033" "ins" "0" "00004" "PRPH2_000095" "g.42690032_42690033insAC" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.40_41insGT" "" "Germline" "" "" "0" "" "" "g.42722294_42722295insAC" "" "likely pathogenic (recessive)" "" "0000684690" "1" "70" "6" "42672272" "42672277" "del" "0" "00004" "PRPH2_000020" "g.42672272_42672277del" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "c.657_662delACGGCC" "" "Germline" "" "" "0" "" "" "g.42704534_42704539del" "" "likely pathogenic (dominant)" "ACMG" "0000685371" "0" "70" "6" "42666147" "42666147" "subst" "8.12209E-6" "00004" "PRPH2_000086" "g.42666147C>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.42698409C>A" "" "likely pathogenic" "ACMG" "0000685372" "0" "90" "6" "42672121" "42672123" "del" "0" "00004" "PRPH2_000051" "g.42672121_42672123del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.42704383_42704385del" "" "pathogenic" "ACMG" "0000685373" "0" "70" "6" "42672137" "42672137" "subst" "0" "00004" "PRPH2_000087" "g.42672137A>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.42704399A>C" "" "likely pathogenic" "ACMG" "0000685374" "0" "70" "6" "42672199" "42672199" "subst" "0" "00004" "PRPH2_000088" "g.42672199G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.42704461G>C" "" "likely pathogenic" "ACMG" "0000685375" "0" "70" "6" "42672267" "42672267" "subst" "0" "00004" "PRPH2_000048" "g.42672267A>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.42704529A>G" "" "likely pathogenic" "ACMG" "0000685376" "0" "70" "6" "42672272" "42672272" "subst" "8.12189E-6" "00004" "PRPH2_000021" "g.42672272C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.42704534C>T" "" "likely pathogenic" "ACMG" "0000685377" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00004" "PRPH2_000089" "g.42672284G>A" "1/2420 IRD families" "{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "ACMG" "0000685378" "0" "70" "6" "42672296" "42672296" "subst" "0" "00004" "PRPH2_000090" "g.42672296C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.42704558C>G" "" "likely pathogenic" "ACMG" "0000685379" "0" "90" "6" "42672319" "42672319" "subst" "0" "00004" "PRPH2_000091" "g.42672319G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685380" "0" "70" "6" "42672337" "42672337" "subst" "0" "00004" "PRPH2_000092" "g.42672337G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685381" "0" "70" "6" "42689555" "42689555" "subst" "0" "00004" "PRPH2_000093" "g.42689555T>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685382" "0" "70" "6" "42689559" "42689559" "subst" "0" "00004" "PRPH2_000035" "g.42689559G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685383" "0" "90" "6" "42689632" "42689632" "del" "4.06108E-6" "00004" "PRPH2_000002" "g.42689632del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.441delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685384" "0" "90" "6" "42689632" "42689632" "del" "4.06108E-6" "00004" "PRPH2_000002" "g.42689632del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.441delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685385" "0" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00004" "PRPH2_000001" "g.42689649G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000708290" "0" "70" "6" "42666140" "42666140" "del" "0" "01164" "PRPH2_000096" "g.42666140del" "" "" "" "" "ACMG: PVS1_strong, PM2: class 4" "Germline" "?" "" "" "" "" "g.42698402del" "" "likely pathogenic (dominant)" "ACMG" "0000708431" "1" "70" "6" "42672310" "42672326" "del" "0" "00008" "PRPH2_000097" "g.42672310_42672326del" "" "{PMID:Renner 2004:15579992}" "" "609_625del17 (Arg203fs) in RDS/peripherin" "" "Germline" "" "" "0" "" "" "g.42704572_42704588del" "" "likely pathogenic" "" "0000711766" "1" "90" "6" "42689937" "42689937" "subst" "1.62499E-5" "00008" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711767" "1" "90" "6" "42689696" "42689696" "subst" "0" "00008" "PRPH2_000106" "g.42689696A>C" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711768" "1" "90" "6" "42689557" "42689557" "subst" "0" "00008" "PRPH2_000104" "g.42689557C>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:516G>T, AAG?AAT Arg172Gln" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711769" "1" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "00008" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711770" "1" "90" "6" "42672304" "42672315" "del" "0" "00008" "PRPH2_000102" "g.42672304_42672315del" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:616-627del Val206-209del" "" "Germline" "" "" "0" "" "" "g.42704566_42704577del" "" "pathogenic (dominant)" "" "0000711771" "1" "90" "6" "42672302" "42672302" "subst" "0" "00008" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:629C>G, CCT?CGT Pro210Arg" "" "Germline" "" "" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000711772" "1" "90" "6" "42672302" "42672302" "subst" "0" "00008" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:629C>G, CCT?CGT Pro210Arg" "" "Germline" "" "" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000711773" "1" "90" "6" "42672302" "42672302" "subst" "0" "00008" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:629C>G, CCT?CGT Pro210Arg" "" "Germline" "" "" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000711774" "1" "90" "6" "42672302" "42672302" "subst" "0" "00008" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:629C>G, CCT?CGT Pro210Arg" "" "Germline" "" "" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000711775" "1" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00008" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:647C>T, CCT?CTT Pro216Leu" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000711776" "1" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00008" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:647C>T, CCT?CTT Pro216Leu" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000711777" "1" "90" "6" "42672285" "42672285" "subst" "0" "00008" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:646C>T, CCG?TCT Pro216Ser" "" "Germline" "" "" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000711778" "1" "90" "6" "42672134" "42672134" "subst" "0" "00008" "PRPH2_000100" "g.42672134C>T" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:797G>A, GGT?GAT Gly266Asp" "" "Germline" "" "" "0" "" "" "g.42704396C>T" "" "pathogenic (dominant)" "" "0000711779" "1" "90" "6" "42672134" "42672134" "subst" "0" "00008" "PRPH2_000100" "g.42672134C>T" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:797G>A, GGT?GAT Gly266Asp" "" "Germline" "" "" "0" "" "" "g.42704396C>T" "" "pathogenic (dominant)" "" "0000711780" "1" "90" "6" "42672100" "42672100" "subst" "4.28798E-6" "00008" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1068+3A?T IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711781" "1" "90" "6" "42666003" "42666003" "subst" "0" "00008" "PRPH2_000098" "g.42666003T>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1068+3A>T IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711782" "1" "90" "6" "42672100" "42672100" "subst" "4.28798E-6" "00008" "PRPH2_000098" "g.42672100T>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1068+3A>T IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711783" "1" "90" "6" "42689651" "42689651" "subst" "0" "00008" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000711784" "1" "90" "6" "42689540" "42689540" "subst" "0" "00008" "PRPH2_000103" "g.42689540T>C" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711785" "1" "90" "6" "42672302" "42672302" "subst" "0" "00008" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:629C>G, CCT?CGT Pro210Arg" "" "Germline" "" "" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000711786" "1" "90" "6" "42689559" "42689559" "subst" "0" "00008" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711787" "1" "90" "6" "42690036" "42690036" "subst" "0.000435044" "00008" "PRPH2_000070" "g.42690036G>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000711788" "1" "90" "6" "42689940" "42689940" "subst" "0.00100343" "00008" "PRPH2_000079" "g.42689940G>A" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000711789" "1" "90" "6" "42666003" "42666003" "subst" "0" "00008" "PRPH2_000098" "g.42666003T>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1068+3A?T RDS IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711790" "1" "90" "6" "42666003" "42666003" "subst" "0" "00008" "PRPH2_000098" "g.42666003T>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1068+3A?T RDS IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711791" "1" "90" "6" "42672100" "42672100" "subst" "4.28798E-6" "00008" "PRPH2_000098" "g.42672100T>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1068+3A?T RDS IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711792" "1" "90" "6" "42666003" "42666003" "subst" "0" "00008" "PRPH2_000098" "g.42666003T>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1068+3A?T RDS IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711793" "1" "90" "6" "42666003" "42666003" "subst" "0" "00008" "PRPH2_000098" "g.42666003T>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1068+3A>T RDS IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711809" "1" "30" "6" "42689755" "42689755" "subst" "0.577432" "00008" "PRPH2_000015" "g.42689755A>G" "0.02" "{PMID:Sohocki 2001:11139241}" "" "318C>T (GTC?GTT) Val106Val" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711810" "1" "30" "6" "42666164" "42666164" "subst" "0.775274" "00008" "PRPH2_000007" "g.42666164G>C" "0.23" "{PMID:Sohocki 2001:11139241}" "" "910G>C (GAG?GCT) Glu304Gln" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711811" "1" "30" "6" "42666145" "42666145" "subst" "0.912259" "00008" "PRPH2_000006" "g.42666145C>T" "0.10" "{PMID:Sohocki 2001:11139241}" "" "929A>G (AAG?AGG) Lys310Arg" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711812" "1" "30" "6" "42666066" "42666066" "subst" "7.32368E-5" "00008" "PRPH2_000099" "g.42666066G>A" "" "{PMID:Sohocki 2001:11139241}" "" "NM_000322:1008C>T (GGC?GGT) Gly336Gly" "" "CLASSIFICATION record" "" "" "0" "" "" "g.42698328G>A" "" "likely benign" "" "0000711813" "1" "30" "6" "42666061" "42666061" "subst" "0.776534" "00008" "PRPH2_000003" "g.42666061T>C" "0.22" "{PMID:Sohocki 2001:11139241}" "" "1014G>A (GGC?GAC) Gly338Asp" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000713297" "0" "90" "6" "42672306" "42672306" "subst" "0" "00000" "PRPH2_000108" "g.42672306C>A" "" "{PMID:Carss 2017:28041643}" "" "6:42672306C>A ENST00000230381.5:c.625G>T (Val209Phe)" "" "Germline" "" "" "0" "" "" "g.42704568C>A" "" "pathogenic (dominant)" "" "0000713483" "0" "90" "6" "42666207" "42666214" "del" "0" "00000" "PRPH2_000107" "g.42666207_42666214del" "" "{PMID:Carss 2017:28041643}" "" "6:42666206GCGACGTCT>G ENST00000230381.5:c.860_867delAGACGTCG (Gln287ProfsTer11)" "" "Germline" "" "" "0" "" "" "g.42698469_42698476del" "" "pathogenic (dominant)" "" "0000713500" "0" "90" "6" "42672267" "42672267" "subst" "0" "00000" "PRPH2_000048" "g.42672267A>G" "" "{PMID:Carss 2017:28041643}" "" "6:42672267A>G ENST00000230381.5:c.664T>C (Cys222Arg)" "" "Germline" "" "" "0" "" "" "g.42704529A>G" "" "pathogenic (dominant)" "" "0000713516" "0" "90" "6" "42672297" "42672297" "subst" "0" "00000" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Carss 2017:28041643}" "" "6:42672297T>C ENST00000230381.5:c.634A>G (Ser212Gly)" "" "Germline" "" "" "0" "" "" "g.42704559T>C" "" "pathogenic (dominant)" "" "0000713547" "0" "90" "6" "42689807" "42689814" "del" "0" "00000" "PRPH2_000111" "g.42689807_42689814del" "" "{PMID:Carss 2017:28041643}" "" "6:42689806GGCTGGGTC>G ENST00000230381.5:c.259_266delGACCCAGC (Asp87GlnfsTer87)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713658" "0" "90" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Carss 2017:28041643}" "" "6:42672308C>T ENST00000230381.5:c.623G>A (Gly208Asp)" "" "Germline" "" "" "0" "" "" "g.42704570C>T" "" "pathogenic (dominant)" "" "0000713946" "1" "90" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "rs61755809" "0" "" "" "g.42704535G>A" "" "pathogenic (dominant)" "" "0000713947" "1" "90" "6" "42672332" "42672332" "subst" "0" "00000" "PRPH2_000110" "g.42672332A>C" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.42704594A>C" "" "pathogenic (dominant)" "" "0000713948" "1" "90" "6" "42689925" "42689925" "subst" "0" "00000" "PRPH2_000112" "g.42689925C>G" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.42722187C>G" "" "pathogenic (dominant)" "" "0000713995" "1" "50" "6" "42672306" "42672306" "subst" "2.84336E-5" "00000" "PRPH2_000109" "g.42672306C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.42704568C>T" "" "VUS" "" "0000720936" "0" "70" "6" "42672303" "42672303" "subst" "0" "02330" "PRPH2_000120" "g.42672303G>A" "" "" "" "PRPH2(NM_000322.5):c.628C>T (p.P210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42704565G>A" "" "likely pathogenic" "" "0000720937" "0" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "02330" "PRPH2_000034" "g.42689558C>T" "" "" "" "PRPH2(NM_000322.5):c.515G>A (p.R172Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729790" "0" "90" "6" "42672339" "42672339" "subst" "0" "00000" "PRPH2_000122" "g.42672339T>G" "" "{PMID:Wawrocka 2018:29769798}" "" "1612delT" "" "Germline" "" "" "0" "" "" "g.42704601T>G" "" "pathogenic (recessive)" "" "0000730628" "1" "90" "6" "42666154" "42666154" "del" "0" "00000" "PRPH2_000113" "g.42666154del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42698416del" "" "pathogenic (dominant)" "" "0000730629" "1" "90" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42722333A>G" "" "pathogenic (dominant)" "" "0000730630" "1" "90" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704570C>T" "" "pathogenic (dominant)" "" "0000730631" "1" "90" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704535G>A" "" "pathogenic (dominant)" "" "0000730632" "1" "90" "6" "42689502" "42689502" "subst" "0" "00000" "PRPH2_000123" "g.42689502C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42721764C>A" "" "pathogenic (dominant)" "" "0000730633" "1" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "00000" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000730634" "1" "90" "6" "42672319" "42672319" "subst" "0" "00000" "PRPH2_000091" "g.42672319G>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704581G>C" "" "pathogenic (dominant)" "" "0000730635" "1" "90" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000730636" "1" "90" "6" "42689792" "42689792" "subst" "0" "00000" "PRPH2_000126" "g.42689792C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42722054C>T" "" "pathogenic (dominant)" "" "0000730637" "1" "90" "6" "42672305" "42672305" "subst" "0" "00000" "PRPH2_000121" "g.42672305A>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704567A>T" "" "pathogenic (dominant)" "" "0000730638" "1" "90" "6" "42672216" "42672216" "subst" "0" "00000" "PRPH2_000117" "g.42672216G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000730639" "1" "90" "6" "42672160" "42672160" "subst" "0" "00000" "PRPH2_000115" "g.42672160G>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704422G>C" "" "pathogenic (dominant)" "" "0000730640" "1" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000730641" "1" "90" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704535G>A" "" "pathogenic (dominant)" "" "0000730642" "1" "90" "6" "42672239" "42672239" "subst" "0" "00000" "PRPH2_000118" "g.42672239G>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704501G>C" "" "pathogenic (dominant)" "" "0000730643" "1" "90" "6" "42689762" "42689765" "del" "0" "00000" "PRPH2_000125" "g.42689762_42689765del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42722024_42722027del" "" "pathogenic (dominant)" "" "0000730644" "1" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000730645" "1" "90" "6" "42672305" "42672305" "subst" "0" "00000" "PRPH2_000121" "g.42672305A>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704567A>T" "" "pathogenic (dominant)" "" "0000730646" "1" "90" "6" "42689632" "42689632" "del" "4.06108E-6" "00000" "PRPH2_000002" "g.42689632del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42721894del" "" "pathogenic (dominant)" "" "0000730647" "1" "90" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000730648" "1" "90" "6" "42689563" "42689563" "dup" "0" "00000" "PRPH2_000124" "g.42689563dup" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42721825dup" "" "pathogenic (dominant)" "" "0000730649" "1" "90" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42722333A>G" "" "pathogenic (dominant)" "" "0000730650" "1" "90" "6" "42672267" "42672267" "subst" "0" "00000" "PRPH2_000048" "g.42672267A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704529A>G" "" "pathogenic (dominant)" "" "0000730651" "1" "90" "6" "42672182" "42672182" "subst" "0" "00000" "PRPH2_000116" "g.42672182C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704444C>T" "" "pathogenic (dominant)" "" "0000730652" "1" "90" "6" "42689632" "42689632" "del" "4.06108E-6" "00000" "PRPH2_000002" "g.42689632del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42721894del" "" "pathogenic (dominant)" "" "0000730653" "1" "90" "6" "42672277" "42672278" "del" "0" "00000" "PRPH2_000119" "g.42672277_42672278del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704539_42704540del" "" "pathogenic (dominant)" "" "0000730654" "1" "90" "6" "42689895" "42689895" "del" "0" "00000" "PRPH2_000127" "g.42689895del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42722157del" "" "pathogenic (dominant)" "" "0000730655" "1" "90" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42722333A>G" "" "pathogenic (dominant)" "" "0000730656" "1" "90" "6" "42672157" "42672157" "subst" "0" "00000" "PRPH2_000114" "g.42672157G>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.42704419G>C" "" "pathogenic (dominant)" "" "0000731002" "3" "70" "6" "42689551" "42689551" "subst" "0" "00000" "PRPH2_000130" "g.42689551C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.42721813C>T" "" "likely pathogenic (recessive)" "" "0000731003" "1" "70" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61755771" "0" "" "" "g.42722199G>A" "" "likely pathogenic (dominant)" "" "0000731004" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000731143" "3" "90" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731302" "0" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00006" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Essilfie 2018:29155698}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000731485" "1" "90" "6" "42672316" "42672333" "del" "0" "00000" "PRPH2_000129" "g.42672316_42672333del" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.42704578_42704595del" "" "pathogenic (dominant)" "" "0000732540" "1" "90" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000732541" "1" "90" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000732567" "0" "50" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "VUS" "" "0000732612" "0" "90" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic" "" "0000732635" "0" "90" "6" "42672321" "42672321" "subst" "0" "00000" "PRPH2_000137" "g.42672321A>G" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704583A>G" "" "pathogenic" "" "0000732638" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000732639" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000732641" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000732643" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000732644" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000732645" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000732646" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000732647" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000732762" "0" "70" "6" "42689648" "42689648" "subst" "4.06204E-6" "00000" "PRPH2_000140" "g.42689648C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721910C>T" "" "likely pathogenic" "" "0000732826" "0" "70" "6" "42672285" "42672285" "subst" "0" "00000" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704547G>A" "" "likely pathogenic" "" "0000732827" "0" "70" "6" "42689684" "42689684" "subst" "0" "00000" "PRPH2_000141" "g.42689684A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic" "" "0000732851" "0" "70" "6" "42689802" "42689802" "subst" "0" "00000" "PRPH2_000142" "g.42689802A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42722064A>G" "" "likely pathogenic" "" "0000732910" "0" "70" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Stone 2017:28559085}" "" "IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "g.42704362T>A" "" "likely pathogenic" "" "0000732911" "0" "70" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Stone 2017:28559085}" "" "IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "g.42704362T>A" "" "likely pathogenic" "" "0000732912" "0" "70" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Stone 2017:28559085}" "" "IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "g.42704362T>A" "" "likely pathogenic" "" "0000732913" "0" "70" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Stone 2017:28559085}" "" "IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "g.42704362T>A" "" "likely pathogenic" "" "0000732914" "0" "70" "6" "42689558" "42689558" "subst" "4.06085E-6" "00000" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721820C>T" "" "likely pathogenic" "" "0000732939" "0" "70" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Stone 2017:28559085}" "" "IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "g.42704362T>A" "" "likely pathogenic" "" "0000732940" "0" "70" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Stone 2017:28559085}" "" "IVS2+3 A>T" "" "Germline" "" "" "0" "" "" "g.42704362T>A" "" "likely pathogenic" "" "0000732941" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721913T>C" "" "likely pathogenic" "" "0000732942" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721913T>C" "" "likely pathogenic" "" "0000732943" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721913T>C" "" "likely pathogenic" "" "0000732944" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721913T>C" "" "likely pathogenic" "" "0000732945" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721913T>C" "" "likely pathogenic" "" "0000732946" "0" "70" "6" "42689573" "42689573" "subst" "0" "00000" "PRPH2_000139" "g.42689573C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721835C>T" "" "likely pathogenic" "" "0000732947" "0" "70" "6" "42689573" "42689573" "subst" "0" "00000" "PRPH2_000139" "g.42689573C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721835C>T" "" "likely pathogenic" "" "0000732948" "0" "70" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721836C>T" "" "likely pathogenic" "" "0000732949" "0" "70" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42722199G>A" "" "likely pathogenic" "" "0000732950" "0" "70" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42722199G>A" "" "likely pathogenic" "" "0000732951" "0" "70" "6" "42672293" "42672293" "subst" "0" "00000" "PRPH2_000136" "g.42672293C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704555C>T" "" "likely pathogenic" "" "0000732952" "0" "70" "6" "42672293" "42672293" "subst" "0" "00000" "PRPH2_000136" "g.42672293C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704555C>T" "" "likely pathogenic" "" "0000732953" "0" "70" "6" "42672216" "42672216" "subst" "0" "00000" "PRPH2_000117" "g.42672216G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704478G>A" "" "likely pathogenic" "" "0000732954" "0" "70" "6" "42672216" "42672216" "subst" "0" "00000" "PRPH2_000117" "g.42672216G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704478G>A" "" "likely pathogenic" "" "0000732955" "0" "70" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "likely pathogenic" "" "0000732956" "0" "70" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "likely pathogenic" "" "0000732957" "0" "70" "6" "42672266" "42672266" "subst" "0" "00000" "PRPH2_000134" "g.42672266C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704528C>T" "" "likely pathogenic" "" "0000732958" "0" "70" "6" "42672183" "42672183" "subst" "0" "00000" "PRPH2_000133" "g.42672183A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704445A>G" "" "likely pathogenic" "" "0000732959" "0" "70" "6" "42663546" "42670306" "delins" "0" "00000" "PRPH2_000131" "g.42663546_42670306delinsN[?]" "" "{PMID:Stone 2017:28559085}" "" "del ex3 insertion ALU Chr6:42663546-42670306del_insALU" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000732960" "0" "70" "6" "42672363" "42672363" "subst" "0" "00000" "PRPH2_000138" "g.42672363A>T" "" "{PMID:Stone 2017:28559085}" "" "IVS1-14 T>A" "" "Germline" "" "" "0" "" "" "g.42704625A>T" "" "likely pathogenic" "" "0000732961" "0" "70" "6" "42672269" "42672269" "subst" "0" "00000" "PRPH2_000135" "g.42672269G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.42704531G>A" "" "likely pathogenic" "" "0000735651" "0" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "pathogenic" "" "0000736058" "0" "90" "6" "42672284" "42672284" "subst" "0" "00000" "PRPH2_000143" "g.42672284G>C" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>C" "" "pathogenic" "" "0000736345" "1" "90" "6" "42689688" "42689691" "dup" "0" "00000" "PRPH2_000146" "g.42689688_42689691dup" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42721950_42721953dup" "" "pathogenic (dominant)" "ACMG" "0000736346" "1" "50" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "VUS" "ACMG" "0000736347" "1" "90" "6" "42689538" "42689538" "subst" "0" "00000" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.42721800A>G" "" "pathogenic (dominant)" "ACMG" "0000736348" "1" "70" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "ACMG" "0000736430" "1" "90" "6" "42672304" "42672315" "del" "0" "00008" "PRPH2_000102" "g.42672304_42672315del" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 616_627del" "4 Amino acid lost" "Germline" "yes" "" "0" "" "" "g.42704566_42704577del" "" "pathogenic" "" "0000736431" "1" "90" "6" "42672100" "42672100" "subst" "4.28798E-6" "00008" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: IVS2+3A>T" "Was “1068+3 A?T”" "Germline" "yes" "" "0" "" "" "g.42704362T>A" "" "pathogenic" "" "0000736432" "1" "90" "6" "42689937" "42689937" "subst" "1.62499E-5" "00008" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 136C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736433" "1" "90" "6" "42689696" "42689696" "subst" "0" "00008" "PRPH2_000106" "g.42689696A>C" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 377T>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736434" "1" "90" "6" "42689557" "42689557" "subst" "0" "00008" "PRPH2_000104" "g.42689557C>A" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 516G>T(Arg172Gln)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736435" "1" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "00008" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 554T>C" "Digenic with ROM1 Ala114fs" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736436" "1" "90" "6" "42672302" "42672302" "subst" "0" "00008" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 629C>G" "" "Germline" "yes" "" "0" "" "" "g.42704564G>C" "" "pathogenic" "" "0000736437" "1" "90" "6" "42672302" "42672302" "subst" "0" "00008" "PRPH2_000060" "g.42672302G>A" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 629C>T" "" "Germline" "yes" "" "0" "" "" "g.42704564G>A" "" "pathogenic" "" "0000736438" "1" "90" "6" "42672285" "42672285" "subst" "0" "00008" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 646C>T" "" "Germline" "yes" "" "0" "" "" "g.42704547G>A" "" "pathogenic" "" "0000736439" "1" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00008" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 647C>T" "" "Germline" "yes" "" "0" "" "" "g.42704546G>A" "" "pathogenic" "" "0000736440" "1" "90" "6" "42672134" "42672134" "subst" "0" "00008" "PRPH2_000100" "g.42672134C>T" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 797G>A" "Transmembrane site" "Germline" "yes" "" "0" "" "" "g.42704396C>T" "" "pathogenic" "" "0000736441" "1" "70" "6" "42689651" "42689651" "subst" "0" "00008" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 422A>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000736442" "1" "70" "6" "42672337" "42672337" "subst" "0" "00008" "PRPH2_000092" "g.42672337G>C" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 594C>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000736443" "1" "70" "6" "42672284" "42672284" "subst" "0" "00008" "PRPH2_000143" "g.42672284G>C" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 647C>G" "Other mutations at 216" "Germline" "yes" "" "0" "" "" "g.42704546G>C" "" "likely pathogenic" "" "0000736444" "1" "10" "6" "42689664" "42689664" "subst" "2.0313E-5" "00008" "PRPH2_000145" "g.42689664C>T" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 409G>A" "Family has another pathogenic mutation" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000736445" "1" "10" "6" "42689940" "42689940" "subst" "0.00100343" "00008" "PRPH2_000079" "g.42689940G>A" "" "{PMID:Sullivan 2006:16799052}" "" "RDS: 133C>T" "Common Caribbean variant" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000736499" "1" "90" "6" "42672134" "42672134" "subst" "0" "00000" "PRPH2_000100" "g.42672134C>T" "" "{PMID:Ezquerra-Inchausti 2017:28045043}" "" "" "" "Germline" "" "" "0" "" "" "g.42704396C>T" "" "pathogenic (dominant)" "ACMG" "0000736633" "1" "70" "6" "42690069" "42690069" "subst" "0" "00000" "PRPH2_000147" "g.42690069C>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "" "Germline" "" "" "0" "" "" "g.42722331C>A" "" "likely pathogenic" "" "0000736848" "1" "70" "6" "42672316" "42672333" "del" "0" "00000" "PRPH2_000129" "g.42672316_42672333del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "" "0" "" "" "g.42704578_42704595del" "" "likely pathogenic" "" "0000760364" "0" "70" "6" "42672272" "42672272" "subst" "8.12189E-6" "00000" "PRPH2_000021" "g.42672272C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.42704534C>T" "" "likely pathogenic" "" "0000760719" "1" "30" "6" "42672434" "42672434" "subst" "0" "00008" "PRPH2_000151" "g.42672434C>T" "-33.30%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.819-85G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000760720" "1" "30" "6" "42672416" "42672416" "subst" "0" "00008" "PRPH2_000150" "g.42672416A>T" "-33.30%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.819-67T>A (None) / rs3818086" "" "Germline" "" "rs3818086" "0" "" "" "" "" "likely benign" "" "0000760721" "1" "30" "6" "42672407" "42672407" "subst" "0" "00008" "PRPH2_000149" "g.42672407T>G" "-33.30%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.819-58A>G (None) / rs3818087" "" "Germline" "" "rs3818087" "0" "" "" "" "" "likely benign" "" "0000760722" "1" "90" "6" "42672302" "42672302" "subst" "0" "00008" "PRPH2_000101" "g.42672302G>C" "-8.30%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.866C>G (P210R)" "" "Germline" "" "" "0" "" "" "g.42704564G>C" "" "pathogenic" "" "0000760723" "1" "30" "6" "42666293" "42666293" "subst" "0.214304" "00008" "PRPH2_000148" "g.42666293G>A" "-25.00%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.1066-48C>T" "" "Germline" "" "" "0" "" "" "g.42698555G>A" "" "likely benign" "" "0000760724" "3" "30" "6" "42666164" "42666164" "subst" "0.775274" "00008" "PRPH2_000007" "g.42666164G>C" "-25.00%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.1147G>C (E304Q) / rs390659" "" "Germline" "" "rs390659" "0" "" "" "g.42698426G>C" "" "likely benign" "" "0000760725" "3" "30" "6" "42666145" "42666145" "subst" "0.912259" "00008" "PRPH2_000006" "g.42666145C>T" "-16.70%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.1166A>G (K310R) / rs425876" "" "Germline" "" "rs425876" "0" "" "" "g.42698407C>T" "" "likely benign" "" "0000760726" "3" "30" "6" "42666061" "42666061" "subst" "0.776534" "00008" "PRPH2_000003" "g.42666061T>C" "-25.00%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.1250G>A (G338D) / rs434102" "" "Germline" "" "rs434102" "0" "" "" "g.42698323T>C" "" "likely benign" "" "0000760739" "1" "30" "6" "42689755" "42689755" "subst" "0.577432" "00008" "PRPH2_000015" "g.42689755A>G" "-66.70%" "{PMID:Zhuk 2006:16885924}" "" "RDS:c.555C>T (V106V) / rs7764439" "" "Germline" "" "rs7764439" "0" "" "" "g.42722017A>G" "" "likely benign" "" "0000761308" "0" "90" "6" "42689491" "42690353" "del" "0" "00000" "PRPH2_000152" "g.(42672350_42689491)_(42690353_?)del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.(42704612_42721753)_(42722615_?)del" "" "pathogenic" "ACMG" "0000761309" "0" "90" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000761310" "0" "50" "6" "42665185" "42665188" "del" "0" "00000" "PRPH2_000153" "g.42665185_42665188del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, BS4, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42697447_42697450del" "" "VUS" "ACMG" "0000761311" "0" "50" "6" "42666065" "42666065" "subst" "0" "00000" "PRPH2_000154" "g.42666065C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42698327C>T" "" "VUS" "ACMG" "0000761312" "0" "50" "6" "42666069" "42666069" "subst" "0" "00000" "PRPH2_000155" "g.42666069C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, BS4, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42698331C>T" "" "VUS" "ACMG" "0000761313" "0" "50" "6" "42666079" "42666079" "subst" "0" "00000" "PRPH2_000156" "g.42666079A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs1582759492" "0" "" "" "g.42698341A>T" "" "VUS" "ACMG" "0000761314" "0" "90" "6" "42666083" "42666083" "subst" "0" "00000" "PRPH2_000157" "g.42666083G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs281865375" "0" "" "" "g.42698345G>A" "" "pathogenic" "ACMG" "0000761315" "0" "90" "6" "42666097" "42666100" "del" "0" "00000" "PRPH2_000158" "g.42666097_42666100del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42698359_42698362del" "" "pathogenic" "ACMG" "0000761316" "0" "90" "6" "42666113" "42666113" "subst" "0" "00000" "PRPH2_000159" "g.42666113C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42698375C>A" "" "pathogenic" "ACMG" "0000761317" "0" "90" "6" "42666127" "42666127" "subst" "0" "00000" "PRPH2_000160" "g.42666127C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs121918566" "0" "" "" "g.42698389C>T" "" "pathogenic" "ACMG" "0000761318" "0" "70" "6" "42666128" "42666128" "subst" "8.9351E-5" "00000" "PRPH2_000018" "g.42666128A>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1" "SUMMARY record" "" "" "0" "" "" "g.42698390A>C" "" "likely pathogenic" "ACMG" "0000761319" "0" "90" "6" "42666130" "42666130" "del" "0" "00000" "PRPH2_000161" "g.42666130del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PM6" "SUMMARY record" "" "" "0" "" "" "g.42698392del" "" "pathogenic" "ACMG" "0000761320" "0" "90" "6" "42666136" "42666137" "del" "0" "00000" "PRPH2_000162" "g.42666136_42666137del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42698398_42698399del" "" "pathogenic" "ACMG" "0000761321" "0" "50" "6" "42666136" "42666136" "subst" "0.000369576" "00000" "PRPH2_000044" "g.42666136G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PS4, BP4; contradictory ACMG categories" "SUMMARY record" "" "rs61748434" "0" "" "" "g.42698398G>A" "" "VUS" "ACMG" "0000761322" "0" "50" "6" "42666137" "42666137" "subst" "2.03079E-5" "00000" "PRPH2_000163" "g.42666137G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PS4, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42698399G>A" "" "VUS" "ACMG" "0000761323" "0" "70" "6" "42666151" "42666151" "subst" "2.84269E-5" "00000" "PRPH2_000164" "g.42666151A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42698413A>T" "" "likely pathogenic" "ACMG" "0000761324" "0" "90" "6" "42666152" "42666160" "del" "0" "00000" "PRPH2_000165" "g.42666152_42666160del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM4, PM2, PP3" "SUMMARY record" "" "rs281865374" "0" "" "" "g.42698414_42698422del" "" "pathogenic" "ACMG" "0000761325" "0" "90" "6" "42666154" "42666154" "del" "0" "00000" "PRPH2_000113" "g.42666154del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP1" "SUMMARY record" "" "rs61748433" "0" "" "" "g.42698416del" "" "pathogenic" "ACMG" "0000761326" "0" "50" "6" "42666160" "42666160" "subst" "0" "00000" "PRPH2_000166" "g.42666160C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs61748432" "0" "" "" "g.42698422C>T" "" "VUS" "ACMG" "0000761327" "0" "90" "6" "42666162" "42666162" "del" "0" "00000" "PRPH2_000167" "g.42666162del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP1" "SUMMARY record" "" "" "0" "" "" "g.42698424del" "" "pathogenic" "ACMG" "0000761328" "0" "90" "6" "42666171" "42666174" "del" "0" "00000" "PRPH2_000168" "g.42666171_42666174del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42698433_42698436del" "" "pathogenic" "ACMG" "0000761329" "0" "90" "6" "42666176" "42666177" "del" "0" "00000" "PRPH2_000071" "g.42666176_42666177del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs61748429" "0" "" "" "g.42698438_42698439del" "" "pathogenic" "ACMG" "0000761330" "0" "90" "6" "42666202" "42666203" "del" "0" "00000" "PRPH2_000169" "g.42666202_42666203del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42698464_42698465del" "" "pathogenic" "ACMG" "0000761331" "0" "90" "6" "42666205" "42666206" "del" "0" "00000" "PRPH2_000170" "g.42666205_42666206del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42698467_42698468del" "" "pathogenic" "ACMG" "0000761332" "0" "90" "6" "42666207" "42666214" "del" "0" "00000" "PRPH2_000107" "g.42666207_42666214del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs1554268546" "0" "" "" "g.42698469_42698476del" "" "pathogenic" "ACMG" "0000761333" "0" "50" "6" "42666208" "42666208" "subst" "0.000649741" "00000" "PRPH2_000009" "g.42666208G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PM6, PP3, BS1; contradictory ACMG categories" "SUMMARY record" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "ACMG" "0000761334" "0" "50" "6" "42666211" "42666211" "subst" "0" "00000" "PRPH2_000171" "g.42666211G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42698473G>T" "" "VUS" "ACMG" "0000761335" "0" "50" "6" "42666217" "42666217" "subst" "0" "00000" "PRPH2_000172" "g.42666217A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42698479A>G" "" "VUS" "ACMG" "0000761336" "0" "70" "6" "42666219" "42666219" "subst" "0" "00000" "PRPH2_000173" "g.42666219G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs62645938" "0" "" "" "g.42698481G>T" "" "likely pathogenic" "ACMG" "0000761337" "0" "70" "6" "42666224" "42666224" "subst" "8.12209E-6" "00000" "PRPH2_000174" "g.42666224G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42698486G>A" "" "likely pathogenic" "ACMG" "0000761338" "0" "90" "6" "42666246" "42666248" "del" "0" "00000" "PRPH2_000175" "g.42666246_42666248del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42698508_42698510del" "" "pathogenic" "ACMG" "0000761339" "0" "50" "6" "42666249" "42666249" "subst" "0" "00000" "PRPH2_000176" "g.42666249G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP1, PP3; contradictory ACMG categories" "SUMMARY record" "" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "ACMG" "0000761340" "0" "70" "6" "42672100" "42672107" "delins" "0" "00000" "PRPH2_000177" "g.42672100_42672107delinsCCAAATGAGGAGCCCAAATG" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704362_42704369delinsCCAAATGAGGAGCCCAAATG" "" "likely pathogenic" "ACMG" "0000761341" "0" "70" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP1, PP3" "SUMMARY record" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic" "ACMG" "0000761342" "0" "70" "6" "42672101" "42672101" "subst" "0" "00000" "PRPH2_000178" "g.42672101A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP1, PP3," "SUMMARY record" "" "" "0" "" "" "g.42704363A>G" "" "likely pathogenic" "ACMG" "0000761343" "0" "90" "6" "42672102" "42672102" "subst" "0" "00000" "PRPH2_000019" "g.42672102C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PS3, PM2, PM5, PP1_strong, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704364C>T" "" "pathogenic" "ACMG" "0000761344" "0" "70" "6" "42672105" "42672105" "subst" "0" "00000" "PRPH2_000179" "g.42672105C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704367C>A" "" "likely pathogenic" "ACMG" "0000761345" "0" "90" "6" "42672106" "42672107" "del" "0" "00000" "PRPH2_000180" "g.42672106_42672107del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PM6" "SUMMARY record" "" "" "0" "" "" "g.42704368_42704369del" "" "pathogenic" "ACMG" "0000761346" "0" "90" "6" "42672114" "42672124" "del" "0" "00000" "PRPH2_000181" "g.42672114_42672124del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs1582764504" "0" "" "" "g.42704376_42704386del" "" "pathogenic" "ACMG" "0000761347" "0" "70" "6" "42672121" "42672123" "del" "0" "00000" "PRPH2_000051" "g.42672121_42672123del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704383_42704385del" "" "likely pathogenic" "ACMG" "0000761348" "0" "90" "6" "42672121" "42672121" "del" "0" "00000" "PRPH2_000182" "g.42672121del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs1582764528" "0" "" "" "g.42704383del" "" "pathogenic" "ACMG" "0000761349" "0" "90" "6" "42672122" "42672123" "del" "0" "00000" "PRPH2_000183" "g.42672122_42672123del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PM5" "SUMMARY record" "" "" "0" "" "" "g.42704384_42704385del" "" "pathogenic" "ACMG" "0000761350" "0" "90" "6" "42672129" "42672129" "subst" "1.69102E-5" "00000" "PRPH2_000184" "g.42672129C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PS4" "SUMMARY record" "" "rs62645936" "0" "" "" "g.42704391C>T" "" "pathogenic" "ACMG" "0000761351" "0" "70" "6" "42672134" "42672134" "subst" "0" "00000" "PRPH2_000100" "g.42672134C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM2, PP1_strong, PP3" "SUMMARY record" "" "rs62645935" "0" "" "" "g.42704396C>T" "" "likely pathogenic" "ACMG" "0000761352" "0" "50" "6" "42672150" "42672150" "subst" "0.000113754" "00000" "PRPH2_000072" "g.42672150G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, BP4; contradictory ACMG categories" "SUMMARY record" "" "rs62645935" "0" "" "" "g.42704412G>A" "" "VUS" "ACMG" "0000761353" "0" "90" "6" "42672157" "42672157" "subst" "0" "00000" "PRPH2_000114" "g.42672157G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704419G>C" "" "pathogenic" "ACMG" "0000761354" "0" "90" "6" "42672157" "42672157" "subst" "0" "00000" "PRPH2_000185" "g.42672157G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs121918564" "0" "" "" "g.42704419G>T" "" "pathogenic" "ACMG" "0000761355" "0" "90" "6" "42672160" "42672160" "subst" "0" "00000" "PRPH2_000115" "g.42672160G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704422G>C" "" "pathogenic" "ACMG" "0000761356" "0" "90" "6" "42672162" "42672182" "delins" "0" "00000" "PRPH2_000186" "g.42672162_42672182delinsTCATG" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PM4, PP1" "SUMMARY record" "" "" "0" "" "" "g.42704424_42704444delinsTCATG" "" "pathogenic" "ACMG" "0000761357" "0" "90" "6" "42672170" "42672170" "subst" "0" "00000" "PRPH2_000187" "g.42672170A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704432A>T" "" "pathogenic" "ACMG" "0000761358" "0" "70" "6" "42672173" "42672173" "subst" "0" "00000" "PRPH2_000188" "g.42672173G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2,PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704435G>T" "" "likely pathogenic" "ACMG" "0000761359" "0" "50" "6" "42672177" "42672177" "subst" "0" "00000" "PRPH2_000189" "g.42672177C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42704439C>G" "" "VUS" "ACMG" "0000761360" "0" "90" "6" "42672182" "42672182" "subst" "4.13476E-6" "00000" "PRPH2_000190" "g.42672182C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PS4, PM1, PM2, PP1_strong, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704444C>A" "" "pathogenic" "ACMG" "0000761361" "0" "70" "6" "42672182" "42672182" "subst" "0" "00000" "PRPH2_000116" "g.42672182C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PM6, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704444C>T" "" "likely pathogenic" "ACMG" "0000761362" "0" "70" "6" "42672183" "42672183" "subst" "0" "00000" "PRPH2_000053" "g.42672183A>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP1_strong, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic" "ACMG" "0000761363" "0" "70" "6" "42672183" "42672183" "subst" "0" "00000" "PRPH2_000133" "g.42672183A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704445A>G" "" "likely pathogenic" "ACMG" "0000761364" "0" "70" "6" "42672183" "42672183" "subst" "0" "00000" "PRPH2_000191" "g.42672183A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3, PP5" "SUMMARY record" "" "rs1064793931" "0" "" "" "g.42704445A>T" "" "likely pathogenic" "ACMG" "0000761365" "0" "70" "6" "42672186" "42672186" "subst" "0" "00000" "PRPH2_000192" "g.42672186C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704448C>T" "" "likely pathogenic" "ACMG" "0000761366" "0" "90" "6" "42672186" "42672186" "del" "0" "00000" "PRPH2_000074" "g.42672186del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704448del" "" "pathogenic" "ACMG" "0000761367" "0" "90" "6" "42672193" "42672196" "dup" "0" "00000" "PRPH2_000194" "g.42672193_42672196dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704455_42704458dup" "" "pathogenic" "ACMG" "0000761368" "0" "70" "6" "42672193" "42672193" "subst" "0" "00000" "PRPH2_000193" "g.42672193C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704455C>G" "" "likely pathogenic" "ACMG" "0000761369" "0" "70" "6" "42672195" "42672201" "delins" "0" "00000" "PRPH2_000196" "g.42672195_42672201delinsGTCTGGTGCACCCGTCTGGAGGAGCTG" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704457_42704463delinsGTCTGGTGCACCCGTCTGGAGGAGCTG" "" "likely pathogenic" "ACMG" "0000761370" "0" "70" "6" "42672195" "42672195" "subst" "0" "00000" "PRPH2_000195" "g.42672195A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2, PP3," "SUMMARY record" "" "rs61755817" "0" "" "" "g.42704457A>G" "" "likely pathogenic" "ACMG" "0000761371" "0" "90" "6" "42672199" "42672199" "subst" "0" "00000" "PRPH2_000088" "g.42672199G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS1, PS3, PM1, PM2, PP1_strong, PP3" "SUMMARY record" "" "rs61755816" "0" "" "" "g.42704461G>C" "" "pathogenic" "ACMG" "0000761372" "0" "90" "6" "42672199" "42672199" "subst" "0" "00000" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS1, PS3, PM1, PM2, PP1_strong, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704461G>T" "" "pathogenic" "ACMG" "0000761373" "0" "90" "6" "42672201" "42672201" "subst" "0" "00000" "PRPH2_000197" "g.42672201T>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2, PM5, PP1_moderate, PP3" "SUMMARY record" "" "rs61755815" "0" "" "" "g.42704463T>G" "" "pathogenic" "ACMG" "0000761374" "0" "50" "6" "42672206" "42672206" "subst" "0.000476835" "00000" "PRPH2_000010" "g.42672206T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs542296728" "0" "" "" "g.42704468T>C" "" "VUS" "ACMG" "0000761375" "0" "70" "6" "42672211" "42672222" "del" "0" "00000" "PRPH2_000198" "g.42672211_42672222del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704473_42704484del" "" "likely pathogenic" "ACMG" "0000761376" "0" "90" "6" "42672216" "42672216" "subst" "0" "00000" "PRPH2_000117" "g.42672216G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic" "ACMG" "0000761377" "0" "30" "6" "42672223" "42672223" "subst" "0.000142333" "00000" "PRPH2_000199" "g.42672223G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, BP4" "SUMMARY record" "" "rs61755813" "0" "" "" "g.42704485G>A" "" "likely benign" "ACMG" "0000761378" "0" "90" "6" "42672223" "42672223" "subst" "0" "00000" "PRPH2_000055" "g.42672223G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704485G>C" "" "pathogenic" "ACMG" "0000761379" "0" "90" "6" "42672231" "42672231" "dup" "0" "00000" "PRPH2_000200" "g.42672231dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs61755812" "0" "" "" "g.42704493dup" "" "pathogenic" "ACMG" "0000761380" "0" "90" "6" "42672239" "42672239" "subst" "0" "00000" "PRPH2_000118" "g.42672239G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs1554269046" "0" "" "" "g.42704501G>C" "" "pathogenic" "ACMG" "0000761381" "0" "70" "6" "42672248" "42672248" "subst" "4.06121E-5" "00000" "PRPH2_000201" "g.42672248G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704510G>A" "" "likely pathogenic" "ACMG" "0000761382" "0" "90" "6" "42672255" "42672255" "subst" "0" "00000" "PRPH2_000202" "g.42672255G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs61755811" "0" "" "" "g.42704517G>A" "" "pathogenic" "ACMG" "0000761383" "0" "70" "6" "42672263" "42672263" "subst" "0" "00000" "PRPH2_000080" "g.42672263A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704525A>T" "" "likely pathogenic" "ACMG" "0000761384" "0" "90" "6" "42672266" "42672266" "subst" "0" "00000" "PRPH2_000203" "g.42672266C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PM5, PP3, PP5" "SUMMARY record" "" "" "0" "" "" "g.42704528C>G" "" "pathogenic" "ACMG" "0000761385" "0" "90" "6" "42672266" "42672266" "subst" "0" "00000" "PRPH2_000134" "g.42672266C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PM5, PP3, PP5" "SUMMARY record" "" "" "0" "" "" "g.42704528C>T" "" "pathogenic" "ACMG" "0000761386" "0" "70" "6" "42672267" "42672272" "del" "0" "00000" "PRPH2_000205" "g.42672267_42672272del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704529_42704534del" "" "likely pathogenic" "ACMG" "0000761387" "0" "70" "6" "42672267" "42672267" "subst" "0" "00000" "PRPH2_000048" "g.42672267A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "rs1554269053" "0" "" "" "g.42704529A>G" "" "likely pathogenic" "ACMG" "0000761388" "0" "50" "6" "42672267" "42672267" "subst" "0" "00000" "PRPH2_000204" "g.42672267A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42704529A>T" "" "VUS" "ACMG" "0000761389" "0" "50" "6" "42672269" "42672269" "subst" "0" "00000" "PRPH2_000135" "g.42672269G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42704531G>A" "" "VUS" "ACMG" "0000761390" "0" "70" "6" "42672272" "42672277" "del" "0" "00000" "PRPH2_000020" "g.42672272_42672277del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704534_42704539del" "" "likely pathogenic" "ACMG" "0000761391" "0" "70" "6" "42672272" "42672272" "subst" "0" "00000" "PRPH2_000206" "g.42672272C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704534C>G" "" "likely pathogenic" "ACMG" "0000761392" "0" "90" "6" "42672272" "42672272" "subst" "8.12189E-6" "00000" "PRPH2_000021" "g.42672272C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PS3, PM1, PP1_moderate, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704534C>T" "" "pathogenic" "ACMG" "0000761393" "0" "90" "6" "42672273" "42672273" "del" "0" "00000" "PRPH2_000022" "g.42672273del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP1" "SUMMARY record" "" "" "0" "" "" "g.42704535del" "" "pathogenic" "ACMG" "0000761394" "0" "90" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2, PM5, PP3" "SUMMARY record" "" "rs61755809" "0" "" "" "g.42704535G>A" "" "pathogenic" "ACMG" "0000761395" "0" "70" "6" "42672274" "42672276" "del" "0" "00000" "PRPH2_000207" "g.42672274_42672276del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic" "ACMG" "0000761396" "0" "70" "6" "42672275" "42672275" "subst" "1.21826E-5" "00000" "PRPH2_000208" "g.42672275G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704537G>C" "" "likely pathogenic" "ACMG" "0000761397" "0" "90" "6" "42672278" "42672278" "subst" "0" "00000" "PRPH2_000209" "g.42672278G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704540G>T" "" "pathogenic" "ACMG" "0000761398" "0" "50" "6" "42672279" "42672279" "subst" "0" "00000" "PRPH2_000210" "g.42672279A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs1582764878" "0" "" "" "g.42704541A>G" "" "VUS" "ACMG" "0000761399" "0" "90" "6" "42672282" "42672285" "delins" "0" "00000" "PRPH2_000212" "g.42672282_42672285delinsCC" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704544_42704547delinsCC" "" "pathogenic" "ACMG" "0000761400" "0" "50" "6" "42672282" "42672282" "subst" "2.03047E-5" "00000" "PRPH2_000211" "g.42672282T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, BP4; contradictory ACMG categories" "SUMMARY record" "" "rs767471467" "0" "" "" "g.42704544T>C" "" "VUS" "ACMG" "0000761401" "0" "50" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP1_moderate, BP4; contradictory ACMG categories" "SUMMARY record" "" "rs61755806" "0" "" "" "g.42704546G>A" "" "VUS" "ACMG" "0000761402" "0" "70" "6" "42672284" "42672284" "subst" "0" "00000" "PRPH2_000143" "g.42672284G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704546G>C" "" "likely pathogenic" "ACMG" "0000761403" "0" "70" "6" "42672285" "42672285" "subst" "0" "00000" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP1_moderate, PP3" "SUMMARY record" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic" "ACMG" "0000761404" "0" "70" "6" "42672285" "42672285" "subst" "0" "00000" "PRPH2_000213" "g.42672285G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704547G>C" "" "likely pathogenic" "ACMG" "0000761405" "0" "70" "6" "42672288" "42672288" "subst" "0" "00000" "PRPH2_000214" "g.42672288T>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3, PP5" "SUMMARY record" "" "" "0" "" "" "g.42704550T>A" "" "likely pathogenic" "ACMG" "0000761406" "0" "90" "6" "42672289" "42672289" "subst" "0" "00000" "PRPH2_000215" "g.42672289G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704551G>T" "" "pathogenic" "ACMG" "0000761407" "0" "90" "6" "42672290" "42672290" "subst" "0" "00000" "PRPH2_000216" "g.42672290C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs61755804" "0" "" "" "g.42704552C>G" "" "pathogenic" "ACMG" "0000761408" "0" "70" "6" "42672290" "42672290" "subst" "0" "00000" "PRPH2_000217" "g.42672290C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP1_moderate, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704552C>T" "" "likely pathogenic" "ACMG" "0000761409" "0" "70" "6" "42672292" "42672292" "subst" "0" "00000" "PRPH2_000218" "g.42672292G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704554G>C" "" "likely pathogenic" "ACMG" "0000761410" "0" "70" "6" "42672293" "42672293" "subst" "0" "00000" "PRPH2_000219" "g.42672293C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704555C>A" "" "likely pathogenic" "ACMG" "0000761411" "0" "70" "6" "42672293" "42672293" "subst" "0" "00000" "PRPH2_000220" "g.42672293C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704555C>G" "" "likely pathogenic" "ACMG" "0000761412" "0" "90" "6" "42672293" "42672293" "subst" "0" "00000" "PRPH2_000136" "g.42672293C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PS4, PM1, PM5, PP1, PP3" "SUMMARY record" "" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic" "ACMG" "0000761413" "0" "70" "6" "42672294" "42672294" "subst" "4.06118E-6" "00000" "PRPH2_000221" "g.42672294A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "rs61755802" "0" "" "" "g.42704556A>G" "" "likely pathogenic" "ACMG" "0000761414" "0" "70" "6" "42672296" "42672296" "subst" "0" "00000" "PRPH2_000090" "g.42672296C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "rs61755801" "0" "" "" "g.42704558C>G" "" "likely pathogenic" "ACMG" "0000761416" "0" "70" "6" "42672297" "42672297" "subst" "0" "00000" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1_moderate, PP3" "SUMMARY record" "" "rs61755800" "0" "" "" "g.42704559T>C" "" "likely pathogenic" "ACMG" "0000761417" "0" "90" "6" "42672298" "42672298" "subst" "0" "00000" "PRPH2_000026" "g.42672298G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic" "ACMG" "0000761418" "0" "90" "6" "42672300" "42672300" "subst" "0" "00000" "PRPH2_000012" "g.42672300A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS1, PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704562A>G" "" "pathogenic" "ACMG" "0000761419" "0" "70" "6" "42672302" "42672302" "subst" "0" "00000" "PRPH2_000060" "g.42672302G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "rs61755798" "0" "" "" "g.42704564G>A" "" "likely pathogenic" "ACMG" "0000761420" "0" "70" "6" "42672302" "42672302" "subst" "0" "00000" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP1_strong, PP3" "SUMMARY record" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "likely pathogenic" "ACMG" "0000761421" "0" "70" "6" "42672303" "42672303" "subst" "0" "00000" "PRPH2_000120" "g.42672303G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM, PM2, PM5, PP3" "SUMMARY record" "" "rs61755797" "0" "" "" "g.42704565G>A" "" "likely pathogenic" "ACMG" "0000761422" "0" "70" "6" "42672304" "42672315" "del" "0" "00000" "PRPH2_000102" "g.42672304_42672315del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "rs62645934" "0" "" "" "g.42704566_42704577del" "" "likely pathogenic" "ACMG" "0000761423" "0" "70" "6" "42672305" "42672305" "subst" "0" "00000" "PRPH2_000121" "g.42672305A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704567A>T" "" "likely pathogenic" "ACMG" "0000761424" "0" "90" "6" "42672305" "42672305" "del" "0" "00000" "PRPH2_000222" "g.42672305del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704567del" "" "pathogenic" "ACMG" "0000761425" "0" "70" "6" "42672306" "42672306" "subst" "0" "00000" "PRPH2_000108" "g.42672306C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "rs753657349" "0" "" "" "g.42704568C>A" "" "likely pathogenic" "ACMG" "0000761426" "0" "90" "6" "42672306" "42672306" "subst" "2.84336E-5" "00000" "PRPH2_000109" "g.42672306C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PS3, PM1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704568C>T" "" "pathogenic" "ACMG" "0000761427" "0" "70" "6" "42672307" "42672315" "del" "0" "00000" "PRPH2_000223" "g.42672307_42672315del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "rs62645934" "0" "" "" "g.42704569_42704577del" "" "likely pathogenic" "ACMG" "0000761428" "0" "70" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP1, PP3" "SUMMARY record" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic" "ACMG" "0000761429" "0" "90" "6" "42672309" "42672309" "dup" "0" "00000" "PRPH2_000224" "g.42672309dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704571dup" "" "pathogenic" "ACMG" "0000761430" "0" "90" "6" "42672310" "42672326" "del" "0" "00000" "PRPH2_000097" "g.42672310_42672326del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic" "ACMG" "0000761431" "0" "90" "6" "42672311" "42672324" "del" "0" "00000" "PRPH2_000227" "g.42672311_42672324del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.42704573_42704586del" "" "pathogenic" "ACMG" "0000761432" "0" "50" "6" "42672311" "42672311" "subst" "0" "00000" "PRPH2_000226" "g.42672311T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42704573T>C" "" "VUS" "ACMG" "0000761433" "0" "70" "6" "42672316" "42672333" "del" "0" "00000" "PRPH2_000129" "g.42672316_42672333del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704578_42704595del" "" "likely pathogenic" "ACMG" "0000761434" "0" "50" "6" "42672317" "42672317" "subst" "0" "00000" "PRPH2_000029" "g.42672317A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42704579A>G" "" "VUS" "ACMG" "0000761435" "0" "90" "6" "42672319" "42672319" "subst" "0" "00000" "PRPH2_000091" "g.42672319G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs1554269081" "0" "" "" "g.42704581G>C" "" "pathogenic" "ACMG" "0000761436" "0" "50" "6" "42672321" "42672321" "subst" "0" "00000" "PRPH2_000137" "g.42672321A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42704583A>G" "" "VUS" "ACMG" "0000761437" "0" "70" "6" "42672332" "42672332" "subst" "0" "00000" "PRPH2_000110" "g.42672332A>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704594A>C" "" "likely pathogenic" "ACMG" "0000761438" "0" "70" "6" "42672332" "42672332" "subst" "0" "00000" "PRPH2_000228" "g.42672332A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic" "ACMG" "0000761439" "0" "90" "6" "42672334" "42672334" "del" "0" "00000" "PRPH2_000229" "g.42672334del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704596del" "" "pathogenic" "ACMG" "0000761440" "0" "50" "6" "42672336" "42672336" "subst" "0" "00000" "PRPH2_000230" "g.42672336T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42704598T>C" "" "VUS" "ACMG" "0000761441" "0" "90" "6" "42672337" "42672337" "subst" "0" "00000" "PRPH2_000092" "g.42672337G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS1, PS3, PM1, PM2, PP3" "SUMMARY record" "" "rs375978676" "0" "" "" "g.42704599G>C" "" "pathogenic" "ACMG" "0000761442" "0" "90" "6" "42672339" "42672339" "subst" "0" "00000" "PRPH2_000122" "g.42672339T>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS1, PS3, PM1, PM2, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704601T>G" "" "pathogenic" "ACMG" "0000761443" "0" "90" "6" "42672342" "42672343" "dup" "0" "00000" "PRPH2_000231" "g.42672342_42672343dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42704604_42704605dup" "" "pathogenic" "ACMG" "0000761444" "0" "70" "6" "42672342" "42672342" "subst" "0" "00000" "PRPH2_000062" "g.42672342T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs62645931" "0" "" "" "g.42704604T>C" "" "likely pathogenic" "ACMG" "0000761445" "0" "70" "6" "42672344" "42672344" "subst" "0" "00000" "PRPH2_000232" "g.42672344A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP5, PP3" "SUMMARY record" "" "rs1131691378" "0" "" "" "g.42704606A>T" "" "likely pathogenic" "ACMG" "0000761446" "0" "50" "6" "42672345" "42672345" "subst" "0" "00000" "PRPH2_000233" "g.42672345T>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42704607T>A" "" "VUS" "ACMG" "0000761447" "0" "70" "6" "42672347" "42672347" "subst" "4.06838E-6" "00000" "PRPH2_000234" "g.42672347C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PM2, PP3" "SUMMARY record" "" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic" "ACMG" "0000761448" "0" "70" "6" "42672347" "42672347" "subst" "0" "00000" "PRPH2_000030" "g.42672347C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "rs121918567" "0" "" "" "g.42704609C>T" "" "likely pathogenic" "ACMG" "0000761449" "0" "90" "6" "42672348" "42672348" "subst" "4.06954E-6" "00000" "PRPH2_000235" "g.42672348G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PS4, PM1" "SUMMARY record" "" "" "0" "" "" "g.42704610G>A" "" "pathogenic" "ACMG" "0000761450" "0" "70" "6" "42672348" "42672348" "subst" "0" "00000" "PRPH2_000236" "g.42672348G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704610G>C" "" "likely pathogenic" "ACMG" "0000761451" "0" "70" "6" "42672349" "42672349" "subst" "0" "00000" "PRPH2_000237" "g.42672349A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP1," "SUMMARY record" "" "" "0" "" "" "g.42704611A>T" "" "likely pathogenic" "ACMG" "0000761452" "0" "90" "6" "42672350" "42672350" "subst" "0" "00000" "PRPH2_000031" "g.42672350C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704612C>T" "" "pathogenic" "ACMG" "0000761453" "0" "90" "6" "42672351" "42672351" "subst" "0" "00000" "PRPH2_000032" "g.42672351T>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP3" "SUMMARY record" "" "" "0" "" "" "g.42704613T>A" "" "pathogenic" "ACMG" "0000761454" "0" "50" "6" "42689488" "42689488" "dup" "0" "00000" "PRPH2_000238" "g.42689488dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP1, PP3; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42721750dup" "" "VUS" "ACMG" "0000761455" "0" "90" "6" "42689491" "42689491" "subst" "0" "00000" "PRPH2_000239" "g.42689491C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721753C>G" "" "pathogenic" "ACMG" "0000761456" "0" "90" "6" "42689491" "42689491" "subst" "0" "00000" "PRPH2_000240" "g.42689491C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721753C>T" "" "pathogenic" "ACMG" "0000761457" "0" "90" "6" "42689495" "42689496" "del" "0" "00000" "PRPH2_000241" "g.42689495_42689496del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM1, PP1" "SUMMARY record" "" "rs62645929" "0" "" "" "g.42721757_42721758del" "" "pathogenic" "ACMG" "0000761458" "0" "90" "6" "42689502" "42689502" "subst" "0" "00000" "PRPH2_000123" "g.42689502C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42721764C>A" "" "pathogenic" "ACMG" "0000761459" "0" "50" "6" "42689517" "42689517" "subst" "0" "00000" "PRPH2_000242" "g.42689517C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42721779C>T" "" "VUS" "ACMG" "0000761460" "0" "70" "6" "42689519" "42689519" "subst" "8.12427E-6" "00000" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP1, PP3" "SUMMARY record" "" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic" "ACMG" "0000761461" "0" "70" "6" "42689522" "42689522" "subst" "0" "00000" "PRPH2_000243" "g.42689522T>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs62645926" "0" "" "" "g.42721784T>G" "" "likely pathogenic" "ACMG" "0000761462" "0" "50" "6" "42689533" "42689533" "subst" "0" "00000" "PRPH2_000244" "g.42689533G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42721795G>C" "" "VUS" "ACMG" "0000761463" "0" "70" "6" "42689536" "42689536" "subst" "4.06108E-6" "00000" "PRPH2_000245" "g.42689536C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "rs61755796" "0" "" "" "g.42721798C>A" "" "likely pathogenic" "ACMG" "0000761464" "0" "70" "6" "42689537" "42689537" "subst" "0" "00000" "PRPH2_000246" "g.42689537C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721799C>A" "" "likely pathogenic" "ACMG" "0000761465" "0" "70" "6" "42689538" "42689538" "subst" "0" "00000" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic" "ACMG" "0000761466" "0" "70" "6" "42689540" "42689540" "subst" "0" "00000" "PRPH2_000103" "g.42689540T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3, PP5" "SUMMARY record" "" "rs61755795" "0" "" "" "g.42721802T>C" "" "likely pathogenic" "ACMG" "0000761467" "0" "50" "6" "42689551" "42689551" "subst" "0" "00000" "PRPH2_000247" "g.42689551C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs1064793237" "0" "" "" "g.42721813C>G" "" "VUS" "ACMG" "0000761468" "0" "90" "6" "42689551" "42689551" "subst" "0" "00000" "PRPH2_000130" "g.42689551C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42721813C>T" "" "pathogenic" "ACMG" "0000761469" "0" "50" "6" "42689552" "42689552" "subst" "0" "00000" "PRPH2_000248" "g.42689552C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42721814C>G" "" "VUS" "ACMG" "0000761470" "0" "70" "6" "42689553" "42689553" "subst" "4.06075E-6" "00000" "PRPH2_000033" "g.42689553A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721815A>T" "" "likely pathogenic" "ACMG" "0000761471" "0" "70" "6" "42689555" "42689555" "subst" "0" "00000" "PRPH2_000249" "g.42689555T>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic" "ACMG" "0000761472" "0" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "00000" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PS4, PM1, PM5, PP1_strong, PP3" "SUMMARY record" "" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic" "ACMG" "0000761473" "0" "90" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PS4, PM1, PM2,PM5, PP1_strong, PP3" "SUMMARY record" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic" "ACMG" "0000761474" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000250" "g.42689559G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "rs61755792" "0" "" "" "g.42721821G>C" "" "likely pathogenic" "ACMG" "0000761475" "0" "90" "6" "42689563" "42689563" "dup" "0" "00000" "PRPH2_000124" "g.42689563dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42721825dup" "" "pathogenic" "ACMG" "0000761476" "0" "70" "6" "42689570" "42689572" "del" "0" "00000" "PRPH2_000036" "g.42689570_42689572del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP1_moderate, PP3" "SUMMARY record" "" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic" "ACMG" "0000761477" "0" "90" "6" "42689573" "42689573" "subst" "0" "00000" "PRPH2_000139" "g.42689573C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1_strong, PP3" "SUMMARY record" "" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic" "ACMG" "0000761478" "0" "90" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2, PP1_strong_PP3" "SUMMARY record" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "pathogenic" "ACMG" "0000761479" "0" "50" "6" "42689576" "42689576" "subst" "0" "00000" "PRPH2_000251" "g.42689576C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs786205579" "0" "" "" "g.42721838C>T" "" "VUS" "ACMG" "0000761480" "0" "70" "6" "42689579" "42689579" "subst" "0" "00000" "PRPH2_000252" "g.42689579C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721841C>A" "" "likely pathogenic" "ACMG" "0000761481" "0" "70" "6" "42689579" "42689579" "subst" "0" "00000" "PRPH2_000253" "g.42689579C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic" "ACMG" "0000761482" "0" "70" "6" "42689580" "42689580" "subst" "0" "00000" "PRPH2_000254" "g.42689580A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic" "ACMG" "0000761483" "0" "50" "6" "42689590" "42689590" "subst" "0.000381717" "00000" "PRPH2_000075" "g.42689590G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42721852G>C" "" "VUS" "ACMG" "0000761484" "0" "90" "6" "42689595" "42689595" "subst" "0" "00000" "PRPH2_000255" "g.42689595G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs1582780550" "0" "" "" "g.42721857G>A" "" "pathogenic" "ACMG" "0000761485" "0" "70" "6" "42689604" "42689604" "subst" "0" "00000" "PRPH2_000256" "g.42689604C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs61755787" "0" "" "" "g.42721866C>T" "" "likely pathogenic" "ACMG" "0000761486" "0" "70" "6" "42689609" "42689609" "subst" "1.21824E-5" "00000" "PRPH2_000257" "g.42689609G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721871G>A" "" "likely pathogenic" "ACMG" "0000761487" "0" "50" "6" "42689613" "42689613" "subst" "4.06072E-6" "00000" "PRPH2_000258" "g.42689613T>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42721875T>G" "" "VUS" "ACMG" "0000761488" "0" "70" "6" "42689615" "42689617" "del" "0" "00000" "PRPH2_000084" "g.42689615_42689617del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "rs61755786" "0" "" "" "g.42721877_42721879del" "" "likely pathogenic" "ACMG" "0000761489" "0" "70" "6" "42689615" "42689615" "subst" "0" "00000" "PRPH2_000038" "g.42689615T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "rs61755785" "0" "" "" "g.42721877T>C" "" "likely pathogenic" "ACMG" "0000761490" "0" "50" "6" "42689615" "42689615" "subst" "0" "00000" "PRPH2_000259" "g.42689615T>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42721877T>G" "" "VUS" "ACMG" "0000761491" "0" "70" "6" "42689616" "42689616" "subst" "0" "00000" "PRPH2_000260" "g.42689616T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721878T>C" "" "likely pathogenic" "ACMG" "0000761492" "0" "50" "6" "42689619" "42689619" "subst" "4.06088E-5" "00000" "PRPH2_000065" "g.42689619T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42721881T>C" "" "VUS" "ACMG" "0000761493" "0" "90" "6" "42689632" "42689632" "del" "4.06108E-6" "00000" "PRPH2_000002" "g.42689632del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PS4, PM1, PP1" "SUMMARY record" "" "rs61755784" "0" "" "" "g.42721894del" "" "pathogenic" "ACMG" "0000761494" "0" "90" "6" "42689640" "42689641" "del" "0" "00000" "PRPH2_000039" "g.42689640_42689641del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, BS4" "SUMMARY record" "" "" "0" "" "" "g.42721902_42721903del" "" "pathogenic" "ACMG" "0000761495" "0" "70" "6" "42689648" "42689648" "subst" "4.06204E-6" "00000" "PRPH2_000140" "g.42689648C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PM5, PP3" "SUMMARY record" "" "rs554945964" "0" "" "" "g.42721910C>T" "" "likely pathogenic" "ACMG" "0000761496" "0" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP1_strong, PP3" "SUMMARY record" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic" "ACMG" "0000761497" "0" "90" "6" "42689650" "42689650" "subst" "0" "00000" "PRPH2_000261" "g.42689650G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42721912G>T" "" "pathogenic" "ACMG" "0000761498" "0" "90" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2,PP1, PP3" "SUMMARY record" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic" "ACMG" "0000761499" "0" "90" "6" "42689652" "42689655" "dup" "0" "00000" "PRPH2_000263" "g.42689652_42689655dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP1_strong" "SUMMARY record" "" "rs672601326" "0" "" "" "g.42721914_42721917dup" "" "pathogenic" "ACMG" "0000761500" "0" "90" "6" "42689652" "42689652" "subst" "0" "00000" "PRPH2_000262" "g.42689652A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS3, PM1, PM2,PP1, PP3" "SUMMARY record" "" "rs61755780" "0" "" "" "g.42721914A>G" "" "pathogenic" "ACMG" "0000761501" "0" "70" "6" "42689657" "42689659" "del" "0" "00000" "PRPH2_000264" "g.42689657_42689659del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721919_42721921del" "" "likely pathogenic" "ACMG" "0000761502" "0" "50" "6" "42689663" "42689663" "subst" "0" "00000" "PRPH2_000265" "g.42689663C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs527236097" "0" "" "" "g.42721925C>T" "" "VUS" "ACMG" "0000761503" "0" "50" "6" "42689670" "42689670" "subst" "0" "00000" "PRPH2_000266" "g.42689670T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42721932T>C" "" "VUS" "ACMG" "0000761504" "0" "90" "6" "42689680" "42689680" "del" "0" "00000" "PRPH2_000267" "g.42689680del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PS4, PM1" "SUMMARY record" "" "rs769723975" "0" "" "" "g.42721942del" "" "pathogenic" "ACMG" "0000761505" "0" "70" "6" "42689684" "42689684" "subst" "0" "00000" "PRPH2_000141" "g.42689684A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2,PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic" "ACMG" "0000761506" "0" "90" "6" "42689688" "42689691" "dup" "0" "00000" "PRPH2_000146" "g.42689688_42689691dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42721950_42721953dup" "" "pathogenic" "ACMG" "0000761507" "0" "70" "6" "42689693" "42689693" "subst" "0.000357663" "00000" "PRPH2_000268" "g.42689693T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1" "SUMMARY record" "" "" "0" "" "" "g.42721955T>C" "" "likely pathogenic" "ACMG" "0000761508" "0" "70" "6" "42689696" "42689696" "subst" "0" "00000" "PRPH2_000106" "g.42689696A>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PP1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721958A>C" "" "likely pathogenic" "ACMG" "0000761509" "0" "70" "6" "42689696" "42689696" "subst" "0" "00000" "PRPH2_000077" "g.42689696A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM5, PP3, PP5" "SUMMARY record" "" "" "0" "" "" "g.42721958A>G" "" "likely pathogenic" "ACMG" "0000761510" "0" "70" "6" "42689699" "42689699" "subst" "4.06564E-6" "00000" "PRPH2_000094" "g.42689699G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721961G>A" "" "likely pathogenic" "ACMG" "0000761511" "0" "90" "6" "42689705" "42689705" "del" "0" "00000" "PRPH2_000269" "g.42689705del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42721967del" "" "pathogenic" "ACMG" "0000761512" "0" "70" "6" "42689706" "42689706" "subst" "0.000186995" "00000" "PRPH2_000040" "g.42689706G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3, PP5" "SUMMARY record" "" "rs563581127" "0" "" "" "g.42721968G>A" "" "likely pathogenic" "ACMG" "0000761513" "0" "70" "6" "42689720" "42689722" "del" "0" "00000" "PRPH2_000270" "g.42689720_42689722del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM1, PM2, PM4, PP1_moderate, PP3" "SUMMARY record" "" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic" "ACMG" "0000761514" "0" "50" "6" "42689727" "42689727" "subst" "4.06564E-6" "00000" "PRPH2_000066" "g.42689727C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42721989C>A" "" "VUS" "ACMG" "0000761515" "0" "70" "6" "42689756" "42689756" "del" "0" "00000" "PRPH2_000271" "g.42689756del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42722018del" "" "likely pathogenic" "ACMG" "0000761516" "0" "90" "6" "42689762" "42689765" "del" "0" "00000" "PRPH2_000125" "g.42689762_42689765del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42722024_42722027del" "" "pathogenic" "ACMG" "0000761517" "0" "50" "6" "42689770" "42689770" "subst" "0" "00000" "PRPH2_000272" "g.42689770G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, BS4, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42722032G>A" "" "VUS" "ACMG" "0000761518" "0" "70" "6" "42689770" "42689770" "subst" "0" "00000" "PRPH2_000078" "g.42689770G>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2" "SUMMARY record" "" "rs61755776" "0" "" "" "g.42722032G>C" "" "likely pathogenic" "ACMG" "0000761519" "0" "90" "6" "42689792" "42689792" "subst" "0" "00000" "PRPH2_000126" "g.42689792C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP1" "SUMMARY record" "" "" "0" "" "" "g.42722054C>T" "" "pathogenic" "ACMG" "0000761520" "0" "90" "6" "42689798" "42689798" "dup" "0" "00000" "PRPH2_000273" "g.42689798dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42722060dup" "" "pathogenic" "ACMG" "0000761521" "0" "70" "6" "42689802" "42689802" "subst" "0" "00000" "PRPH2_000142" "g.42689802A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP3, PP5" "SUMMARY record" "" "" "0" "" "" "g.42722064A>G" "" "likely pathogenic" "ACMG" "0000761522" "0" "70" "6" "42689802" "42689802" "subst" "6.49968E-5" "00000" "PRPH2_000274" "g.42689802A>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PP1, PP3, PP5" "SUMMARY record" "" "rs747893076" "0" "" "" "g.42722064A>T" "" "likely pathogenic" "ACMG" "0000761523" "0" "90" "6" "42689805" "42689808" "delins" "0" "00000" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP1" "SUMMARY record" "" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic" "ACMG" "0000761524" "0" "90" "6" "42689807" "42689814" "del" "0" "00000" "PRPH2_000111" "g.42689807_42689814del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP1" "SUMMARY record" "" "rs1554270834" "0" "" "" "g.42722069_42722076del" "" "pathogenic" "ACMG" "0000761525" "0" "50" "6" "42689820" "42689820" "subst" "2.43734E-5" "00000" "PRPH2_000276" "g.42689820C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, BP4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42722082C>T" "" "VUS" "ACMG" "0000761526" "0" "70" "6" "42689827" "42689827" "subst" "0" "00000" "PRPH2_000277" "g.42689827G>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42722089G>T" "" "likely pathogenic" "ACMG" "0000761527" "0" "90" "6" "42689840" "42689841" "ins" "0" "00000" "PRPH2_000278" "g.42689840_42689841insA" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PM6" "SUMMARY record" "" "" "0" "" "" "g.42722102_42722103insA" "" "pathogenic" "ACMG" "0000761528" "0" "90" "6" "42689864" "42689864" "dup" "0" "00000" "PRPH2_000279" "g.42689864dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42722126dup" "" "pathogenic" "ACMG" "0000761529" "0" "50" "6" "42689871" "42689875" "delins" "0" "00000" "PRPH2_000281" "g.42689871_42689875delinsTGTGTCTT" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PM4, PP3, BS4; contradictory ACMG categories" "SUMMARY record" "" "" "0" "" "" "g.42722133_42722137delinsTGTGTCTT" "" "VUS" "ACMG" "0000761530" "0" "70" "6" "42689871" "42689871" "subst" "0" "00000" "PRPH2_000280" "g.42689871C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM1, PP3" "SUMMARY record" "" "rs61755774" "0" "" "" "g.42722133C>G" "" "likely pathogenic" "ACMG" "0000761531" "0" "90" "6" "42689872" "42689872" "del" "0" "00000" "PRPH2_000282" "g.42689872del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP1" "SUMMARY record" "" "" "0" "" "" "g.42722134del" "" "pathogenic" "ACMG" "0000761532" "0" "50" "6" "42689873" "42689875" "del" "0" "00000" "PRPH2_000283" "g.42689873_42689875del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PM4, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs61755773" "0" "" "" "g.42722135_42722137del" "" "VUS" "ACMG" "0000761533" "0" "70" "6" "42689895" "42689895" "del" "0" "00000" "PRPH2_000127" "g.42689895del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42722157del" "" "likely pathogenic" "ACMG" "0000761534" "0" "90" "6" "42689911" "42689911" "del" "0" "00000" "PRPH2_000284" "g.42689911del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP1" "SUMMARY record" "" "rs62645886" "0" "" "" "g.42722173del" "" "pathogenic" "ACMG" "0000761535" "0" "50" "6" "42689925" "42689925" "subst" "0" "00000" "PRPH2_000112" "g.42689925C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP1, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42722187C>G" "" "VUS" "ACMG" "0000761536" "0" "90" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PS4" "SUMMARY record" "" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic" "ACMG" "0000761537" "0" "50" "6" "42689940" "42689940" "subst" "0.00100343" "00000" "PRPH2_000079" "g.42689940G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs61755770" "0" "" "" "g.42722202G>A" "" "VUS" "ACMG" "0000761538" "0" "50" "6" "42689951" "42689951" "subst" "0" "00000" "PRPH2_000285" "g.42689951A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42722213A>G" "" "VUS" "ACMG" "0000761539" "0" "50" "6" "42689957" "42689957" "subst" "0" "00000" "PRPH2_000286" "g.42689957A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42722219A>G" "" "VUS" "ACMG" "0000761540" "0" "70" "6" "42689961" "42689961" "subst" "0" "00000" "PRPH2_000287" "g.42689961C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2" "SUMMARY record" "" "" "0" "" "" "g.42722223C>A" "" "likely pathogenic" "ACMG" "0000761541" "0" "90" "6" "42689961" "42689961" "del" "0" "00000" "PRPH2_000288" "g.42689961del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM12,PP1" "SUMMARY record" "" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic" "ACMG" "0000761542" "0" "90" "6" "42689977" "42689977" "dup" "0" "00000" "PRPH2_000289" "g.42689977dup" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs61755768" "0" "" "" "g.42722239dup" "" "pathogenic" "ACMG" "0000761543" "0" "30" "6" "42689979" "42689979" "subst" "0.000893684" "00000" "PRPH2_000068" "g.42689979T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG BP4" "SUMMARY record" "" "rs61755767" "0" "" "" "g.42722241T>C" "" "likely benign" "ACMG" "0000761544" "0" "70" "6" "42689993" "42689993" "subst" "4.06279E-6" "00000" "PRPH2_000290" "g.42689993G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PP1, PP3" "SUMMARY record" "" "rs61755766" "0" "" "" "g.42722255G>A" "" "likely pathogenic" "ACMG" "0000761545" "0" "90" "6" "42689997" "42690000" "del" "0" "00000" "PRPH2_000291" "g.42689997_42690000del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP1" "SUMMARY record" "" "" "0" "" "" "g.42722259_42722262del" "" "pathogenic" "ACMG" "0000761546" "0" "50" "6" "42689998" "42689998" "subst" "6.09385E-5" "00000" "PRPH2_000292" "g.42689998C>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42722260C>G" "" "VUS" "ACMG" "0000761547" "0" "90" "6" "42689999" "42690000" "del" "0" "00000" "PRPH2_000293" "g.42689999_42690000del" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2" "SUMMARY record" "" "rs61755765" "0" "" "" "g.42722261_42722262del" "" "pathogenic" "ACMG" "0000761548" "0" "90" "6" "42690010" "42690010" "subst" "0" "00000" "PRPH2_000041" "g.42690010C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM2, PP1" "SUMMARY record" "" "" "0" "" "" "g.42722272C>T" "" "pathogenic" "ACMG" "0000761549" "0" "50" "6" "42690029" "42690029" "subst" "6.09558E-5" "00000" "PRPH2_000069" "g.42690029T>C" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42722291T>C" "" "VUS" "ACMG" "0000761550" "0" "70" "6" "42690035" "42690035" "subst" "8.12856E-6" "00000" "PRPH2_000294" "g.42690035C>T" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PS4, PM5, PP3" "SUMMARY record" "" "" "0" "" "" "g.42722297C>T" "" "likely pathogenic" "ACMG" "0000761551" "0" "50" "6" "42690036" "42690036" "subst" "0.000435044" "00000" "PRPH2_000070" "g.42690036G>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM5, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "rs61754402" "0" "" "" "g.42722298G>A" "" "VUS" "ACMG" "0000761552" "0" "50" "6" "42690069" "42690069" "subst" "0" "00000" "PRPH2_000147" "g.42690069C>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PM2, PP3; ACMG criteria not strong enough to label as pathogenic" "SUMMARY record" "" "" "0" "" "" "g.42722331C>A" "" "VUS" "ACMG" "0000761553" "0" "90" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PM5, PP5" "SUMMARY record" "" "rs121918565" "0" "" "" "g.42722333A>G" "" "pathogenic" "ACMG" "0000761554" "0" "90" "6" "42690072" "42690072" "subst" "0" "00000" "PRPH2_000295" "g.42690072T>A" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG PVS1, PM1, PM2, PP5," "SUMMARY record" "" "" "0" "" "" "g.42722334T>A" "" "pathogenic" "ACMG" "0000761555" "0" "10" "6" "42690083" "42690083" "subst" "0.00783621" "00000" "PRPH2_000042" "g.42690083T>G" "" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "ACMG BS1, BS4, BP4" "SUMMARY record" "" "rs114062933" "0" "" "" "g.42722345T>G" "" "benign" "ACMG" "0000761556" "0" "51" "6" "42690083" "42690083" "subst" "0.00783621" "04036" "PRPH2_000042" "g.42690083T>G" "1/15" "{PMID:Boon 2007:17698758}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "" "Germline" "" "rs114062933" "0" "" "" "g.42722345T>G" "" "VUS" "" "0000761557" "0" "99" "6" "42689491" "42690353" "del" "0" "04036" "PRPH2_000152" "g.(42672350_42689491)_(42690353_?)del" "1/96" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.1-?_581+?del" "" "Germline" "yes" "" "0" "" "" "g.(42704612_42721753)_(42722615_?)del" "" "pathogenic (dominant)" "" "0000761558" "0" "99" "6" "42689491" "42690353" "del" "0" "04036" "PRPH2_000152" "g.(42672350_42689491)_(42690353_?)del" "1/96" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.1-?_581+?del" "" "Germline" "yes" "" "0" "" "" "g.(42704612_42721753)_(42722615_?)del" "" "pathogenic (dominant)" "" "0000761559" "0" "99" "6" "42690072" "42690072" "subst" "0" "04036" "PRPH2_000295" "g.42690072T>A" "1/82" "{PMID:Zhao 2015:25472526}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Met1Leu" "" "Unknown" "" "" "0" "" "" "g.42722334T>A" "" "pathogenic (dominant)" "" "0000761560" "0" "99" "6" "42690071" "42690071" "subst" "0" "04036" "PRPH2_000128" "g.42690071A>G" "1/28" "{PMID:Felbor 1997:9338584}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-NlaIII" "c.2T>C; p.Met1?" "" "Unknown" "" "rs121918565" "0" "" "" "g.42722333A>G" "" "pathogenic (dominant)" "" "0000761561" "0" "79" "6" "42690071" "42690071" "subst" "0" "04036" "PRPH2_000128" "g.42690071A>G" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-NlaIII" "c.2T>C; p.M1T" "" "Unknown" "" "rs121918565" "0" "" "" "g.42722333A>G" "" "likely pathogenic (dominant)" "" "0000761562" "0" "95" "6" "42690036" "42690036" "subst" "0.000435044" "04036" "PRPH2_000070" "g.42690036G>A" "1/88" "{PMID:Zaneveld 2015:25474345}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "c.37C>T; p.(R13W)" "" "Unknown" "" "rs61754402" "0" "" "" "g.42722298G>A" "" "pathogenic (dominant)" "" "0000761563" "0" "77" "6" "42690035" "42690035" "subst" "8.12856E-6" "04036" "PRPH2_000294" "g.42690035C>T" "1/298" "{PMID:Sun 2015:26747767}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.38G>A; p.Arg13Gln" "" "Germline" "" "" "0" "" "" "g.42722297C>T" "" "likely pathogenic (dominant)" "" "0000761564" "0" "55" "6" "42690029" "42690029" "subst" "6.09558E-5" "04036" "PRPH2_000069" "g.42690029T>C" "1/349" "{PMID:Arai 2015:26161267}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.44A>G; p.K15R" "" "Germline" "" "" "0" "" "" "g.42722291T>C" "" "VUS" "" "0000761565" "0" "99" "6" "42690010" "42690010" "subst" "0" "04036" "PRPH2_000041" "g.42690010C>T" "2/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.63G>A; p.W21X" "" "Germline" "yes" "" "0" "" "" "g.42722272C>T" "" "pathogenic (dominant)" "" "0000761566" "0" "99" "6" "42690010" "42690010" "subst" "0" "04036" "PRPH2_000041" "g.42690010C>T" "2/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.63G>A; p.W21X" "" "Germline" "yes" "" "0" "" "" "g.42722272C>T" "" "pathogenic (dominant)" "" "0000761567" "0" "99" "6" "42690010" "42690010" "subst" "0" "04036" "PRPH2_000041" "g.42690010C>T" "3/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42690010C>T; p.(Trp21*)" "" "Germline" "" "" "0" "" "" "g.42722272C>T" "" "pathogenic (dominant)" "" "0000761568" "0" "99" "6" "42690010" "42690010" "subst" "0" "04036" "PRPH2_000041" "g.42690010C>T" "3/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42690010C>T; p.(Trp21*)" "" "Germline" "" "" "0" "" "" "g.42722272C>T" "" "pathogenic (dominant)" "" "0000761569" "0" "99" "6" "42690010" "42690010" "subst" "0" "04036" "PRPH2_000041" "g.42690010C>T" "3/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42690010C>T; p.(Trp21*)" "" "Germline" "yes" "" "0" "" "" "g.42722272C>T" "" "pathogenic (dominant)" "" "0000761570" "0" "99" "6" "42690010" "42690010" "subst" "0" "04036" "PRPH2_000041" "g.42690010C>T" "3/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42690010C>T; p.(Trp21*)" "" "Germline" "yes" "" "0" "" "" "g.42722272C>T" "" "pathogenic (dominant)" "" "0000761571" "20" "79" "6" "42689999" "42690000" "del" "0" "04036" "PRPH2_000293" "g.42689999_42690000del" "2/6" "{PMID:Kajiwara 1993:8485575}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII" "2-bp deletion codon 25" "" "Germline" "yes" "rs61755765" "0" "" "" "g.42722261_42722262del" "" "likely pathogenic (dominant)" "" "0000761572" "11" "79" "6" "42689999" "42690000" "del" "0" "04036" "PRPH2_000293" "g.42689999_42690000del" "2/6" "{PMID:Kajiwara 1993:8485575}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII" "2-bp deletion codon 25" "" "Germline" "yes" "rs61755765" "0" "" "" "g.42722261_42722262del" "" "likely pathogenic (dominant)" "" "0000761573" "0" "79" "6" "42689997" "42690000" "del" "0" "04036" "PRPH2_000291" "g.42689997_42690000del" "1/3" "{PMID:Maertz 2015:25803555}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.74_77delGGTT, p.W25SfsX12" "" "Germline" "yes" "" "0" "" "" "g.42722259_42722262del" "" "likely pathogenic (dominant)" "" "0000761574" "0" "77" "6" "42672105" "42672105" "subst" "0" "04036" "PRPH2_000179" "g.42672105C>A" "1/9" "{PMID:Strom 2012:22863181}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Q276*" "" "Unknown" "" "" "0" "" "" "g.42704367C>A" "" "likely pathogenic" "" "0000761575" "0" "55" "6" "42689998" "42689998" "subst" "6.09385E-5" "04036" "PRPH2_000292" "g.42689998C>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.75G>C; p.Trp25Cys" "" "Unknown" "" "" "0" "" "" "g.42722260C>G" "" "VUS" "" "0000761576" "11" "77" "6" "42689993" "42689993" "subst" "4.06279E-6" "04036" "PRPH2_000290" "g.42689993G>A" "3/7" "{PMID:Fishman 1997:9052636}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T transition in the second nucleotide of codon 27; p.Phe27Ser" "" "Germline" "yes" "rs61755766" "0" "" "" "g.42722255G>A" "" "likely pathogenic (dominant)" "" "0000761577" "0" "77" "6" "42689993" "42689993" "subst" "4.06279E-6" "04036" "PRPH2_000290" "g.42689993G>A" "3/7" "{PMID:Fishman 1997:9052636}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T transition in the second nucleotide of codon 27; p.Phe27Ser" "" "Germline" "yes" "rs61755766" "0" "" "" "g.42722255G>A" "" "likely pathogenic (dominant)" "" "0000761578" "11" "77" "6" "42689993" "42689993" "subst" "4.06279E-6" "04036" "PRPH2_000290" "g.42689993G>A" "3/7" "{PMID:Fishman 1997:9052636}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T transition in the second nucleotide of codon 27; p.Phe27Ser" "" "Germline" "yes" "rs61755766" "0" "" "" "g.42722255G>A" "" "likely pathogenic (dominant)" "" "0000761579" "0" "53" "6" "42689979" "42689979" "subst" "0.000893684" "04036" "PRPH2_000068" "g.42689979T>C" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-SfaNI" "c.94A>G; p.Ile32Val" "" "Unknown" "" "rs61755767" "0" "" "" "g.42722241T>C" "" "VUS" "" "0000761580" "0" "53" "6" "42689979" "42689979" "subst" "0.000893684" "04036" "PRPH2_000068" "g.42689979T>C" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-SfaNI" "c.94A>G; p.Ile32Val" "" "Unknown" "" "rs61755767" "0" "" "" "g.42722241T>C" "" "VUS" "" "0000761581" "0" "13" "6" "42689979" "42689979" "subst" "0.000893684" "04036" "PRPH2_000068" "g.42689979T>C" "1/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-SfaNI" "c.A94G; p.I32V" "" "Unknown" "" "rs61755767" "0" "" "" "g.42722241T>C" "" "benign" "" "0000761582" "3" "53" "6" "42689979" "42689979" "subst" "0.000893684" "04036" "PRPH2_000068" "g.42689979T>C" "4/4" "{PMID:Daftarian 2019:31618092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-SfaNI" "c.94A>G; p.Ile32Val" "" "Germline" "yes" "rs61755767" "0" "" "" "g.42722241T>C" "" "VUS" "" "0000761583" "10" "53" "6" "42689979" "42689979" "subst" "0.000893684" "04036" "PRPH2_000068" "g.42689979T>C" "4/4" "{PMID:Daftarian 2019:31618092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-SfaNI" "c.94A>G; p.Ile32Val" "" "Germline" "yes" "rs61755767" "0" "" "" "g.42722241T>C" "" "VUS" "" "0000761584" "20" "53" "6" "42689979" "42689979" "subst" "0.000893684" "04036" "PRPH2_000068" "g.42689979T>C" "4/4" "{PMID:Daftarian 2019:31618092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-SfaNI" "c.94A>G; p.Ile32Val" "" "Germline" "yes" "rs61755767" "0" "" "" "g.42722241T>C" "" "VUS" "" "0000761585" "0" "53" "6" "42689979" "42689979" "subst" "0.000893684" "04036" "PRPH2_000068" "g.42689979T>C" "4/4" "{PMID:Daftarian 2019:31618092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-SfaNI" "c.94A>G; p.Ile32Val" "" "Germline" "yes" "rs61755767" "0" "" "" "g.42722241T>C" "" "VUS" "" "0000761586" "0" "73" "6" "42689979" "42689979" "subst" "0.000893684" "04036" "PRPH2_000068" "g.42689979T>C" "1/28" "{PMID:Barbazetto 2007:18161617}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-SfaNI" "c.94A>G; p.Ile32Val" "" "Unknown" "" "rs61755767" "0" "" "" "g.42722241T>C" "" "likely pathogenic (dominant)" "" "0000761587" "10" "79" "6" "42689977" "42689977" "dup" "0" "04036" "PRPH2_000289" "g.42689977dup" "3/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "1-bp insertion at codon 32" "" "Germline" "yes" "rs61755768" "0" "" "" "g.42722239dup" "" "likely pathogenic (dominant)" "" "0000761588" "10" "79" "6" "42689977" "42689977" "dup" "0" "04036" "PRPH2_000289" "g.42689977dup" "3/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "1-bp insertion at codon 32" "" "Germline" "yes" "rs61755768" "0" "" "" "g.42722239dup" "" "likely pathogenic (dominant)" "" "0000761589" "11" "79" "6" "42689977" "42689977" "dup" "0" "04036" "PRPH2_000289" "g.42689977dup" "3/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "1-bp insertion at codon 32" "" "Germline" "yes" "rs61755768" "0" "" "" "g.42722239dup" "" "likely pathogenic (dominant)" "" "0000761590" "0" "99" "6" "42689977" "42689977" "dup" "0" "04036" "PRPH2_000289" "g.42689977dup" "1/3 cases" "{PMID:Palma 2019:30726412}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.96dupC; p.Ile33Hisfs*12" "" "Germline" "yes" "rs61755768" "0" "" "" "g.42722239dup" "" "pathogenic (dominant)" "" "0000761591" "0" "77" "6" "42689961" "42689961" "subst" "0" "04036" "PRPH2_000287" "g.42689961C>A" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.112G>T; p.G38*" "" "Germline" "" "" "0" "" "" "g.42722223C>A" "" "likely pathogenic (dominant)" "" "0000761592" "0" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.113delG; p.Gly38Aspfs*4" "" "Unknown" "" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761593" "0" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "2/3" "{PMID:Moshfeghi 2006:17249552}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at position 112" "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761594" "20" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "2/3" "{PMID:Moshfeghi 2006:17249552}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at position 112" "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761595" "11" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "8/12" "{PMID:Yang 2003:12566026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38." "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761596" "11" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "8/12" "{PMID:Yang 2003:12566026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38." "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761597" "11" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "8/12" "{PMID:Yang 2003:12566026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38." "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761598" "11" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "8/12" "{PMID:Yang 2003:12566026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38." "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761599" "21" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "8/12" "{PMID:Yang 2003:12566026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38." "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761600" "11" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "8/12" "{PMID:Yang 2003:12566026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38." "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761601" "21" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "8/12" "{PMID:Yang 2003:12566026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38." "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761602" "21" "99" "6" "42689961" "42689961" "del" "0" "04036" "PRPH2_000288" "g.42689961del" "8/12" "{PMID:Yang 2003:12566026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Guanine deletion at nucleotide position 112 leading to a premature termination of the gene product at amino acid 38." "" "Germline" "yes" "rs61755769" "0" "" "" "g.42722223del" "" "pathogenic (dominant)" "" "0000761603" "0" "75" "6" "42689957" "42689957" "subst" "0" "04036" "PRPH2_000286" "g.42689957A>G" "1/23" "{PMID:Schorderet 2013:23484092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.PRPH2-L39P" "" "Germline" "" "" "0" "" "" "g.42722219A>G" "" "likely pathogenic (dominant)" "" "0000761604" "0" "55" "6" "42689951" "42689951" "subst" "0" "04036" "PRPH2_000285" "g.42689951A>G" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689951A>G; p.(Leu41Pro)" "" "Germline" "" "" "0" "" "" "g.42722213A>G" "" "VUS" "" "0000761605" "0" "75" "6" "42689940" "42689940" "subst" "0.00100343" "04036" "PRPH2_000079" "g.42689940G>A" "1/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+ApoI" "p.L45F (c133C>T)" "" "De novo" "" "rs61755770" "0" "" "" "g.42722202G>A" "" "likely pathogenic (dominant)" "" "0000761606" "0" "55" "6" "42689940" "42689940" "subst" "0.00100343" "04036" "PRPH2_000079" "g.42689940G>A" "" "{PMID:Abouelhoda 2016:27884173}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+ApoI" "Chr.6: 42666061:C > 42666061:T" "" "Germline" "" "rs61755770" "0" "" "" "g.42722202G>A" "" "VUS" "" "0000761607" "0" "55" "6" "42689940" "42689940" "subst" "0.00100343" "04036" "PRPH2_000079" "g.42689940G>A" "1/23" "{PMID:Sallevelt 2017:28492530}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+ApoI" "c133C>T; p.Leu45Phe" "" "Germline" "" "rs61755770" "0" "" "" "g.42722202G>A" "" "VUS" "" "0000761608" "0" "55" "6" "42689940" "42689940" "subst" "0.00100343" "04036" "PRPH2_000079" "g.42689940G>A" "1/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+ApoI" "C133T; L45F" "" "Germline" "" "rs61755770" "0" "" "" "g.42722202G>A" "" "VUS" "" "0000761609" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.R46*" "" "Germline" "" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761610" "0" "59" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "1/160" "{PMID:Meins 1993:8111389}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition at codon 46 (CGA—TGA)" "" "Germline" "" "rs61755771" "0" "" "" "g.42722199G>A" "" "VUS" "" "0000761611" "0" "79" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Lam 1995:7825692}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition in the first nucleotide of codon 46" "" "De novo" "no" "rs61755771" "0" "" "" "g.42722199G>A" "" "likely pathogenic (dominant)" "" "0000761612" "10" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "2/7" "{PMID:Apfelstedt-Sylla 1995:7880786}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition (CGA for TGA) at codon 46" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761613" "11" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "2/7" "{PMID:Apfelstedt-Sylla 1995:7880786}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition (CGA for TGA) at codon 46" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761614" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "2/5" "{PMID:Schatz 2003:14510799}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761615" "11" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "2/5" "{PMID:Schatz 2003:14510799}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761616" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "4/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.A46X (c.136C>T)" "" "Germline" "no" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761617" "10" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "4/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.A46X (c.136C>T)" "" "Germline" "no" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761618" "10" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "4/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.A46X (c.136C>T)" "" "Germline" "no" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761619" "10" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "4/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.A46X (c.136C>T)" "" "Germline" "no" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761620" "3" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Abu-Safieh 2013:23105016}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.(Arg46*)" "" "Germline" "" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic" "" "0000761621" "10" "79" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "likely pathogenic (dominant)" "" "0000761622" "21" "79" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "likely pathogenic (dominant)" "" "0000761623" "21" "79" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "likely pathogenic (dominant)" "" "0000761624" "20" "79" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "likely pathogenic (dominant)" "" "0000761625" "20" "79" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "likely pathogenic (dominant)" "" "0000761626" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "2/63" "{PMID:Consugar 2015:25412400}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.(Arg46*)" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761627" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "2/63" "{PMID:Consugar 2015:25412400}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.(Arg46*)" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761628" "3" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "2/7" "{PMID:Khan 2016:26061163}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic" "" "0000761629" "3" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "2/7" "{PMID:Khan 2016:26061163}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic" "" "0000761630" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "4/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg46Ter" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761631" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "4/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg46Ter" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761632" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "4/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg46Ter" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761633" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "4/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg46Ter" "" "Germline" "" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761634" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Unknown" "" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761635" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761636" "0" "99" "6" "42689937" "42689937" "subst" "1.62499E-5" "04036" "PRPH2_000067" "g.42689937G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.136C>T; p.Arg46*" "" "Germline" "yes" "rs61755771" "0" "" "" "g.42722199G>A" "" "pathogenic (dominant)" "" "0000761637" "21" "55" "6" "42689925" "42689925" "subst" "0" "04036" "PRPH2_000112" "g.42689925C>G" "4/12" "{PMID:Xiang 2012:22567862}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "D50H" "" "Germline" "yes" "" "0" "" "" "g.42722187C>G" "" "VUS" "" "0000761638" "21" "55" "6" "42689925" "42689925" "subst" "0" "04036" "PRPH2_000112" "g.42689925C>G" "4/12" "{PMID:Xiang 2012:22567862}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "D50H" "" "Germline" "yes" "" "0" "" "" "g.42722187C>G" "" "VUS" "" "0000761639" "21" "55" "6" "42689925" "42689925" "subst" "0" "04036" "PRPH2_000112" "g.42689925C>G" "4/12" "{PMID:Xiang 2012:22567862}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "D50H" "" "Germline" "yes" "" "0" "" "" "g.42722187C>G" "" "VUS" "" "0000761640" "21" "55" "6" "42689925" "42689925" "subst" "0" "04036" "PRPH2_000112" "g.42689925C>G" "4/12" "{PMID:Xiang 2012:22567862}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "D50H" "" "Germline" "yes" "" "0" "" "" "g.42722187C>G" "" "VUS" "" "0000761641" "0" "99" "6" "42689911" "42689911" "del" "0" "04036" "PRPH2_000284" "g.42689911del" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.163delT; p.Ser55Leufs*10" "" "Unknown" "" "rs62645886" "0" "" "" "g.42722173del" "" "pathogenic (dominant)" "" "0000761642" "0" "99" "6" "42689911" "42689911" "del" "0" "04036" "PRPH2_000284" "g.42689911del" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.163delT; p.Ser55Leufs*10" "" "Unknown" "" "rs62645886" "0" "" "" "g.42722173del" "" "pathogenic (dominant)" "" "0000761643" "0" "59" "6" "42689911" "42689911" "del" "0" "04036" "PRPH2_000284" "g.42689911del" "2/39" "{PMID:Duncker 2015:26024099}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.163delT; p.S55Lfs*10" "" "Unknown" "" "rs62645886" "0" "" "" "g.42722173del" "" "VUS" "" "0000761644" "0" "59" "6" "42689911" "42689911" "del" "0" "04036" "PRPH2_000284" "g.42689911del" "2/39" "{PMID:Duncker 2015:26024099}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.163delT; p.S55Lfs*10" "" "Unknown" "" "rs62645886" "0" "" "" "g.42722173del" "" "VUS" "" "0000761645" "0" "99" "6" "42689911" "42689911" "del" "0" "04036" "PRPH2_000284" "g.42689911del" "4/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.163delT; p.Asn54fsX9" "" "Germline" "yes" "rs62645886" "0" "" "" "g.42722173del" "" "pathogenic (dominant)" "" "0000761646" "0" "99" "6" "42689911" "42689911" "del" "0" "04036" "PRPH2_000284" "g.42689911del" "4/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.163delT; p.Asn54fsX9" "" "Germline" "yes" "rs62645886" "0" "" "" "g.42722173del" "" "pathogenic (dominant)" "" "0000761647" "21" "99" "6" "42689911" "42689911" "del" "0" "04036" "PRPH2_000284" "g.42689911del" "4/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.163delT; p.Asn54fsX9" "" "Germline" "yes" "rs62645886" "0" "" "" "g.42722173del" "" "pathogenic (dominant)" "" "0000761648" "21" "99" "6" "42689911" "42689911" "del" "0" "04036" "PRPH2_000284" "g.42689911del" "4/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.163delT; p.Asn54fsX9" "" "Germline" "yes" "rs62645886" "0" "" "" "g.42722173del" "" "pathogenic (dominant)" "" "0000761649" "0" "55" "6" "42689873" "42689875" "del" "0" "04036" "PRPH2_000283" "g.42689873_42689875del" "" "{PMID:Jacobson 1994:NO PUMBED ID}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "?" "" "Unknown" "" "rs61755773" "0" "" "" "g.42722135_42722137del" "" "VUS" "" "0000761650" "20" "75" "6" "42689871" "42689875" "delins" "0" "04036" "PRPH2_000281" "g.42689871_42689875delinsTGTGTCTT" "4/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.67-69 del/ins" "" "Germline" "yes" "" "0" "" "" "g.42722133_42722137delinsTGTGTCTT" "" "likely pathogenic (dominant)" "" "0000761651" "21" "75" "6" "42689871" "42689875" "delins" "0" "04036" "PRPH2_000281" "g.42689871_42689875delinsTGTGTCTT" "4/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.67-69 del/ins" "" "Germline" "yes" "" "0" "" "" "g.42722133_42722137delinsTGTGTCTT" "" "likely pathogenic (dominant)" "" "0000761652" "20" "75" "6" "42689871" "42689875" "delins" "0" "04036" "PRPH2_000281" "g.42689871_42689875delinsTGTGTCTT" "4/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.67-69 del/ins" "" "Germline" "yes" "" "0" "" "" "g.42722133_42722137delinsTGTGTCTT" "" "likely pathogenic (dominant)" "" "0000761653" "21" "75" "6" "42689871" "42689875" "delins" "0" "04036" "PRPH2_000281" "g.42689871_42689875delinsTGTGTCTT" "4/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.67-69 del/ins" "" "Germline" "yes" "" "0" "" "" "g.42722133_42722137delinsTGTGTCTT" "" "likely pathogenic (dominant)" "" "0000761654" "0" "57" "6" "42689871" "42689871" "subst" "0" "04036" "PRPH2_000280" "g.42689871C>G" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly68Arg" "" "Germline" "yes" "rs61755774" "0" "" "" "g.42722133C>G" "" "VUS" "" "0000761655" "0" "57" "6" "42689871" "42689871" "subst" "0" "04036" "PRPH2_000280" "g.42689871C>G" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly68Arg" "" "Germline" "yes" "rs61755774" "0" "" "" "g.42722133C>G" "" "VUS" "" "0000761656" "21" "57" "6" "42689871" "42689871" "subst" "0" "04036" "PRPH2_000280" "g.42689871C>G" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly68Arg" "" "Germline" "yes" "rs61755774" "0" "" "" "g.42722133C>G" "" "VUS" "" "0000761657" "0" "77" "6" "42689871" "42689871" "subst" "0" "04036" "PRPH2_000280" "g.42689871C>G" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.G68R" "" "Germline" "yes" "rs61755774" "0" "" "" "g.42722133C>G" "" "likely pathogenic (dominant)" "" "0000761658" "10" "59" "6" "42689872" "42689872" "del" "0" "04036" "PRPH2_000282" "g.42689872del" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.205delG; p.Val69Cysfs*30" "" "Germline" "yes" "" "0" "" "" "g.42722134del" "" "VUS" "" "0000761659" "0" "99" "6" "42689864" "42689864" "dup" "0" "04036" "PRPH2_000279" "g.42689864dup" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.209dup / p.S71Ifs*106" "" "Unknown" "" "" "0" "" "" "g.42722126dup" "" "pathogenic (dominant)" "" "0000761660" "0" "99" "6" "42689840" "42689841" "ins" "0" "04036" "PRPH2_000278" "g.42689840_42689841insA" "1/76" "{PMID:Lim 2009:19506198}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.232GC;c.232_233insT; p.Ala78LeufsX99" "" "Unknown" "" "" "0" "" "" "g.42722102_42722103insA" "" "pathogenic (dominant)" "" "0000761661" "0" "77" "6" "42689827" "42689827" "subst" "0" "04036" "PRPH2_000277" "g.42689827G>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.246C>A; p.Cys82*" "" "Unknown" "" "" "0" "" "" "g.42722089G>T" "" "likely pathogenic (dominant)" "" "0000761662" "0" "97" "6" "42689827" "42689827" "subst" "0" "04036" "PRPH2_000277" "g.42689827G>T" "1/79" "{PMID:Wolock 2019:30926958} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.246C>A; p.Cys82X" "" "Unknown" "" "" "0" "" "" "g.42722089G>T" "" "pathogenic (dominant)" "" "0000761663" "0" "55" "6" "42689820" "42689820" "subst" "2.43734E-5" "04036" "PRPH2_000276" "g.42689820C>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689820C>T; p.(Ala85Thr)" "" "Unknown" "" "" "0" "" "" "g.42722082C>T" "" "VUS" "" "0000761664" "0" "99" "6" "42689807" "42689814" "del" "0" "04036" "PRPH2_000111" "g.42689807_42689814del" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.259_266del8, p.D87fs" "" "Unknown" "" "rs1554270834" "0" "" "" "g.42722069_42722076del" "" "pathogenic (dominant)" "" "0000761665" "0" "99" "6" "42689807" "42689814" "del" "0" "04036" "PRPH2_000111" "g.42689807_42689814del" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.259_266del8, p.D87fs" "" "Unknown" "" "rs1554270834" "0" "" "" "g.42722069_42722076del" "" "pathogenic (dominant)" "" "0000761666" "21" "59" "6" "42689807" "42689814" "del" "0" "04036" "PRPH2_000111" "g.42689807_42689814del" "" "{PMID:Ba-Abbad 2014:24608669}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.259_266del8, p.D87fs" "" "Germline" "yes" "rs1554270834" "0" "" "" "g.42722069_42722076del" "" "VUS" "" "0000761667" "0" "59" "6" "42689807" "42689814" "del" "0" "04036" "PRPH2_000111" "g.42689807_42689814del" "" "{PMID:Ba-Abbed 2014:24608669}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.259_266del8, p.D87fs" "" "Germline" "yes" "rs1554270834" "0" "" "" "g.42722069_42722076del" "" "VUS" "" "0000761668" "0" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761669" "0" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761670" "10" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761671" "10" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761672" "10" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761673" "10" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761674" "10" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761675" "10" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761676" "10" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761677" "20" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761678" "20" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761679" "11" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761680" "11" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761681" "21" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761682" "21" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761683" "21" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761684" "11" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761685" "21" "99" "6" "42689805" "42689808" "delins" "0" "04036" "PRPH2_000275" "g.42689805_42689808delinsGGCCCT" "18/59" "{PMID:Pajic 2006:17031298}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "HaeIII+" "del265-268GCCA ins AGGGCC" "" "Germline" "yes" "" "0" "" "" "g.42722067_42722070delinsGGCCCT" "" "pathogenic (dominant)" "" "0000761686" "0" "77" "6" "42689802" "42689802" "subst" "6.49968E-5" "04036" "PRPH2_000274" "g.42689802A>T" "2/39" "{PMID:Duncker 2015:26024099}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Y91N" "" "Germline" "yes" "rs747893076" "0" "" "" "g.42722064A>T" "" "likely pathogenic (dominant)" "" "0000761687" "0" "77" "6" "42689802" "42689802" "subst" "6.49968E-5" "04036" "PRPH2_000274" "g.42689802A>T" "2/39" "{PMID:Duncker 2015:26024099}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Y91N" "" "Germline" "yes" "rs747893076" "0" "" "" "g.42722064A>T" "" "likely pathogenic (dominant)" "" "0000761688" "0" "57" "6" "42689802" "42689802" "subst" "6.49968E-5" "04036" "PRPH2_000274" "g.42689802A>T" "" "{PMID:Alapati 2014:25082885}, {PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.271T>A; p.Tyr91Asn (Alapati) / c.271T>A;p.Tyr91Asn (Reeves)" "" "Unknown" "" "rs747893076" "0" "" "" "g.42722064A>T" "" "VUS" "" "0000761689" "0" "57" "6" "42689802" "42689802" "subst" "6.49968E-5" "04036" "PRPH2_000274" "g.42689802A>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.271T>A;p.Tyr91Asn" "" "Unknown" "" "rs747893076" "0" "" "" "g.42722064A>T" "" "VUS" "" "0000761690" "0" "79" "6" "42689798" "42689798" "dup" "0" "04036" "PRPH2_000273" "g.42689798dup" "1/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.276dup p.(Arg93Glnfs*84)" "" "Unknown" "" "" "0" "" "" "g.42722060dup" "" "likely pathogenic (dominant)" "" "0000761691" "0" "79" "6" "42689792" "42689792" "subst" "0" "04036" "PRPH2_000126" "g.42689792C>T" "3/8" "{PMID:Leroy 2007:16916875} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.281G>A change (p.Trp94X)" "" "Germline" "yes" "" "0" "" "" "g.42722054C>T" "" "likely pathogenic (dominant)" "" "0000761692" "21" "79" "6" "42689792" "42689792" "subst" "0" "04036" "PRPH2_000126" "g.42689792C>T" "3/8" "{PMID:Leroy 2007:16916875} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.281G>A change (p.Trp94X)" "" "Germline" "yes" "" "0" "" "" "g.42722054C>T" "" "likely pathogenic (dominant)" "" "0000761693" "21" "79" "6" "42689792" "42689792" "subst" "0" "04036" "PRPH2_000126" "g.42689792C>T" "3/8" "{PMID:Leroy 2007:16916875} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.281G>A change (p.Trp94X)" "" "Germline" "yes" "" "0" "" "" "g.42722054C>T" "" "likely pathogenic (dominant)" "" "0000761694" "0" "79" "6" "42689792" "42689792" "subst" "0" "04036" "PRPH2_000126" "g.42689792C>T" "2/44" "{PMID:Meunier 2011:21269699}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.W94X" "" "Unknown" "" "" "0" "" "" "g.42722054C>T" "" "likely pathogenic (dominant)" "" "0000761695" "0" "79" "6" "42689792" "42689792" "subst" "0" "04036" "PRPH2_000126" "g.42689792C>T" "2/44" "{PMID:Meunier 2011:21269699}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.W94X" "" "Unknown" "" "" "0" "" "" "g.42722054C>T" "" "likely pathogenic (dominant)" "" "0000761696" "0" "99" "6" "42689792" "42689792" "subst" "0" "04036" "PRPH2_000126" "g.42689792C>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.281G>A ; p.W94*" "" "Unknown" "" "" "0" "" "" "g.42722054C>T" "" "pathogenic (dominant)" "" "0000761697" "0" "77" "6" "42689770" "42689770" "subst" "0" "04036" "PRPH2_000078" "g.42689770G>C" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689770G>C; p.(Tyr101*)" "" "Germline" "" "rs61755776" "0" "" "" "g.42722032G>C" "" "likely pathogenic (dominant)" "" "0000761698" "0" "97" "6" "42689770" "42689770" "subst" "0" "04036" "PRPH2_000078" "g.42689770G>C" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.303C>G; p.Tyr101*" "" "Unknown" "" "rs61755776" "0" "" "" "g.42722032G>C" "" "pathogenic (dominant)" "" "0000761699" "0" "15" "6" "42689770" "42689770" "subst" "0" "04036" "PRPH2_000272" "g.42689770G>A" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Tyr10lTyr" "" "Unknown" "" "" "0" "" "" "g.42722032G>A" "" "VUS" "" "0000761700" "0" "99" "6" "42689762" "42689765" "del" "0" "04036" "PRPH2_000125" "g.42689762_42689765del" "" "{PMID:Alpati 2014:25082885}, {PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.310-313del(AT); p.Ile104Val (Alapati) / c.310_313del; p.Ile104Valfs*34 (Reeves)" "" "Unknown" "no" "" "0" "" "" "g.42722024_42722027del" "" "pathogenic" "" "0000761701" "0" "99" "6" "42689762" "42689765" "del" "0" "04036" "PRPH2_000125" "g.42689762_42689765del" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.310_313del; p.Ile104Valfs*34" "" "Unknown" "" "" "0" "" "" "g.42722024_42722027del" "" "pathogenic" "" "0000761702" "0" "77" "6" "42689756" "42689756" "del" "0" "04036" "PRPH2_000271" "g.42689756del" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.318delT; p.Leu107Serfs*32" "" "Unknown" "" "" "0" "" "" "g.42722018del" "" "likely pathogenic (dominant)" "" "0000761703" "0" "55" "6" "42689727" "42689727" "subst" "4.06564E-6" "04036" "PRPH2_000066" "g.42689727C>A" "1/349" "{PMID:Arai 2015:26161267}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.346G>T; p.A116S" "" "Unknown" "" "" "0" "" "" "g.42721989C>A" "" "VUS" "" "0000761704" "20" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/58 cases" "{PMID:Wells;1993:8485576}, {PMID:Wroblewski 1994:7848979}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "cysteine deletion at codon 118//119 (Wells); cysteine 118/119 deletion (Wroblewski )" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761705" "10" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/58 cases" "{PMID:Wells;1993:8485576}, {PMID:Wroblewski 1994:7848979}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "cysteine deletion at codon 118//119 (Wells); cysteine 118/119 deletion (Wroblewski )" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761706" "21" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/58 cases" "{PMID:Wells;1993:8485576}, {PMID:Wroblewski 1994:7848979}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "cysteine deletion at codon 118//119 (Wells); cysteine 118/119 deletion (Wroblewski )" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761707" "21" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/58 cases" "{PMID:Wells;1993:8485576}, {PMID:Wroblewski 1994:7848979}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "cysteine deletion at codon 118//119 (Wells); cysteine 118/119 deletion (Wroblewski )" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761708" "21" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/58 cases" "{PMID:Wells;1993:8485576}, {PMID:Wroblewski 1994:7848979}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "cysteine deletion at codon 118//119 (Wells); cysteine 118/119 deletion (Wroblewski )" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761709" "10" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761710" "0" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761711" "21" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761712" "10" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761713" "10" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761714" "21" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761715" "21" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761716" "21" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761717" "21" "77" "6" "42689720" "42689722" "del" "0" "04036" "PRPH2_000270" "g.42689720_42689722del" "1/60 cases" "{PMID:Farrar 1991:1749427}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion at codon 118/119" "" "Germline" "yes" "" "0" "" "" "g.42721982_42721984del" "" "likely pathogenic (dominant)" "" "0000761718" "0" "77" "6" "42689706" "42689706" "subst" "0.000186995" "04036" "PRPH2_000040" "g.42689706G>A" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.367CT; p.Arg123Trp" "" "Germline" "yes" "rs563581127" "0" "" "" "g.42721968G>A" "" "likely pathogenic (dominant)" "" "0000761719" "0" "77" "6" "42689706" "42689706" "subst" "0.000186995" "04036" "PRPH2_000040" "g.42689706G>A" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.367CT; p.Arg123Trp" "" "Germline" "yes" "rs563581127" "0" "" "" "g.42721968G>A" "" "likely pathogenic (dominant)" "" "0000761720" "0" "77" "6" "42689706" "42689706" "subst" "0.000186995" "04036" "PRPH2_000040" "g.42689706G>A" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689706G>A; p.(Arg123Trp)" "" "Germline" "" "rs563581127" "0" "" "" "g.42721968G>A" "" "likely pathogenic (dominant)" "" "0000761721" "0" "79" "6" "42689705" "42689705" "del" "0" "04036" "PRPH2_000269" "g.42689705del" "1/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.368delG; p.Gly124AlafsX14" "" "Unknown" "" "" "0" "" "" "g.42721967del" "" "likely pathogenic (dominant)" "" "0000761722" "0" "77" "6" "42689699" "42689699" "subst" "4.06564E-6" "04036" "PRPH2_000094" "g.42689699G>A" "2/7" "{PMID:Schatz 2003:14510799}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 125; p.Ser125Leu" "" "Germline" "yes" "" "0" "" "" "g.42721961G>A" "" "likely pathogenic (dominant)" "" "0000761723" "11" "77" "6" "42689699" "42689699" "subst" "4.06564E-6" "04036" "PRPH2_000094" "g.42689699G>A" "2/7" "{PMID:Schatz 2003:14510799}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 125; p.Ser125Leu" "" "Germline" "yes" "" "0" "" "" "g.42721961G>A" "" "likely pathogenic (dominant)" "" "0000761724" "0" "77" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000077" "g.42689696A>G" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689696A>G; p.(Leu126Pro)" "" "Germline" "" "" "0" "" "" "g.42721958A>G" "" "likely pathogenic (dominant)" "" "0000761725" "20" "97" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000077" "g.42689696A>G" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.377T>C; p.Leu126Pro" "" "Germline" "no" "" "0" "" "" "g.42721958A>G" "" "pathogenic (dominant)" "" "0000761726" "21" "77" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000077" "g.42689696A>G" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.377TC; p.Leu126Pro" "" "Germline" "yes" "" "0" "" "" "g.42721958A>G" "" "likely pathogenic (dominant)" "" "0000761727" "0" "77" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000077" "g.42689696A>G" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.377TC; p.Leu126Pro" "" "Germline" "yes" "" "0" "" "" "g.42721958A>G" "" "likely pathogenic (dominant)" "" "0000761728" "20" "77" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000106" "g.42689696A>C" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Leu126Arg" "" "Germline" "yes" "" "0" "" "" "g.42721958A>C" "" "likely pathogenic (dominant)" "" "0000761729" "20" "77" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000106" "g.42689696A>C" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Leu126Arg" "" "Germline" "yes" "" "0" "" "" "g.42721958A>C" "" "likely pathogenic (dominant)" "" "0000761730" "21" "77" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000106" "g.42689696A>C" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Leu126Arg" "" "Germline" "yes" "" "0" "" "" "g.42721958A>C" "" "likely pathogenic (dominant)" "" "0000761731" "11" "77" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000106" "g.42689696A>C" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Leu126Arg" "" "Germline" "yes" "" "0" "" "" "g.42721958A>C" "" "likely pathogenic (dominant)" "" "0000761732" "11" "77" "6" "42689696" "42689696" "subst" "0" "04036" "PRPH2_000106" "g.42689696A>C" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Leu126Arg" "" "Germline" "yes" "" "0" "" "" "g.42721958A>C" "" "likely pathogenic (dominant)" "" "0000761733" "0" "77" "6" "42689693" "42689693" "subst" "0.000357663" "04036" "PRPH2_000268" "g.42689693T>C" "1/62" "{PMID:Yoon 2015:26155838}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42721955T>C" "" "likely pathogenic (dominant)" "" "0000761734" "0" "57" "6" "42689693" "42689693" "subst" "0.000357663" "04036" "PRPH2_000268" "g.42689693T>C" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.380A>G; p.Glu127Gly" "" "Germline" "yes" "" "0" "" "" "g.42721955T>C" "" "VUS" "" "0000761735" "0" "57" "6" "42689693" "42689693" "subst" "0.000357663" "04036" "PRPH2_000268" "g.42689693T>C" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.380A>G; p.Glu127Gly" "" "Germline" "yes" "" "0" "" "" "g.42721955T>C" "" "VUS" "" "0000761736" "0" "57" "6" "42689693" "42689693" "subst" "0.000357663" "04036" "PRPH2_000268" "g.42689693T>C" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.380A>G; p.Glu127Gly" "" "Germline" "yes" "" "0" "" "" "g.42721955T>C" "" "VUS" "" "0000761737" "0" "77" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "4/4 families" "{PMID:Fakin 2012:22842402}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C (p.Leu130Pro)" "" "Germline" "yes" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic (dominant)" "" "0000761738" "11" "77" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "4/4 families" "{PMID:Fakin 2012:22842402}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C (p.Leu130Pro)" "" "Germline" "yes" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic (dominant)" "" "0000761739" "11" "77" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "4/4 families" "{PMID:Fakin 2012:22842402}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C (p.Leu130Pro)" "" "Germline" "yes" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic (dominant)" "" "0000761740" "11" "77" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "4/4 families" "{PMID:Fakin 2012:22842402}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C (p.Leu130Pro)" "" "Germline" "yes" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic (dominant)" "" "0000761741" "0" "97" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "1/170" "{PMID:Sullivan 2013:23950152}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C; p.Leu130Pro" "" "Unknown" "" "" "0" "" "" "g.42721946A>G" "" "pathogenic (dominant)" "" "0000761742" "0" "77" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C; p.Leu130Pro" "" "Unknown" "" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic (dominant)" "" "0000761743" "0" "77" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C; p.Leu130Pro" "" "Germline" "yes" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic (dominant)" "" "0000761744" "0" "77" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C; p.Leu130Pro" "" "Germline" "yes" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic (dominant)" "" "0000761745" "0" "77" "6" "42689684" "42689684" "subst" "0" "04036" "PRPH2_000141" "g.42689684A>G" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.389T>C; p.Leu130Pro" "" "Unknown" "" "" "0" "" "" "g.42721946A>G" "" "likely pathogenic (dominant)" "" "0000761746" "0" "99" "6" "42689680" "42689680" "del" "0" "04036" "PRPH2_000267" "g.42689680del" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.394delC; p.Gln132Lysfs*7" "" "Unknown" "" "rs769723975" "0" "" "" "g.42721942del" "" "pathogenic (dominant)" "" "0000761747" "0" "99" "6" "42689680" "42689680" "del" "0" "04036" "PRPH2_000267" "g.42689680del" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.394delC; p.Gln132Lysfs*7" "" "Unknown" "" "rs769723975" "0" "" "" "g.42721942del" "" "pathogenic (dominant)" "" "0000761748" "0" "99" "6" "42689680" "42689680" "del" "0" "04036" "PRPH2_000267" "g.42689680del" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.394delC; p.Gln132Lysfs*7" "" "Unknown" "" "rs769723975" "0" "" "" "g.42721942del" "" "pathogenic (dominant)" "" "0000761749" "0" "79" "6" "42689680" "42689680" "del" "0" "04036" "PRPH2_000267" "g.42689680del" "" "{PMID:Ba-Abbed 2014:24608669}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.394delC, p.Q132fs" "" "Unknown" "" "rs769723975" "0" "" "" "g.42721942del" "" "likely pathogenic (dominant)" "" "0000761750" "0" "55" "6" "42689670" "42689670" "subst" "0" "04036" "PRPH2_000266" "g.42689670T>C" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.403A>G; p.Lys135Glu" "" "Unknown" "" "" "0" "" "" "g.42721932T>C" "" "VUS" "" "0000761751" "0" "95" "6" "42689663" "42689663" "subst" "0" "04036" "PRPH2_000265" "g.42689663C>T" "1/203" "{PMID:Jin 2008:18310263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.410G>A; G137D" "" "Unknown" "" "rs527236097" "0" "" "" "g.42721925C>T" "" "pathogenic (dominant)" "" "0000761752" "0" "55" "6" "42689663" "42689663" "subst" "0" "04036" "PRPH2_000265" "g.42689663C>T" "" "{PMID:Miyata 2018:30217183}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.410G>A" "" "Unknown" "" "rs527236097" "0" "" "" "g.42721925C>T" "" "VUS" "" "0000761753" "0" "55" "6" "42689663" "42689663" "subst" "0" "04036" "PRPH2_000265" "g.42689663C>T" "2/329" "{PMID:Oishi 2014:25324289}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.410G>A; p.G137D (hetero)" "" "Unknown" "" "rs527236097" "0" "" "" "g.42721925C>T" "" "VUS" "" "0000761754" "0" "55" "6" "42689663" "42689663" "subst" "0" "04036" "PRPH2_000265" "g.42689663C>T" "2/329" "{PMID:Oishi 2014:25324289}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.410G>A; p.G137D (hetero)" "" "Unknown" "" "rs527236097" "0" "" "" "g.42721925C>T" "" "VUS" "" "0000761755" "0" "77" "6" "42689657" "42689659" "del" "0" "04036" "PRPH2_000264" "g.42689657_42689659del" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.415_417del; p.K139del" "" "Unknown" "" "" "0" "" "" "g.42721919_42721921del" "" "likely pathogenic (dominant)" "" "0000761756" "0" "77" "6" "42689657" "42689659" "del" "0" "04036" "PRPH2_000264" "g.42689657_42689659del" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.415_417del; p.K139del" "" "Unknown" "" "" "0" "" "" "g.42721919_42721921del" "" "likely pathogenic (dominant)" "" "0000761757" "0" "99" "6" "42689652" "42689656" "" "0" "04036" "PRPH2_000308" "g.(42689652_42689656)insN[1]" "1/300" "{PMID:Payne 1998:9443872}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "140ins (1 bp)" "ACMG PVS1, PM1, PM2" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000761758" "0" "79" "6" "42689652" "42689655" "dup" "0" "04036" "PRPH2_000263" "g.42689652_42689655dup" "6/13" "{PMID:Keen 1994:8004111}, {PMID:Kim 1995:7710395}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "4-bp insertion (TACT) at codon 140" "" "Germline" "yes" "rs672601326" "0" "" "" "g.42721914_42721917dup" "" "likely pathogenic (dominant)" "" "0000761759" "0" "79" "6" "42689652" "42689655" "dup" "0" "04036" "PRPH2_000263" "g.42689652_42689655dup" "6/13" "{PMID:Keen 1994:8004111}, {PMID:Kim 1995:7710395}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "4-bp insertion (TACT) at codon 140" "" "Germline" "yes" "rs672601326" "0" "" "" "g.42721914_42721917dup" "" "likely pathogenic (dominant)" "" "0000761760" "0" "79" "6" "42689652" "42689655" "dup" "0" "04036" "PRPH2_000263" "g.42689652_42689655dup" "6/13" "{PMID:Keen 1994:8004111}, {PMID:Kim 1995:7710395}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "4-bp insertion (TACT) at codon 140" "" "Germline" "yes" "rs672601326" "0" "" "" "g.42721914_42721917dup" "" "likely pathogenic (dominant)" "" "0000761761" "0" "79" "6" "42689652" "42689655" "dup" "0" "04036" "PRPH2_000263" "g.42689652_42689655dup" "6/13" "{PMID:Keen 1994:8004111}, {PMID:Kim 1995:7710395}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "4-bp insertion (TACT) at codon 140" "" "Germline" "yes" "rs672601326" "0" "" "" "g.42721914_42721917dup" "" "likely pathogenic (dominant)" "" "0000761762" "21" "79" "6" "42689652" "42689655" "dup" "0" "04036" "PRPH2_000263" "g.42689652_42689655dup" "6/13" "{PMID:Keen 1994:8004111}, {PMID:Kim 1995:7710395}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "4-bp insertion (TACT) at codon 140" "" "Germline" "yes" "rs672601326" "0" "" "" "g.42721914_42721917dup" "" "likely pathogenic (dominant)" "" "0000761763" "0" "79" "6" "42689652" "42689655" "dup" "0" "04036" "PRPH2_000263" "g.42689652_42689655dup" "6/13" "{PMID:Keen 1994:8004111}, {PMID:Kim 1995:7710395}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "4-bp insertion (TACT) at codon 140" "" "Germline" "yes" "rs672601326" "0" "" "" "g.42721914_42721917dup" "" "likely pathogenic (dominant)" "" "0000761764" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761765" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761766" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761767" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761768" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761769" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761770" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761771" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761772" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761773" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "10/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.661T>C; Y141H" "" "Germline" "yes" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761774" "0" "79" "6" "42689652" "42689652" "subst" "0" "04036" "PRPH2_000262" "g.42689652A>G" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "658 TAC>CAC; Tyr141His" "" "Germline" "" "rs61755780" "0" "" "" "g.42721914A>G" "" "likely pathogenic (dominant)" "" "0000761775" "0" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "4/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761776" "11" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "4/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761777" "11" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "4/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761778" "11" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "4/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761779" "20" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "8/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761780" "20" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "8/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761781" "20" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "8/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761782" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "8/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761783" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "8/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761784" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "8/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761785" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "8/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761786" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "8/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761787" "20" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "6/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761788" "20" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "6/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761789" "20" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "6/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761790" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "6/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761791" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "6/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761792" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "6/45" "{PMID:Yang 2004:15370544}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761793" "0" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761794" "0" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761795" "0" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761796" "0" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761797" "0" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761798" "11" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761799" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761800" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761801" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "9/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761802" "20" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "3/5" "{PMID:Vaclavik 2012:22466463}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "422A.G (Tyr141Cys)" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761803" "10" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "3/5" "{PMID:Vaclavik 2012:22466463}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "422A.G (Tyr141Cys)" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761804" "21" "79" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "3/5" "{PMID:Vaclavik 2012:22466463}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "422A.G (Tyr141Cys)" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "likely pathogenic (dominant)" "" "0000761805" "21" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "2/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761806" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "2/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761807" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "2/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761808" "21" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "2/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761809" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "2/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761810" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "1/65" "{PMID:Wang 2014:25097241}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G (p.Y141C)" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761811" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761812" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761813" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761814" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/188" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761815" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/189" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761816" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/190" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761817" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/191" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761818" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/192" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761819" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/193" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761820" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/194" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761821" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/195" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761822" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/196" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761823" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/197" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761824" "0" "99" "6" "42689651" "42689651" "subst" "0" "04036" "PRPH2_000105" "g.42689651T>C" "14/198" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.422A>G; p.Tyr141Cys" "" "Unknown" "" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic (dominant)" "" "0000761825" "0" "99" "6" "42689650" "42689650" "subst" "0" "04036" "PRPH2_000261" "g.42689650G>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.423C>A; p.Y141*" "" "Unknown" "" "" "0" "" "" "g.42721912G>T" "" "pathogenic (dominant)" "" "0000761826" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T; p.R142W" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761827" "3" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic" "" "0000761828" "3" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic" "" "0000761829" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761830" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761831" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761832" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761833" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761834" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761835" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761836" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761837" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761838" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761839" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761840" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761841" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761842" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761843" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761844" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761845" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761846" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761847" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761848" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761849" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761850" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761851" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761852" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761853" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761854" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761855" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761856" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761857" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761858" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761859" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761860" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761861" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761862" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761863" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761864" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "39/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Chr6(GRCh37):g.42689649G>A; p.(Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761865" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761866" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761867" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761868" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761869" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761870" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761871" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761872" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761873" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761874" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761875" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761876" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "12/20" "{PMID:Hoyng 1996:8644804}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "cytosine-to-thymine change at position 664 ; p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761877" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "3/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "g664C>T; R142W" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761878" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "3/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "g664C>T; R142W" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761879" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "3/30" "{PMID:Trujillo 2001:11139263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "g664C>T; R142W" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761880" "10" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761881" "10" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761882" "10" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761883" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761884" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761885" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761886" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761887" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761888" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761889" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761890" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761891" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761892" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761893" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761894" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761895" "20" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761896" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761897" "10" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761898" "10" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761899" "10" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Klevering 2002:11801511}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761900" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "2/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "661 CGG>TGG; Arg142 Trp" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761901" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "2/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "661 CGG>TGG; Arg142 Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761902" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "2/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "661 CGG>TGG; Arg142 Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761903" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "1/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T; p.Arg142Trp" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761904" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761905" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761906" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761907" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761908" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761909" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761910" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761911" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761912" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761913" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761914" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761915" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761916" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761917" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761918" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761919" "11" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761920" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761921" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761922" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761923" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761924" "21" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "21/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "p.Arg142Trp" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761925" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761926" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761927" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761928" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761929" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761930" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761931" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761932" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761933" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761934" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761935" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761936" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761937" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761938" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761939" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761940" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761941" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761942" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761943" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761944" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761945" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761946" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761947" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761948" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761949" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761950" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761951" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761952" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761953" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "29/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424CT (p.Arg142Trp)" "" "Germline" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761954" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "1/170" "{PMID:Sullivan 2013:23950152}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T; p.Arg142Trp" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761955" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "1/86" "{PMID:Van Cauwenbergh 2017:28076437}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T ; p.(Arg142Trp)" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761956" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "3/351" "{PMID:Kersten 2018:30215852}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C > T; p.R142W" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761957" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "3/351" "{PMID:Kersten 2018:30215852}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C > T; p.R142W" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761958" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "3/351" "{PMID:Kersten 2018:30215852}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C > T; p.R142W" "" "Germline" "yes" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761959" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "5/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T; p.Arg142Trp" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761960" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "5/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T; p.Arg142Trp" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761961" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "5/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T; p.Arg142Trp" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761962" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "5/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T; p.Arg142Trp" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761963" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "5/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T; p.Arg142Trp" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761964" "0" "99" "6" "42689649" "42689649" "subst" "1.62463E-5" "04036" "PRPH2_000001" "g.42689649G>A" "1/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI-" "c.424C>T p.(Arg142Trp)" "" "Unknown" "" "rs61755783" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000761965" "0" "77" "6" "42689648" "42689648" "subst" "4.06204E-6" "04036" "PRPH2_000140" "g.42689648C>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.425G>A; p.Arg142Gln" "" "Unknown" "" "rs554945964" "0" "" "" "g.42721910C>T" "" "likely pathogenic (dominant)" "" "0000761966" "0" "79" "6" "42689640" "42689641" "del" "0" "04036" "PRPH2_000039" "g.42689640_42689641del" "2/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.433_434delGA; p.D145fsX30" "" "Germline" "yes" "" "0" "" "" "g.42721902_42721903del" "" "likely pathogenic (dominant)" "" "0000761967" "0" "79" "6" "42689640" "42689641" "del" "0" "04036" "PRPH2_000039" "g.42689640_42689641del" "2/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.433_434delGA; p.D145fsX30" "" "Germline" "yes" "" "0" "" "" "g.42721902_42721903del" "" "likely pathogenic (dominant)" "" "0000761968" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761969" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761970" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761971" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761972" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761973" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761974" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761975" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "the third base of codon 147 (nucleotide 689) that changed the open reading frame and generated a stop codon five aminoacids later" "" "Germline" "" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761976" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "7/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441delT; p.P147fsX4" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761977" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "7/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441delT; p.P147fsX4" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761978" "21" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "7/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441delT; p.P147fsX4" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761979" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "7/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441delT; p.P147fsX4" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761980" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "7/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441delT; p.P147fsX4" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761981" "0" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "7/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441delT; p.P147fsX4" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761982" "21" "79" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "7/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441delT; p.P147fsX4" "" "Germline" "yes" "rs61755784" "0" "" "" "g.42721894del" "" "likely pathogenic (dominant)" "" "0000761983" "0" "99" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "5/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441del; p.G148Afs*5" "" "Unknown" "" "rs61755784" "0" "" "" "g.42721894del" "" "pathogenic (dominant)" "" "0000761984" "0" "99" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "5/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441del; p.G148Afs*5" "" "Unknown" "" "rs61755784" "0" "" "" "g.42721894del" "" "pathogenic (dominant)" "" "0000761985" "0" "99" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "5/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "Chr6(GRCh37):g.42689632del; p.(Gly148fs)" "" "Germline" "" "rs61755784" "0" "" "" "g.42721894del" "" "pathogenic (dominant)" "" "0000761986" "0" "99" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "5/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "Chr6(GRCh37):g.42689632del; p.(Gly148fs)" "" "Germline" "" "rs61755784" "0" "" "" "g.42721894del" "" "pathogenic (dominant)" "" "0000761987" "0" "99" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "5/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "Chr6(GRCh37):g.42689632del; p.(Gly148fs)" "" "Germline" "" "rs61755784" "0" "" "" "g.42721894del" "" "pathogenic (dominant)" "" "0000761988" "0" "99" "6" "42689632" "42689632" "del" "4.06108E-6" "04036" "PRPH2_000002" "g.42689632del" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspI+;MvaI-" "c.441delT; p.Gly148Alafs*5" "" "Unknown" "" "rs61755784" "0" "" "" "g.42721894del" "" "pathogenic (dominant)" "" "0000761989" "0" "55" "6" "42689619" "42689619" "subst" "4.06088E-5" "04036" "PRPH2_000065" "g.42689619T>C" "3/203" "{PMID:Jin 2008:18310263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.454A>G; M152V" "" "Unknown" "" "" "0" "" "" "g.42721881T>C" "" "VUS" "" "0000761990" "0" "55" "6" "42689619" "42689619" "subst" "4.06088E-5" "04036" "PRPH2_000065" "g.42689619T>C" "3/203" "{PMID:Jin 2008:18310263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.454A>G; M152V" "" "Unknown" "" "" "0" "" "" "g.42721881T>C" "" "VUS" "" "0000761991" "0" "55" "6" "42689619" "42689619" "subst" "4.06088E-5" "04036" "PRPH2_000065" "g.42689619T>C" "3/203" "{PMID:Jin 2008:18310263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.454A>G; M152V" "" "Unknown" "" "" "0" "" "" "g.42721881T>C" "" "VUS" "" "0000761992" "0" "77" "6" "42689616" "42689616" "subst" "0" "04036" "PRPH2_000260" "g.42689616T>C" "1/26" "{PMID:Lee 2015:25910913}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.457A>G (p.Lys153Glu)" "" "Unknown" "" "" "0" "" "" "g.42721878T>C" "" "likely pathogenic (dominant)" "" "0000761993" "0" "77" "6" "42689615" "42689615" "subst" "0" "04036" "PRPH2_000038" "g.42689615T>C" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689615T>C; p.(Lys153Arg)" "" "Germline" "" "rs61755785" "0" "" "" "g.42721877T>C" "" "likely pathogenic (dominant)" "" "0000761994" "0" "77" "6" "42689615" "42689615" "subst" "0" "04036" "PRPH2_000038" "g.42689615T>C" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "K153R" "" "Germline" "yes" "rs61755785" "0" "" "" "g.42721877T>C" "" "likely pathogenic (dominant)" "" "0000761995" "0" "77" "6" "42689615" "42689615" "subst" "0" "04036" "PRPH2_000038" "g.42689615T>C" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "K153R" "" "Germline" "yes" "rs61755785" "0" "" "" "g.42721877T>C" "" "likely pathogenic (dominant)" "" "0000761996" "0" "77" "6" "42689615" "42689615" "subst" "0" "04036" "PRPH2_000038" "g.42689615T>C" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "K153R" "" "Germline" "yes" "rs61755785" "0" "" "" "g.42721877T>C" "" "likely pathogenic (dominant)" "" "0000761997" "0" "77" "6" "42689615" "42689615" "subst" "0" "04036" "PRPH2_000038" "g.42689615T>C" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "K153R" "" "Germline" "yes" "rs61755785" "0" "" "" "g.42721877T>C" "" "likely pathogenic (dominant)" "" "0000761998" "0" "77" "6" "42689615" "42689615" "subst" "0" "04036" "PRPH2_000038" "g.42689615T>C" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "K153R" "" "Germline" "yes" "rs61755785" "0" "" "" "g.42721877T>C" "" "likely pathogenic (dominant)" "" "0000761999" "0" "57" "6" "42689615" "42689615" "subst" "0" "04036" "PRPH2_000038" "g.42689615T>C" "1/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.458A>G; p.Lys153Arg" "" "Unknown" "" "rs61755785" "0" "" "" "g.42721877T>C" "" "VUS" "" "0000762000" "0" "55" "6" "42689615" "42689615" "subst" "0" "04036" "PRPH2_000259" "g.42689615T>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.458A>C; p.Lys153Thr" "" "Unknown" "" "" "0" "" "" "g.42721877T>G" "" "VUS" "" "0000762001" "0" "55" "6" "42689613" "42689613" "subst" "4.06072E-6" "04036" "PRPH2_000258" "g.42689613T>G" "1/145 cases" "{PMID:Wang 2015:26047050} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.460A>C, p.K154Q" "" "Unknown" "" "" "0" "" "" "g.42721875T>G" "" "VUS" "" "0000762002" "0" "55" "6" "42689613" "42689613" "subst" "4.06072E-6" "04036" "PRPH2_000258" "g.42689613T>G" "1/349" "{PMID:Arai 2015:26161267}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.460A>C; p.K154Q" "" "Unknown" "" "" "0" "" "" "g.42721875T>G" "" "VUS" "" "0000762003" "0" "55" "6" "42689613" "42689613" "subst" "4.06072E-6" "04036" "PRPH2_000258" "g.42689613T>G" "1/3944" "{PMID:Gao 2019:31054281}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.460A>C; p.Lys154Gln" "" "Unknown" "" "" "0" "" "" "g.42721875T>G" "" "VUS" "" "0000762004" "0" "77" "6" "42689615" "42689617" "del" "0" "04036" "PRPH2_000084" "g.42689615_42689617del" "4/4 families" "{PMID:Weleber 1993:8240110}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MboII" "3 basepair deletion of codon 153 or 154" "" "Germline" "yes" "rs61755786" "0" "" "" "g.42721877_42721879del" "" "likely pathogenic (dominant)" "" "0000762005" "21" "77" "6" "42689615" "42689617" "del" "0" "04036" "PRPH2_000084" "g.42689615_42689617del" "4/4 families" "{PMID:Weleber 1993:8240110}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MboII" "3 basepair deletion of codon 153 or 154" "" "Germline" "yes" "rs61755786" "0" "" "" "g.42721877_42721879del" "" "likely pathogenic (dominant)" "" "0000762006" "21" "77" "6" "42689615" "42689617" "del" "0" "04036" "PRPH2_000084" "g.42689615_42689617del" "4/4 families" "{PMID:Weleber 1993:8240110}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MboII" "3 basepair deletion of codon 153 or 154" "" "Germline" "yes" "rs61755786" "0" "" "" "g.42721877_42721879del" "" "likely pathogenic (dominant)" "" "0000762007" "21" "77" "6" "42689615" "42689617" "del" "0" "04036" "PRPH2_000084" "g.42689615_42689617del" "4/4 families" "{PMID:Weleber 1993:8240110}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MboII" "3 basepair deletion of codon 153 or 154" "" "Germline" "yes" "rs61755786" "0" "" "" "g.42721877_42721879del" "" "likely pathogenic (dominant)" "" "0000762008" "0" "77" "6" "42689615" "42689617" "del" "0" "04036" "PRPH2_000084" "g.42689615_42689617del" "4/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MboII" "p.Lys154del" "" "Unknown" "" "rs61755786" "0" "" "" "g.42721877_42721879del" "" "likely pathogenic (dominant)" "" "0000762009" "0" "97" "6" "42689615" "42689617" "del" "0" "04036" "PRPH2_000084" "g.42689615_42689617del" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MboII" "c.461_463delAGA; p.Lys154del" "" "Unknown" "" "rs61755786" "0" "" "" "g.42721877_42721879del" "" "pathogenic (dominant)" "" "0000762010" "0" "97" "6" "42689615" "42689617" "del" "0" "04036" "PRPH2_000084" "g.42689615_42689617del" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MboII" "c.461_463delAGA; p.Lys154del" "" "Unknown" "" "rs61755786" "0" "" "" "g.42721877_42721879del" "" "pathogenic (dominant)" "" "0000762011" "0" "57" "6" "42689609" "42689609" "subst" "1.21824E-5" "04036" "PRPH2_000257" "g.42689609G>A" "1/15" "{PMID:Nanda 2019:30731082}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.464C>T" "" "Unknown" "" "" "0" "" "" "g.42721871G>A" "" "VUS" "" "0000762012" "0" "77" "6" "42689604" "42689604" "subst" "0" "04036" "PRPH2_000256" "g.42689604C>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-TaqI" "c.469G>A; p.D157N" "" "Unknown" "" "rs61755787" "0" "" "" "g.42721866C>T" "" "likely pathogenic (dominant)" "" "0000762013" "0" "77" "6" "42689604" "42689604" "subst" "0" "04036" "PRPH2_000256" "g.42689604C>T" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-TaqI" "D157N" "" "Germline" "yes" "rs61755787" "0" "" "" "g.42721866C>T" "" "likely pathogenic (dominant)" "" "0000762014" "0" "77" "6" "42689604" "42689604" "subst" "0" "04036" "PRPH2_000256" "g.42689604C>T" "1/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-TaqI" "p.D157N" "" "Germline/De novo (untested)" "no" "rs61755787" "0" "" "" "g.42721866C>T" "" "likely pathogenic (dominant)" "" "0000762015" "0" "77" "6" "42689604" "42689604" "subst" "0" "04036" "PRPH2_000256" "g.42689604C>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-TaqI" "c.469G>A; p.Asp157Asn" "" "Unknown" "" "rs61755787" "0" "" "" "g.42721866C>T" "" "likely pathogenic (dominant)" "" "0000762016" "0" "77" "6" "42689604" "42689604" "subst" "0" "04036" "PRPH2_000256" "g.42689604C>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-TaqI" "c.469G>A; p.Asp157Asn" "" "Unknown" "" "rs61755787" "0" "" "" "g.42721866C>T" "" "likely pathogenic (dominant)" "" "0000762017" "0" "79" "6" "42689595" "42689595" "subst" "0" "04036" "PRPH2_000255" "g.42689595G>A" "1/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.478C>T; p.(Gln160*)" "" "Unknown" "" "rs1582780550" "0" "" "" "g.42721857G>A" "" "likely pathogenic (dominant)" "" "0000762018" "0" "79" "6" "42689595" "42689595" "subst" "0" "04036" "PRPH2_000255" "g.42689595G>A" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.478C>T; p.Gln160*" "" "Unknown" "" "rs1582780550" "0" "" "" "g.42721857G>A" "" "likely pathogenic (dominant)" "" "0000762019" "0" "55" "6" "42689590" "42689590" "subst" "0.000381717" "04036" "PRPH2_000075" "g.42689590G>C" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.483C>G; p.Ile161Met" "" "Unknown" "" "" "0" "" "" "g.42721852G>C" "" "VUS" "" "0000762020" "0" "57" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000252" "g.42689579C>A" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.494G>T; p.Cys165Phe" "" "Unknown" "" "" "0" "" "" "g.42721841C>A" "" "VUS" "" "0000762021" "10" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "1/58 cases" "{PMID:Souied 1998:9673478}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762022" "11" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "1/58 cases" "{PMID:Souied 1998:9673478}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762023" "10" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762024" "10" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762025" "21" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762026" "21" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762027" "21" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762028" "21" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762029" "21" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762030" "21" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762031" "21" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762032" "21" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762033" "0" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762034" "11" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762035" "20" "77" "6" "42689579" "42689579" "subst" "0" "04036" "PRPH2_000253" "g.42689579C>T" "3/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BbvI" "c.494G>A; p.Cys165Tyr" "" "Germline" "yes" "rs61755788" "0" "" "" "g.42721841C>T" "" "likely pathogenic (dominant)" "" "0000762036" "0" "77" "6" "42689580" "42689580" "subst" "0" "04036" "PRPH2_000254" "g.42689580A>G" "8/15" "{PMID:Simonelli 2007:17851265}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.493T>C; C165R" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic (dominant)" "" "0000762037" "0" "77" "6" "42689580" "42689580" "subst" "0" "04036" "PRPH2_000254" "g.42689580A>G" "8/15" "{PMID:Simonelli 2007:17851265}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.493T>C; C165R" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic (dominant)" "" "0000762038" "0" "77" "6" "42689580" "42689580" "subst" "0" "04036" "PRPH2_000254" "g.42689580A>G" "8/15" "{PMID:Simonelli 2007:17851265}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.493T>C; C165R" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic (dominant)" "" "0000762039" "20" "77" "6" "42689580" "42689580" "subst" "0" "04036" "PRPH2_000254" "g.42689580A>G" "8/15" "{PMID:Simonelli 2007:17851265}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.493T>C; C165R" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic (dominant)" "" "0000762040" "0" "77" "6" "42689580" "42689580" "subst" "0" "04036" "PRPH2_000254" "g.42689580A>G" "8/15" "{PMID:Simonelli 2007:17851265}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.493T>C; C165R" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic (dominant)" "" "0000762041" "21" "77" "6" "42689580" "42689580" "subst" "0" "04036" "PRPH2_000254" "g.42689580A>G" "8/15" "{PMID:Simonelli 2007:17851265}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.493T>C; C165R" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic (dominant)" "" "0000762042" "21" "77" "6" "42689580" "42689580" "subst" "0" "04036" "PRPH2_000254" "g.42689580A>G" "8/15" "{PMID:Simonelli 2007:17851265}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.493T>C; C165R" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic (dominant)" "" "0000762043" "21" "77" "6" "42689580" "42689580" "subst" "0" "04036" "PRPH2_000254" "g.42689580A>G" "8/15" "{PMID:Simonelli 2007:17851265}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.493T>C; C165R" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic (dominant)" "" "0000762044" "0" "55" "6" "42689576" "42689576" "subst" "0" "04036" "PRPH2_000251" "g.42689576C>T" "6/8" "{PMID:Khan 2016:26061163}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A (p.Cys166Tyr)" "" "Germline" "" "rs786205579" "0" "" "" "g.42721838C>T" "" "VUS" "" "0000762045" "0" "55" "6" "42689576" "42689576" "subst" "0" "04036" "PRPH2_000251" "g.42689576C>T" "6/8" "{PMID:Khan 2016:26061163}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A (p.Cys166Tyr)" "" "Germline" "" "rs786205579" "0" "" "" "g.42721838C>T" "" "VUS" "" "0000762046" "3" "55" "6" "42689576" "42689576" "subst" "0" "04036" "PRPH2_000251" "g.42689576C>T" "6/8" "{PMID:Khan 2016:26061163}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A (p.Cys166Tyr)" "" "Germline" "" "rs786205579" "0" "" "" "g.42721838C>T" "" "VUS" "" "0000762047" "0" "55" "6" "42689576" "42689576" "subst" "0" "04036" "PRPH2_000251" "g.42689576C>T" "6/8" "{PMID:Khan 2016:26061163}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A (p.Cys166Tyr)" "" "Germline" "yes" "rs786205579" "0" "" "" "g.42721838C>T" "" "VUS" "" "0000762048" "3" "55" "6" "42689576" "42689576" "subst" "0" "04036" "PRPH2_000251" "g.42689576C>T" "6/8" "{PMID:Khan 2016:26061163}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A (p.Cys166Tyr)" "" "Germline" "yes" "rs786205579" "0" "" "" "g.42721838C>T" "" "VUS" "" "0000762049" "3" "55" "6" "42689576" "42689576" "subst" "0" "04036" "PRPH2_000251" "g.42689576C>T" "6/8" "{PMID:Khan 2016:26061163}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A (p.Cys166Tyr)" "" "Germline" "yes" "rs786205579" "0" "" "" "g.42721838C>T" "" "VUS" "" "0000762050" "0" "75" "6" "42689576" "42689576" "subst" "0" "04036" "PRPH2_000251" "g.42689576C>T" "1/292 families" "{PMID:Patel 2016:26355662}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.(Cys166Tyr)" "" "Unknown" "" "rs786205579" "0" "" "" "g.42721838C>T" "" "likely pathogenic" "" "0000762051" "0" "99" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689574C>T; p.(Gly167Ser)" "" "Germline" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "pathogenic (dominant)" "" "0000762052" "0" "99" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.499G>A; p.G167S" "" "Unknown" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "pathogenic (dominant)" "" "0000762053" "0" "79" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "3/8" "{PMID:Testa 2005:16024869}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A; G167S" "" "Germline" "yes" "rs527236098" "0" "" "" "g.42721836C>T" "" "likely pathogenic (dominant)" "" "0000762054" "11" "79" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "3/8" "{PMID:Testa 2005:16024869}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A; G167S" "" "Germline" "yes" "rs527236098" "0" "" "" "g.42721836C>T" "" "likely pathogenic (dominant)" "" "0000762055" "11" "79" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "3/8" "{PMID:Testa 2005:16024869}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.497G>A; G167S" "" "Germline" "yes" "rs527236098" "0" "" "" "g.42721836C>T" "" "likely pathogenic (dominant)" "" "0000762056" "0" "59" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "1/44" "{PMID:Meunier 2011:21269699}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly167Ser" "" "Unknown" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "VUS" "" "0000762057" "0" "79" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "1/9" "{PMID:Strom 2012:22863181}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.G167S" "" "Unknown" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "likely pathogenic (dominant)" "" "0000762058" "0" "59" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "1/170" "{PMID:Glöckle 2014:23591405}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly167Ser" "" "Unknown" "no" "rs527236098" "0" "" "" "g.42721836C>T" "" "VUS" "" "0000762059" "0" "59" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "1/329" "{PMID:Oishi 2014:25324289}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly167Ser" "" "Unknown" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "VUS" "" "0000762060" "0" "99" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "1/88" "{PMID:Zaneveld 2015:25474345}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.499 G>A; p.(G167S)" "" "Unknown" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "pathogenic (dominant)" "" "0000762061" "20" "99" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "3/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly167Ser" "" "Germline" "yes" "rs527236098" "0" "" "" "g.42721836C>T" "" "pathogenic (dominant)" "" "0000762062" "21" "99" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "3/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly167Ser" "" "Germline" "yes" "rs527236098" "0" "" "" "g.42721836C>T" "" "pathogenic (dominant)" "" "0000762063" "21" "99" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "3/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly167Ser" "" "Germline" "yes" "rs527236098" "0" "" "" "g.42721836C>T" "" "pathogenic (dominant)" "" "0000762064" "0" "79" "6" "42689574" "42689574" "subst" "0" "04036" "PRPH2_000037" "g.42689574C>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.499G>A; p.Gly167Ser" "" "Unknown" "" "rs527236098" "0" "" "" "g.42721836C>T" "" "likely pathogenic (dominant)" "" "0000762065" "10" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762066" "10" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762067" "10" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762068" "10" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762069" "10" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762070" "21" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762071" "21" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762072" "21" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762073" "21" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762074" "21" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762075" "11" "99" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "11/24" "{PMID:Nichols 1993:8485574}, {PMID:Kemp 1994:8045710} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "G to A transition in the second nucleotide of codon 167; Gly167Asp" "" "Germline" "yes" "rs61755789" "0" "" "" "g.42721835C>T" "" "pathogenic (dominant)" "" "0000762076" "0" "59" "6" "42689573" "42689573" "subst" "0" "04036" "PRPH2_000139" "g.42689573C>T" "" "{PMID:Ba-Abbad 2019:31063015}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "AciI-" "c.500G>A, p.(Gly167Asp)" "" "Unknown" "" "rs61755789" "0" "" "" "g.42721835C>T" "" "VUS" "" "0000762077" "0" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689566_42689568del" "" "Germline" "" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762078" "0" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689566_42689568del" "" "Germline" "" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762079" "10" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762080" "10" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762081" "10" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762082" "10" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762083" "10" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762084" "10" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762085" "20" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762086" "11" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762087" "11" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762088" "11" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762089" "11" "77" "6" "42689570" "42689572" "del" "0" "04036" "PRPH2_000036" "g.42689570_42689572del" "11/20" "{PMID:van Lith-Verhoeven 2003:14557182}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 basepair deletion affecting either codon 168 or 169; p.Asn168 del or p.Asn169del" "" "Germline" "yes" "rs61755790" "0" "" "" "g.42721832_42721834del" "" "likely pathogenic (dominant)" "" "0000762090" "0" "77" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000250" "g.42689559G>C" "" "{PMID:Nichols 1993:93251036} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg172Gly" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>C" "" "likely pathogenic (dominant)" "" "0000762091" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.R172W" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762092" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.R172W" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762093" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.R172W" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762094" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp)" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762095" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp)" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762096" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp)" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762097" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp)" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762098" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp)" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762099" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689559G>A; p.(Arg172Trp)" "" "Germline" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762100" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762101" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762102" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762103" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762104" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762105" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762106" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/58 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762107" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/58 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762108" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/58 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762109" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/58 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp (Wells and Wroblewski); C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762110" "10" "79" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/2 families" "{PMID:Nakazawa 1995:8747448} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "likely pathogenic (dominant)" "" "0000762111" "11" "79" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/2 families" "{PMID:Nakazawa 1995:8747448} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "likely pathogenic (dominant)" "" "0000762112" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "3/7" "{PMID:Reig 1995:7493155}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "G-to-A nucleotide sequence change in the antisense strand; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762113" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "3/7" "{PMID:Reig 1995:7493155}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "G-to-A nucleotide sequence change in the antisense strand; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762114" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "3/7" "{PMID:Reig 1995:7493155}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "G-to-A nucleotide sequence change in the antisense strand; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762115" "0" "79" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "likely pathogenic (dominant)" "" "0000762116" "0" "79" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "likely pathogenic (dominant)" "" "0000762117" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762118" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762119" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762120" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762121" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762122" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762123" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762124" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762125" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762126" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762127" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762128" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762129" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762130" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762131" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762132" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762133" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762134" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762135" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762136" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762137" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "10/400 cases" "{PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C>T change at codon 172; p.Arg172Trp (Payne); Arg172Trp (Downes)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762138" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "7/13" "{PMID:Ekström 1998:9810570), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition; Arg-172-Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762139" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "7/13" "{PMID:Ekström 1998:9810570), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition; Arg-172-Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762140" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "7/13" "{PMID:Ekström 1998:9810570), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition; Arg-172-Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762141" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "7/13" "{PMID:Ekström 1998:9810570), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition; Arg-172-Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762142" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "7/13" "{PMID:Ekström 1998:9810570), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition; Arg-172-Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762143" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "7/13" "{PMID:Ekström 1998:9810570), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition; Arg-172-Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762144" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "7/13" "{PMID:Ekström 1998:9810570), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C-to-T transition; Arg-172-Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762145" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/38" "{PMID:Ekström 1998:10193525}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762146" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762147" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762148" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762149" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762150" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762151" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762152" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762153" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762154" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762155" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762156" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762157" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762158" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/178" "{PMID:Donoso 2003:12608515), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G mutation at codon 172; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762159" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Ba-Abbad 2014:24608669}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762160" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762161" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762162" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Ba-Abbad 2014:24608669}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762163" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762164" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762165" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762166" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762167" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "9/22" "{PMID:Michaelides 2005:16019073}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W (C-to-T transition in codon 172)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762168" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "751 CGG>TGG; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762169" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "751 CGG>TGG; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762170" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "751 CGG>TGG; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762171" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "751 CGG>TGG; Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762172" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "3/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514CT; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762173" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "3/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514CT; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762174" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "3/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514CT; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762175" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762176" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762177" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762178" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762179" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762180" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762181" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762182" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762183" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762184" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762185" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762186" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762187" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762188" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762189" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762190" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762191" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762192" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Anand 2009:19262438}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg172Trp" "" "Germline" "no" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762193" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "8/18" "{PMID:Poloschek 2010:20335603), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762194" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "8/18" "{PMID:Poloschek 2010:20335603), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762195" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "8/18" "{PMID:Poloschek 2010:20335603), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762196" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "8/18" "{PMID:Poloschek 2010:20335603), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762197" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "8/18" "{PMID:Poloschek 2010:20335603), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762198" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "8/18" "{PMID:Poloschek 2010:20335603), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762199" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "8/18" "{PMID:Poloschek 2010:20335603), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762200" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "8/18" "{PMID:Poloschek 2010:20335603), {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762201" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/20" "{PMID:Yeoh 2010:20640437}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R172W" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762202" "0" "59" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/31" "{PMID:Duncan 2011:21071739}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; Arg172Trp" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "VUS" "" "0000762203" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Strom 2012:22863181}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.R172W" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762204" "0" "59" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Ba-Abbad 2014:24608669}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T, p.R172W" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "VUS" "" "0000762205" "0" "59" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Ba-Abbad 2014:24608669}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T, p.R172W" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "VUS" "" "0000762206" "10" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/213" "{PMID:Alpati 2014:25082885} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T (p.Arg172Trp)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762207" "20" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/213" "{PMID:Alpati 2014:25082885} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T (p.Arg172Trp)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762208" "21" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "1/213" "{PMID:Alpati 2014:25082885} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762209" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/3" "{PMID:Maertz 2015:25803555}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762210" "11" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "2/3" "{PMID:Maertz 2015:25803555}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762211" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "4/96" "{PMID:Boulanger 2015:26103963}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.(R172W)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762212" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "4/96" "{PMID:Boulanger 2015:26103963}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.(R172W)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762213" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "4/96" "{PMID:Boulanger 2015:26103963}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.(R172W)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762214" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "4/96" "{PMID:Boulanger 2015:26103963}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.(R172W)" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762215" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762216" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762217" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762218" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762219" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762220" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762221" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762222" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Germline" "yes" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762223" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762224" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762225" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762226" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762227" "0" "99" "6" "42689559" "42689559" "subst" "0" "04036" "PRPH2_000035" "g.42689559G>A" "13/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.514C>T; p.Arg172Trp" "" "Unknown" "" "rs61755792" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "" "0000762228" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "3/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515G>A ; p.R172Q" "" "Unknown" "" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762229" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "3/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689558C>T; p.(Arg172Gln)" "" "Germline" "" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762230" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "3/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515G>A ; p.R172Q" "" "Unknown" "" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762231" "20" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "1/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "1/58 (index cases only; not mentioned how many family members were screened in total)" "c.515 G>A (p.Arg172Gln) [Payne and Downes]; p.Arg172Gln [Wells and Wroblewski]" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762232" "20" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "1/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515 G>A (p.Arg172Gln) [Payne and Downes]; p.Arg172Gln [Wells and Wroblewski]" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762233" "10" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "1/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515 G>A (p.Arg172Gln) [Payne and Downes]; p.Arg172Gln [Wells and Wroblewski]" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762234" "10" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "1/400 cases" "{PMID:Wells 1993:8485576}, {PMID:Wroblewski 1994:8302543}, {PMID:Payne 1998:9443872}, {PMID:Downes 1999:10532447}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515 G>A (p.Arg172Gln) [Payne and Downes]; p.Arg172Gln [Wells and Wroblewski]" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762235" "11" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515GA; p.Arg172Gln" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762236" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515GA; p.Arg172Gln" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762237" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "5/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg172Gln" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762238" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "5/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg172Gln" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762239" "21" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "5/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg172Gln" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762240" "21" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "5/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg172Gln" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762241" "21" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "5/103" "{PMID:Boon 2009:19243827}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg172Gln" "" "Germline" "yes" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762242" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "1/62" "{PMID:Smailhodzic 2011:22003107}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515G>A (p.Arg172Gln)" "" "Unknown" "" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762243" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "1/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515G>A; p.Arg172Gln" "" "Unknown" "" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762244" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515G>A; p.Arg172Gln" "" "Unknown" "" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762245" "0" "99" "6" "42689558" "42689558" "subst" "4.06085E-6" "04036" "PRPH2_000034" "g.42689558C>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.515G>A; p.Arg172Gln" "" "Unknown" "" "rs61755793" "0" "" "" "g.42721820C>T" "" "pathogenic (dominant)" "" "0000762246" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762247" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762248" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762249" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762250" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762251" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762252" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762253" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762254" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762255" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2 cases" "{PMID:Grüning 1994:8019570 }, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC > GTC point mutation in codon 173; Asp-173-Val" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762256" "10" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762257" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762258" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762259" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762260" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762261" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762262" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762263" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762264" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762265" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762266" "21" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762267" "11" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762268" "11" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762269" "11" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762270" "11" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "15/289" "{PMID:Vilela 1996:8740695}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "GAC>GTC change leading to the substitution of an aspartic acid for valine in codon 173" "" "Germline" "yes" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762271" "0" "77" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/18 cases" "{PMID:de Sousa 2015:26321861}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "c.518A>T; p.Asp173Val" "" "Unknown" "" "rs61755794" "0" "" "" "g.42721817T>A" "" "likely pathogenic (dominant)" "" "0000762272" "0" "57" "6" "42689555" "42689555" "subst" "0" "04036" "PRPH2_000249" "g.42689555T>A" "1/2701" "{PMID:Gao 2019:31054281}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-BsrI" "c.518A>T; p.Asp173Val" "" "Unknown" "" "rs61755794" "0" "" "" "g.42721817T>A" "" "VUS" "" "0000762273" "0" "77" "6" "42689553" "42689553" "subst" "4.06075E-6" "04036" "PRPH2_000033" "g.42689553A>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689553A>T; p.(Trp174Arg)" "" "Germline" "" "" "0" "" "" "g.42721815A>T" "" "likely pathogenic (dominant)" "" "0000762274" "0" "77" "6" "42689553" "42689553" "subst" "4.06075E-6" "04036" "PRPH2_000033" "g.42689553A>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689553A>T; p.(Trp174Arg)" "" "Germline" "" "" "0" "" "" "g.42721815A>T" "" "likely pathogenic (dominant)" "" "0000762275" "0" "55" "6" "42689552" "42689552" "subst" "0" "04036" "PRPH2_000248" "g.42689552C>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.521G>C; p.Trp174Ser" "" "Unknown" "" "" "0" "" "" "g.42721814C>G" "" "VUS" "" "0000762276" "0" "55" "6" "42689551" "42689551" "subst" "0" "04036" "PRPH2_000247" "g.42689551C>G" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.522G>C; p.W174C" "" "Unknown" "" "rs1064793237" "0" "" "" "g.42721813C>G" "" "VUS" "" "0000762277" "0" "75" "6" "42689551" "42689551" "subst" "0" "04036" "PRPH2_000247" "g.42689551C>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.522G>C; p.Trp174Cys" "" "Unknown" "" "rs1064793237" "0" "" "" "g.42721813C>G" "" "likely pathogenic (dominant)" "" "0000762278" "3" "99" "6" "42689551" "42689551" "subst" "0" "04036" "PRPH2_000130" "g.42689551C>T" "2/63" "{PMID:Consugar 2015:25412400}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Trp174*" "" "Germline" "" "" "0" "" "" "g.42721813C>T" "" "pathogenic" "" "0000762279" "0" "77" "6" "42689540" "42689540" "subst" "0" "04036" "PRPH2_000103" "g.42689540T>C" "1/298 cases" "{PMID:Sun 2015:26747767}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.533A>G; p.Gln178Arg" "" "Unknown" "" "rs61755795" "0" "" "" "g.42721802T>C" "" "likely pathogenic (dominant)" "" "0000762280" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762281" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762282" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762283" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762284" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762285" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762286" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762287" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762288" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762289" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Bareil 2000:10862101}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; W179R" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762290" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; p.Trp179Arg" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762291" "21" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; p.Trp179Arg" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762292" "20" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; p.Trp179Arg" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762293" "20" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; p.Trp179Arg" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762294" "11" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; p.Trp179Arg" "" "Germline" "yes" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762295" "0" "97" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "1/86" "{PMID:Van Cauwenbergh 2017:28076437}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; p.(Trp179Arg)" "" "Germline" "" "rs61755796" "0" "" "" "g.42721800A>G" "" "pathogenic (dominant)" "" "0000762296" "0" "77" "6" "42689538" "42689538" "subst" "0" "04036" "PRPH2_000144" "g.42689538A>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MspA1I+" "c.535T>C; p.Trp179Arg" "" "Unknown" "" "rs61755796" "0" "" "" "g.42721800A>G" "" "likely pathogenic (dominant)" "" "0000762297" "0" "77" "6" "42689537" "42689537" "subst" "0" "04036" "PRPH2_000246" "g.42689537C>A" "1/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.536G>T p.(Trp179Leu)" "" "Unknown" "yes" "" "0" "" "" "g.42721799C>A" "" "likely pathogenic (dominant)" "" "0000762298" "0" "77" "6" "42689536" "42689536" "subst" "4.06108E-6" "04036" "PRPH2_000245" "g.42689536C>A" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.537G>T; p.Trp179Cys" "" "Unknown" "" "rs61755796" "0" "" "" "g.42721798C>A" "" "likely pathogenic (dominant)" "" "0000762299" "0" "55" "6" "42689533" "42689533" "subst" "0" "04036" "PRPH2_000244" "g.42689533G>C" "1/47 families" "{PMID:Bayés 1996:9007328}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C780G; lle180Met" "" "Unknown" "no" "" "0" "" "" "g.42721795G>C" "" "VUS" "" "0000762300" "10" "77" "6" "42689522" "42689522" "subst" "0" "04036" "PRPH2_000243" "g.42689522T>G" "1/60 cases" "{PMID:Nakazawa 1996:8540854}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr184Ser" "" "Germline" "yes" "rs62645926" "0" "" "" "g.42721784T>G" "" "likely pathogenic" "" "0000762301" "11" "77" "6" "42689522" "42689522" "subst" "0" "04036" "PRPH2_000243" "g.42689522T>G" "1/60 cases" "{PMID:Nakazawa 1996:8540854}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr184Ser" "" "Germline" "yes" "rs62645926" "0" "" "" "g.42721784T>G" "" "likely pathogenic" "" "0000762302" "20" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Kajiwara 1994:8202715}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762303" "11" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762304" "11" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Kajiwara 1994:8202715}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762305" "0" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Unknown" "" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762306" "20" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1994:8202715}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762307" "10" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1994:8202715}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762308" "10" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1994:8202715}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762309" "10" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1994:8202715}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762310" "11" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1994:8202715}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762311" "21" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Kajiwara 1994:8202715}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762312" "11" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Kajiwara 1994:8202715}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762313" "11" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Kajiwara 1994:8202715}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762314" "0" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762315" "11" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762316" "11" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762317" "11" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "p.Leu185Pro" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762318" "0" "97" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "2/179" "{PMID:Wang 2013:23847139}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "c.554T>C, p.L185P" "" "Unknown" "no" "rs121918563" "0" "" "" "g.42721781A>G" "" "pathogenic" "" "0000762319" "3" "97" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "2/179" "{PMID:Wang 2013:23847139}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "c.554T>C, p.L185P" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "pathogenic" "" "0000762320" "0" "97" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "2/179" "{PMID:Wang 2013:23847139}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "c.554T>C, p.L185P" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "pathogenic" "" "0000762321" "0" "97" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "2/179" "{PMID:Wang 2013:23847139}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "c.554T>C, p.L185P" "" "Germline" "yes" "rs121918563" "0" "" "" "g.42721781A>G" "" "pathogenic" "" "0000762322" "0" "57" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "3/60" "{PMID:Coussa 2015:26720483}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "c.554T>C p.L185P" "" "Unknown" "" "rs121918563" "0" "" "" "g.42721781A>G" "" "VUS" "" "0000762323" "0" "57" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "3/60" "{PMID:Coussa 2015:26720483}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "c.554T>C p.L185P" "" "Unknown" "" "rs121918563" "0" "" "" "g.42721781A>G" "" "VUS" "" "0000762324" "0" "57" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "3/60" "{PMID:Coussa 2015:26720483}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "c.554T>C p.L185P" "" "Unknown" "" "rs121918563" "0" "" "" "g.42721781A>G" "" "VUS" "" "0000762325" "0" "77" "6" "42689519" "42689519" "subst" "8.12427E-6" "04036" "PRPH2_000004" "g.42689519A>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MvaI" "c.554T>C; p.Leu185Pro" "" "Unknown" "" "rs121918563" "0" "" "" "g.42721781A>G" "" "likely pathogenic (dominant)" "" "0000762326" "0" "95" "6" "42689517" "42689517" "subst" "0" "04036" "PRPH2_000242" "g.42689517C>T" "5/66" "{PMID:Almoguera 2015:26197217}, {PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.556G>A; p.Asp186Asn" "" "Germline" "yes" "" "0" "" "" "g.42721779C>T" "" "pathogenic (dominant)" "" "0000762327" "0" "95" "6" "42689517" "42689517" "subst" "0" "04036" "PRPH2_000242" "g.42689517C>T" "5/66" "{PMID:Almoguera 2015:26197217}, {PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.556G>A; p.Asp186Asn" "" "Germline" "yes" "" "0" "" "" "g.42721779C>T" "" "pathogenic (dominant)" "" "0000762328" "0" "95" "6" "42689517" "42689517" "subst" "0" "04036" "PRPH2_000242" "g.42689517C>T" "5/66" "{PMID:Almoguera 2015:26197217}, {PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.556G>A; p.Asp186Asn" "" "Germline" "yes" "" "0" "" "" "g.42721779C>T" "" "pathogenic (dominant)" "" "0000762329" "0" "95" "6" "42689517" "42689517" "subst" "0" "04036" "PRPH2_000242" "g.42689517C>T" "5/66" "{PMID:Almoguera 2015:26197217}, {PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.556G>A; p.Asp186Asn" "" "Germline" "yes" "" "0" "" "" "g.42721779C>T" "" "pathogenic (dominant)" "" "0000762330" "0" "95" "6" "42689517" "42689517" "subst" "0" "04036" "PRPH2_000242" "g.42689517C>T" "5/66" "{PMID:Almoguera 2015:26197217}, {PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.556G>A; p.Asp186Asn" "" "Germline" "yes" "" "0" "" "" "g.42721779C>T" "" "pathogenic (dominant)" "" "0000762331" "0" "55" "6" "42689517" "42689517" "subst" "0" "04036" "PRPH2_000242" "g.42689517C>T" "1/52 families" "{PMID:Kohl 2012:22183351} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.556G > A p.Asp186Asn" "" "Germline" "" "" "0" "" "" "g.42721779C>T" "" "VUS" "" "0000762332" "10" "79" "6" "42689491" "42689491" "subst" "0" "04036" "PRPH2_000239" "g.42689491C>G" "5/8" "{PMID:Khoubian 2005:16340530}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS1 +1 G > C" "" "Germline" "yes" "" "0" "" "" "g.42721753C>G" "" "likely pathogenic (dominant)" "" "0000762333" "21" "79" "6" "42689491" "42689491" "subst" "0" "04036" "PRPH2_000239" "g.42689491C>G" "5/8" "{PMID:Khoubian 2005:16340530}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS1 +1 G > C" "" "Germline" "yes" "" "0" "" "" "g.42721753C>G" "" "likely pathogenic (dominant)" "" "0000762334" "21" "79" "6" "42689491" "42689491" "subst" "0" "04036" "PRPH2_000239" "g.42689491C>G" "5/8" "{PMID:Khoubian 2005:16340530}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS1 +1 G > C" "" "Germline" "yes" "" "0" "" "" "g.42721753C>G" "" "likely pathogenic (dominant)" "" "0000762335" "21" "79" "6" "42689491" "42689491" "subst" "0" "04036" "PRPH2_000239" "g.42689491C>G" "5/8" "{PMID:Khoubian 2005:16340530}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS1 +1 G > C" "" "Germline" "yes" "" "0" "" "" "g.42721753C>G" "" "likely pathogenic (dominant)" "" "0000762336" "21" "79" "6" "42689491" "42689491" "subst" "0" "04036" "PRPH2_000239" "g.42689491C>G" "5/8" "{PMID:Khoubian 2005:16340530}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS1 +1 G > C" "" "Germline" "yes" "" "0" "" "" "g.42721753C>G" "" "likely pathogenic (dominant)" "" "0000762337" "0" "99" "6" "42689491" "42689491" "subst" "0" "04036" "PRPH2_000240" "g.42689491C>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.581+1G>A; p.?" "" "Unknown" "" "" "0" "" "" "g.42721753C>T" "" "pathogenic (dominant)" "" "0000762338" "0" "55" "6" "42689488" "42689488" "dup" "0" "04036" "PRPH2_000238" "g.42689488dup" "2/147" "{PMID:Boon 2007:17504850} = Radboudumc genome diagnostics, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689488dup; p.(?)" "" "Germline" "yes" "" "0" "" "" "g.42721750dup" "" "VUS" "" "0000762339" "0" "55" "6" "42689488" "42689488" "dup" "0" "04036" "PRPH2_000238" "g.42689488dup" "2/147" "{PMID:Boon 2007:17504850} = Radboudumc genome diagnostics, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42689488dup; p.(?)" "" "Germline" "yes" "" "0" "" "" "g.42721750dup" "" "VUS" "" "0000762340" "0" "99" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582-1G>A; p.?" "" "Unknown" "" "" "0" "" "" "g.42704612C>T" "" "pathogenic (dominant)" "" "0000762341" "0" "99" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672350C>T; p.(?)" "" "Germline" "" "" "0" "" "" "g.42704612C>T" "" "pathogenic (dominant)" "" "0000762342" "0" "59" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "1/39" "{PMID:Duncker 2015:26024099} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582-1G>A" "" "Unknown" "" "" "0" "" "" "g.42704612C>T" "" "VUS" "" "0000762343" "0" "99" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "1/59 families" "{PMID:Fernandez-San Jose 2015:25698705} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582-1G>A" "" "Germline" "yes" "" "0" "" "" "g.42704612C>T" "" "pathogenic (dominant)" "" "0000762344" "0" "99" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "1/59 families" "{PMID:Fernandez-San Jose 2015:25698705} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582-1G>A" "" "Germline" "yes" "" "0" "" "" "g.42704612C>T" "" "pathogenic (dominant)" "" "0000762345" "0" "99" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "2/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582–1G>A" "" "Germline" "" "" "0" "" "" "g.42704612C>T" "" "pathogenic (dominant)" "" "0000762346" "0" "79" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "2/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582–1G>A" "" "Germline" "" "" "0" "" "" "g.42704612C>T" "" "likely pathogenic (dominant)" "" "0000762347" "0" "79" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "1/79" "{PMID:Wolock 2019:30926958}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582-1G>A" "" "Unknown" "" "" "0" "" "" "g.42704612C>T" "" "likely pathogenic (dominant)" "" "0000762348" "0" "79" "6" "42672350" "42672350" "subst" "0" "04036" "PRPH2_000031" "g.42672350C>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582-1G>A" "" "Unknown" "" "" "0" "" "" "g.42704612C>T" "" "likely pathogenic (dominant)" "" "0000762349" "0" "99" "6" "42672351" "42672351" "subst" "0" "04036" "PRPH2_000032" "g.42672351T>A" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672351T>A; p.(?)" "" "Germline" "" "" "0" "" "" "g.42704613T>A" "" "pathogenic (dominant)" "" "0000762350" "0" "99" "6" "42672351" "42672351" "subst" "0" "04036" "PRPH2_000032" "g.42672351T>A" "1/3 families" "{PMID:Cheng 2019:30892800}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582‐2A>T" "" "De novo" "no" "" "0" "" "" "g.42704613T>A" "" "pathogenic (dominant)" "" "0000762351" "0" "59" "6" "42689502" "42689502" "subst" "0" "04036" "PRPH2_000123" "g.42689502C>A" "2/39" "{PMID:Duncker 2015:26024099} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "E191X" "" "Germline" "yes" "" "0" "" "" "g.42721764C>A" "" "VUS" "" "0000762352" "11" "59" "6" "42689502" "42689502" "subst" "0" "04036" "PRPH2_000123" "g.42689502C>A" "2/39" "{PMID:Duncker 2015:26024099} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "E191X" "" "Germline" "yes" "" "0" "" "" "g.42721764C>A" "" "VUS" "" "0000762353" "0" "79" "6" "42689495" "42689496" "del" "0" "04036" "PRPH2_000241" "g.42689495_42689496del" "2/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "K193del" "" "Germline" "yes" "rs62645929" "0" "" "" "g.42721757_42721758del" "" "likely pathogenic (dominant)" "" "0000762354" "0" "79" "6" "42689495" "42689496" "del" "0" "04036" "PRPH2_000241" "g.42689495_42689496del" "2/27" "{PMID:Jacobson 1996:8675410}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "K193del" "" "Germline" "yes" "rs62645929" "0" "" "" "g.42721757_42721758del" "" "likely pathogenic (dominant)" "" "0000762355" "20" "77" "6" "42672349" "42672349" "subst" "0" "04036" "PRPH2_000237" "g.42672349A>T" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582T>A; p.Asp194Glu" "" "Germline" "no" "" "0" "" "" "g.42704611A>T" "" "likely pathogenic (dominant)" "" "0000762356" "0" "99" "6" "0" "0" "" "0" "04036" "LAMA2_000000" "g.?" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.582_828del; p.D194Efs*2" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000762357" "0" "99" "6" "42672348" "42672348" "subst" "4.06954E-6" "04036" "PRPH2_000235" "g.42672348G>A" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.583C>T; p.R195*" "" "Unknown" "" "" "0" "" "" "g.42704610G>A" "" "pathogenic (dominant)" "" "0000762358" "0" "99" "6" "42672348" "42672348" "subst" "4.06954E-6" "04036" "PRPH2_000235" "g.42672348G>A" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.583C>T; p.R195*" "" "Unknown" "" "" "0" "" "" "g.42704610G>A" "" "pathogenic (dominant)" "" "0000762359" "0" "99" "6" "42672348" "42672348" "subst" "4.06954E-6" "04036" "PRPH2_000235" "g.42672348G>A" "1/213" "{PMID:Alapati 2014:25082885} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.583C>T; p.Arg195*" "" "Unknown" "" "" "0" "" "" "g.42704610G>A" "" "pathogenic (dominant)" "" "0000762360" "0" "79" "6" "42672348" "42672348" "subst" "4.06954E-6" "04036" "PRPH2_000235" "g.42672348G>A" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.583C>T; p.Arg195*" "" "Unknown" "" "" "0" "" "" "g.42704610G>A" "" "likely pathogenic (dominant)" "" "0000762361" "0" "77" "6" "42672348" "42672348" "subst" "0" "04036" "PRPH2_000236" "g.42672348G>C" "1/52" "{PMID:Kohl 2012:22183351}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.583C > G; p.Arg195Gly" "" "Unknown" "" "" "0" "" "" "g.42704610G>C" "" "likely pathogenic (dominant)" "" "0000762362" "0" "77" "6" "42672347" "42672347" "subst" "0" "04036" "PRPH2_000030" "g.42672347C>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>A; p.R195Q" "" "Unknown" "" "rs121918567" "0" "" "" "g.42704609C>T" "" "likely pathogenic (dominant)" "" "0000762363" "0" "77" "6" "42672347" "42672347" "subst" "0" "04036" "PRPH2_000030" "g.42672347C>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672347C>T; p.(Arg195Gln)" "" "Germline" "" "rs121918567" "0" "" "" "g.42704609C>T" "" "likely pathogenic (dominant)" "" "0000762364" "0" "77" "6" "42672347" "42672347" "subst" "0" "04036" "PRPH2_000030" "g.42672347C>T" "1/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>A; p.Arg195Gln" "" "Unknown" "" "rs121918567" "0" "" "" "g.42704609C>T" "" "likely pathogenic (dominant)" "" "0000762365" "0" "77" "6" "42672347" "42672347" "subst" "0" "04036" "PRPH2_000030" "g.42672347C>T" "1/3 cases" "{PMID:Palma 2019:30726412} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>A; p.Arg195Gln" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>T" "" "likely pathogenic (dominant)" "" "0000762366" "0" "77" "6" "42672347" "42672347" "subst" "0" "04036" "PRPH2_000030" "g.42672347C>T" "1/3 cases" "{PMID:Palma 2019:30726412} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>A; p.Arg195Gln" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>T" "" "likely pathogenic (dominant)" "" "0000762367" "0" "57" "6" "42672347" "42672347" "subst" "0" "04036" "PRPH2_000030" "g.42672347C>T" "1/79" "{PMID:Wolock 2019:30926958}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>A; p.Arg195Gln" "" "Unknown" "" "rs121918567" "0" "" "" "g.42704609C>T" "" "VUS" "" "0000762368" "0" "77" "6" "42672347" "42672347" "subst" "0" "04036" "PRPH2_000030" "g.42672347C>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>A; p.Arg195Gln" "" "Unknown" "" "rs121918567" "0" "" "" "g.42704609C>T" "" "likely pathogenic (dominant)" "" "0000762369" "0" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>T; p.R195L" "" "Unknown" "" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762370" "10" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "3/3 families" "{PMID:Yanagihashi 2003:14557183}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762371" "10" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "3/3 families" "{PMID:Yanagihashi 2003:14557183}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762372" "10" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "3/3 families" "{PMID:Yanagihashi 2003:14557183}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762373" "20" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762374" "20" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762375" "20" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762376" "20" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762377" "20" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762378" "11" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762379" "11" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762380" "11" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762381" "11" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "9/16 families" "{PMID:Keilhauer 2006:16832026}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762382" "10" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.821 CGA>CTA; p.Arg195Leu" "" "Germline" "" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762383" "0" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "5/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c. 584 G>T; p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762384" "0" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "5/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c. 584 G>T; p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762385" "20" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "5/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c. 584 G>T; p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762386" "21" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "5/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c. 584 G>T; p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762387" "0" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "5/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.R195L (c.584 G>T)" "" "De novo" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762388" "0" "97" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "1/18 cases" "{PMID:de Sousa 2015:26321861}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>T; p.Arg195Leu" "" "Unknown" "" "rs121918567" "0" "" "" "g.42704609C>A" "" "pathogenic (dominant)" "" "0000762389" "0" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "4/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.584G>T; p.Arg195Leu" "" "Germline" "" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762390" "10" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762391" "10" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762392" "10" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762393" "10" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762394" "11" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762395" "11" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762396" "11" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762397" "21" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762398" "20" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762399" "21" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762400" "21" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "yes" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762401" "21" "77" "6" "42672347" "42672347" "subst" "4.06838E-6" "04036" "PRPH2_000234" "g.42672347C>A" "12/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Arg195Leu" "" "Germline" "" "rs121918567" "0" "" "" "g.42704609C>A" "" "likely pathogenic (dominant)" "" "0000762402" "0" "55" "6" "42672345" "42672345" "subst" "0" "04036" "PRPH2_000233" "g.42672345T>A" "1/68" "{PMID:Avela 2019:31087526}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.586A>T (p.Ile196Phe)" "" "Unknown" "" "" "0" "" "" "g.42704607T>A" "" "VUS" "" "0000762403" "0" "77" "6" "42672344" "42672344" "subst" "0" "04036" "PRPH2_000232" "g.42672344A>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.587T>A; p.Ile196Asn" "" "Unknown" "" "rs1131691378" "0" "" "" "g.42704606A>T" "" "likely pathogenic (dominant)" "" "0000762404" "0" "79" "6" "42672342" "42672343" "dup" "0" "04036" "PRPH2_000231" "g.42672342_42672343dup" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.588_589dupCA; p.Lys197Thrfs*60" "" "Unknown" "" "" "0" "" "" "g.42704604_42704605dup" "" "likely pathogenic (dominant)" "" "0000762405" "20" "57" "6" "42672342" "42672342" "subst" "0" "04036" "PRPH2_000062" "g.42672342T>C" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Lysl97Glu" "" "Germline" "yes" "rs62645931" "0" "" "" "g.42704604T>C" "" "VUS" "" "0000762406" "20" "57" "6" "42672342" "42672342" "subst" "0" "04036" "PRPH2_000062" "g.42672342T>C" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Lysl97Glu" "" "Germline" "yes" "rs62645931" "0" "" "" "g.42704604T>C" "" "VUS" "" "0000762407" "11" "57" "6" "42672342" "42672342" "subst" "0" "04036" "PRPH2_000062" "g.42672342T>C" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Lysl97Glu" "" "Germline" "yes" "rs62645931" "0" "" "" "g.42704604T>C" "" "VUS" "" "0000762408" "11" "57" "6" "42672342" "42672342" "subst" "0" "04036" "PRPH2_000062" "g.42672342T>C" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Lysl97Glu" "" "Germline" "yes" "rs62645931" "0" "" "" "g.42704604T>C" "" "VUS" "" "0000762409" "10" "97" "6" "42672342" "42672342" "subst" "0" "04036" "PRPH2_000062" "g.42672342T>C" "2/76" "{PMID:Oishi 2016:26957898}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.589A>G; p.K197E" "" "Germline" "yes" "rs62645931" "0" "" "" "g.42704604T>C" "" "pathogenic (dominant)" "" "0000762410" "10" "97" "6" "42672342" "42672342" "subst" "0" "04036" "PRPH2_000062" "g.42672342T>C" "2/76" "{PMID:Oishi 2016:26957898}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.589A>G; p.K197E" "" "Germline" "yes" "rs62645931" "0" "" "" "g.42704604T>C" "" "pathogenic (dominant)" "" "0000762411" "0" "99" "6" "42672337" "42672337" "subst" "0" "04036" "PRPH2_000092" "g.42672337G>C" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.594C>G; p.Ser198Arg" "" "Germline" "no" "rs375978676" "0" "" "" "g.42704599G>C" "" "pathogenic (dominant)" "" "0000762412" "0" "99" "6" "42672337" "42672337" "subst" "0" "04036" "PRPH2_000092" "g.42672337G>C" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.594C>G; p.Ser198Arg" "" "Germline" "yes" "rs375978676" "0" "" "" "g.42704599G>C" "" "pathogenic (dominant)" "" "0000762413" "21" "99" "6" "42672337" "42672337" "subst" "0" "04036" "PRPH2_000092" "g.42672337G>C" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.594C>G; p.Ser198Arg" "" "Germline" "yes" "rs375978676" "0" "" "" "g.42704599G>C" "" "pathogenic (dominant)" "" "0000762414" "11" "99" "6" "42672337" "42672337" "subst" "0" "04036" "PRPH2_000092" "g.42672337G>C" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.594C>G; p.Ser198Arg" "" "Germline" "yes" "rs375978676" "0" "" "" "g.42704599G>C" "" "pathogenic (dominant)" "" "0000762415" "11" "99" "6" "42672337" "42672337" "subst" "0" "04036" "PRPH2_000092" "g.42672337G>C" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.594C>G; p.Ser198Arg" "" "Germline" "yes" "rs375978676" "0" "" "" "g.42704599G>C" "" "pathogenic (dominant)" "" "0000762416" "0" "55" "6" "42672336" "42672336" "subst" "0" "04036" "PRPH2_000230" "g.42672336T>C" "" "{PMID:Kitiratschky 2011:21405999}, {PMID:Kohl 2012:22183351} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.595A > G p.Asn199Asp" "" "Unknown" "" "" "0" "" "" "g.42704598T>C" "" "VUS" "" "0000762417" "0" "79" "6" "42672334" "42672334" "del" "0" "04036" "PRPH2_000229" "g.42672334del" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.597delC; p.Asn199Lysfs*57" "" "Unknown" "" "" "0" "" "" "g.42704596del" "" "likely pathogenic (dominant)" "" "0000762418" "0" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762419" "0" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762420" "10" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762421" "10" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762422" "21" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762423" "11" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762424" "11" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762425" "11" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762426" "11" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762427" "11" "77" "6" "42672332" "42672332" "subst" "0" "04036" "PRPH2_000228" "g.42672332A>T" "10/15 families" "{PMID:Nakazawa 1996:8912967}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "200 (GTG-GAG); Val200Glu" "" "Germline" "yes" "rs62645932" "0" "" "" "g.42704594A>T" "" "likely pathogenic (dominant)" "" "0000762428" "0" "79" "6" "42672311" "42672324" "del" "0" "04036" "PRPH2_000227" "g.42672311_42672324del" "3/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.607_620delCGGTACCTGGTGGA; p.Arg203fsX8" "" "Germline" "yes" "" "0" "" "" "g.42704573_42704586del" "" "likely pathogenic (dominant)" "" "0000762429" "21" "79" "6" "42672311" "42672324" "del" "0" "04036" "PRPH2_000227" "g.42672311_42672324del" "3/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.607_620delCGGTACCTGGTGGA; p.Arg203fsX8" "" "Germline" "yes" "" "0" "" "" "g.42704573_42704586del" "" "likely pathogenic (dominant)" "" "0000762430" "21" "79" "6" "42672311" "42672324" "del" "0" "04036" "PRPH2_000227" "g.42672311_42672324del" "3/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.607_620delCGGTACCTGGTGGA; p.Arg203fsX8" "" "Germline" "yes" "" "0" "" "" "g.42704573_42704586del" "" "likely pathogenic (dominant)" "" "0000762431" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762432" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762433" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762434" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762435" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762436" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762437" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762438" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762439" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762440" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762441" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762442" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762443" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762444" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762445" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762446" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762447" "0" "99" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857del17" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "pathogenic (dominant)" "" "0000762448" "0" "79" "6" "42672310" "42672326" "del" "0" "04036" "PRPH2_000097" "g.42672310_42672326del" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.846_862 del; p.Tyr204Pro fsX211" "" "Germline" "yes" "rs281865372" "0" "" "" "g.42704572_42704588del" "" "likely pathogenic (dominant)" "" "0000762449" "0" "55" "6" "42672321" "42672321" "subst" "0" "04036" "PRPH2_000137" "g.42672321A>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.610T>C; p.Tyr204His" "" "Unknown" "" "" "0" "" "" "g.42704583A>G" "" "VUS" "" "0000762450" "0" "99" "6" "42672319" "42672319" "subst" "0" "04036" "PRPH2_000091" "g.42672319G>C" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.612C>A; p.Tyr204*" "" "Unknown" "" "rs1554269081" "0" "" "" "g.42704581G>C" "" "pathogenic (dominant)" "" "0000762451" "0" "99" "6" "42672319" "42672319" "subst" "0" "04036" "PRPH2_000091" "g.42672319G>C" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.612C>A; p.Tyr204*" "" "Unknown" "" "rs1554269081" "0" "" "" "g.42704581G>C" "" "pathogenic (dominant)" "" "0000762452" "0" "99" "6" "42672319" "42672319" "subst" "0" "04036" "PRPH2_000091" "g.42672319G>C" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.612C>A; p.Tyr204*" "" "Unknown" "" "rs1554269081" "0" "" "" "g.42704581G>C" "" "pathogenic (dominant)" "" "0000762453" "0" "99" "6" "42672319" "42672319" "subst" "0" "04036" "PRPH2_000091" "g.42672319G>C" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.612C>A; p.Tyr204*" "" "Unknown" "" "rs1554269081" "0" "" "" "g.42704581G>C" "" "pathogenic (dominant)" "" "0000762454" "0" "55" "6" "42672317" "42672317" "subst" "0" "04036" "PRPH2_000029" "g.42672317A>G" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672317A>G; p.(Leu205Pro)" "" "Germline" "" "" "0" "" "" "g.42704579A>G" "" "VUS" "" "0000762455" "0" "55" "6" "42672317" "42672317" "subst" "0" "04036" "PRPH2_000029" "g.42672317A>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.614T>C; p.Leu205Pro" "" "Unknown" "" "" "0" "" "" "g.42704579A>G" "" "VUS" "" "0000762456" "10" "77" "6" "42672307" "42672315" "del" "0" "04036" "PRPH2_000223" "g.42672307_42672315del" "2/3 (case serie/family study)" "{PMID:Kalyanasundaram 2009:18356930}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.618–626 del9" "" "Germline" "yes" "rs62645934" "0" "" "" "g.42704569_42704577del" "" "likely pathogenic (dominant)" "" "0000762457" "21" "77" "6" "42672307" "42672315" "del" "0" "04036" "PRPH2_000223" "g.42672307_42672315del" "2/3 (case serie/family study)" "{PMID:Kalyanasundaram 2009:18356930}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.618–626 del9" "" "Germline" "yes" "rs62645934" "0" "" "" "g.42704569_42704577del" "" "likely pathogenic (dominant)" "" "0000762458" "0" "55" "6" "42672311" "42672311" "subst" "0" "04036" "PRPH2_000226" "g.42672311T>C" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.620A>G; p.Asp207Gly" "" "Unknown" "" "" "0" "" "" "g.42704573T>C" "" "VUS" "" "0000762459" "0" "59" "6" "42672309" "42672309" "dup" "0" "04036" "PRPH2_000224" "g.42672309dup" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Gly208insG" "" "Germline" "yes" "" "0" "" "" "g.42704571dup" "" "VUS" "" "0000762460" "0" "59" "6" "42672309" "42672309" "dup" "0" "04036" "PRPH2_000224" "g.42672309dup" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Gly208insG" "" "Germline" "yes" "" "0" "" "" "g.42704571dup" "" "VUS" "" "0000762461" "0" "77" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "4/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.623G>A; p.G208D" "" "Unknown" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic (dominant)" "" "0000762462" "0" "77" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "4/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "Chr6(GRCh37):g.42672308C>T; p.(Gly208Asp)" "" "Germline" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic (dominant)" "" "0000762463" "0" "77" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "4/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "Chr6(GRCh37):g.42672308C>T; p.(Gly208Asp)" "" "Germline" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic (dominant)" "" "0000762464" "0" "77" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "G623A; G208D" "" "Unknown" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic (dominant)" "" "0000762465" "0" "57" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "Gly208Asp" "" "Germline" "yes" "rs139185976" "0" "" "" "g.42704570C>T" "" "VUS" "" "0000762466" "21" "57" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "Gly208Asp" "" "Germline" "yes" "rs139185976" "0" "" "" "g.42704570C>T" "" "VUS" "" "0000762467" "0" "97" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.GGC(r)GAC; G208D" "" "Germline" "yes" "rs139185976" "0" "" "" "g.42704570C>T" "" "pathogenic (dominant)" "" "0000762468" "0" "97" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.GGC(r)GAC; G208D" "" "Germline" "yes" "rs139185976" "0" "" "" "g.42704570C>T" "" "pathogenic (dominant)" "" "0000762469" "0" "97" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.GGC(r)GAC; G208D" "" "Germline" "yes" "rs139185976" "0" "" "" "g.42704570C>T" "" "pathogenic (dominant)" "" "0000762470" "0" "97" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/93 cases" "{PMID:Trujillo 1998:10627133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.GGC(r)GAC; G208D" "" "Germline" "yes" "rs139185976" "0" "" "" "g.42704570C>T" "" "pathogenic (dominant)" "" "0000762471" "0" "77" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.860 GGC>GAC; p.Gly208Asp" "" "Unknown" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic (dominant)" "" "0000762472" "0" "57" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/31" "{PMID:Duncan 2011:21071739}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.623G>A (Gly208Asp)" "" "Unknown" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "VUS" "" "0000762473" "10" "77" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.623G>A; p.Gly208Asp" "" "Germline" "no" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic (dominant)" "" "0000762474" "0" "77" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.623G>A; p.(Gly208Asp)" "" "Germline" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic (dominant)" "" "0000762475" "3" "97" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/3 cases" "{PMID:Palma 2019:30726412} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "c.623G>A; p.Gly208Asp" "" "Unknown" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "pathogenic" "" "0000762476" "0" "77" "6" "42672308" "42672308" "subst" "4.87424E-5" "04036" "PRPH2_000028" "g.42672308C>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "+MaeII; +AatII; -HgaI" "623G>A ; p.Gly208Asp" "" "Unknown" "" "rs139185976" "0" "" "" "g.42704570C>T" "" "likely pathogenic (dominant)" "" "0000762477" "0" "99" "6" "42672306" "42672306" "subst" "2.84336E-5" "04036" "PRPH2_000109" "g.42672306C>T" "1/45" "{PMID:Coco 2010:20213611}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.V209I (c.625 G>A)" "" "De novo" "" "" "0" "" "" "g.42704568C>T" "" "pathogenic (dominant)" "" "0000762478" "0" "99" "6" "42672305" "42672305" "del" "0" "04036" "PRPH2_000222" "g.42672305del" "1/877" "{PMID:Martin-Merida 2019:30902645}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.626del; p.(Val209fs*47)" "" "De novo" "" "" "0" "" "" "g.42704567del" "" "pathogenic (dominant)" "" "0000762479" "0" "77" "6" "42672303" "42672303" "subst" "0" "04036" "PRPH2_000120" "g.42672303G>A" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.628C>T; p.P210S" "" "Unknown" "" "rs61755797" "0" "" "" "g.42704565G>A" "" "likely pathogenic (dominant)" "" "0000762480" "0" "57" "6" "42672303" "42672303" "subst" "0" "04036" "PRPH2_000120" "g.42672303G>A" "" "{PMID:Kemp 1994:8045710}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C >T first nucleotide codon 210; p.Pro210Ser" "" "Germline" "yes" "rs61755797" "0" "" "" "g.42704565G>A" "" "VUS" "" "0000762481" "21" "57" "6" "42672303" "42672303" "subst" "0" "04036" "PRPH2_000120" "g.42672303G>A" "" "{PMID:Kemp 1994:8045710}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C >T first nucleotide codon 210; p.Pro210Ser" "" "Germline" "yes" "rs61755797" "0" "" "" "g.42704565G>A" "" "VUS" "" "0000762482" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Feist 1994:7519821}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to G transversion in the second nucleotide of codon 210 (proline to arginine)" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762483" "10" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762484" "10" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762485" "10" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762486" "10" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762487" "10" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762488" "11" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762489" "21" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762490" "21" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762491" "11" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762492" "11" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762493" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762494" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762495" "10" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762496" "11" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762497" "11" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762498" "11" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762499" "21" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762500" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762501" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762502" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762503" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762504" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "3/3 cases" "{PMID:Gorin 1995:7862413}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210-Arg" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762505" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "2/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.P210R" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762506" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "2/30" "{PMID:Boon 2007:17504850}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.P210R" "" "Germline" "yes" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762507" "0" "57" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "1/31" "{PMID:Duncan 2011:21071739}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G (Pro210Arg)" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "VUS" "" "0000762508" "0" "57" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Strom 2012:22863181}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.P210R" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "VUS" "" "0000762509" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "1/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.Pro210Arg" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762510" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "7/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.Pro210Arg" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762511" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "7/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.Pro210Arg" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762512" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "7/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.Pro210Arg" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762513" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "7/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.Pro210Arg" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762514" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "7/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.Pro210Arg" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762515" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "7/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.Pro210Arg" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762516" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000101" "g.42672302G>C" "7/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629C>G; p.Pro210Arg" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>C" "" "pathogenic (dominant)" "" "0000762517" "10" "77" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000060" "g.42672302G>A" "1/54" "{PMID:Budu 2001:11485765}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro210Leu" "" "Germline" "" "rs61755798" "0" "" "" "g.42704564G>A" "" "likely pathogenic (dominant)" "" "0000762518" "0" "97" "6" "42672302" "42672302" "subst" "0" "04036" "PRPH2_000060" "g.42672302G>A" "1/63" "{PMID:Consugar 2015:25412400}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.629G>A; p.(Pro210Leu)" "" "Unknown" "" "rs61755798" "0" "" "" "g.42704564G>A" "" "pathogenic (dominant)" "" "0000762519" "20" "79" "6" "42672300" "42672300" "subst" "0" "04036" "PRPH2_000012" "g.42672300A>G" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.631T>C; p.Phe211Leu" "" "Germline" "yes" "" "0" "" "" "g.42704562A>G" "" "likely pathogenic (dominant)" "" "0000762520" "20" "79" "6" "42672300" "42672300" "subst" "0" "04036" "PRPH2_000012" "g.42672300A>G" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.631T>C; p.Phe211Leu" "" "Germline" "yes" "" "0" "" "" "g.42704562A>G" "" "likely pathogenic (dominant)" "" "0000762521" "10" "79" "6" "42672300" "42672300" "subst" "0" "04036" "PRPH2_000012" "g.42672300A>G" "2/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.631T>C; p.Phe211Leu" "" "Germline" "" "" "0" "" "" "g.42704562A>G" "" "likely pathogenic (dominant)" "" "0000762522" "0" "79" "6" "42672300" "42672300" "subst" "0" "04036" "PRPH2_000012" "g.42672300A>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.631T>C; p.Phe211Leu" "" "Unknown" "" "" "0" "" "" "g.42704562A>G" "" "likely pathogenic (dominant)" "" "0000762523" "0" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "Chr6(GRCh37):g.42672298G>T; p.(Phe211Leu)" "" "Germline" "" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762524" "0" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762525" "11" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762526" "11" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762527" "11" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762528" "11" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762529" "11" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762530" "11" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762531" "11" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762532" "21" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "9/12 families" "{PMID:Ekström 1998:9587927}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762533" "10" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "1/58 cases" "{PMID:Souied 1998:9673478}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.Phe211Leu" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762534" "10" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "1/58 cases" "{PMID:Souied 1998:9673478}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "p.Phe211Leu" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762535" "0" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "2/38" "{PMID:Ekström 1998:10193525}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762536" "0" "99" "6" "42672298" "42672298" "subst" "0" "04036" "PRPH2_000026" "g.42672298G>T" "2/38" "{PMID:Ekström 1998:10193525}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "MseI+;PvuII-" "F211L" "" "Germline" "yes" "rs61755799" "0" "" "" "g.42704560G>T" "" "pathogenic (dominant)" "" "0000762537" "0" "77" "6" "42672297" "42672297" "subst" "0" "04036" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Farrar 1992:8449524}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI, -PvuI, -PvuII" "Codon 212: AGC > GGC; p.Ser212Gly" "" "Germline" "yes" "rs61755800" "0" "" "" "g.42704559T>C" "" "likely pathogenic (dominant)" "" "0000762538" "10" "77" "6" "42672297" "42672297" "subst" "0" "04036" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Passerini 2007:18050133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI, -PvuI, -PvuII" "c.874A>G; p. Ser212Gly" "" "Germline" "yes" "rs61755800" "0" "" "" "g.42704559T>C" "" "likely pathogenic (dominant)" "" "0000762539" "21" "77" "6" "42672297" "42672297" "subst" "0" "04036" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Passerini 2007:18050133}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI, -PvuI, -PvuII" "c.874A>G; p. Ser212Gly" "" "Germline" "yes" "rs61755800" "0" "" "" "g.42704559T>C" "" "likely pathogenic (dominant)" "" "0000762540" "0" "97" "6" "42672297" "42672297" "subst" "0" "04036" "PRPH2_000057" "g.42672297T>C" "1/170" "{PMID:Sullivan 2013:23950152}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI, -PvuI, -PvuII" "c.634A>G; p.Ser212Gly" "" "Unknown" "" "rs61755800" "0" "" "" "g.42704559T>C" "" "pathogenic (dominant)" "" "0000762541" "0" "77" "6" "42672297" "42672297" "subst" "0" "04036" "PRPH2_000057" "g.42672297T>C" "2/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI, -PvuI, -PvuII" "c.634A>G; p.(Ser212Gly)" "" "Germline" "" "rs61755800" "0" "" "" "g.42704559T>C" "" "likely pathogenic (dominant)" "" "0000762542" "0" "77" "6" "42672297" "42672297" "subst" "0" "04036" "PRPH2_000057" "g.42672297T>C" "2/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI, -PvuI, -PvuII" "c.634A>G; p.(Ser212Gly)" "" "Germline" "" "rs61755800" "0" "" "" "g.42704559T>C" "" "likely pathogenic (dominant)" "" "0000762543" "0" "77" "6" "42672297" "42672297" "subst" "0" "04036" "PRPH2_000057" "g.42672297T>C" "1/24" "{PMID:Foote 2019:30924848}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI, -PvuI, -PvuII" "c.634A>G; p.Ser212Gly" "" "Unknown" "" "rs61755800" "0" "" "" "g.42704559T>C" "" "likely pathogenic (dominant)" "" "0000762544" "0" "77" "6" "42672297" "42672297" "subst" "0" "04036" "PRPH2_000057" "g.42672297T>C" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI, -PvuI, -PvuII" "c.634A>G; p.Ser212Gly" "" "Unknown" "" "rs61755800" "0" "" "" "g.42704559T>C" "" "likely pathogenic (dominant)" "" "0000762545" "0" "57" "6" "42672296" "42672296" "subst" "0" "04036" "PRPH2_000090" "g.42672296C>G" "1/28" "{PMID:Felbor 1997:9338584}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI" "c.635G>C; p.Ser212Thr" "" "Unknown" "" "rs61755801" "0" "" "" "g.42704558C>G" "" "VUS" "" "0000762546" "0" "57" "6" "42672296" "42672296" "subst" "0" "04036" "PRPH2_000090" "g.42672296C>G" "1/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI" "c.635G>C; p.Ser212Thr" "" "Unknown" "" "rs61755801" "0" "" "" "g.42704558C>G" "" "VUS" "" "0000762547" "0" "97" "6" "42672296" "42672296" "subst" "0" "04036" "PRPH2_000090" "g.42672296C>G" "1/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI" "c.635G>C; p.Ser212Thr" "" "Unknown" "" "rs61755801" "0" "" "" "g.42704558C>G" "" "pathogenic (dominant)" "" "0000762548" "0" "77" "6" "42672296" "42672296" "subst" "0" "04036" "PRPH2_000090" "g.42672296C>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-AluI" "c.635G>C; p.Ser212Thr" "" "Unknown" "" "rs61755801" "0" "" "" "g.42704558C>G" "" "likely pathogenic (dominant)" "" "0000762549" "0" "57" "6" "42672294" "42672294" "subst" "4.06118E-6" "04036" "PRPH2_000221" "g.42672294A>G" "1/300" "{PMID:Payne 1998:9443872}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys213Arg" "" "Germline" "yes" "rs61755802" "0" "" "" "g.42704556A>G" "" "VUS" "" "0000762550" "3" "57" "6" "42672294" "42672294" "subst" "4.06118E-6" "04036" "PRPH2_000221" "g.42672294A>G" "1/179" "{PMID:Wang 2013:23847139}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "637T>C (p.C213R)" "" "Germline" "yes" "rs61755802" "0" "" "" "g.42704556A>G" "" "VUS" "" "0000762551" "0" "57" "6" "42672294" "42672294" "subst" "4.06118E-6" "04036" "PRPH2_000221" "g.42672294A>G" "1/179" "{PMID:Wang 2013:23847139}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "637T>C (p.C213R)" "" "Germline" "yes" "rs61755802" "0" "" "" "g.42704556A>G" "" "VUS" "" "0000762552" "0" "57" "6" "42672294" "42672294" "subst" "4.06118E-6" "04036" "PRPH2_000221" "g.42672294A>G" "1/179" "{PMID:Wang 2013:23847139}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "637T>C (p.C213R)" "" "Germline" "yes" "rs61755802" "0" "" "" "g.42704556A>G" "" "VUS" "" "0000762553" "21" "57" "6" "42672294" "42672294" "subst" "4.06118E-6" "04036" "PRPH2_000221" "g.42672294A>G" "1/179" "{PMID:Wang 2013:23847139}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "637T>C (p.C213R)" "" "Germline" "yes" "rs61755802" "0" "" "" "g.42704556A>G" "" "VUS" "" "0000762554" "0" "57" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000220" "g.42672293C>G" "1/39" "{PMID:Duncker 2015:26024099}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.C213S" "" "Unknown" "" "" "0" "" "" "g.42704555C>G" "" "VUS" "" "0000762555" "0" "77" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000220" "g.42672293C>G" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.638G>C; p.Cys213Ser" "" "Unknown" "" "" "0" "" "" "g.42704555C>G" "" "likely pathogenic (dominant)" "" "0000762556" "0" "77" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000219" "g.42672293C>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "875 TGC>TTT; Cys213Phe" "" "Germline" "yes" "" "0" "" "" "g.42704555C>A" "" "likely pathogenic (dominant)" "" "0000762557" "0" "77" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000219" "g.42672293C>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "876 TGC>TTT; Cys213Phe" "" "Germline" "yes" "" "0" "" "" "g.42704555C>A" "" "likely pathogenic (dominant)" "" "0000762558" "11" "77" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000219" "g.42672293C>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "877 TGC>TTT; Cys213Phe" "" "Germline" "yes" "" "0" "" "" "g.42704555C>A" "" "likely pathogenic (dominant)" "" "0000762559" "21" "77" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000219" "g.42672293C>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "878 TGC>TTT; Cys213Phe" "" "Germline" "yes" "" "0" "" "" "g.42704555C>A" "" "likely pathogenic (dominant)" "" "0000762560" "21" "77" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000219" "g.42672293C>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "879 TGC>TTT; Cys213Phe" "" "Germline" "yes" "" "0" "" "" "g.42704555C>A" "" "likely pathogenic (dominant)" "" "0000762561" "21" "77" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000219" "g.42672293C>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "880 TGC>TTT; Cys213Phe" "" "Germline" "yes" "" "0" "" "" "g.42704555C>A" "" "likely pathogenic (dominant)" "" "0000762562" "10" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "7/17" "{PMID:Zhang 2002:11934323}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys213Tyr" "" "Germline" "yes" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762563" "10" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "7/17" "{PMID:Zhang 2002:11934323}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys213Tyr" "" "Germline" "yes" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762564" "10" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "7/17" "{PMID:Zhang 2002:11934323}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys213Tyr" "" "Germline" "yes" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762565" "10" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "7/17" "{PMID:Zhang 2002:11934323}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys213Tyr" "" "Germline" "yes" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762566" "11" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "7/17" "{PMID:Zhang 2002:11934323}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys213Tyr" "" "Germline" "yes" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762567" "21" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "7/17" "{PMID:Zhang 2002:11934323}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys213Tyr" "" "Germline" "yes" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762568" "21" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "7/17" "{PMID:Zhang 2002:11934323}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys213Tyr" "" "Germline" "yes" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762569" "0" "59" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "1/31" "{PMID:Duncan 2011:21071739}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.637C>A (Cys213Tyr)" "" "Unknown" "" "rs61755803" "0" "" "" "g.42704555C>T" "" "VUS" "" "0000762570" "0" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.638G>A; p.Cys213Tyr" "" "Unknown" "" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762571" "0" "99" "6" "42672293" "42672293" "subst" "0" "04036" "PRPH2_000136" "g.42672293C>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.638G>A; p.Cys213Tyr" "" "Unknown" "" "rs61755803" "0" "" "" "g.42704555C>T" "" "pathogenic (dominant)" "" "0000762572" "10" "77" "6" "42672292" "42672292" "subst" "0" "04036" "PRPH2_000218" "g.42672292G>C" "3/3 families" "{PMID:Lee 2020:32579694}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.639C>G (C213W)" "" "Germline" "yes" "" "0" "" "" "g.42704554G>C" "" "likely pathogenic (dominant)" "" "0000762573" "10" "77" "6" "42672292" "42672292" "subst" "0" "04036" "PRPH2_000218" "g.42672292G>C" "3/3 families" "{PMID:Lee 2020:32579694}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.639C>G (C213W)" "" "Germline" "yes" "" "0" "" "" "g.42704554G>C" "" "likely pathogenic (dominant)" "" "0000762574" "21" "77" "6" "42672292" "42672292" "subst" "0" "04036" "PRPH2_000218" "g.42672292G>C" "3/3 families" "{PMID:Lee 2020:32579694}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.639C>G (C213W)" "" "Germline" "yes" "" "0" "" "" "g.42704554G>C" "" "likely pathogenic (dominant)" "" "0000762575" "0" "97" "6" "42672292" "42672292" "subst" "0" "04036" "PRPH2_000218" "g.42672292G>C" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.639C>G; p.Cys213Trp" "" "Unknown" "" "" "0" "" "" "g.42704554G>C" "" "pathogenic (dominant)" "" "0000762576" "0" "97" "6" "42672292" "42672292" "subst" "0" "04036" "PRPH2_000218" "g.42672292G>C" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.639C>G; p.Cys213Trp" "" "Unknown" "" "" "0" "" "" "g.42704554G>C" "" "pathogenic (dominant)" "" "0000762577" "0" "77" "6" "42672290" "42672290" "subst" "0" "04036" "PRPH2_000217" "g.42672290C>T" "" "{PMID:Trujillo 2001:11139263}, {PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "g.881G>A; p.C214Y (Trujillo) and 878 TGC>TAC; Cys214Tyr (Gamundi)" "" "Germline" "yes" "" "0" "" "" "g.42704552C>T" "" "likely pathogenic (dominant)" "" "0000762578" "0" "77" "6" "42672290" "42672290" "subst" "0" "04036" "PRPH2_000217" "g.42672290C>T" "1/18 cases" "{PMID:de Sousa 2015:26321861}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.641G>A; p.Cys214Tyr" "" "Unknown" "" "" "0" "" "" "g.42704552C>T" "" "likely pathogenic (dominant)" "" "0000762579" "0" "79" "6" "42672290" "42672290" "subst" "0" "04036" "PRPH2_000216" "g.42672290C>G" "1/13 families" "{PMID:Saga 1993:8244346}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys-214-Ser" "" "Germline" "yes" "rs61755804" "0" "" "" "g.42704552C>G" "" "likely pathogenic (dominant)" "" "0000762580" "0" "79" "6" "42672290" "42672290" "subst" "0" "04036" "PRPH2_000216" "g.42672290C>G" "1/13 families" "{PMID:Saga 1993:8244346}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys-214-Ser" "" "Germline" "yes" "rs61755804" "0" "" "" "g.42704552C>G" "" "likely pathogenic (dominant)" "" "0000762581" "0" "79" "6" "42672290" "42672290" "subst" "0" "04036" "PRPH2_000216" "g.42672290C>G" "1/13 families" "{PMID:Saga 1993:8244346}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys-214-Ser" "" "Germline" "yes" "rs61755804" "0" "" "" "g.42704552C>G" "" "likely pathogenic (dominant)" "" "0000762582" "0" "79" "6" "42672289" "42672289" "subst" "0" "04036" "PRPH2_000215" "g.42672289G>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.642C>A; p.Cys214*" "" "Unknown" "" "" "0" "" "" "g.42704551G>T" "" "likely pathogenic (dominant)" "" "0000762583" "0" "77" "6" "42672288" "42672288" "subst" "0" "04036" "PRPH2_000214" "g.42672288T>A" "1/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.643A>T; p.(Asn215Tyr)" "" "Germline" "" "" "0" "" "" "g.42704550T>A" "" "likely pathogenic (dominant)" "" "0000762584" "0" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "6/147 cases" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672285G>A; p.(Pro216Ser)" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762585" "0" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "6/147 cases" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672285G>A; p.(Pro216Ser)" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762586" "0" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "6/147 cases" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672285G>A; p.(Pro216Ser)" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762587" "0" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "6/147 cases" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672285G>A; p.(Pro216Ser)" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762588" "0" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "6/147 cases" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672285G>A; p.(Pro216Ser)" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762589" "21" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "6/147 cases" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672285G>A; p.(Pro216Ser)" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762590" "0" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "6/147 cases" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672285G>A; p.(Pro216Ser)" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762591" "20" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762592" "10" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762593" "21" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762594" "20" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762595" "10" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762596" "10" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762597" "11" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762598" "11" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762599" "11" "57" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Fishman 1994:8058286}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "VUS" "" "0000762600" "0" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Richards 1995:7754251}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762601" "0" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Richards 1995:7754251}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762602" "11" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Richards 1995:7754251}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "C to T transition first nucleotide of codon 216; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762603" "0" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "1/15 cases" "{PMID:Bareil 1997:9361310}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.P216S (c.866C>T)" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762604" "21" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "1/15 cases" "{PMID:Bareil 1997:9361310}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.P216S (c.866C>T)" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762605" "21" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "1/15 cases" "{PMID:Bareil 1997:9361310}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.P216S (c.866C>T)" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762606" "0" "97" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "1/170" "{PMID:Sullivan 2013:23950152}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Unknown" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "" "0000762607" "21" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762608" "10" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762609" "21" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762610" "21" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762611" "10" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762612" "20" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762613" "11" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762614" "11" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762615" "11" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762616" "11" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762617" "21" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762618" "10" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762619" "10" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762620" "20" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762621" "20" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Germline" "yes" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762622" "0" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "1/258 families" "{PMID:Martin-Merida 2018:29847639}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.(Pro216Ser)" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762623" "0" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "1/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216Ser" "" "Germline" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762624" "0" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000025" "g.42672285G>A" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646C>T; p.Pro216Ser" "" "Unknown" "" "rs61755805" "0" "" "" "g.42704547G>A" "" "likely pathogenic (dominant)" "" "0000762625" "21" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000213" "g.42672285G>C" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.647C>G; p.Pro216Ala" "" "Germline" "yes" "" "0" "" "" "g.42704547G>C" "" "likely pathogenic (dominant)" "" "0000762626" "0" "77" "6" "42672285" "42672285" "subst" "0" "04036" "PRPH2_000213" "g.42672285G>C" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.647C>G; p.Pro216Ala" "" "Germline" "yes" "" "0" "" "" "g.42704547G>C" "" "likely pathogenic (dominant)" "" "0000762627" "0" "79" "6" "42672282" "42672285" "delins" "0" "04036" "PRPH2_000212" "g.42672282_42672285delinsCC" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.646_649delinsGG; p.Pro216Glyfs*84" "" "Unknown" "" "" "0" "" "" "g.42704544_42704547delinsCC" "" "likely pathogenic (dominant)" "" "0000762628" "10" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216 Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762629" "10" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216 Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762630" "10" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216 Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762631" "11" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216 Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762632" "10" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216 Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762633" "21" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216 Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762634" "21" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216 Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762635" "11" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro216 Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762636" "0" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "2/4" "{PMID:Yang 2000:11853584}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro216Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762637" "0" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "2/4" "{PMID:Yang 2000:11853584}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro216Leu" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762638" "0" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.647C>T; p.Pro216Leu" "" "Unknown" "" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762639" "0" "95" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/170" "{PMID:Sullivan 2013:23950152}, {PMID:Sullivan 2006:16799052}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.647C>T; p.Pro216Leu" "" "Unknown" "" "rs61755806" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000762640" "0" "75" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "1/86" "{PMID:Van Cauwenbergh 2017:28076437}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.647C>T ; p.(Pro216Leu) S" "" "Germline" "yes" "rs61755806" "0" "" "" "g.42704546G>A" "" "likely pathogenic (dominant)" "" "0000762641" "0" "95" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.647C>T; p.Pro216Leu" "" "Unknown" "" "rs61755806" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000762642" "0" "95" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.647C>T; p.Pro216Leu" "" "Unknown" "" "rs61755806" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000762643" "0" "95" "6" "42672284" "42672284" "subst" "4.06118E-6" "04036" "PRPH2_000089" "g.42672284G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.647C>T; p.Pro216Leu" "" "Unknown" "" "rs61755806" "0" "" "" "g.42704546G>A" "" "pathogenic (dominant)" "" "0000762644" "0" "55" "6" "42672282" "42672282" "subst" "2.03047E-5" "04036" "PRPH2_000211" "g.42672282T>C" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.649A>G; p.Ser217Gly" "" "Unknown" "" "rs767471467" "0" "" "" "g.42704544T>C" "" "VUS" "" "0000762645" "0" "99" "6" "42672279" "42672283" "" "0" "04036" "PRPH2_000309" "g.(42672279_42672283)insN[16]" "1/23" "{PMID:Schorderet 2013:23484092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.S217_dup16bp" "ACMG PVS1, PM1, PM2" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000762646" "0" "55" "6" "42672279" "42672279" "subst" "0" "04036" "PRPH2_000210" "g.42672279A>G" "1/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.652T>C p.(Ser218Pro)" "" "Unknown" "" "rs1582764878" "0" "" "" "g.42704541A>G" "" "VUS" "" "0000762647" "0" "79" "6" "42672278" "42672278" "subst" "0" "04036" "PRPH2_000209" "g.42672278G>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.653C>A; p.Ser218*" "" "Unknown" "" "" "0" "" "" "g.42704540G>T" "" "likely pathogenic (dominant)" "" "0000762648" "0" "77" "6" "42672275" "42672275" "subst" "1.21826E-5" "04036" "PRPH2_000208" "g.42672275G>C" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672275G>A; p.(Pro219Arg)" "" "Germline" "" "" "0" "" "" "g.42704537G>C" "" "likely pathogenic (dominant)" "" "0000762649" "0" "57" "6" "42672275" "42672275" "subst" "1.21826E-5" "04036" "PRPH2_000208" "g.42672275G>C" "1/300" "{PMID:Payne 1998:9443872}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Pro219Arg" "" "Germline" "yes" "" "0" "" "" "g.42704537G>C" "" "VUS" "" "0000762650" "20" "77" "6" "42672274" "42672276" "del" "0" "04036" "PRPH2_000207" "g.42672274_42672276del" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion of codon 219; p.Pro219del" "" "Germline" "yes" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic (dominant)" "" "0000762651" "11" "77" "6" "42672274" "42672276" "del" "0" "04036" "PRPH2_000207" "g.42672274_42672276del" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion of codon 219; p.Pro219del" "" "Germline" "yes" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic (dominant)" "" "0000762652" "11" "77" "6" "42672274" "42672276" "del" "0" "04036" "PRPH2_000207" "g.42672274_42672276del" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion of codon 219; p.Pro219del" "" "Germline" "yes" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic (dominant)" "" "0000762653" "11" "77" "6" "42672274" "42672276" "del" "0" "04036" "PRPH2_000207" "g.42672274_42672276del" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion of codon 219; p.Pro219del" "" "Germline" "yes" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic (dominant)" "" "0000762654" "11" "77" "6" "42672274" "42672276" "del" "0" "04036" "PRPH2_000207" "g.42672274_42672276del" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion of codon 219; p.Pro219del" "" "Germline" "yes" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic (dominant)" "" "0000762655" "11" "77" "6" "42672274" "42672276" "del" "0" "04036" "PRPH2_000207" "g.42672274_42672276del" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion of codon 219; p.Pro219del" "" "Germline" "yes" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic (dominant)" "" "0000762656" "11" "77" "6" "42672274" "42672276" "del" "0" "04036" "PRPH2_000207" "g.42672274_42672276del" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion of codon 219; p.Pro219del" "" "Germline" "yes" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic (dominant)" "" "0000762657" "11" "77" "6" "42672274" "42672276" "del" "0" "04036" "PRPH2_000207" "g.42672274_42672276del" "1/227 cases" "{PMID:Kajiwara 1991:1684223}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "3 bp deletion of codon 219; p.Pro219del" "" "Germline" "yes" "rs61755807" "0" "" "" "g.42704536_42704538del" "" "likely pathogenic (dominant)" "" "0000762658" "0" "77" "6" "42672272" "42672277" "del" "0" "04036" "PRPH2_000020" "g.42672272_42672277del" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672269_42672274del; p.(Arg220_Pro221del)" "" "Germline" "" "" "0" "" "" "g.42704534_42704539del" "" "likely pathogenic (dominant)" "" "0000762659" "0" "99" "6" "42672273" "42672273" "subst" "0" "04036" "PRPH2_000023" "g.42672273G>A" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672273G>A; p.(Arg220Trp)" "" "Germline" "" "rs61755809" "0" "" "" "g.42704535G>A" "" "pathogenic (dominant)" "" "0000762660" "0" "59" "6" "42672273" "42672273" "subst" "0" "04036" "PRPH2_000023" "g.42672273G>A" "1/300" "{PMID:Payne 1998:9443872}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Arg220Trp" "" "Germline" "yes" "rs61755809" "0" "" "" "g.42704535G>A" "" "VUS" "" "0000762661" "0" "79" "6" "42672273" "42672273" "subst" "0" "04036" "PRPH2_000023" "g.42672273G>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "895 CGG>TGG; Arg220Trp" "" "Germline" "yes" "rs61755809" "0" "" "" "g.42704535G>A" "" "likely pathogenic (dominant)" "" "0000762662" "0" "79" "6" "42672273" "42672273" "subst" "0" "04036" "PRPH2_000023" "g.42672273G>A" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "895 CGG>TGG; Arg220Trp" "" "Germline" "yes" "rs61755809" "0" "" "" "g.42704535G>A" "" "likely pathogenic (dominant)" "" "0000762663" "0" "79" "6" "42672273" "42672273" "subst" "0" "04036" "PRPH2_000023" "g.42672273G>A" "1/6" "{PMID:Leroy 2007:16916875}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.658C>T (p.Arg220Trp)" "" "Germline" "" "rs61755809" "0" "" "" "g.42704535G>A" "" "likely pathogenic (dominant)" "" "0000762664" "0" "59" "6" "42672273" "42672273" "subst" "0" "04036" "PRPH2_000023" "g.42672273G>A" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.658C>T; p.Arg220Trp" "" "Unknown" "" "rs61755809" "0" "" "" "g.42704535G>A" "" "VUS" "" "0000762665" "0" "99" "6" "42672273" "42672273" "del" "0" "04036" "PRPH2_000022" "g.42672273del" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672273del; p.(Arg220fs)" "" "Germline" "" "" "0" "" "" "g.42704535del" "" "pathogenic (dominant)" "" "0000762666" "0" "99" "6" "42672273" "42672273" "del" "0" "04036" "PRPH2_000022" "g.42672273del" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672273del; p.(Arg220fs)" "" "Germline" "" "" "0" "" "" "g.42704535del" "" "pathogenic (dominant)" "" "0000762667" "0" "99" "6" "42672272" "42672272" "subst" "8.12189E-6" "04036" "PRPH2_000021" "g.42672272C>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672272C>T; p.(Arg220Gln)" "" "Germline" "" "rs61755810" "0" "" "" "g.42704534C>T" "" "pathogenic (dominant)" "" "0000762668" "0" "79" "6" "42672272" "42672272" "subst" "8.12189E-6" "04036" "PRPH2_000021" "g.42672272C>T" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R220Q" "" "Germline" "" "" "0" "" "" "g.42704534C>T" "" "likely pathogenic (dominant)" "" "0000762669" "0" "79" "6" "42672272" "42672272" "subst" "8.12189E-6" "04036" "PRPH2_000021" "g.42672272C>T" "" "{PMID:Jacobson 1996:8994365}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "R220Q" "" "Germline" "" "" "0" "" "" "g.42704534C>T" "" "likely pathogenic (dominant)" "" "0000762670" "3" "99" "6" "42672272" "42672272" "subst" "8.12189E-6" "04036" "PRPH2_000021" "g.42672272C>T" "3/3 families" "{PMID:Khan 2019:30822235}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.659G>A; p.Arg220Gln" "" "Germline" "" "" "0" "" "" "g.42704534C>T" "" "pathogenic" "" "0000762671" "0" "99" "6" "42672272" "42672272" "subst" "8.12189E-6" "04036" "PRPH2_000021" "g.42672272C>T" "3/3 families" "{PMID:Khan 2019:30822235}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.659G>A; p.Arg220Gln" "" "Germline" "" "" "0" "" "" "g.42704534C>T" "" "pathogenic" "" "0000762672" "0" "99" "6" "42672272" "42672272" "subst" "8.12189E-6" "04036" "PRPH2_000021" "g.42672272C>T" "3/3 families" "{PMID:Khan 2019:30822235}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.659G>A; p.Arg220Gln" "" "Germline" "" "" "0" "" "" "g.42704534C>T" "" "pathogenic" "" "0000762673" "0" "77" "6" "42672272" "42672272" "subst" "0" "04036" "PRPH2_000206" "g.42672272C>G" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.659G>C; p.Arg220Pro" "" "Germline" "" "" "0" "" "" "g.42704534C>G" "" "likely pathogenic (dominant)" "" "0000762674" "0" "77" "6" "42672272" "42672272" "subst" "0" "04036" "PRPH2_000206" "g.42672272C>G" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.659G>C; p.Arg220Pro" "" "Germline" "" "" "0" "" "" "g.42704534C>G" "" "likely pathogenic (dominant)" "" "0000762675" "0" "77" "6" "42672267" "42672272" "del" "0" "04036" "PRPH2_000205" "g.42672267_42672272del" "1/877" "{PMID:Martin-Merida 2019:30902645}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.660_665del; p.(Pro221_Cys222del)" "" "De novo" "" "" "0" "" "" "g.42704529_42704534del" "" "likely pathogenic (dominant)" "" "0000762676" "0" "55" "6" "42672269" "42672269" "subst" "0" "04036" "PRPH2_000135" "g.42672269G>A" "1/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.662 C>T; p.Pro221Leu" "" "Unknown" "" "" "0" "" "" "g.42704531G>A" "" "VUS" "" "0000762677" "20" "75" "6" "42672267" "42672267" "subst" "0" "04036" "PRPH2_000204" "g.42672267A>T" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.664T>A; p.Cys222Ser" "" "Germline" "" "" "0" "" "" "g.42704529A>T" "" "likely pathogenic (dominant)" "" "0000762678" "0" "79" "6" "42672266" "42672266" "subst" "0" "04036" "PRPH2_000203" "g.42672266C>G" "" "{PMID:Ahmad 2010:25390130}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "G665C; C222S" "" "Unknown" "" "" "0" "" "" "g.42704528C>G" "" "likely pathogenic (dominant)" "" "0000762679" "0" "99" "6" "42672266" "42672266" "subst" "0" "04036" "PRPH2_000134" "g.42672266C>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.665G>A; Cys222Tyr TGC>TAC" "" "Unknown" "" "" "0" "" "" "g.42704528C>T" "" "pathogenic (dominant)" "" "0000762680" "0" "59" "6" "42672266" "42672266" "subst" "0" "04036" "PRPH2_000134" "g.42672266C>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.665G>A; p.Cys222Tyr" "" "Unknown" "" "" "0" "" "" "g.42704528C>T" "" "VUS" "" "0000762681" "0" "57" "6" "42672258" "42672262" "" "0" "04036" "PRPH2_000307" "g.(42672258_42672262)insN[37]" "1/300" "{PMID:Payne 1998:9443872}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.224ins (37 bp)" "ACMG PVS1, PM1, PM2" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000762682" "0" "79" "6" "0" "0" "" "0" "04036" "LAMA2_000000" "g.?" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.675T>A; p.Tyr225*" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000762683" "0" "79" "6" "42672255" "42672255" "subst" "0" "04036" "PRPH2_000202" "g.42672255G>A" "1/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.676C>T; p.(Gln226*)" "" "Unknown" "" "rs61755811" "0" "" "" "g.42704517G>A" "" "likely pathogenic (dominant)" "" "0000762684" "0" "97" "6" "42672248" "42672248" "subst" "4.06121E-5" "04036" "PRPH2_000201" "g.42672248G>A" "1/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.683C>T; p.Thr228Ile" "" "Unknown" "" "" "0" "" "" "g.42704510G>A" "" "pathogenic (dominant)" "" "0000762685" "0" "77" "6" "42672248" "42672248" "subst" "4.06121E-5" "04036" "PRPH2_000201" "g.42672248G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.683C>T; p.Thr228Ile" "" "Unknown" "" "" "0" "" "" "g.42704510G>A" "" "likely pathogenic (dominant)" "" "0000762686" "0" "77" "6" "42672248" "42672248" "subst" "4.06121E-5" "04036" "PRPH2_000201" "g.42672248G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.683C>T; p.Thr228Ile" "" "Unknown" "" "" "0" "" "" "g.42704510G>A" "" "likely pathogenic (dominant)" "" "0000762687" "0" "77" "6" "42672248" "42672248" "subst" "4.06121E-5" "04036" "PRPH2_000201" "g.42672248G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.683C>T; p.Thr228Ile" "" "Unknown" "" "" "0" "" "" "g.42704510G>A" "" "likely pathogenic (dominant)" "" "0000762688" "0" "77" "6" "42672248" "42672248" "subst" "4.06121E-5" "04036" "PRPH2_000201" "g.42672248G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.683C>T; p.Thr228Ile" "" "Unknown" "" "" "0" "" "" "g.42704510G>A" "" "likely pathogenic (dominant)" "" "0000762689" "0" "59" "6" "42672231" "42672231" "dup" "0" "04036" "PRPH2_000200" "g.42672231dup" "1/300" "{PMID:Payne 1998:9443872}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.234ins (1 bp)" "" "Germline" "yes" "rs61755812" "0" "" "" "g.42704493dup" "" "VUS" "" "0000762690" "0" "13" "6" "42672223" "42672223" "subst" "0.000142333" "04036" "PRPH2_000199" "g.42672223G>A" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Tyr236Tyr" "" "Unknown" "" "rs61755813" "0" "" "" "g.42704485G>A" "" "benign" "" "0000762691" "0" "79" "6" "42672223" "42672223" "subst" "0" "04036" "PRPH2_000055" "g.42672223G>C" "1/9" "{PMID:Strom 2012:22863181}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Y236*" "" "Unknown" "" "" "0" "" "" "g.42704485G>C" "" "likely pathogenic (dominant)" "" "0000762692" "0" "99" "6" "42672223" "42672223" "subst" "0" "04036" "PRPH2_000055" "g.42672223G>C" "1/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.708C>G; p.Tyr236*" "" "Unknown" "" "" "0" "" "" "g.42704485G>C" "" "pathogenic (dominant)" "" "0000762693" "0" "99" "6" "42672223" "42672223" "subst" "0" "04036" "PRPH2_000055" "g.42672223G>C" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.708C>G; p.Tyr236*" "" "Unknown" "" "" "0" "" "" "g.42704485G>C" "" "pathogenic (dominant)" "" "0000762694" "0" "99" "6" "42672223" "42672223" "subst" "0" "04036" "PRPH2_000055" "g.42672223G>C" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.708C>G; p.Tyr236*" "" "Unknown" "" "" "0" "" "" "g.42704485G>C" "" "pathogenic (dominant)" "" "0000762695" "0" "99" "6" "42672223" "42672223" "subst" "0" "04036" "PRPH2_000055" "g.42672223G>C" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.708C>G; p.Tyr236*" "" "Unknown" "" "" "0" "" "" "g.42704485G>C" "" "pathogenic (dominant)" "" "0000762696" "0" "77" "6" "42672211" "42672222" "del" "0" "04036" "PRPH2_000198" "g.42672211_42672222del" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "948_959 del; Asp237_Thr240del" "" "Germline" "no" "" "0" "" "" "g.42704473_42704484del" "" "likely pathogenic (dominant)" "" "0000762697" "0" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Gln239ter" "" "Unknown" "no" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762698" "3" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/4" "{PMID:Daftarian 2019:31618092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239Ter" "" "Germline" "yes" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762699" "10" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/4" "{PMID:Daftarian 2019:31618092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239Ter" "" "Germline" "yes" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762700" "20" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/4" "{PMID:Daftarian 2019:31618092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239Ter" "" "Germline" "yes" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic" "" "0000762701" "0" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/4" "{PMID:Daftarian 2019:31618092}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239Ter" "" "Germline" "yes" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762702" "0" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239*" "" "Unknown" "" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762703" "0" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239*" "" "Germline" "yes" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762704" "0" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239*" "" "Germline" "yes" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762705" "0" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239*" "" "Unknown" "" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762706" "0" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "4/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.715C>T; p.Gln239*" "" "Unknown" "" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762707" "0" "99" "6" "42672216" "42672216" "subst" "0" "04036" "PRPH2_000117" "g.42672216G>A" "1/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C715T; p.Q239X" "" "Unknown" "" "rs61755814" "0" "" "" "g.42704478G>A" "" "pathogenic (dominant)" "" "0000762708" "0" "55" "6" "42672206" "42672206" "subst" "0.000476835" "04036" "PRPH2_000010" "g.42672206T>C" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.725A>G; p.Glu242Gly" "" "Unknown" "" "rs542296728" "0" "" "" "g.42704468T>C" "" "VUS" "" "0000762709" "10" "99" "6" "42672201" "42672201" "subst" "0" "04036" "PRPH2_000197" "g.42672201T>G" "1/60 cases" "{PMID Nakazawa 1994:7981698}, {PMID:Nakazawa 1996:8540854}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244His" "" "Germline" "yes" "rs61755815" "0" "" "" "g.42704463T>G" "" "pathogenic (dominant)" "" "0000762710" "10" "99" "6" "42672201" "42672201" "subst" "0" "04036" "PRPH2_000197" "g.42672201T>G" "1/60 cases" "{PMID Nakazawa 1994:7981698}, {PMID:Nakazawa 1996:8540854}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244His" "" "Germline" "yes" "rs61755815" "0" "" "" "g.42704463T>G" "" "pathogenic (dominant)" "" "0000762711" "21" "97" "6" "42672195" "42672201" "delins" "0" "04036" "PRPH2_000196" "g.42672195_42672201delinsGTCTGGTGCACCCGTCTGGAGGAGCTG" "1/39" "{PMID:Hosono 2018:29844330}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.730_736delinsCAGCTCC TCCAGACGGGTGCACCAGAC; p.(N244Qfs*19)" "" "Germline" "no" "" "0" "" "" "g.42704457_42704463delinsGTCTGGTGCACCCGTCTGGAGGAGCTG" "" "pathogenic" "" "0000762712" "20" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Kikawa 1994:8020945}, {PMID Nakazawa 1994:7993211}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Germline" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762713" "20" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Kikawa 1994:8020945}, {PMID Nakazawa 1994:7993211}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Germline" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762714" "20" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Kikawa 1994:8020945}, {PMID Nakazawa 1994:7993211}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Germline" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762715" "11" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Kikawa 1994:8020945}, {PMID Nakazawa 1994:7993211}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Germline" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762716" "11" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Kikawa 1994:8020945}, {PMID Nakazawa 1994:7993211}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Germline" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762717" "11" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Kikawa 1994:8020945}, {PMID Nakazawa 1994:7993211}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Germline" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762718" "21" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Kikawa 1994:8020945}, {PMID Nakazawa 1994:7993211}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Germline" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762719" "21" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Kikawa 1994:8020945}, {PMID Nakazawa 1994:7993211}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Germline" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762720" "0" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000054" "g.42672199G>T" "" "{PMID:Nakazawa 1993:7904791}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Unknown" "yes" "" "0" "" "" "g.42704461G>T" "" "likely pathogenic (dominant)" "" "0000762721" "0" "79" "6" "42672199" "42672199" "subst" "0" "04036" "PRPH2_000088" "g.42672199G>C" "" "{PMID Nakazawa 1994:7981698}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Asn244Lys" "" "Unknown" "" "rs61755816" "0" "" "" "g.42704461G>C" "" "likely pathogenic (dominant)" "" "0000762722" "0" "77" "6" "42672195" "42672195" "subst" "0" "04036" "PRPH2_000195" "g.42672195A>G" "1/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.T736C; p.W246R" "" "Unknown" "" "rs61755817" "0" "" "" "g.42704457A>G" "" "likely pathogenic (dominant)" "" "0000762723" "0" "57" "6" "42672195" "42672195" "subst" "0" "04036" "PRPH2_000195" "g.42672195A>G" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Trp246Arg" "" "Germline" "no" "rs61755817" "0" "" "" "g.42704457A>G" "" "VUS" "" "0000762724" "0" "57" "6" "42672195" "42672195" "subst" "0" "04036" "PRPH2_000195" "g.42672195A>G" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Trp246Arg" "" "Germline" "no" "rs61755817" "0" "" "" "g.42704457A>G" "" "VUS" "" "0000762725" "21" "57" "6" "42672195" "42672195" "subst" "0" "04036" "PRPH2_000195" "g.42672195A>G" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Trp246Arg" "" "Germline" "no" "rs61755817" "0" "" "" "g.42704457A>G" "" "VUS" "" "0000762726" "21" "57" "6" "42672195" "42672195" "subst" "0" "04036" "PRPH2_000195" "g.42672195A>G" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Trp246Arg" "" "Germline" "no" "rs61755817" "0" "" "" "g.42704457A>G" "" "VUS" "" "0000762727" "20" "77" "6" "42672193" "42672193" "subst" "0" "04036" "PRPH2_000193" "g.42672193C>G" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.738G>C; p.Trp246Cys" "" "Germline" "yes" "" "0" "" "" "g.42704455C>G" "" "likely pathogenic (dominant)" "" "0000762728" "20" "77" "6" "42672193" "42672193" "subst" "0" "04036" "PRPH2_000193" "g.42672193C>G" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.738G>C; p.Trp246Cys" "" "Germline" "yes" "" "0" "" "" "g.42704455C>G" "" "likely pathogenic (dominant)" "" "0000762729" "11" "77" "6" "42672193" "42672193" "subst" "0" "04036" "PRPH2_000193" "g.42672193C>G" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.738G>C; p.Trp246Cys" "" "Germline" "yes" "" "0" "" "" "g.42704455C>G" "" "likely pathogenic (dominant)" "" "0000762730" "11" "77" "6" "42672193" "42672193" "subst" "0" "04036" "PRPH2_000193" "g.42672193C>G" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.738G>C; p.Trp246Cys" "" "Germline" "yes" "" "0" "" "" "g.42704455C>G" "" "likely pathogenic (dominant)" "" "0000762731" "21" "77" "6" "42672193" "42672193" "subst" "0" "04036" "PRPH2_000193" "g.42672193C>G" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.738G>C; p.Trp246Cys" "" "Germline" "yes" "" "0" "" "" "g.42704455C>G" "" "likely pathogenic (dominant)" "" "0000762732" "10" "79" "6" "42672193" "42672196" "dup" "0" "04036" "PRPH2_000194" "g.42672193_42672196dup" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "975-978 dupGGTG; Arg248Gly fsX301" "" "Germline" "no" "" "0" "" "" "g.42704455_42704458dup" "" "likely pathogenic (dominant)" "" "0000762733" "0" "57" "6" "42672186" "42672186" "subst" "0" "04036" "PRPH2_000192" "g.42672186C>T" "1/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.745 G>A; p.Gly249Ser" "" "Unknown" "" "" "0" "" "" "g.42704448C>T" "" "VUS" "" "0000762734" "0" "99" "6" "42672186" "42672186" "del" "0" "04036" "PRPH2_000074" "g.42672186del" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42672185del; p.(Gly249fs)" "" "Germline" "" "" "0" "" "" "g.42704448del" "" "pathogenic (dominant)" "" "0000762735" "10" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "4/57 cases" "{PMID:Katagiri 2018:29630435}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G, p.Cys250Gly" "" "Germline" "yes" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic (dominant)" "" "0000762736" "20" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "4/57 cases" "{PMID:Katagiri 2018:29630435}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G, p.Cys250Gly" "" "Germline" "yes" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic (dominant)" "" "0000762737" "20" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "4/57 cases" "{PMID:Katagiri 2018:29630435}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G, p.Cys250Gly" "" "Germline" "yes" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic (dominant)" "" "0000762738" "10" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "4/57 cases" "{PMID:Katagiri 2018:29630435}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G, p.Cys250Gly" "" "Germline" "yes" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic (dominant)" "" "0000762739" "11" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "4/57 cases" "{PMID:Katagiri 2018:29630435}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G, p.Cys250Gly" "" "Germline" "yes" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic (dominant)" "" "0000762740" "10" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "4/57 cases" "{PMID:Katagiri 2018:29630435}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G, p.Cys250Gly" "" "Germline" "yes" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic (dominant)" "" "0000762741" "0" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "4/57 cases" "{PMID:Katagiri 2018:29630435}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G, p.Cys250Gly" "" "Germline" "yes" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic (dominant)" "" "0000762742" "21" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "4/57 cases" "{PMID:Katagiri 2018:29630435}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G, p.Cys250Gly" "" "Germline" "yes" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic (dominant)" "" "0000762744" "0" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000191" "g.42672183A>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>A; p.Cys250Ser" "" "Unknown" "" "rs1064793931" "0" "" "" "g.42704445A>T" "" "likely pathogenic (dominant)" "" "0000762745" "0" "77" "6" "42672182" "42672182" "subst" "0" "04036" "PRPH2_000116" "g.42672182C>T" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.749G>A; p.C250Y" "" "Unknown" "" "" "0" "" "" "g.42704444C>T" "" "likely pathogenic (dominant)" "" "0000762746" "0" "79" "6" "42672182" "42672182" "subst" "4.13476E-6" "04036" "PRPH2_000190" "g.42672182C>A" "8/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys250Phe" "" "Germline" "yes" "" "0" "" "" "g.42704444C>A" "" "likely pathogenic (dominant)" "" "0000762747" "0" "79" "6" "42672182" "42672182" "subst" "4.13476E-6" "04036" "PRPH2_000190" "g.42672182C>A" "8/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys250Phe" "" "Germline" "yes" "" "0" "" "" "g.42704444C>A" "" "likely pathogenic (dominant)" "" "0000762748" "0" "79" "6" "42672182" "42672182" "subst" "4.13476E-6" "04036" "PRPH2_000190" "g.42672182C>A" "8/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys250Phe" "" "Germline" "yes" "" "0" "" "" "g.42704444C>A" "" "likely pathogenic (dominant)" "" "0000762749" "0" "79" "6" "42672182" "42672182" "subst" "4.13476E-6" "04036" "PRPH2_000190" "g.42672182C>A" "8/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys250Phe" "" "Germline" "yes" "" "0" "" "" "g.42704444C>A" "" "likely pathogenic (dominant)" "" "0000762750" "0" "79" "6" "42672182" "42672182" "subst" "4.13476E-6" "04036" "PRPH2_000190" "g.42672182C>A" "8/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys250Phe" "" "Germline" "yes" "" "0" "" "" "g.42704444C>A" "" "likely pathogenic (dominant)" "" "0000762751" "11" "79" "6" "42672182" "42672182" "subst" "4.13476E-6" "04036" "PRPH2_000190" "g.42672182C>A" "8/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys250Phe" "" "Germline" "yes" "" "0" "" "" "g.42704444C>A" "" "likely pathogenic (dominant)" "" "0000762752" "0" "79" "6" "42672182" "42672182" "subst" "4.13476E-6" "04036" "PRPH2_000190" "g.42672182C>A" "8/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys250Phe" "" "Germline" "yes" "" "0" "" "" "g.42704444C>A" "" "likely pathogenic (dominant)" "" "0000762753" "0" "79" "6" "42672182" "42672182" "subst" "4.13476E-6" "04036" "PRPH2_000190" "g.42672182C>A" "8/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Cys250Phe" "" "Germline" "yes" "" "0" "" "" "g.42704444C>A" "" "likely pathogenic (dominant)" "" "0000762754" "0" "59" "6" "42672162" "42672182" "delins" "0" "04036" "PRPH2_000186" "g.42672162_42672182delinsTCATG" "1/79" "{PMID:Wolock 2019:30926958} , {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.749_769delinsCATGA; p.Cys250SerfsTer8" "" "Unknown" "" "" "0" "" "" "g.42704424_42704444delinsTCATG" "" "VUS" "" "0000762755" "0" "55" "6" "42672177" "42672177" "subst" "0" "04036" "PRPH2_000189" "g.42672177C>G" "1/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.G754C; p.A252P" "" "Unknown" "" "" "0" "" "" "g.42704439C>G" "" "VUS" "" "0000762756" "0" "57" "6" "42672173" "42672173" "subst" "0" "04036" "PRPH2_000188" "g.42672173G>T" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.758C>A; p.Ala253Glu" "" "Germline" "yes" "" "0" "" "" "g.42704435G>T" "" "VUS" "" "0000762757" "11" "57" "6" "42672173" "42672173" "subst" "0" "04036" "PRPH2_000188" "g.42672173G>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.758C>A; p.Ala253Glu" "" "Germline" "yes" "" "0" "" "" "g.42704435G>T" "" "VUS" "" "0000762758" "0" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "no" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762759" "0" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762760" "21" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762761" "11" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762762" "11" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762763" "3" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic" "" "0000762764" "3" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "1/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic" "" "0000762765" "11" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762766" "11" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762767" "11" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762768" "10" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762769" "10" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762770" "10" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762771" "10" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762772" "10" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762773" "11" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762774" "21" "99" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "pathogenic (dominant)" "" "0000762775" "0" "79" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "likely pathogenic (dominant)" "" "0000762776" "0" "79" "6" "42672170" "42672170" "subst" "0" "04036" "PRPH2_000187" "g.42672170A>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.761T>A; p.Leu254Gln" "" "Germline" "yes" "" "0" "" "" "g.42704432A>T" "" "likely pathogenic (dominant)" "" "0000762777" "0" "99" "6" "42672157" "42672157" "subst" "0" "04036" "PRPH2_000114" "g.42672157G>C" "1/300" "{PMID:Payne 1998:9443872}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.771C>G ; p.Tyr257*" "" "Germline" "yes" "" "0" "" "" "g.42704419G>C" "" "pathogenic (dominant)" "" "0000762778" "10" "79" "6" "42672157" "42672157" "subst" "0" "04036" "PRPH2_000185" "g.42672157G>T" "1/58 cases" "{PMID:Wells 1993:8485576}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Tyr258stop" "" "Unknown" "no" "rs121918564" "0" "" "" "g.42704419G>T" "" "likely pathogenic (dominant)" "" "0000762779" "0" "55" "6" "42672150" "42672150" "subst" "0.000113754" "04036" "PRPH2_000072" "g.42672150G>A" "1/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C781T; p.L261F" "" "Unknown" "" "rs62645935" "0" "" "" "g.42704412G>A" "" "VUS" "" "0000762780" "20" "77" "6" "42672134" "42672134" "subst" "0" "04036" "PRPH2_000100" "g.42672134C>T" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly266Asp" "" "Germline" "yes" "rs62645935" "0" "" "" "g.42704396C>T" "" "likely pathogenic (dominant)" "" "0000762781" "20" "77" "6" "42672134" "42672134" "subst" "0" "04036" "PRPH2_000100" "g.42672134C>T" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly266Asp" "" "Germline" "yes" "rs62645935" "0" "" "" "g.42704396C>T" "" "likely pathogenic (dominant)" "" "0000762782" "20" "77" "6" "42672134" "42672134" "subst" "0" "04036" "PRPH2_000100" "g.42672134C>T" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly266Asp" "" "Germline" "yes" "rs62645935" "0" "" "" "g.42704396C>T" "" "likely pathogenic (dominant)" "" "0000762783" "11" "77" "6" "42672134" "42672134" "subst" "0" "04036" "PRPH2_000100" "g.42672134C>T" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly266Asp" "" "Germline" "yes" "rs62645935" "0" "" "" "g.42704396C>T" "" "likely pathogenic (dominant)" "" "0000762784" "11" "77" "6" "42672134" "42672134" "subst" "0" "04036" "PRPH2_000100" "g.42672134C>T" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly266Asp" "" "Germline" "yes" "rs62645935" "0" "" "" "g.42704396C>T" "" "likely pathogenic (dominant)" "" "0000762785" "21" "77" "6" "42672134" "42672134" "subst" "0" "04036" "PRPH2_000100" "g.42672134C>T" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly266Asp" "" "Germline" "yes" "rs62645935" "0" "" "" "g.42704396C>T" "" "likely pathogenic (dominant)" "" "0000762786" "0" "77" "6" "42672134" "42672134" "subst" "0" "04036" "PRPH2_000100" "g.42672134C>T" "1/96" "{PMID:Anasagasti 2013:24416769}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Gly266Asp" "" "Unknown" "" "rs62645935" "0" "" "" "g.42704396C>T" "" "likely pathogenic (dominant)" "" "0000762787" "0" "59" "6" "42672129" "42672129" "subst" "1.69102E-5" "04036" "PRPH2_000184" "g.42672129C>T" "1/28" "{PMID:Felbor 1997:9338584}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.802 G>A; p.Val268IIe" "" "Unknown" "" "rs62645936" "0" "" "" "g.42704391C>T" "" "VUS" "" "0000762788" "0" "99" "6" "42672122" "42672123" "del" "0" "04036" "PRPH2_000183" "g.42672122_42672123del" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.808_809del; p.L270Pfs*30" "" "Unknown" "" "" "0" "" "" "g.42704384_42704385del" "" "pathogenic (dominant)" "" "0000762789" "0" "79" "6" "42672114" "42672124" "del" "0" "04036" "PRPH2_000181" "g.42672114_42672124del" "2/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.808_818del p.(Leu270Alafs*27)" "" "Unknown" "" "rs1582764504" "0" "" "" "g.42704376_42704386del" "" "likely pathogenic (dominant)" "" "0000762790" "0" "79" "6" "42672114" "42672124" "del" "0" "04036" "PRPH2_000181" "g.42672114_42672124del" "2/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.808_818del p.(Leu270Alafs*27)" "" "Unknown" "" "rs1582764504" "0" "" "" "g.42704376_42704386del" "" "likely pathogenic (dominant)" "" "0000762791" "0" "79" "6" "42672121" "42672121" "del" "0" "04036" "PRPH2_000182" "g.42672121del" "1/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.811del p.(Leu271Serfs*7)" "" "Unknown" "" "rs1582764528" "0" "" "" "g.42704383del" "" "likely pathogenic (dominant)" "" "0000762792" "0" "57" "6" "42672121" "42672123" "del" "0" "04036" "PRPH2_000051" "g.42672121_42672123del" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Leu271del" "" "Unknown" "no" "" "0" "" "" "g.42704383_42704385del" "" "VUS" "" "0000762793" "0" "57" "6" "42672121" "42672123" "del" "0" "04036" "PRPH2_000051" "g.42672121_42672123del" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.811_813delCTC; p.Leu271del" "" "Unknown" "" "" "0" "" "" "g.42704383_42704385del" "" "VUS" "" "0000762794" "0" "79" "6" "42672106" "42672107" "del" "0" "04036" "PRPH2_000180" "g.42672106_42672107del" "1/15 cases" "{PMID:Bareil 1997:9361310}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "-MboII" "p.F275*" "" "Unknown" "" "" "0" "" "" "g.42704368_42704369del" "" "likely pathogenic (dominant)" "" "0000762795" "0" "77" "6" "42672105" "42672105" "subst" "0" "04036" "PRPH2_000179" "g.42672105C>A" "1/9" "{PMID:Strom 2012:22863181}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Q276*" "" "Unknown" "" "" "0" "" "" "g.42704367C>A" "" "likely pathogenic" "" "0000762796" "0" "77" "6" "42666224" "42666224" "subst" "8.12209E-6" "04036" "PRPH2_000174" "g.42666224G>A" "1/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C850T; p.R284C" "" "Unknown" "" "" "0" "" "" "g.42698486G>A" "" "likely pathogenic (dominant)" "" "0000762797" "0" "77" "6" "42672100" "42672107" "delins" "0" "04036" "PRPH2_000177" "g.42672100_42672107delinsCCAAATGAGGAGCCCAAATG" "1/24" "{PMID:Coco-Martin 2020:32660024}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.824_828+3delins CATTTGGGCTCCTCATTTGG" "" "De novo" "" "" "0" "" "" "g.42704362_42704369delinsCCAAATGAGGAGCCCAAATG" "" "likely pathogenic (dominant)" "" "0000762798" "0" "99" "6" "42672102" "42672102" "subst" "0" "04036" "PRPH2_000019" "g.42672102C>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+1G>A; p.?" "" "Germline" "yes" "" "0" "" "" "g.42704364C>T" "" "pathogenic (dominant)" "" "0000762799" "0" "99" "6" "42672102" "42672102" "subst" "0" "04036" "PRPH2_000019" "g.42672102C>T" "2/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+1G>A; p.?" "" "Germline" "yes" "" "0" "" "" "g.42704364C>T" "" "pathogenic (dominant)" "" "0000762800" "0" "77" "6" "42672101" "42672101" "subst" "0" "04036" "PRPH2_000178" "g.42672101A>G" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+2 T>C" "" "Germline" "yes" "" "0" "" "" "g.42704363A>G" "" "likely pathogenic (dominant)" "" "0000762801" "21" "77" "6" "42672101" "42672101" "subst" "0" "04036" "PRPH2_000178" "g.42672101A>G" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+2 T>C" "" "Germline" "yes" "" "0" "" "" "g.42704363A>G" "" "likely pathogenic (dominant)" "" "0000762802" "21" "77" "6" "42672101" "42672101" "subst" "0" "04036" "PRPH2_000178" "g.42672101A>G" "1/61 cases" "{PMID:Gamundi 2007:17653047}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+2 T>C" "" "Germline" "yes" "" "0" "" "" "g.42704363A>G" "" "likely pathogenic (dominant)" "" "0000762803" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "4/7 families" "{PMID:Sears 2001:11704030}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762804" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "4/7 families" "{PMID:Sears 2001:11704030}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762805" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "4/7 families" "{PMID:Sears 2001:11704030}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762806" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "4/7 families" "{PMID:Sears 2001:11704030}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762807" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762808" "21" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762809" "21" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762810" "21" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762811" "21" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762812" "11" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762813" "11" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762814" "11" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762815" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762816" "21" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762817" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762818" "21" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762819" "21" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762820" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762821" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762822" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762823" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762824" "11" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762825" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762826" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/38" "{PMID:Francis 2005:16113362}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "IVS2+3 A>T" "" "Unknown" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762827" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "2/170" "{PMID:Sullivan 2013:23950152}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762828" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "2/170" "{PMID:Sullivan 2013:23950152}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762829" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "4/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762830" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "4/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762831" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "4/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762832" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "4/213" "{PMID:Alapati 2014:25082885}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762833" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762834" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762835" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762836" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762837" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762838" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762839" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762840" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762841" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762842" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762843" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762844" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762845" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762846" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762847" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762848" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762849" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762850" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762851" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762852" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762853" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762854" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762855" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762856" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762857" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762858" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762859" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762860" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762861" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762862" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762863" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762864" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762865" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762866" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762867" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762868" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762869" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762870" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762871" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762872" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762873" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762874" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762875" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762876" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762877" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762878" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762879" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762880" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762881" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762882" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762883" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762884" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762885" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762886" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762887" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762888" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762889" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762890" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762891" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762892" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762893" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762894" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762895" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762896" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762897" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762898" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762899" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762900" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762901" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762902" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762903" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762904" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762905" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762906" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762907" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762908" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762909" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762910" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762911" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762912" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762913" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762914" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762915" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762916" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762917" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762918" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762919" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762920" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762921" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762922" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762923" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762924" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762925" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762926" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762927" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762928" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762929" "0" "77" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "19/351 families (Shankar 2015); 62/62 cases (Shankar 2016)" "{PMID:Shankar 2015:25675413}, {PMID:Shankar 2016:26842753}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "likely pathogenic (dominant)" "" "0000762930" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762931" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762932" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762933" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762934" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762935" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762936" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762937" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762938" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762939" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762940" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762941" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762942" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762943" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762944" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762945" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762946" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762947" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762948" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762949" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762950" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762951" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762952" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Germline" "yes" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762953" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762954" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762955" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762956" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762957" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762958" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762959" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762960" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762961" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762962" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762963" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762964" "0" "97" "6" "42672100" "42672100" "subst" "4.28798E-6" "04036" "PRPH2_000132" "g.42672100T>A" "36/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.828+3A>T" "" "Unknown" "" "rs281865373" "0" "" "" "g.42704362T>A" "" "pathogenic (dominant)" "" "0000762965" "0" "99" "6" "42666246" "42666248" "del" "0" "04036" "PRPH2_000175" "g.42666246_42666248del" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-3_829-1del" "" "Unknown" "" "" "0" "" "" "g.42698508_42698510del" "" "pathogenic (dominant)" "" "0000762966" "0" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "no" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762967" "20" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762968" "20" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762969" "21" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762970" "20" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762971" "0" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762972" "11" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762973" "11" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762974" "11" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762975" "11" "55" "6" "42666249" "42666249" "subst" "0" "04036" "PRPH2_000176" "g.42666249G>C" "4/310 cases" "{PMID:Manes 2015:25447119}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.829-4C>G" "" "Germline" "yes" "rs1582759785" "0" "" "" "g.42698511G>C" "" "VUS" "" "0000762976" "20" "97" "6" "42666219" "42666219" "subst" "0" "04036" "PRPH2_000173" "g.42666219G>T" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr285ter" "" "Germline" "yes" "rs62645938" "0" "" "" "g.42698481G>T" "" "pathogenic (dominant)" "" "0000762977" "20" "97" "6" "42666219" "42666219" "subst" "0" "04036" "PRPH2_000173" "g.42666219G>T" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Tyr285ter" "" "Germline" "yes" "rs62645938" "0" "" "" "g.42698481G>T" "" "pathogenic (dominant)" "" "0000762978" "0" "75" "6" "42666217" "42666217" "subst" "0" "04036" "PRPH2_000172" "g.42666217A>G" "1/298" "{PMID:Sun 2015:26747767}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.857T>C; p.Leu286Pro" "" "Unknown" "" "" "0" "" "" "g.42698479A>G" "" "likely pathogenic (dominant)" "" "0000762979" "0" "75" "6" "42666211" "42666211" "subst" "0" "04036" "PRPH2_000171" "g.42666211G>T" "1/298" "{PMID:Sun 2015:26747767}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.863C>A; p.Thr288Lys" "" "Unknown" "" "" "0" "" "" "g.42698473G>T" "" "likely pathogenic (dominant)" "" "0000762980" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.866C>T; p.S289L" "" "Germline" "yes" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762981" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762982" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762983" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762984" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762985" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762986" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762987" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762988" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762989" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762990" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762991" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762992" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762993" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762994" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762995" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762996" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762997" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "17/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C866T; p.S289L" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000762998" "0" "75" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "1/76 cases" "{PMID:Kohl 1997:9279751}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Ser289Leu" "" "De novo" "no" "rs62645939" "0" "" "" "g.42698470G>A" "" "likely pathogenic (dominant)" "" "0000762999" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "1/38" "{PMID:Ekström 1998:10193525}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Ser289Leu" "" "Unknown" "no" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000763000" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.866C>T; p.Ser289Leu" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000763001" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "2/22" "{PMID:Renner 2009:19038374}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.866C>T; p.Ser289Leu" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000763002" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.866C>T; p.Ser289Leu" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000763003" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.866C>T; p.Ser289Leu" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000763004" "0" "55" "6" "42666208" "42666208" "subst" "0.000649741" "04036" "PRPH2_000009" "g.42666208G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.866C>T; p.Ser289Leu" "" "Unknown" "" "rs62645939" "0" "" "" "g.42698470G>A" "" "VUS" "" "0000763005" "0" "79" "6" "42666205" "42666206" "del" "0" "04036" "PRPH2_000170" "g.42666205_42666206del" "" "{PMID:Grover 2002:12045052}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "2-bp frameshift deletion at codon 290" "" "Germline" "yes" "" "0" "" "" "g.42698467_42698468del" "" "likely pathogenic (dominant)" "" "0000763006" "11" "79" "6" "42666205" "42666206" "del" "0" "04036" "PRPH2_000170" "g.42666205_42666206del" "" "{PMID:Grover 2002:12045052}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "2-bp frameshift deletion at codon 290" "" "Germline" "yes" "" "0" "" "" "g.42698467_42698468del" "" "likely pathogenic (dominant)" "" "0000763007" "11" "79" "6" "42666205" "42666206" "del" "0" "04036" "PRPH2_000170" "g.42666205_42666206del" "" "{PMID:Grover 2002:12045052}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "2-bp frameshift deletion at codon 290" "" "Germline" "yes" "" "0" "" "" "g.42698467_42698468del" "" "likely pathogenic (dominant)" "" "0000763008" "0" "79" "6" "42666176" "42666177" "del" "0" "04036" "PRPH2_000071" "g.42666176_42666177del" "4/10 families" "{PMID:Nichols 1993:8251014}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Ddel-" "TG deletion nucleotide 1137" "" "Germline" "yes" "rs61748429" "0" "" "" "g.42698438_42698439del" "" "likely pathogenic (dominant)" "" "0000763009" "11" "79" "6" "42666176" "42666177" "del" "0" "04036" "PRPH2_000071" "g.42666176_42666177del" "4/10 families" "{PMID:Nichols 1993:8251014}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Ddel-" "TG deletion nucleotide 1138" "" "Germline" "yes" "rs61748429" "0" "" "" "g.42698438_42698439del" "" "likely pathogenic (dominant)" "" "0000763010" "11" "79" "6" "42666176" "42666177" "del" "0" "04036" "PRPH2_000071" "g.42666176_42666177del" "4/10 families" "{PMID:Nichols 1993:8251014}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Ddel-" "TG deletion nucleotide 1139" "" "Germline" "yes" "rs61748429" "0" "" "" "g.42698438_42698439del" "" "likely pathogenic (dominant)" "" "0000763011" "11" "79" "6" "42666176" "42666177" "del" "0" "04036" "PRPH2_000071" "g.42666176_42666177del" "4/10 families" "{PMID:Nichols 1993:8251014}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "Ddel-" "TG deletion nucleotide 1140" "" "Germline" "yes" "rs61748429" "0" "" "" "g.42698438_42698439del" "" "likely pathogenic (dominant)" "" "0000763012" "0" "79" "6" "42666171" "42666174" "del" "0" "04036" "PRPH2_000168" "g.42666171_42666174del" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.903_906del; p.Ser301Argfs*22" "" "Unknown" "" "" "0" "" "" "g.42698433_42698436del" "" "likely pathogenic (dominant)" "" "0000763013" "0" "79" "6" "42666171" "42666174" "del" "0" "04036" "PRPH2_000168" "g.42666171_42666174del" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.903_906del; p.Ser301Argfs*22" "" "Germline" "" "" "0" "" "" "g.42698433_42698436del" "" "likely pathogenic (dominant)" "" "0000763014" "0" "79" "6" "42666171" "42666174" "del" "0" "04036" "PRPH2_000168" "g.42666171_42666174del" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.903_906del; p.Ser301Argfs*22" "" "Germline" "" "" "0" "" "" "g.42698433_42698436del" "" "likely pathogenic (dominant)" "" "0000763015" "10" "99" "6" "42666162" "42666162" "del" "0" "04036" "PRPH2_000167" "g.42666162del" "2/157 families" "{PMID:Xu 2014:24938718}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.914delG p.G305Afs*19" "" "Germline" "yes" "" "0" "" "" "g.42698424del" "" "pathogenic (dominant)" "" "0000763016" "10" "99" "6" "42666162" "42666162" "del" "0" "04036" "PRPH2_000167" "g.42666162del" "2/157 families" "{PMID:Xu 2014:24938718}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.914delG p.G305Afs*19" "" "Germline" "yes" "" "0" "" "" "g.42698424del" "" "pathogenic (dominant)" "" "0000763017" "10" "99" "6" "42666162" "42666162" "del" "0" "04036" "PRPH2_000167" "g.42666162del" "2/157 families" "{PMID:Xu 2014:24938718}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.914delG p.G305Afs*19" "" "Germline" "no" "" "0" "" "" "g.42698424del" "" "pathogenic (dominant)" "" "0000763018" "0" "55" "6" "42666160" "42666160" "subst" "0" "04036" "PRPH2_000166" "g.42666160C>T" "1/28" "{PMID:Felbor 1997:9338584}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.914 G>A; p.Gly305Asp" "" "Unknown" "" "rs61748432" "0" "" "" "g.42698422C>T" "" "VUS" "" "0000763019" "0" "99" "6" "42666152" "42666160" "del" "0" "04036" "PRPH2_000165" "g.42666152_42666160del" "" "{PMID:Heinzmann 1995:?}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.(Gly305_Leu308delinsVal" "" "Unknown" "yes" "rs281865374" "0" "" "" "g.42698414_42698422del" "" "pathogenic (dominant)" "" "0000763020" "0" "59" "6" "42666154" "42666154" "del" "0" "04036" "PRPH2_000113" "g.42666154del" "2/2 families" "{PMID:Keilhauer 2006:17148040}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.920delT; p.Leu307fsX83" "" "Germline" "yes" "rs61748433" "0" "" "" "g.42698416del" "" "VUS" "" "0000763021" "0" "59" "6" "42666154" "42666154" "del" "0" "04036" "PRPH2_000113" "g.42666154del" "2/2 families" "{PMID:Keilhauer 2006:17148040}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.920delT; p.Leu307fsX83" "" "Germline" "yes" "rs61748433" "0" "" "" "g.42698416del" "" "VUS" "" "0000763022" "0" "97" "6" "42666151" "42666151" "subst" "2.84269E-5" "04036" "PRPH2_000164" "g.42666151A>T" "2/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.T923A; p.L308Q" "" "Unknown" "" "" "0" "" "" "g.42698413A>T" "" "pathogenic (dominant)" "" "0000763023" "0" "97" "6" "42666151" "42666151" "subst" "2.84269E-5" "04036" "PRPH2_000164" "g.42666151A>T" "" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.T923A; p.L308Q" "" "Unknown" "" "" "0" "" "" "g.42698413A>T" "" "pathogenic (dominant)" "" "0000763024" "0" "55" "6" "42666137" "42666137" "subst" "2.03079E-5" "04036" "PRPH2_000163" "g.42666137G>A" "2/4740" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.937C>T; p.Pro313Ser" "" "Unknown" "" "" "0" "" "" "g.42698399G>A" "" "VUS" "" "0000763025" "0" "55" "6" "42666136" "42666136" "subst" "0.000369576" "04036" "PRPH2_000044" "g.42666136G>A" "3/4740" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C938T; p.P313L" "" "Unknown" "" "rs61748434" "0" "" "" "g.42698398G>A" "" "VUS" "" "0000763026" "0" "55" "6" "42666136" "42666136" "subst" "0.000369576" "04036" "PRPH2_000044" "g.42666136G>A" "3/4741" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C938T; p.P313L" "" "Unknown" "" "rs61748434" "0" "" "" "g.42698398G>A" "" "VUS" "" "0000763027" "0" "55" "6" "42666136" "42666136" "subst" "0.000369576" "04036" "PRPH2_000044" "g.42666136G>A" "3/4742" "{PMID:de Breuk 2020:32717343}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.C938T; p.P313L" "" "Unknown" "" "rs61748434" "0" "" "" "g.42698398G>A" "" "VUS" "" "0000763028" "0" "55" "6" "42666136" "42666136" "subst" "0.000369576" "04036" "PRPH2_000044" "g.42666136G>A" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Pro313Leu" "" "De novo" "no" "rs61748434" "0" "" "" "g.42698398G>A" "" "VUS" "" "0000763029" "0" "55" "6" "42666136" "42666136" "subst" "0.000369576" "04036" "PRPH2_000044" "g.42666136G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.938C>T; p.Pro313Leu" "" "Unknown" "" "rs61748434" "0" "" "" "g.42698398G>A" "" "VUS" "" "0000763030" "0" "55" "6" "42666136" "42666136" "subst" "0.000369576" "04036" "PRPH2_000044" "g.42666136G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.938C>T; p.Pro313Leu" "" "Unknown" "" "rs61748434" "0" "" "" "g.42698398G>A" "" "VUS" "" "0000763031" "0" "55" "6" "42666136" "42666136" "subst" "0.000369576" "04036" "PRPH2_000044" "g.42666136G>A" "3/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.938C>T; p.Pro313Leu" "" "Unknown" "" "rs61748434" "0" "" "" "g.42698398G>A" "" "VUS" "" "0000763032" "0" "59" "6" "42666136" "42666137" "del" "0" "04036" "PRPH2_000162" "g.42666136_42666137del" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.937_938delCC; p.Pro313Glyfs*78" "" "Unknown" "" "" "0" "" "" "g.42698398_42698399del" "" "VUS" "" "0000763033" "0" "99" "6" "42666130" "42666130" "del" "0" "04036" "PRPH2_000161" "g.42666130del" "1/170" "{PMID:Glöckle 2014:23591405}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.954delC; p.T315TfsX9" "" "Unknown" "no" "" "0" "" "" "g.42698392del" "" "pathogenic (dominant)" "" "0000763034" "0" "77" "6" "42666128" "42666128" "subst" "8.9351E-5" "04036" "PRPH2_000018" "g.42666128A>C" "1/147" "{PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "Chr6(GRCh37):g.42666128A>C; p.(Trp316Gly)" "" "Germline" "" "" "0" "" "" "g.42698390A>C" "" "likely pathogenic (dominant)" "" "0000763035" "0" "57" "6" "42666128" "42666128" "subst" "8.9351E-5" "04036" "PRPH2_000018" "g.42666128A>C" "1/203" "{PMID:Jin 2008:18310263}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.946T>G; W316G" "" "Unknown" "" "" "0" "" "" "g.42698390A>C" "" "VUS" "" "0000763036" "0" "37" "6" "42666128" "42666128" "subst" "8.9351E-5" "04036" "PRPH2_000018" "g.42666128A>C" "1/76" "{PMID:Lim 2009:19506198}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.946T>G; p.Trp316Gly" "" "Unknown" "no" "" "0" "" "" "g.42698390A>C" "" "likely benign" "" "0000763037" "0" "57" "6" "42666128" "42666128" "subst" "8.9351E-5" "04036" "PRPH2_000018" "g.42666128A>C" "1/696" "{PMID:Kim 2012:23049240}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.946T>G; p.W316G" "" "Unknown" "" "" "0" "" "" "g.42698390A>C" "" "VUS" "" "0000763038" "0" "97" "6" "42666128" "42666128" "subst" "8.9351E-5" "04036" "PRPH2_000018" "g.42666128A>C" "1/130" "{PMID:Huang 2013:23563732}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.946T>G; p.Trp316Gly" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.42698390A>C" "" "pathogenic (dominant)" "" "0000763039" "0" "59" "6" "42666127" "42666127" "subst" "0" "04036" "PRPH2_000160" "g.42666127C>T" "1/28" "{PMID:Felbor 1997:9338584}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.947G>A; p.Trp316*" "" "Unknown" "" "rs121918566" "0" "" "" "g.42698389C>T" "" "VUS" "" "0000763040" "0" "59" "6" "42666113" "42666113" "subst" "0" "04036" "PRPH2_000159" "g.42666113C>A" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.961G>T; p.Glu321*" "" "Unknown" "" "" "0" "" "" "g.42698375C>A" "" "VUS" "" "0000763041" "0" "59" "6" "42666097" "42666100" "del" "0" "04036" "PRPH2_000158" "g.42666097_42666100del" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.974_977delAGCT; p.Lys325Argfs*35" "" "Unknown" "" "" "0" "" "" "g.42698359_42698362del" "" "VUS" "" "0000763042" "0" "59" "6" "42666083" "42666083" "subst" "0" "04036" "PRPH2_000157" "g.42666083G>A" "" "{PMID:Grover 2002:12045052}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "CAG to TAG nucleotide substitution within the coding sequence of exon 3; p.Gln331*" "" "Germline/De novo (untested)" "yes" "rs281865375" "0" "" "" "g.42698345G>A" "" "VUS" "" "0000763043" "0" "55" "6" "42666079" "42666079" "subst" "0" "04036" "PRPH2_000156" "g.42666079A>T" "2/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.995T>A; p.(Val332Glu)" "" "Unknown" "" "rs1582759492" "0" "" "" "g.42698341A>T" "" "VUS" "" "0000763044" "0" "55" "6" "42666079" "42666079" "subst" "0" "04036" "PRPH2_000156" "g.42666079A>T" "2/677" "{PMID:Jespersgaard 2019:30718709}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.995T>A; p.(Val332Glu)" "" "Unknown" "" "rs1582759492" "0" "" "" "g.42698341A>T" "" "VUS" "" "0000763045" "0" "55" "6" "42666079" "42666079" "subst" "0" "04036" "PRPH2_000156" "g.42666079A>T" "1/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.995T>A; p.Val332Glu" "" "Unknown" "" "rs1582759492" "0" "" "" "g.42698341A>T" "" "VUS" "" "0000763046" "0" "15" "6" "42666069" "42666069" "subst" "0" "04036" "PRPH2_000155" "g.42666069C>T" "1/227 cases" "{PMID:Dryja 1997:9331261}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Glu335Glu" "" "Unknown" "" "" "0" "" "" "g.42698331C>T" "" "VUS" "" "0000763047" "0" "55" "6" "42666065" "42666065" "subst" "0" "04036" "PRPH2_000154" "g.42666065C>T" "1/5" "{PMID:Xue 2014:25312462}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.Ala337Thr" "" "Unknown" "" "" "0" "" "" "g.42698327C>T" "" "VUS" "" "0000763048" "0" "55" "6" "42665185" "42665188" "del" "0" "04036" "PRPH2_000153" "g.42665185_42665188del" "1/15 cases" "{PMID:Bareil 1997:9361310}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.2131del4" "" "Unknown" "no" "" "0" "" "" "g.42697447_42697450del" "" "VUS" "" "0000763049" "0" "75" "6" "42689998" "42689998" "subst" "6.09385E-5" "04036" "PRPH2_000292" "g.42689998C>G" "1/9" "{PMID:Strom 2012:22863181}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.W25C" "" "Unknown" "" "" "0" "" "" "g.42722260C>G" "" "likely pathogenic" "" "0000763050" "0" "99" "6" "42689762" "42689765" "del" "0" "04036" "PRPH2_000125" "g.42689762_42689765del" "" "{PMID:Alapati 2014:25082885}, {PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.310-313del(AT); p.Ile104Val (Alapati) / c.310_313del; p.Ile104Valfs*34 (Reeves)" "" "Unknown" "" "" "0" "" "" "g.42722024_42722027del" "" "pathogenic" "" "0000763051" "0" "99" "6" "42689762" "42689765" "del" "0" "04036" "PRPH2_000125" "g.42689762_42689765del" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.310_313del; p.Ile104Valfs*34" "" "Unknown" "" "" "0" "" "" "g.42722024_42722027del" "" "pathogenic" "" "0000763052" "0" "57" "6" "42689802" "42689802" "subst" "6.49968E-5" "04036" "PRPH2_000274" "g.42689802A>T" "" "{PMID:Alpati 2014:25082885}, {PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.271T>A; p.Tyr91Asn (Alapati) / c.271T>A;p.Tyr91Asn (Reeves)" "" "Unknown" "no" "rs747893076" "0" "" "" "g.42722064A>T" "" "VUS" "" "0000763053" "0" "57" "6" "42689802" "42689802" "subst" "6.49968E-5" "04036" "PRPH2_000274" "g.42689802A>T" "2/187" "{PMID:Reeves 2020:32531846}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.271T>A;p.Tyr91Asn" "" "Unknown" "" "rs747893076" "0" "" "" "g.42722064A>T" "" "VUS" "" "0000763054" "11" "77" "6" "42672183" "42672183" "subst" "0" "04036" "PRPH2_000053" "g.42672183A>C" "1/39" "{PMID:Hosono 2018:29844330}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "c.748T>G; p.(C250G)" "" "Unknown" "no" "" "0" "" "" "g.42704445A>C" "" "likely pathogenic" "" "0000763056" "0" "75" "6" "42689998" "42689998" "subst" "6.09385E-5" "04036" "PRPH2_000292" "g.42689998C>G" "1/9" "{PMID:Strom 2012:22863181}, {PMID:Peeters 2021:34411390}, {DOI:Peeters 2021:10.1002/humu.24275}" "" "p.W25C" "" "Unknown" "" "" "0" "" "" "g.42722260C>G" "" "likely pathogenic" "" "0000765568" "0" "90" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic" "" "0000765642" "0" "70" "6" "42672342" "42672342" "subst" "0" "00000" "PRPH2_000062" "g.42672342T>C" "" "{PMID:Yang 2015:26496393}" "" "" "" "Germline" "" "" "0" "" "" "g.42704604T>C" "" "likely pathogenic (dominant)" "" "0000765788" "0" "70" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.42722199G>A" "" "likely pathogenic" "" "0000784122" "0" "50" "6" "42689979" "42689979" "subst" "0.000893684" "03779" "PRPH2_000068" "g.42689979T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs61755767" "0" "" "" "" "" "VUS" "" "0000784184" "0" "90" "6" "42689538" "42689538" "subst" "0" "00000" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.42721800A>G" "" "pathogenic (dominant)" "" "0000785390" "1" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "pathogenic (dominant)" "" "0000785533" "0" "90" "6" "42689537" "42689537" "subst" "0" "00000" "PRPH2_000246" "g.42689537C>A" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.42721799C>A" "" "pathogenic (dominant)" "" "0000785548" "0" "30" "6" "42689774" "42689774" "subst" "8.12889E-6" "00000" "PRPH2_000296" "g.42689774G>A" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.42722036G>A" "" "likely benign" "" "0000786310" "1" "90" "6" "42672285" "42672285" "subst" "0" "00000" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Germline" "" "" "0" "" "" "g.42704547G>A" "" "pathogenic" "" "0000786366" "1" "50" "6" "42672288" "42672288" "subst" "0" "00000" "PRPH2_000297" "g.42672288T>G" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.42704550T>G" "" "VUS" "" "0000786429" "1" "90" "6" "42689615" "42689617" "del" "0" "00000" "PRPH2_000084" "g.42689615_42689617del" "" "{PMID:Consugar 2015:25412400}" "" "461_463delAGA" "" "Germline" "yes" "" "0" "" "" "g.42721877_42721879del" "" "pathogenic (dominant)" "" "0000786440" "1" "90" "6" "42672300" "42672300" "subst" "0" "00000" "PRPH2_000012" "g.42672300A>G" "" "{PMID:Consugar 2015:25412400}" "" "" "" "De novo" "yes" "" "0" "" "" "g.42704562A>G" "" "pathogenic (dominant)" "" "0000786441" "1" "90" "6" "42672300" "42672300" "subst" "0" "00000" "PRPH2_000012" "g.42672300A>G" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.42704562A>G" "" "pathogenic (dominant)" "" "0000786510" "1" "70" "6" "42689580" "42689580" "subst" "0" "00000" "PRPH2_000254" "g.42689580A>G" "" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Germline" "" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic" "" "0000788376" "0" "50" "6" "42689619" "42689619" "subst" "4.06088E-5" "00000" "PRPH2_000065" "g.42689619T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A454G" "" "Germline" "" "rs146703538" "0" "" "" "g.42721881T>C" "" "VUS" "" "0000788441" "0" "50" "6" "42666119" "42666119" "subst" "2.0308E-5" "00000" "PRPH2_000050" "g.42666119A>G" "" "{PMID:Katagiri 2014:25268133}" "" "T955C" "" "Germline" "" "rs139329966" "0" "" "" "g.42698381A>G" "" "VUS" "" "0000788503" "0" "50" "6" "42666119" "42666119" "subst" "2.0308E-5" "00000" "PRPH2_000050" "g.42666119A>G" "" "{PMID:Katagiri 2014:25268133}" "" "T955C" "" "Germline" "" "rs139329966" "0" "" "" "g.42698381A>G" "" "VUS" "" "0000789689" "0" "90" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Jin 2008:18310263}" "" "RDS:499G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000789693" "0" "55" "6" "42672121" "42672123" "del" "0" "00000" "PRPH2_000051" "g.42672121_42672123del" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "g.42704383_42704385del" "" "VUS" "" "0000789694" "0" "70" "6" "42672342" "42672342" "subst" "0" "00000" "PRPH2_000062" "g.42672342T>C" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000789870" "0" "50" "6" "42672345" "42672345" "subst" "0" "00000" "PRPH2_000233" "g.42672345T>A" "" "{PMID:Avela 2019:31087526}" "" "c.586A>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790134" "0" "10" "6" "42689755" "42689755" "del" "0" "00000" "PRPH2_000301" "g.42689755del" "" "{PMID:Lim 2009:19506198}" "" "" "" "Unknown" "" "rs7764439" "0" "" "" "" "" "benign" "" "0000790135" "0" "10" "6" "42689609" "42689609" "subst" "0" "00000" "PRPH2_000300" "g.42689609G>C" "" "{PMID:Lim-2009:19506198}" "" "c.464C G" "" "Unknown" "no" "" "0" "" "" "" "" "benign" "" "0000790136" "0" "10" "6" "42689565" "42689565" "subst" "1.62429E-5" "00000" "PRPH2_000064" "g.42689565C>T" "" "{PMID:Lim-2009:19506198}" "" "c.508G A" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000790137" "0" "10" "6" "42666164" "42666164" "subst" "0.775274" "00000" "PRPH2_000299" "g.42666164G>C" "" "{PMID:Lim 2009:19506198}" "" "" "" "Unknown" "" "rs390659" "0" "" "" "" "" "benign" "" "0000790138" "0" "10" "6" "42666061" "42666061" "subst" "0.776534" "00000" "PRPH2_000298" "g.42666061T>C" "" "{PMID:Lim 2009:19506198}" "" "" "" "Unknown" "" "rs434102" "0" "" "" "" "" "benign" "" "0000790431" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.42721913T>C" "" "likely pathogenic" "" "0000791639" "0" "70" "6" "42672308" "42672308" "subst" "4.87424E-5" "03779" "PRPH2_000028" "g.42672308C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs139185976" "0" "" "" "" "" "likely pathogenic" "" "0000791925" "0" "10" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "6.02%" "{PMID:Bowne 2011:20861475}" "" "IVS2+3A>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000792131" "0" "90" "6" "42689791" "42689791" "" "0" "00000" "PRPH2_000310" "g.(42689791^42689792)C>T" "" "{PMID:Meunier 2011:21269699}" "" "p.W94X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792132" "0" "90" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Meunier 2011:21269699}" "" "p.G167S" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792133" "0" "90" "6" "42689791" "42689791" "" "0" "00000" "PRPH2_000310" "g.(42689791^42689792)C>T" "" "{PMID:Meunier 2011:21269699}" "" "p.W94X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792394" "0" "70" "6" "42672273" "42672273" "subst" "0" "03508" "PRPH2_000023" "g.42672273G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000793798" "0" "70" "6" "42672306" "42672306" "subst" "2.84336E-5" "00000" "PRPH2_000109" "g.42672306C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.625G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793841" "0" "70" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.658C>T" "" "Unknown" "" "rs61755809" "0" "" "" "" "" "likely pathogenic" "" "0000793842" "0" "70" "6" "42672332" "42672332" "subst" "0" "00000" "PRPH2_000110" "g.42672332A>C" "" "{PMID:Zhou-2011:21677794}" "" "c.599T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793843" "0" "70" "6" "42689925" "42689925" "subst" "0" "00000" "PRPH2_000112" "g.42689925C>G" "" "{PMID:Zhou-2011:21677794}" "" "c.148G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793894" "0" "70" "6" "42672297" "42672297" "subst" "0" "00000" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Foote-2019:10480356}" "" "c.634A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793960" "0" "70" "6" "42689679" "42689679" "del" "0" "00000" "PRPH2_000267" "g.42689679delG" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.394delC" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794200" "0" "70" "6" "42672272" "42672277" "del" "0" "03508" "PRPH2_000020" "g.42672272_42672277del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42704534_42704539del" "" "VUS" "ACMG" "0000794250" "0" "90" "6" "42666162" "42666163" "dup" "0" "01807" "PRPH2_000302" "g.42666162_42666163dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42698424_42698425dup" "" "pathogenic" "" "0000794257" "0" "70" "6" "42689574" "42689574" "subst" "0" "03508" "PRPH2_000037" "g.42689574C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794362" "0" "90" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_000322.4:c.658C>T, NP_000313.2:p.(Arg220Trp), NC_000006.11:g.42672273G>A" "" "Germline" "?" "" "0" "" "" "g.42704535G>A" "" "pathogenic" "ACMG" "0000794929" "0" "70" "6" "42666128" "42666128" "subst" "8.9351E-5" "00000" "PRPH2_000018" "g.42666128A>C" "1/336 cases; 1/360 controls" "{PMID:Kim-2012:23049240}" "" "c.946T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794986" "3" "50" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.136C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795019" "3" "10" "6" "42666061" "42666061" "subst" "0.776534" "00000" "PRPH2_000003" "g.42666061T>C" "" "{PMID:Yi-2012:22948568}" "" "c.1013A>G" "" "Unknown" "" "rs434102" "0" "" "" "" "" "benign" "" "0000795020" "0" "10" "6" "42666061" "42666061" "subst" "0.776534" "00000" "PRPH2_000003" "g.42666061T>C" "" "{PMID:Yi-2012:22948568}" "" "c.1013A>G" "" "Unknown" "" "rs434102" "0" "" "" "" "" "benign" "" "0000795021" "3" "10" "6" "42689755" "42689755" "subst" "0.577432" "00000" "PRPH2_000015" "g.42689755A>G" "" "{PMID:Yi-2012:22948568}" "" "c.318T>C" "" "Unknown" "" "rs7764439" "0" "" "" "" "" "benign" "" "0000795022" "0" "10" "6" "42689755" "42689755" "subst" "0.577432" "00000" "PRPH2_000015" "g.42689755A>G" "" "{PMID:Yi-2012:22948568}" "" "c.318T>C" "" "Unknown" "" "rs7764439" "0" "" "" "" "" "benign" "" "0000795023" "3" "10" "6" "42666164" "42666164" "subst" "0.775274" "00000" "PRPH2_000007" "g.42666164G>C" "" "{PMID:Yi-2012:22948568}" "" "c.910C>G" "" "Unknown" "" "rs390659" "0" "" "" "" "" "benign" "" "0000795024" "0" "10" "6" "42666164" "42666164" "subst" "0.775274" "00000" "PRPH2_000007" "g.42666164G>C" "" "{PMID:Yi-2012:22948568}" "" "c.910C>G" "" "Unknown" "" "rs390659" "0" "" "" "" "" "benign" "" "0000795025" "3" "10" "6" "42666145" "42666145" "subst" "0.912259" "00000" "PRPH2_000006" "g.42666145C>T" "" "{PMID:Yi-2012:22948568}" "" "c.929G>A" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000795940" "0" "90" "6" "42689957" "42689957" "subst" "0" "00000" "PRPH2_000286" "g.42689957A>G" "" "{PMID:Schorderet-2013:23484092}" "" "p.PRPH2-L39P" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000796725" "0" "90" "6" "42666154" "42666154" "del" "0" "00000" "PRPH2_000113" "g.42666154del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.920delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796872" "0" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "00000" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Wang-2014:24154662}" "" "c.554T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796946" "0" "70" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Sullivan-2013:23950152}" "" "c.828+3A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796947" "0" "90" "6" "42689684" "42689684" "subst" "0" "00000" "PRPH2_000141" "g.42689684A>G" "" "{PMID:Sullivan-2013:23950152}" "" "c.389T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796948" "0" "70" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Sullivan-2013:23950152}" "" "c.424C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796949" "0" "70" "6" "42672297" "42672297" "subst" "0" "00000" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Sullivan-2013:23950152}" "" "c.634A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796950" "0" "70" "6" "42672285" "42672285" "subst" "0" "00000" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Sullivan-2013:23950152}" "" "c.646C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796951" "0" "70" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Sullivan-2013:23950152}" "" "c.647C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000797124" "0" "90" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Birtel 2018:30543658}" "" "c.422A>G, p.Tyr141Cys" "Heterozygous" "Germline" "yes" "rs61755781" "0" "" "" "g.42721913T>C" "" "pathogenic" "ACMG" "0000797749" "0" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.424C>T, p.(Arg142Trp)" "" "Germline" "?" "" "0" "" "" "g.42721911G>A" "" "pathogenic" "ACMG" "0000797750" "0" "70" "6" "42672216" "42672216" "subst" "0" "00000" "PRPH2_000117" "g.42672216G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.715C>T, p.(Gln239*)" "" "Germline" "?" "" "0" "" "" "g.42704478G>A" "" "likely pathogenic" "ACMG" "0000797751" "0" "90" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.623G>A, p.(Gly208Asp)" "" "Germline" "?" "" "0" "" "" "g.42704570C>T" "" "pathogenic" "ACMG" "0000797752" "0" "70" "6" "42672121" "42672121" "del" "0" "00000" "PRPH2_000182" "g.42672121del" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.811del, p.(Leu271Serfs*7)" "" "Germline" "?" "" "0" "" "" "g.42704383del" "" "likely pathogenic" "ACMG" "0000797755" "0" "70" "6" "42672114" "42672124" "del" "0" "00000" "PRPH2_000181" "g.42672114_42672124del" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.808_818del, p.(Leu270Alafs*27)" "" "Germline" "?" "" "0" "" "" "g.42704376_42704386del" "" "likely pathogenic" "ACMG" "0000797756" "0" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "00000" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.515G>A, p.(Arg172Gln)" "" "Germline" "?" "" "0" "" "" "g.42721820C>T" "" "pathogenic" "ACMG" "0000797757" "0" "70" "6" "42689595" "42689595" "subst" "0" "00000" "PRPH2_000255" "g.42689595G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.478C>T, p.(Gln160*)" "" "Germline" "?" "" "0" "" "" "g.42721857G>A" "" "likely pathogenic" "ACMG" "0000797758" "0" "70" "6" "42672114" "42672124" "del" "0" "00000" "PRPH2_000181" "g.42672114_42672124del" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.808_818del, p.(Leu270Alafs*27)" "" "Germline" "?" "" "0" "" "" "g.42704376_42704386del" "" "likely pathogenic" "ACMG" "0000797759" "0" "70" "6" "42672303" "42672303" "subst" "0" "00000" "PRPH2_000120" "g.42672303G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.628C>T, p.(Pro210Ser)" "" "Germline" "?" "" "0" "" "" "g.42704565G>A" "" "likely pathogenic" "ACMG" "0000797760" "0" "70" "6" "42689798" "42689798" "dup" "0" "00000" "PRPH2_000273" "g.42689798dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.276dup, p.(Arg93Glnfs*84)" "" "Germline" "?" "" "0" "" "" "g.42722060dup" "" "likely pathogenic" "ACMG" "0000797761" "0" "90" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2,ROM1 c.623G>A, p.(Gly208Asp), ROM1 c.629A>T, p.(Asp210Val), ABCA4 c.6230G>A, p.(Arg2077Gln)" "" "Germline" "?" "" "0" "" "" "g.42704570C>T" "" "pathogenic" "ACMG" "0000797767" "0" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "00000" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.515G>A, p.(Arg172Gln)" "" "Germline" "?" "" "0" "" "" "g.42721820C>T" "" "pathogenic" "ACMG" "0000797769" "0" "70" "6" "42672255" "42672255" "subst" "0" "00000" "PRPH2_000202" "g.42672255G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.676C>T, p.(Gln226*), ABCA4 c.5908C>T, p.(Leu1970Phe)" "" "Germline" "?" "" "0" "" "" "g.42704517G>A" "" "likely pathogenic" "ACMG" "0000798055" "0" "50" "6" "42666079" "42666079" "subst" "0" "00000" "PRPH2_000156" "g.42666079A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.995T>A, p.(Val332Glu)" "" "Germline" "?" "" "0" "" "" "g.42698341A>T" "" "VUS" "ACMG" "0000798056" "0" "50" "6" "42666079" "42666079" "subst" "0" "00000" "PRPH2_000156" "g.42666079A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.995T>A, p.(Val332Glu)" "" "Germline" "?" "" "0" "" "" "g.42698341A>T" "" "VUS" "ACMG" "0000798057" "0" "70" "6" "42689556" "42689556" "subst" "0" "00000" "PRPH2_000304" "g.42689556C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.517G>A, p.(Asp173Asn)" "" "Germline" "?" "" "0" "" "" "g.42721818C>T" "" "likely pathogenic" "ACMG" "0000798058" "0" "50" "6" "42672279" "42672279" "subst" "0" "00000" "PRPH2_000210" "g.42672279A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.652T>C, p.(Ser218Pro)" "" "Germline" "?" "" "0" "" "" "g.42704541A>G" "" "VUS" "ACMG" "0000798059" "0" "70" "6" "42672285" "42672285" "subst" "0" "00000" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.646C>T, p.(Pro216Ser)" "" "Germline" "?" "" "0" "" "" "g.42704547G>A" "" "likely pathogenic" "ACMG" "0000798060" "0" "50" "6" "42666136" "42666136" "subst" "0.000369576" "00000" "PRPH2_000044" "g.42666136G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.938C>T, p.(Pro313Leu)" "" "Germline" "?" "" "0" "" "" "g.42698398G>A" "" "VUS" "ACMG" "0000798061" "0" "50" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.658C>T, p.(Arg220Trp)" "" "Germline" "?" "" "0" "" "" "g.42704535G>A" "" "VUS" "ACMG" "0000798477" "0" "50" "6" "42672343" "42672348" "del" "0" "00000" "PRPH2_000303" "g.42672343_42672348del" "" "{PMID:Mezer-2006:16767206}" "" "5bpdel codons 195–196" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000798480" "0" "50" "6" "42689706" "42689706" "subst" "0.000186995" "00000" "PRPH2_000040" "g.42689706G>A" "" "{PMID:Mezer-2006:16767206}" "" "(Arg123Trp)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000798482" "0" "50" "6" "42689590" "42689590" "subst" "0.000381717" "00000" "PRPH2_000075" "g.42689590G>C" "" "{PMID:Mezer-2006:16767206}" "" "(Ile161Met)§" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000802595" "0" "50" "6" "42666141" "42666141" "subst" "4.06138E-5" "01943" "PRPH2_000305" "g.42666141G>T" "" "" "" "PRPH2(NM_000322.4):c.933C>A (p.S311R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802596" "0" "90" "6" "42672298" "42672298" "subst" "0" "01943" "PRPH2_000026" "g.42672298G>T" "" "" "" "PRPH2(NM_000322.4):c.633C>A (p.F211L), PRPH2(NM_000322.5):c.633C>A (p.F211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810864" "0" "70" "6" "42672134" "42672134" "subst" "0" "00000" "PRPH2_000100" "g.42672134C>T" "" "{PMID:Anasagasti-2013:24416769}" "" "p.Gly266Asp" "" "Germline" "yes" "rs62645935" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000810869" "0" "50" "6" "42666020" "42666020" "subst" "0.271682" "00000" "PRPH2_000005" "g.42666020G>A" "" "{PMID:Anasagasti-2013:24416769}" "" "c.*13C>T" "" "Germline" "yes" "rs361524" "0" "" "" "" "" "VUS" "" "0000810883" "0" "50" "6" "42666020" "42666020" "subst" "0.271682" "00000" "PRPH2_000005" "g.42666020G>A" "" "{PMID:Anasagasti-2013:24416769}" "" "c.*13C>T" "" "Germline" "yes" "rs361524" "0" "" "" "" "" "VUS" "" "0000810914" "0" "30" "6" "42690083" "42690083" "subst" "0.00783621" "00000" "PRPH2_000042" "g.42690083T>G" "0.03" "{PMID:Anasagasti-2013:24416769}" "" "c.-11A>C" "" "Germline" "yes" "rs114062933" "0" "" "" "" "" "likely benign (dominant)" "" "0000810939" "0" "50" "6" "42666020" "42666020" "subst" "0.271682" "00000" "PRPH2_000005" "g.42666020G>A" "" "{PMID:Anasagasti-2013:24416769}" "" "c.*13C>T" "" "Germline" "yes" "rs361524" "0" "" "" "" "" "VUS" "" "0000811511" "0" "70" "1" "94487413" "94487413" "subst" "0" "00000" "ABCA4_001338" "g.94487413T>A" "" "{PMID:Kim 2019:31496144}" "" "PRPH2 c.657_662delACGGCC, p.P219_P221delinsP" "error in protein variant annotation" "Germline" "?" "" "0" "" "" "g.94021857T>A" "" "likely pathogenic" "ACMG" "0000811824" "0" "70" "3" "42666128" "42666128" "subst" "0" "00000" "PRPH2_000018" "g.42666128A>C" "" "{PMID:Gao 2019:31054281}" "" "c.946T>G, p.Trp316Gly" "heterozygous" "Germline" "?" "" "0" "" "" "g.42698390A>C" "" "likely pathogenic" "" "0000811864" "0" "70" "1" "42689613" "42689613" "subst" "0" "00000" "PRPH2_000258" "g.42689613T>G" "" "{PMID:Gao 2019:31054281}" "" "c.460A>C, p.Lys154Gln" "heterozygous" "Germline" "?" "" "0" "" "" "g.42721875T>G" "" "likely pathogenic" "" "0000811873" "0" "70" "4" "42666128" "42666128" "subst" "0" "00000" "PRPH2_000018" "g.42666128A>C" "" "{PMID:Gao 2019:31054281}" "" "c.946T>G, p.Trp316Gly" "heterozygous" "Germline" "?" "" "0" "" "" "g.42698390A>C" "" "likely pathogenic" "" "0000815303" "0" "90" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PRPH2:NM_000322 c.G499A, p.G167S" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.42721836C>T" "" "pathogenic" "ACMG" "0000815304" "0" "90" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.499G>A; p.(Gly167Ser)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.42721836C>T" "" "pathogenic" "ACMG" "0000815305" "0" "90" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.499G>A; p.(Gly167Ser)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.42721836C>T" "" "pathogenic" "ACMG" "0000815323" "0" "90" "6" "42689714" "42689723" "del" "0" "00000" "PRPH2_000306" "g.42689714_42689723del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.356_365del; p.(Cys119Phefs*17)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.42721976_42721985del" "" "pathogenic" "ACMG" "0000815324" "0" "90" "6" "42689714" "42689723" "del" "0" "00000" "PRPH2_000306" "g.42689714_42689723del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PRPH2:NM_000322 c.356_365del, p.C119fs" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.42721976_42721985del" "" "pathogenic" "ACMG" "0000815373" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PRPH2:NM_000322 c.C514T, p.R172W" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "ACMG" "0000815948" "0" "90" "6" "42689961" "42689961" "del" "0" "00000" "PRPH2_000288" "g.42689961del" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.113del, p.Gly38AspfsTer4" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42722223del" "" "pathogenic" "" "0000816100" "0" "70" "6" "42666208" "42666208" "subst" "0.000649741" "00000" "PRPH2_000009" "g.42666208G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.866C>T, p.Ser289Leu" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.42698470G>A" "" "likely pathogenic" "" "0000816118" "0" "70" "6" "42672285" "42672285" "subst" "0" "00000" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.646C>T, p.Pro216Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704547G>A" "" "likely pathogenic" "" "0000816131" "0" "70" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.658C>T, p.Arg220Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704535G>A" "" "likely pathogenic" "" "0000816138" "0" "70" "6" "42672289" "42672289" "subst" "0" "00000" "PRPH2_000215" "g.42672289G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.642C>A, p.Cys214Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704551G>T" "" "likely pathogenic" "" "0000816142" "0" "70" "6" "42672269" "42672269" "subst" "0" "00000" "PRPH2_000135" "g.42672269G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.662C>T, p.Pro221Leu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704531G>A" "" "likely pathogenic" "" "0000816145" "0" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "00000" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.554T>C, p.Leu185Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721781A>G" "" "pathogenic" "" "0000816153" "0" "50" "6" "42672237" "42672237" "subst" "0" "00000" "PRPH2_000313" "g.42672237C>G" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.694G>C, p.Ala232Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704499C>G" "" "VUS" "" "0000816184" "0" "70" "6" "42672102" "42672102" "subst" "0" "00000" "PRPH2_000311" "g.42672102C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.828+1G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704364C>A" "" "likely pathogenic" "" "0000816217" "0" "70" "6" "42689563" "42689563" "dup" "0" "00000" "PRPH2_000124" "g.42689563dup" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.513dup, p.Arg172SerfsTer5" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721825dup" "" "likely pathogenic" "" "0000816221" "0" "50" "6" "42672100" "42672100" "subst" "4.28798E-6" "00000" "PRPH2_000132" "g.42672100T>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.828+3A>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704362T>A" "" "VUS" "" "0000816233" "0" "50" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPH2 c.623G>A, p.Gly208Asp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704570C>T" "" "VUS" "" "0000816381" "0" "50" "6" "42672137" "42672137" "subst" "0" "00000" "PRPH2_000312" "g.42672137A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.794T>C, p.Met265Thr" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704399A>G" "" "VUS" "" "0000816423" "0" "50" "6" "42689536" "42689536" "subst" "4.06108E-6" "00000" "PRPH2_000245" "g.42689536C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.537G>T, p.Trp179Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721798C>A" "" "VUS" "" "0000816680" "0" "70" "6" "42672279" "42672279" "subst" "0" "00000" "PRPH2_000210" "g.42672279A>G" "" "{PMID:Jauregui 2020:32098976}" "" "PRPH2 c.652T>C, p.S218P" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704541A>G" "" "likely pathogenic" "" "0000817307" "0" "90" "6" "42722134" "42722134" "del" "0" "00000" "PRPH2_000314" "g.42722134del" "" "{PMID:Sun 2020:32100970}" "" "PRPH2 c.205delG, p.Val69CysfsX30, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.42722134del" "" "pathogenic" "ACMG" "0000817498" "0" "50" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Matsui 2015:26393467}" "" "p.Y141C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000819062" "0" "70" "6" "42672267" "42672272" "del" "0" "00000" "PRPH2_000205" "g.42672267_42672272del" "" "{PMID:Dineiro 2020:32483926}" "" "PRPH2 c.660_665del, p.(Pro221_Cys222del)" "heterozygous" "Germline" "?" "" "0" "" "" "g.42704529_42704534del" "" "likely pathogenic" "ACMG" "0000819077" "0" "70" "6" "42689651" "42689651" "del" "0" "00000" "PRPH2_000316" "g.42689651del" "" "{PMID:Dineiro 2020:32483926}" "" "PRPH2 c.422delA, p.(Tyr141Serfs*12)" "heterozygous" "Germline" "?" "" "0" "" "" "g.42721913del" "" "likely pathogenic" "ACMG" "0000819078" "0" "70" "6" "42689652" "42689652" "subst" "0" "00000" "PRPH2_000262" "g.42689652A>G" "" "{PMID:Dineiro 2020:32483926}" "" "PRPH2 c.421T>C, p.(Tyr141His)" "heterozygous" "Germline" "?" "" "0" "" "" "g.42721914A>G" "" "likely pathogenic" "ACMG" "0000819080" "0" "70" "6" "42689536" "42689536" "subst" "0" "00000" "PRPH2_000315" "g.42689536C>T" "" "{PMID:Dineiro 2020:32483926}" "" "PRPH2 c.537G>A, p.(Trp179*)" "heterozygous" "Germline" "?" "" "0" "" "" "g.42721798C>T" "" "likely pathogenic" "ACMG" "0000819431" "1" "70" "6" "42672351" "42672351" "subst" "0" "00000" "PRPH2_000032" "g.42672351T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.582-2A>T/p.?" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704613T>A" "" "likely pathogenic" "" "0000819480" "1" "70" "6" "42666170" "42666170" "subst" "0" "00000" "PRPH2_000317" "g.42666170C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.904G>T/p.E302*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42698432C>A" "" "likely pathogenic" "" "0000819492" "1" "70" "6" "42689563" "42689563" "dup" "0" "00000" "PRPH2_000124" "g.42689563dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.513dup/p.R172Sfs*5" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721825dup" "" "likely pathogenic" "" "0000819497" "1" "70" "6" "42689800" "42689800" "subst" "0" "00000" "PRPH2_000328" "g.42689800A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.273T>A/p.Y91*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42722062A>T" "" "likely pathogenic" "" "0000819505" "1" "70" "6" "42666208" "42666208" "subst" "0.000649741" "00000" "PRPH2_000009" "g.42666208G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.866C>T/p.S289L" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42698470G>A" "" "likely pathogenic" "" "0000819516" "1" "70" "6" "42672319" "42672319" "subst" "0" "00000" "PRPH2_000091" "g.42672319G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.612C>G/p.Y204*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704581G>C" "" "likely pathogenic" "" "0000819542" "1" "70" "6" "42672195" "42672195" "subst" "0" "00000" "PRPH2_000195" "g.42672195A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.736T>C/p.W246R" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704457A>G" "" "likely pathogenic" "" "0000819563" "1" "70" "6" "42672350" "42672350" "subst" "0" "00000" "PRPH2_000324" "g.42672350C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.582-1G>C/p.?" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704612C>G" "" "likely pathogenic" "" "0000819685" "1" "70" "6" "42666208" "42666208" "subst" "0.000649741" "00000" "PRPH2_000009" "g.42666208G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.866C>T/p.S289L" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42698470G>A" "" "likely pathogenic" "" "0000819686" "1" "70" "6" "42666208" "42666208" "subst" "0.000649741" "00000" "PRPH2_000009" "g.42666208G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.866C>T/p.S289L" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42698470G>A" "" "likely pathogenic" "" "0000819687" "1" "70" "6" "42666208" "42666208" "subst" "0.000649741" "00000" "PRPH2_000009" "g.42666208G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.866C>T/p.S289L" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42698470G>A" "" "likely pathogenic" "" "0000819767" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819768" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819843" "1" "70" "6" "42666130" "42666130" "del" "0" "00000" "PRPH2_000161" "g.42666130del" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.945del/p.W316Gfs*9" "error in annotation, protein change should be p.(Trp316Glyfs*8) and not p.(Trp316Glyfs*9), solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42698392del" "" "likely pathogenic" "" "0000819864" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819927" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819928" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819929" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819939" "1" "70" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.623G>A/p.G208D" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42704570C>T" "" "likely pathogenic" "" "0000819940" "1" "70" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.623G>A/p.G208D" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42704570C>T" "" "likely pathogenic" "" "0000819970" "1" "70" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.623G>A/p.G208D" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704570C>T" "" "likely pathogenic" "" "0000819971" "1" "70" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.623G>A/p.G208D" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704570C>T" "" "likely pathogenic" "" "0000819974" "1" "70" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.499G>A/p.G167S" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721836C>T" "" "likely pathogenic" "" "0000819976" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819977" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819988" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000819999" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000820000" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000820010" "1" "70" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.499G>A/p.G167S" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721836C>T" "" "likely pathogenic" "" "0000820065" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000820117" "1" "70" "6" "42672278" "42672278" "subst" "4.06105E-6" "00000" "PRPH2_000321" "g.42672278G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.653C>T/p.S218L" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704540G>A" "" "likely pathogenic" "" "0000820118" "1" "70" "6" "42666126" "42666126" "subst" "0" "00000" "PRPH2_000081" "g.42666126C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.948G>A/p.W316*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42698388C>T" "" "likely pathogenic" "" "0000820142" "1" "70" "6" "42689558" "42689558" "subst" "4.06085E-6" "00000" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.515G>A/p.R172Q" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721820C>T" "" "likely pathogenic" "" "0000820152" "1" "70" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.136C>T/p.R46*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42722199G>A" "" "likely pathogenic" "" "0000820166" "1" "70" "6" "42689742" "42689742" "del" "0" "00000" "PRPH2_000327" "g.42689742del" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.331del/p.I111Sfs*28" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42722004del" "" "likely pathogenic" "" "0000820169" "1" "70" "6" "42672278" "42672278" "subst" "4.06105E-6" "00000" "PRPH2_000321" "g.42672278G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.653C>T/p.S218L" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704540G>A" "" "likely pathogenic" "" "0000820206" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000820218" "1" "70" "6" "42689615" "42689617" "del" "0" "00000" "PRPH2_000084" "g.42689615_42689617del" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.461_463del/p.K154del" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721877_42721879del" "" "likely pathogenic" "" "0000820219" "1" "70" "6" "42689615" "42689617" "del" "0" "00000" "PRPH2_000084" "g.42689615_42689617del" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.461_463del/p.K154del" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42721877_42721879del" "" "likely pathogenic" "" "0000820221" "1" "70" "6" "42689696" "42689696" "subst" "0" "00000" "PRPH2_000077" "g.42689696A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.377T>C/p.L126P" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721958A>G" "" "likely pathogenic" "" "0000820246" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000820275" "1" "70" "6" "42689558" "42689558" "subst" "4.06085E-6" "00000" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.515G>A/p.R172Q" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721820C>T" "" "likely pathogenic" "" "0000820299" "1" "70" "6" "42672134" "42672134" "subst" "0" "00000" "PRPH2_000100" "g.42672134C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.797G>A/p.G266D" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42704396C>T" "" "likely pathogenic" "" "0000820300" "1" "70" "6" "42672134" "42672134" "subst" "0" "00000" "PRPH2_000100" "g.42672134C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.797G>A/p.G266D" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.42704396C>T" "" "likely pathogenic" "" "0000820301" "1" "70" "6" "42689632" "42689632" "del" "4.06108E-6" "00000" "PRPH2_000002" "g.42689632del" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.441del/p.G148Afs*5" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721894del" "" "likely pathogenic" "" "0000820306" "1" "70" "6" "42672243" "42672246" "del" "0" "00000" "PRPH2_000320" "g.42672243_42672246del" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.686_689del/p.N229Tfs*26" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704505_42704508del" "" "likely pathogenic" "" "0000820308" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.514C>T/p.R172W" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000820326" "1" "70" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1 :Deletion exon 2" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000820368" "1" "70" "6" "42689609" "42689612" "delins" "0" "00000" "PRPH2_000326" "g.42689609_42689612delinsAGACCA" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.461_464delinsTGGTCT/ p.K154Mfs*103" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721871_42721874delinsAGACCA" "" "likely pathogenic" "" "0000820372" "1" "70" "6" "42672239" "42672239" "subst" "0" "00000" "PRPH2_000319" "g.42672239G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.692C>A/p.S231*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704501G>T" "" "likely pathogenic" "" "0000820373" "1" "70" "6" "42672239" "42672239" "subst" "0" "00000" "PRPH2_000319" "g.42672239G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.692C>A/p.S231*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704501G>T" "" "likely pathogenic" "" "0000820395" "1" "70" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.499G>A/p.G167S" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721836C>T" "" "likely pathogenic" "" "0000820408" "1" "70" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.647C>T/p.P216L" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704546G>A" "" "likely pathogenic" "" "0000820410" "1" "70" "6" "42672193" "42672193" "subst" "0" "00000" "PRPH2_000318" "g.42672193C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.738G>A/p.W246*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704455C>T" "" "likely pathogenic" "" "0000820537" "1" "70" "6" "42689574" "42689574" "subst" "0" "00000" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.499G>A/p.G167S" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721836C>T" "" "likely pathogenic" "" "0000820554" "1" "70" "6" "42689609" "42689612" "delins" "0" "00000" "PRPH2_000326" "g.42689609_42689612delinsAGACCA" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.461_464delinsTGGTCT/ p.K154Mfs*103" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721871_42721874delinsAGACCA" "" "likely pathogenic" "" "0000820560" "1" "70" "6" "42672278" "42672278" "subst" "0" "00000" "PRPH2_000209" "g.42672278G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPH2, variant 1: c.653C>A/p.S218*" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.42704540G>T" "" "likely pathogenic" "" "0000821015" "0" "70" "6" "42689929" "42689929" "subst" "0" "00000" "PRPH2_000329" "g.42689929C>A" "1/64" "{PMID:Liu 2020:32562694}" "" "PRPH2 c.144G>T, p.Arg48Ser" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.42722191C>A" "" "likely pathogenic" "" "0000821344" "0" "70" "6" "42666207" "42666214" "del" "0" "00000" "PRPH2_000107" "g.42666207_42666214del" "" "{PMID:Turro 2020:32581362}" "" "PRPH2 c.860_867delAGACGTCG, p.Gln287ProfsTer11" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.42698469_42698476del" "" "likely pathogenic" "" "0000821345" "0" "70" "6" "42672297" "42672297" "subst" "0" "00000" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Turro 2020:32581362}" "" "PRPH2 c.634A>G, p.Ser212Gly" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.42704559T>C" "" "likely pathogenic" "" "0000821346" "0" "90" "6" "42689807" "42689814" "del" "0" "00000" "PRPH2_000111" "g.42689807_42689814del" "" "{PMID:Turro 2020:32581362}" "" "PRPH2 c.259_266delGACCCAGC, p.Asp87GlnfsTer87" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.42722069_42722076del" "" "pathogenic" "" "0000821347" "0" "70" "6" "42672308" "42672308" "subst" "4.87424E-5" "00000" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Turro 2020:32581362}" "" "PRPH2 c.623G>A, p.Gly208Asp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.42704570C>T" "" "likely pathogenic" "" "0000822047" "0" "70" "6" "42689940" "42689940" "subst" "0.00100343" "00000" "PRPH2_000079" "g.42689940G>A" "" "{PMID:Habibi 2020:32641690}" "" "PRPH2 c.[133C > T];[ =], p.[L45F];[ =]" "heterozygous" "Germline" "yes" "" "0" "" "" "g.42722202G>A" "" "likely pathogenic" "" "0000822197" "1" "70" "6" "42689979" "42689979" "subst" "0.000893684" "00000" "PRPH2_000068" "g.42689979T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.94A>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822214" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822215" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822226" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822241" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822250" "1" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822253" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822254" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822298" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822301" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822372" "0" "70" "6" "42689561" "42689561" "subst" "0" "00000" "PRPH2_000325" "g.42689561A>C" "" "{PMID:Maggi_2021:33546218}" "" "c.512T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822393" "0" "70" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.424C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822411" "0" "70" "6" "42672326" "42672326" "subst" "0" "00000" "PRPH2_000323" "g.42672326C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.605G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822422" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.422A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822429" "0" "70" "6" "42672305" "42672320" "del" "0" "00000" "PRPH2_000322" "g.42672305_42672320del" "" "{PMID:Maggi_2021:33546218}" "" "c.611_626del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822430" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.422A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822437" "0" "70" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.422A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822440" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822455" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.514C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822716" "0" "70" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.424C>T, p.Arg142Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721911G>A" "" "likely pathogenic" "" "0000822717" "0" "70" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.2T>C, p.Met1?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42722333A>G" "" "likely pathogenic" "" "0000822718" "0" "70" "6" "42689762" "42689765" "del" "0" "00000" "PRPH2_000125" "g.42689762_42689765del" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.310_313del, p.Ile104fs" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42722024_42722027del" "" "likely pathogenic" "" "0000822719" "0" "70" "6" "42672160" "42672160" "subst" "0" "00000" "PRPH2_000115" "g.42672160G>C" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.771C>G, p.Tyr257*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704422G>C" "" "likely pathogenic" "" "0000822720" "0" "70" "6" "42689558" "42689558" "subst" "4.06085E-6" "00000" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.515G>A, p.Arg172Gln" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721820C>T" "" "likely pathogenic" "" "0000822721" "0" "70" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.2T>C, p.Met1?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42722333A>G" "" "likely pathogenic" "" "0000822722" "0" "70" "6" "42689632" "42689632" "del" "4.06108E-6" "00000" "PRPH2_000002" "g.42689632del" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.441del, p.Gly148Alafs*5" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721894del" "" "likely pathogenic" "" "0000822723" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.514C>T, p.Arg172Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic" "" "0000822724" "0" "70" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.658C>T, p.Arg220Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704535G>A" "" "likely pathogenic" "" "0000822726" "0" "70" "6" "42672305" "42672305" "subst" "0" "00000" "PRPH2_000121" "g.42672305A>T" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.626T>A, p.Val209Asp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704567A>T" "" "likely pathogenic" "" "0000822727" "0" "70" "6" "42689632" "42689632" "del" "4.06108E-6" "00000" "PRPH2_000002" "g.42689632del" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.441del, p.Gly148Alafs*5" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721894del" "" "likely pathogenic" "" "0000822728" "0" "70" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.2T>C, Met1?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42722333A>G" "" "likely pathogenic" "" "0000822729" "0" "70" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.2T>C, p.Met1?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42722333A>G" "" "likely pathogenic" "" "0000822730" "0" "70" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.424C>T, p.Arg142Trp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721911G>A" "" "likely pathogenic" "" "0000822731" "0" "70" "6" "42672216" "42672216" "subst" "0" "00000" "PRPH2_000117" "g.42672216G>A" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.715C>T, p.Gln239*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704478G>A" "" "likely pathogenic" "" "0000822732" "0" "70" "6" "42666154" "42666154" "del" "0" "00000" "PRPH2_000113" "g.42666154del" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.920del, p.Leu307Argfs*17" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42698416del" "" "likely pathogenic" "" "0000822733" "0" "70" "6" "42689502" "42689502" "subst" "0" "00000" "PRPH2_000123" "g.42689502C>A" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.571G>T, p.Glu191*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721764C>A" "" "likely pathogenic" "" "0000822734" "0" "70" "6" "42672182" "42672182" "subst" "0" "00000" "PRPH2_000116" "g.42672182C>T" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.749G>A, p.Cys250Tyr" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704444C>T" "" "likely pathogenic" "" "0000822735" "0" "70" "6" "42672182" "42672182" "subst" "0" "00000" "PRPH2_000116" "g.42672182C>T" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.749G>A, p.Cys250Tyr" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704444C>T" "" "likely pathogenic" "" "0000822736" "0" "70" "6" "42689937" "42689937" "subst" "1.62499E-5" "00000" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.136C>T, p.Arg46*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42722199G>A" "" "likely pathogenic" "" "0000822737" "0" "70" "6" "42690071" "42690071" "subst" "0" "00000" "PRPH2_000128" "g.42690071A>G" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.2T>C, p.Met1?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42722333A>G" "" "likely pathogenic" "" "0000824396" "0" "90" "6" "42666162" "42666162" "del" "0" "00000" "PRPH2_000167" "g.42666162del" "" "{PMID:Xiao-2021:33598457}" "" "PRPH2 c.914delG, p.(G305Afs*19)" "" "Unknown" "yes" "" "0" "" "" "g.42698424del" "" "pathogenic" "ACMG" "0000824685" "0" "50" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Ma 2021:33691693}" "" "PRPH2 c.C514T, p.R172W" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721821G>A" "" "VUS" "ACMG" "0000824716" "0" "50" "6" "42689538" "42689538" "subst" "0" "00000" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Ma 2021:33691693}" "" "PRPH2 c.T535C, p.W179R" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.42721800A>G" "" "VUS" "ACMG" "0000824928" "3" "70" "6" "42666164" "42666164" "subst" "0.775274" "00000" "PRPH2_000007" "g.42666164G>C" "" "{PMID:Donato-2021:33801777}" "" "PRPH2 c.910 C > G, p.Gln304Glu, rs390659" "homozygous" "Germline" "yes" "rs390659" "0" "" "" "g.42698426G>C" "" "likely pathogenic" "" "0000824929" "3" "70" "6" "42666164" "42666164" "subst" "0.775274" "00000" "PRPH2_000007" "g.42666164G>C" "" "{PMID:Donato-2021:33801777}" "" "PRPH2 c.910 C > G, p.Gln304Glu, rs390659" "homozygous" "Germline" "yes" "rs390659" "0" "" "" "g.42698426G>C" "" "likely pathogenic" "" "0000824930" "3" "70" "6" "42666061" "42666061" "subst" "0.776534" "00000" "PRPH2_000003" "g.42666061T>C" "" "{PMID:Donato-2021:33801777}" "" "PRPH2 c.1013 A > G, p.Asp338Gly, rs434102" "homozygous" "Germline" "yes" "rs434102" "0" "" "" "g.42698323T>C" "" "likely pathogenic" "" "0000824931" "3" "70" "6" "42666145" "42666145" "subst" "0.912259" "00000" "PRPH2_000006" "g.42666145C>T" "" "{PMID:Donato-2021:33801777}" "" "PRPH2 c.929 G > A, p.Arg310Lys, rs425876" "homozygous; also in the father" "Germline" "yes" "rs425876" "0" "" "" "g.42698407C>T" "" "likely pathogenic" "" "0000824934" "3" "70" "6" "42666061" "42666061" "subst" "0.776534" "00000" "PRPH2_000003" "g.42666061T>C" "" "{PMID:Donato-2021:33801777}" "" "PRPH2 c.1013 A > G, p.Asp338Gly, rs434102" "homozygous" "Germline" "yes" "rs434102" "0" "" "" "g.42698323T>C" "" "likely pathogenic" "" "0000824935" "3" "70" "6" "42666145" "42666145" "subst" "0.912259" "00000" "PRPH2_000006" "g.42666145C>T" "" "{PMID:Donato-2021:33801777}" "" "PRPH2 c.929 G > A, p.Arg310Lys, rs425876" "homozygous; also in the father" "Germline" "yes" "rs425876" "0" "" "" "g.42698407C>T" "" "likely pathogenic" "" "0000825522" "0" "50" "6" "42689540" "42689540" "subst" "0" "00000" "PRPH2_000103" "g.42689540T>C" "" "{PMID:Ng 2021:33846575}" "" "PRPH2 c.533A>G, p.Q178R" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.42721802T>C" "" "VUS" "" "0000825523" "0" "50" "6" "42689649" "42689649" "subst" "1.62463E-5" "00000" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Ng 2021:33846575}" "" "PRPH2 c.424C>T, p.R142W" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.42721911G>A" "" "VUS" "" "0000825524" "0" "50" "6" "42689540" "42689540" "subst" "0" "00000" "PRPH2_000103" "g.42689540T>C" "" "{PMID:Ng 2021:33846575}" "" "PRPH2 c.533A>G, p.Q178R" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.42721802T>C" "" "VUS" "" "0000825708" "0" "70" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Liu-2020:33090715}" "" "c.658C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000825976" "0" "70" "6" "42689727" "42689727" "subst" "4.06564E-6" "00000" "PRPH2_000066" "g.42689727C>A" "" "{PMID:Liu-2020:33090715}" "" "c.346G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000826017" "0" "70" "6" "42672266" "42672266" "subst" "0" "00000" "PRPH2_000203" "g.42672266C>G" "" "{PMID:Liu-2020:33090715}" "" "c.665G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000827149" "0" "90" "6" "42689615" "42689615" "subst" "0" "00000" "PRPH2_000038" "g.42689615T>C" "" "{PMID:Colombo-2020:33576794}" "" "c.458A>G" "" "Germline" "" "rs61755785" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827150" "0" "90" "6" "42689538" "42689538" "subst" "0" "00000" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Colombo-2020:33576794}" "" "c.535T>C" "" "Germline" "" "rs61755796" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827151" "0" "90" "6" "42672284" "42672284" "subst" "4.06118E-6" "00000" "PRPH2_000089" "g.42672284G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.647C>T" "" "Germline" "" "rs61755806" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827152" "0" "90" "6" "42672288" "42672288" "subst" "0" "00000" "PRPH2_000297" "g.42672288T>G" "" "{PMID:Colombo-2020:33576794}" "" "c.643A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827153" "0" "90" "6" "42689538" "42689538" "subst" "0" "00000" "PRPH2_000330" "g.42689538A>C" "" "{PMID:Colombo-2020:33576794}" "" "c.535T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000828104" "0" "90" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Buhler 2021:34073554}" "" "PRPH2 c.422A>G, p.(Tyr141Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721913T>C" "" "pathogenic" "ACMG" "0000828105" "0" "90" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Buhler 2021:34073554}" "" "PRPH2 c.422A>G, p.(Tyr141Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721913T>C" "" "pathogenic" "ACMG" "0000828106" "0" "90" "6" "42689651" "42689651" "subst" "0" "00000" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Buhler 2021:34073554}" "" "PRPH2 c.422A>G, p.(Tyr141Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721913T>C" "" "pathogenic" "ACMG" "0000828329" "0" "70" "6" "42689881" "42689881" "dup" "0" "00000" "PRPH2_000336" "g.42689881dup" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.192dup, p.(Ile65AspfsTer112)" "" "Germline" "yes" "" "0" "" "" "g.42722143dup" "" "likely pathogenic" "" "0000828330" "0" "70" "6" "42689881" "42689881" "dup" "0" "00000" "PRPH2_000336" "g.42689881dup" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.192dup, p.(Ile65AspfsTer112)" "" "Germline" "yes" "" "0" "" "" "g.42722143dup" "" "likely pathogenic" "" "0000828331" "0" "90" "6" "42689705" "42689705" "del" "0" "00000" "PRPH2_000269" "g.42689705del" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.371del, p.(Gly124AlafsTer15)" "" "Germline" "yes" "" "0" "" "" "g.42721967del" "" "pathogenic" "" "0000828332" "0" "90" "6" "42689705" "42689705" "del" "0" "00000" "PRPH2_000269" "g.42689705del" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.371del, p.(Gly124AlafsTer15)" "" "Germline" "yes" "" "0" "" "" "g.42721967del" "" "pathogenic" "" "0000828333" "0" "90" "6" "42689705" "42689705" "del" "0" "00000" "PRPH2_000269" "g.42689705del" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.371del, p.(Gly124AlafsTer15)" "" "Unknown" "?" "" "0" "" "" "g.42721967del" "" "pathogenic" "" "0000828334" "0" "70" "6" "42672302" "42672302" "subst" "0" "00000" "PRPH2_000101" "g.42672302G>C" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.629C>G, p.(Pro210Arg)" "" "Unknown" "?" "" "0" "" "" "g.42704564G>C" "" "likely pathogenic" "" "0000828335" "0" "70" "6" "42672279" "42672279" "subst" "0" "00000" "PRPH2_000210" "g.42672279A>G" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.652T>C, p.(Ser218Pro)" "" "Germline" "yes" "" "0" "" "" "g.42704541A>G" "" "likely pathogenic" "" "0000828336" "0" "70" "6" "42672279" "42672279" "subst" "0" "00000" "PRPH2_000210" "g.42672279A>G" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.652T>C, p.(Ser218Pro)" "" "Germline" "yes" "" "0" "" "" "g.42704541A>G" "" "likely pathogenic" "" "0000828337" "0" "70" "6" "42672197" "42672197" "dup" "0" "00000" "PRPH2_000331" "g.42672197dup" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.734dup, p.(Trp246ValfsTer55)" "" "Germline" "yes" "" "0" "" "" "g.42704459dup" "" "likely pathogenic" "" "0000828338" "0" "70" "6" "42672197" "42672197" "dup" "0" "00000" "PRPH2_000331" "g.42672197dup" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.734dup, p.(Trp246ValfsTer55)" "" "Germline" "yes" "" "0" "" "" "g.42704459dup" "" "likely pathogenic" "" "0000828339" "0" "70" "6" "42672197" "42672197" "dup" "0" "00000" "PRPH2_000331" "g.42672197dup" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.734dup, p.(Trp246ValfsTer55)" "" "Unknown" "?" "" "0" "" "" "g.42704459dup" "" "likely pathogenic" "" "0000828340" "0" "90" "6" "42672157" "42672157" "subst" "0" "00000" "PRPH2_000185" "g.42672157G>T" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.774C>A, p.(Tyr258Ter)" "" "Unknown" "?" "" "0" "" "" "g.42704419G>T" "" "pathogenic" "" "0000828341" "0" "90" "6" "42672272" "42672272" "subst" "8.12189E-6" "00000" "PRPH2_000021" "g.42672272C>T" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.659G>A, p.(Arg220Gln)" "" "Germline" "yes" "" "0" "" "" "g.42704534C>T" "" "pathogenic" "" "0000828342" "0" "90" "6" "42672272" "42672272" "subst" "8.12189E-6" "00000" "PRPH2_000021" "g.42672272C>T" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.659G>A, p.(Arg220Gln)" "" "Germline" "yes" "" "0" "" "" "g.42704534C>T" "" "pathogenic" "" "0000828343" "0" "90" "6" "42672272" "42672272" "subst" "8.12189E-6" "00000" "PRPH2_000021" "g.42672272C>T" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.659G>A, p.(Arg220Gln)" "" "Unknown" "?" "" "0" "" "" "g.42704534C>T" "" "pathogenic" "" "0000828344" "0" "70" "6" "42689580" "42689580" "subst" "0" "00000" "PRPH2_000254" "g.42689580A>G" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.493T>C, p.(Cys165Arg)" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic" "" "0000828345" "0" "70" "6" "42689580" "42689580" "subst" "0" "00000" "PRPH2_000254" "g.42689580A>G" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.493T>C, p.(Cys165Arg)" "" "Germline" "yes" "" "0" "" "" "g.42721842A>G" "" "likely pathogenic" "" "0000828346" "0" "50" "6" "42672263" "42672263" "subst" "0" "00000" "PRPH2_000080" "g.42672263A>T" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.668T>A, p.(Ile223Asn)" "" "Unknown" "?" "" "0" "" "" "g.42704525A>T" "" "VUS" "" "0000828347" "0" "50" "6" "42689742" "42689756" "del" "0" "00000" "PRPH2_000335" "g.42689742_42689756del" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.318_332del, p.(Asn109_Phe113del)" "" "Unknown" "?" "" "0" "" "" "g.42722004_42722018del" "" "VUS" "" "0000828348" "0" "50" "6" "42672278" "42672278" "subst" "4.06105E-6" "00000" "PRPH2_000321" "g.42672278G>A" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.653C>T, p.(Ser218Leu)" "" "Unknown" "?" "" "0" "" "" "g.42704540G>A" "" "VUS" "" "0000828349" "0" "70" "6" "42689699" "42689699" "subst" "4.06564E-6" "00000" "PRPH2_000094" "g.42689699G>A" "" "{PMID:Sodi 2021:34240658}" "" "PRPH2 c.374C>T, p.(Ser125Leu)" "" "Unknown" "?" "" "0" "" "" "g.42721961G>A" "" "likely pathogenic" "" "0000828877" "0" "90" "6" "42689692" "42689701" "delins" "0" "00000" "PRPH2_000334" "g.42689692_42689701delinsTCAGCTT" "" "{PMID:Chen 2021:43360855}" "" "PRPH2 c.[372_381del];[372_381=], V1: c.372_381delCTCGCTGGAGinsAAGCTGA, (p.Leu126Ter)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721954_42721963delinsTCAGCTT" "" "pathogenic" "ACMG" "0000828878" "0" "90" "6" "42689636" "42689636" "del" "0" "00000" "PRPH2_000333" "g.42689636del" "" "{PMID:Chen 2021:43360855}" "" "PRPH2 c.[440del];[440=], V1: c.440delC, (p.Pro147LeufsTer6)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721898del" "" "pathogenic" "ACMG" "0000828892" "0" "90" "6" "42689537" "42689537" "subst" "0" "00000" "PRPH2_000332" "g.42689537C>T" "" "{PMID:Chen 2021:43360855}" "" "PRPH2 c.[536G>A];[536=], V1: c.536G>A, (p.Trp179Ter)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42721799C>T" "" "pathogenic" "ACMG" "0000829623" "0" "90" "6" "42672337" "42672337" "subst" "0" "00000" "PRPH2_000092" "g.42672337G>C" "" "{PMID:Becirovic-2016:26796962}" "" "c.594C>G/p.S198R" "leads to autosomal dominant retinitis pigmentosa (adRP)" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829624" "0" "90" "6" "42672302" "42672302" "subst" "0" "00000" "PRPH2_000060" "g.42672302G>A" "" "{PMID:Becirovic-2016:26796962}" "" "c.629C>T/p.P210L" "leads to autosomal dominant retinitis pigmentosa (adRP)" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829625" "0" "90" "6" "42672290" "42672290" "subst" "0" "00000" "PRPH2_000216" "g.42672290C>G" "" "{PMID:Becirovic-2016:26796962}" "" "c.641G>C/p.C214S" "leads to autosomal dominant retinitis pigmentosa (adRP)" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829626" "0" "90" "6" "42672255" "42672255" "subst" "0" "00000" "PRPH2_000337" "g.42672255G>C" "" "{PMID:Becirovic-2016:26796962}" "" "c.676C>G/p.Q226E" "leads to autosomal dominant retinitis pigmentosa (adRP)" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829627" "0" "90" "6" "42672195" "42672195" "subst" "0" "00000" "PRPH2_000195" "g.42672195A>G" "" "{PMID:Becirovic-2016:26796962}" "" "c.736T>C/p.W246R" "leads to autosomal dominant retinitis pigmentosa (adRP)" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829628" "0" "90" "6" "42672186" "42672186" "subst" "0" "00000" "PRPH2_000192" "g.42672186C>T" "" "{PMID:Becirovic-2016:26796962}" "" "c.745G>A/p.G249S" "leads to autosomal dominant retinitis pigmentosa (adRP)" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829629" "0" "90" "6" "42672306" "42672306" "subst" "2.84336E-5" "00000" "PRPH2_000109" "g.42672306C>T" "" "{PMID:Becirovic-2016:26796962}" "" "c.625G>A/p.V209I" "leads to adult foveomacular vitelliform dystrophy" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829630" "0" "90" "6" "42672296" "42672296" "subst" "0" "00000" "PRPH2_000090" "g.42672296C>G" "" "{PMID:Becirovic-2016:26796962}" "" "c.635G>C/p.S212T" "leads to adult foveomacular vitelliform dystrophy" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829631" "0" "90" "6" "42672347" "42672347" "subst" "4.06838E-6" "00000" "PRPH2_000234" "g.42672347C>A" "" "{PMID:Becirovic-2016:26796962}" "" "c.584G>T/p.R195L" "leads to cone and cone-rod dystrophy" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829632" "0" "90" "6" "42672273" "42672273" "subst" "0" "00000" "PRPH2_000023" "g.42672273G>A" "" "{PMID:Becirovic-2016:26796962}" "" "c.658C>T/p.R220W" "leads to pattern dystrophy" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000829633" "0" "90" "6" "42672272" "42672272" "subst" "8.12189E-6" "00000" "PRPH2_000021" "g.42672272C>T" "" "{PMID:Becirovic-2016:26796962}" "" "c.659G>A/p.R220Q" "leads to pattern dystrophy" "In silico" "" "" "0" "" "" "" "" "pathogenic" "" "0000834543" "0" "50" "6" "42689706" "42689706" "subst" "0.000186995" "00000" "PRPH2_000040" "g.42689706G>A" "" "{PMID:Ng 2019:30948794}" "" "PRPH2 c.367C>T, p.R123W" "heterozygous" "Germline" "no" "" "0" "" "" "g.42721968G>A" "" "VUS" "" "0000844271" "0" "70" "6" "42689559" "42689559" "subst" "0" "00000" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Kohl 2012:22183351}" "" "PRPH2 c.510C>T, p.Arg172Trp" "error in annotation, p.(Arg172Trp) is caused by c.514C>T and not c.510C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.42721821G>A" "" "likely pathogenic (dominant)" "" "0000844272" "0" "70" "6" "42689517" "42689517" "subst" "0" "00000" "PRPH2_000242" "g.42689517C>T" "" "{PMID:Kohl 2012:22183351}" "" "PRPH2 c.556G>A, p.Asp186Asn" "heterozygous" "Germline" "yes" "" "0" "" "" "g.42721779C>T" "" "likely pathogenic (dominant)" "" "0000844273" "0" "70" "6" "42672336" "42672336" "subst" "0" "00000" "PRPH2_000230" "g.42672336T>C" "" "{PMID:Kohl 2012:22183351}" "" "PRPH2 c.595A>G, p.Asn199Asp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42704598T>C" "" "likely pathogenic (dominant)" "" "0000844274" "0" "70" "6" "42666208" "42666208" "subst" "0.000649741" "00000" "PRPH2_000009" "g.42666208G>A" "" "{PMID:Kohl 2012:22183351}" "" "PRPH2 c.866C>T, p.Ser289Leu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42698470G>A" "" "likely pathogenic (dominant)" "" "0000844275" "0" "70" "6" "42672348" "42672348" "subst" "0" "00000" "PRPH2_000236" "g.42672348G>C" "" "{PMID:Kohl 2012:22183351}" "" "PRPH2 c.583C>G, p.Arg195Gly" "heterozygous" "Germline" "yes" "" "0" "" "" "g.42704610G>C" "" "likely pathogenic (dominant)" "" "0000844276" "0" "70" "6" "42666154" "42666154" "del" "0" "00000" "PRPH2_000113" "g.42666154del" "" "{PMID:Kohl 2012:22183351}" "" "PRPH2 c.920delT, p.Leu307ArgfsX*17" "heterozygous" "Germline" "yes" "" "0" "" "" "g.42698416del" "" "likely pathogenic (dominant)" "" "0000846847" "0" "70" "6" "42672182" "42672182" "subst" "0" "03468" "PRPH2_000116" "g.42672182C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000846854" "0" "70" "6" "42689649" "42689649" "subst" "1.62463E-5" "03468" "PRPH2_000001" "g.42689649G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000846900" "21" "50" "6" "42672345" "42672345" "subst" "0" "00000" "PRPH2_000233" "g.42672345T>A" "Not in gnomAD or HGMD" "{PMID:Avela 2019:31087526}" "" "PRPH2 c.586A>T , p.(Ile196Phe)" "heterozygous (VUS), present in unaffected mother" "Germline" "yes" "" "0" "" "" "g.42704607T>A" "" "VUS" "" "0000851231" "0" "50" "6" "42672275" "42672275" "subst" "1.21826E-5" "02327" "PRPH2_000208" "g.42672275G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851232" "0" "50" "6" "42672303" "42672303" "subst" "0" "02327" "PRPH2_000120" "g.42672303G>A" "" "" "" "PRPH2(NM_000322.5):c.628C>T (p.P210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860352" "0" "90" "6" "42672273" "42672273" "del" "0" "01943" "PRPH2_000022" "g.42672273del" "" "" "" "PRPH2(NM_000322.4):c.658delC (p.R220Gfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000880879" "0" "30" "6" "42666164" "42666164" "subst" "0.775274" "00000" "PRPH2_000007" "g.42666164G>C" "minor allele frequency (1000 Genomes Project): 0.2434" "{PMID:Bardak 2016:27813578}" "" "PRPH2 c.910C>G, Q304E" "heterozygous" "Unknown" "?" "rs390659" "0" "" "" "g.42698426G>C" "" "likely benign" "" "0000880880" "0" "30" "6" "42666145" "42666145" "subst" "0.912259" "00000" "PRPH2_000006" "g.42666145C>T" "minor allele frequency (1000 Genomes Project): 0.0587" "{PMID:Bardak 2016:27813578}" "" "PRPH2 c.929G>A, R310K" "heterozygous and homozygous" "Unknown" "?" "rs425876" "0" "" "" "g.42698407C>T" "" "likely benign" "" "0000880881" "0" "30" "6" "42666061" "42666061" "subst" "0.776534" "00000" "PRPH2_000003" "g.42666061T>C" "minor allele frequency (1000 Genomes Project): 0.2426" "{PMID:Bardak 2016:27813578}" "" "PRPH2 c.1013A>G, D338G" "heterozygous and homozygous" "Unknown" "?" "rs434102" "0" "" "" "g.42698323T>C" "" "likely benign" "" "0000881439" "1" "70" "6" "42672326" "42672326" "subst" "0" "04405" "PRPH2_000323" "g.42672326C>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.42704588C>T" "" "likely pathogenic" "ACMG" "0000881440" "1" "70" "6" "42689604" "42689604" "subst" "0" "04405" "PRPH2_000338" "g.42689604C>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.42721866C>A" "" "likely pathogenic" "ACMG" "0000887250" "0" "50" "6" "42672173" "42672173" "subst" "0" "02327" "PRPH2_000188" "g.42672173G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887251" "0" "90" "6" "42672351" "42672351" "subst" "0" "02327" "PRPH2_000339" "g.42672351T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887252" "0" "90" "6" "42689491" "42689491" "subst" "0" "02327" "PRPH2_000239" "g.42689491C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887253" "0" "30" "6" "42689575" "42689575" "subst" "5.68509E-5" "02330" "PRPH2_000340" "g.42689575G>A" "" "" "" "PRPH2(NM_000322.5):c.498C>T (p.C166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887254" "0" "90" "6" "42689937" "42689937" "subst" "1.62499E-5" "02327" "PRPH2_000067" "g.42689937G>A" "" "" "" "PRPH2(NM_000322.5):c.136C>T (p.R46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896479" "1" "90" "6" "42689537" "42689537" "subst" "0" "00000" "PRPH2_000332" "g.42689537C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "PRPH2 c.[536G>A];[536=]; p.(Trp179Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.42721799C>T" "" "pathogenic" "" "0000896591" "1" "90" "6" "42689692" "42689701" "delins" "0" "00000" "PRPH2_000334" "g.42689692_42689701delinsTCAGCTT" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "PRPH2 c.[372_381del];[372_381=]; p.(Leu126Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.42721954_42721963delinsTCAGCTT" "" "pathogenic" "" "0000896641" "1" "90" "6" "42689636" "42689636" "del" "0" "00000" "PRPH2_000333" "g.42689636del" "Taiwan Biobank: 0; GnomAD_exome_East: 0.0000544; GnomAD_All: 0.00000398" "{PMID:Chen 2021:33608557}" "" "PRPH2 c.[440del];[440=]; p.(Pro147LeufsTer6)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.42721898del" "" "pathogenic" "" "0000905613" "0" "10" "6" "42689515" "42689515" "subst" "0" "00000" "PRPH2_000342" "g.42689515G>A" "" "{PMID:Lai 2005:16364203}" "" "558C>T (Val106Val)" "" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905614" "0" "10" "6" "42665924" "42665924" "subst" "0" "00000" "PRPH2_000341" "g.42665924C>G" "" "{PMID:Lai 2005:16364203}" "" "1150G>C (Glu304Gln)" "" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905615" "0" "10" "6" "42665924" "42665924" "subst" "0" "00000" "PRPH2_000341" "g.42665924C>G" "" "{PMID:Lai 2005:16364203}" "" "1150G>C (Glu304Gln)" "" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905616" "0" "10" "6" "42689515" "42689515" "subst" "0" "00000" "PRPH2_000342" "g.42689515G>A" "" "{PMID:Lai 2005:16364203}" "" "558C>T (Val106Val)" "" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905627" "3" "10" "6" "42666164" "42666164" "subst" "0.775274" "00000" "PRPH2_000007" "g.42666164G>C" "" "{PMID:Bardak 2016:27813578}" "" "c.910C>G" "18/30 STGD patients and 131/250 healthy controls" "Unknown" "" "rs390659" "0" "" "" "" "" "benign" "" "0000905628" "3" "10" "6" "42666145" "42666145" "subst" "0.912259" "00000" "PRPH2_000006" "g.42666145C>T" "" "{PMID:Bardak 2016:27813578}" "" "c.929G>A" "26/30 STGD patients and 167/250 healthy controls" "Unknown" "" "rs425876" "0" "" "" "" "" "benign" "" "0000905629" "3" "10" "6" "42666061" "42666061" "subst" "0.776534" "00000" "PRPH2_000003" "g.42666061T>C" "" "{PMID:Bardak 2016:27813578}" "" "c.1013A>G" "18/30 STGD patients and 120/250 healthy controls" "Unknown" "" "rs434102" "0" "" "" "" "" "benign" "" "0000905630" "0" "10" "6" "42666164" "42666164" "subst" "0.775274" "00000" "PRPH2_000007" "g.42666164G>C" "" "{PMID:Bardak 2016:27813578}" "" "c.910C>G" "12/30 STGD patients and 105/250 healthy controls" "Unknown" "" "rs390659" "0" "" "" "" "" "benign" "" "0000905631" "0" "10" "6" "42666145" "42666145" "subst" "0.912259" "00000" "PRPH2_000006" "g.42666145C>T" "" "{PMID:Bardak 2016:27813578}" "" "c.929G>A" "4/30 STGD patients and 75/250 healthy controls" "Unknown" "" "rs425876" "0" "" "" "" "" "benign" "" "0000905632" "0" "10" "6" "42666061" "42666061" "subst" "0.776534" "00000" "PRPH2_000003" "g.42666061T>C" "" "{PMID:Bardak 2016:27813578}" "" "c.1013A>G" "12/30 STGD patients and 99/250 healthy controls" "Unknown" "" "rs434102" "0" "" "" "" "" "benign" "" "0000905636" "3" "10" "6" "42690060" "42690060" "subst" "0" "00000" "PRPH2_000343" "g.42690060G>A" "" "{PMID:Bardak 2016:27813578}" "" "13C>T" "8/250 healthy controls" "Unknown" "" "rs361524" "0" "" "" "" "" "benign" "" "0000905637" "3" "10" "6" "42689755" "42689755" "subst" "0.577432" "00000" "PRPH2_000015" "g.42689755A>G" "" "{PMID:Bardak 2016:27813578}" "" "c.318T>C" "87/250 healthy controls" "Unknown" "" "rs7764439" "0" "" "" "" "" "benign" "" "0000905638" "0" "10" "6" "42690060" "42690060" "subst" "0" "00000" "PRPH2_000343" "g.42690060G>A" "" "{PMID:Bardak 2016:27813578}" "" "13C>T" "64/250 healthy controls" "Unknown" "" "rs361524" "0" "" "" "" "" "benign" "" "0000905639" "0" "10" "6" "42689755" "42689755" "subst" "0.577432" "00000" "PRPH2_000015" "g.42689755A>G" "" "{PMID:Bardak 2016:27813578}" "" "c.318T>C" "120/250 healthy controls" "Unknown" "" "rs7764439" "0" "" "" "" "" "benign" "" "0000905744" "0" "70" "6" "42689610" "42689612" "del" "0" "00000" "PRPH2_000084" "g.42689610_42689612del" "" "{PMID:Aleman 2009:18704120}" "" "Met152del3 atGAA" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905745" "0" "70" "6" "42689610" "42689612" "del" "0" "00000" "PRPH2_000084" "g.42689610_42689612del" "" "{PMID:Aleman 2009:18704120}" "" "Met152del3 atGAA" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908882" "0" "70" "6" "42689487" "42689487" "subst" "0" "00006" "PRPH2_000344" "g.42689487C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "RNA analysis indicates alternative transcription initiation" "Germline" "" "" "0" "" "" "g.42721749C>T" "" "likely pathogenic (dominant)" "" "0000908943" "2" "30" "6" "42666164" "42666164" "subst" "0.775274" "00006" "PRPH2_000007" "g.42666164G>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "variant used to proof alternative transcription initiation other (variant) allele" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000915835" "0" "90" "6" "42672298" "42672298" "subst" "0" "04436" "PRPH2_000058" "g.42672298G>C" "" "{PMID:Panneman 2023:36819107}" "" "c.633C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915861" "0" "90" "6" "42689559" "42689559" "subst" "0" "04436" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.514C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915893" "0" "90" "6" "42689559" "42689559" "subst" "0" "04436" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.514C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915929" "0" "70" "6" "42672183" "42672183" "subst" "0" "04436" "PRPH2_000053" "g.42672183A>C" "" "{PMID:Panneman 2023:36819107}" "" "c.748T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915944" "0" "90" "6" "42672350" "42672350" "subst" "0" "04436" "PRPH2_000031" "g.42672350C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.582-1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916017" "0" "90" "6" "42689538" "42689538" "subst" "0" "04436" "PRPH2_000144" "g.42689538A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.535T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916298" "0" "90" "6" "42672308" "42672308" "subst" "4.87424E-5" "04436" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.623G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916374" "0" "90" "6" "42672266" "42672266" "subst" "0" "04436" "PRPH2_000203" "g.42672266C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.665G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916427" "0" "90" "6" "42689792" "42689792" "subst" "0" "04436" "PRPH2_000126" "g.42689792C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.281G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916442" "0" "70" "6" "42689979" "42689979" "subst" "0.000893684" "04436" "PRPH2_000068" "g.42689979T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.94A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916532" "0" "90" "6" "42672348" "42672348" "subst" "4.06954E-6" "04436" "PRPH2_000235" "g.42672348G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.583C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916629" "0" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "04436" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.554T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916664" "0" "70" "6" "42689720" "42689721" "del" "0" "04436" "PRPH2_000345" "g.42689720_42689721del" "" "{PMID:Panneman 2023:36819107}" "" "c.[352_353del;356del]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916665" "0" "70" "6" "42689717" "42689717" "del" "0" "04436" "PRPH2_000345" "g.42689717del" "" "{PMID:Panneman 2023:36819107}" "" "c.[352_353del;356del]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916670" "3" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "04436" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.554T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916690" "0" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "04436" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.554T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916710" "0" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "04436" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.554T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916751" "0" "90" "6" "42672285" "42672285" "subst" "0" "04436" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.646C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000927638" "0" "50" "6" "42672344" "42672344" "subst" "0" "04473" "PRPH2_000232" "g.42672344A>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927639" "11" "50" "6" "42672344" "42672344" "subst" "0" "04473" "PRPH2_000232" "g.42672344A>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927640" "0" "50" "6" "42672225" "42672229" "dup" "0" "04473" "PRPH2_000348" "g.42672225_42672229dup" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927642" "0" "50" "6" "42672289" "42672289" "subst" "0" "04473" "PRPH2_000349" "g.42672289G>C" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927643" "0" "50" "6" "42672308" "42672308" "subst" "4.87424E-5" "04473" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927645" "3" "50" "6" "42672308" "42672308" "subst" "4.87424E-5" "04473" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927646" "0" "50" "6" "42672159" "42672160" "delins" "0" "04473" "PRPH2_000347" "g.42672159_42672160delinsTC" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000927647" "0" "50" "6" "42672350" "42672350" "subst" "0" "04473" "PRPH2_000031" "g.42672350C>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000927650" "0" "50" "6" "42672350" "42672350" "subst" "0" "04473" "PRPH2_000031" "g.42672350C>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000927652" "0" "50" "6" "42689660" "42689660" "subst" "0" "04473" "PRPH2_000350" "g.42689660A>C" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "VUS" "ACMG" "0000927654" "0" "50" "6" "42672303" "42672303" "subst" "0" "04473" "PRPH2_000120" "g.42672303G>A" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927655" "0" "50" "6" "42690005" "42690005" "del" "0" "04473" "PRPH2_000352" "g.42690005del" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927656" "0" "50" "6" "42690005" "42690005" "del" "0" "04473" "PRPH2_000352" "g.42690005del" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927657" "0" "50" "6" "42689937" "42689937" "subst" "1.62499E-5" "04473" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000927658" "0" "50" "6" "42689937" "42689937" "subst" "1.62499E-5" "04473" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000927659" "21" "50" "6" "42689937" "42689937" "subst" "1.62499E-5" "04473" "PRPH2_000067" "g.42689937G>A" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000927660" "0" "50" "6" "42689951" "42689951" "subst" "0" "04473" "PRPH2_000285" "g.42689951A>G" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "VUS" "ACMG" "0000927661" "0" "50" "6" "42666224" "42666224" "subst" "0" "04473" "PRPH2_000346" "g.42666224G>C" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000927662" "0" "50" "6" "42689783" "42689783" "subst" "0" "04473" "PRPH2_000351" "g.42689783C>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000929191" "0" "30" "6" "42672083" "42672083" "subst" "7.48984E-5" "02330" "PRPH2_000353" "g.42672083C>T" "" "" "" "PRPH2(NM_000322.5):c.828+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929192" "0" "70" "6" "42689580" "42689580" "subst" "0" "02327" "PRPH2_000254" "g.42689580A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000933406" "0" "90" "6" "42689559" "42689559" "subst" "0" "04552" "PRPH2_000035" "g.42689559G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61755792" "0" "" "" "" "{CV:1391732}" "pathogenic" "ACMG" "0000954066" "11" "90" "6" "42672223" "42672223" "subst" "0" "00006" "PRPH2_000055" "g.42672223G>C" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.42704485G>C" "" "pathogenic" "" "0000958003" "1" "90" "6" "42672297" "42672297" "subst" "0" "00006" "PRPH2_000057" "g.42672297T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1_STRONG, PP2, PP5, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.42704559T>C" "" "pathogenic (dominant)" "ACMG" "0000958016" "0" "90" "6" "42672285" "42672285" "subst" "0" "00006" "PRPH2_000025" "g.42672285G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1_STRONG, PP2, PP5" "Germline" "" "" "0" "" "" "g.42704547G>A" "" "pathogenic (dominant)" "ACMG" "0000958098" "1" "90" "6" "42666126" "42666126" "subst" "0" "00006" "PRPH2_000081" "g.42666126C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.42698388C>T" "" "pathogenic (dominant)" "ACMG" "0000958140" "1" "90" "6" "42672173" "42672173" "del" "0" "00006" "PRPH2_000047" "g.42672173del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.42704435del" "" "pathogenic" "ACMG" "0000958144" "0" "70" "6" "42672267" "42672267" "subst" "0" "00006" "PRPH2_000048" "g.42672267A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.42704529A>G" "" "likely pathogenic (dominant)" "ACMG" "0000958156" "1" "90" "6" "42672342" "42672342" "subst" "0" "00006" "PRPH2_000062" "g.42672342T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_STRONG, PP2, PP5_STRONG, BP4" "Germline" "" "" "0" "" "" "g.42704604T>C" "" "pathogenic (dominant)" "ACMG" "0000958158" "0" "90" "6" "42666154" "42666154" "del" "0" "00006" "PRPH2_000113" "g.42666154del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.42698416del" "98720" "pathogenic (dominant)" "ACMG" "0000958169" "0" "90" "6" "42689574" "42689574" "subst" "0" "00006" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.42721836C>T" "" "pathogenic (dominant)" "ACMG" "0000958221" "0" "70" "6" "42672203" "42672203" "subst" "0" "00006" "PRPH2_000356" "g.42672203A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2" "Germline/De novo (untested)" "" "" "0" "" "" "g.42704465A>G" "" "likely pathogenic (dominant)" "ACMG" "0000958222" "0" "90" "6" "42689559" "42689559" "subst" "0" "00006" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM5, PP2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "ACMG" "0000958224" "0" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "00006" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PM2, PM5, PP2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.42721820C>T" "13167" "pathogenic (dominant)" "ACMG" "0000958238" "0" "90" "6" "42689559" "42689559" "subst" "0" "00006" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM5, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic (dominant)" "ACMG" "0000958239" "0" "70" "6" "42689553" "42689553" "subst" "0" "00006" "PRPH2_000358" "g.42689553A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2" "Germline/De novo (untested)" "" "" "0" "" "" "g.42721815A>C" "" "likely pathogenic (dominant)" "ACMG" "0000958247" "1" "90" "6" "42666140" "42666140" "del" "0" "00006" "PRPH2_000096" "g.42666140del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.42698402del" "865787" "pathogenic (dominant)" "ACMG" "0000958261" "0" "90" "6" "42689558" "42689558" "subst" "0" "00006" "PRPH2_000082" "g.42689558C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PM2, PM5, PP2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.42721820C>G" "" "pathogenic (dominant)" "ACMG" "0000958387" "0" "90" "6" "42666162" "42666163" "dup" "0" "00006" "PRPH2_000302" "g.42666162_42666163dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.42698424_42698425dup" "1275765" "pathogenic (dominant)" "ACMG" "0000958739" "0" "90" "6" "42689756" "42689756" "del" "0" "00006" "PRPH2_000271" "g.42689756del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.42722018del" "" "pathogenic (dominant)" "ACMG" "0000958836" "1" "50" "6" "42672179" "42672180" "delins" "0" "00006" "PRPH2_000355" "g.42672179_42672180delinsGG" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1, PP2" "Germline" "" "" "0" "" "" "g.42704441_42704442delinsGG" "" "VUS" "ACMG" "0000958837" "1" "50" "6" "42672179" "42672180" "delins" "0" "00006" "PRPH2_000355" "g.42672179_42672180delinsGG" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1, PP2" "Germline" "" "" "0" "" "" "g.42704441_42704442delinsGG" "" "VUS" "ACMG" "0000958891" "1" "90" "6" "42672306" "42672306" "subst" "2.84336E-5" "00006" "PRPH2_000109" "g.42672306C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM5, PM1_STRONG, PP2, PP5" "Germline" "" "" "0" "" "" "g.42704568C>T" "" "pathogenic (dominant)" "ACMG" "0000958908" "0" "50" "6" "42672282" "42672282" "subst" "2.03047E-5" "00006" "PRPH2_000211" "g.42672282T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM1, PP2, PM2" "Germline" "" "" "0" "" "" "g.42704544T>C" "356777" "VUS" "ACMG" "0000958928" "0" "50" "6" "42689834" "42689834" "subst" "0" "00006" "PRPH2_000359" "g.42689834T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline/De novo (untested)" "" "" "0" "" "" "g.42722096T>C" "" "VUS" "ACMG" "0000958942" "0" "50" "6" "42689505" "42689505" "subst" "0" "00006" "PRPH2_000357" "g.42689505T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.42721767T>C" "" "VUS" "ACMG" "0000958959" "0" "50" "6" "42672122" "42672122" "subst" "0" "00006" "PRPH2_000354" "g.42672122A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2" "Germline/De novo (untested)" "" "" "0" "" "" "g.42704384A>G" "" "VUS" "ACMG" "0000959118" "0" "50" "6" "42690035" "42690035" "subst" "8.12856E-6" "00006" "PRPH2_000294" "g.42690035C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM5_SUPPORTING, PP2, PP5" "Germline" "" "" "0" "" "" "g.42722297C>T" "" "VUS" "ACMG" "0000959415" "0" "50" "6" "42689858" "42689858" "subst" "0" "00006" "PRPH2_000360" "g.42689858C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.42722120C>T" "" "VUS" "ACMG" "0000964148" "0" "50" "6" "42689551" "42689551" "subst" "0" "02327" "PRPH2_000247" "g.42689551C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977242" "0" "90" "6" "42689595" "42689595" "subst" "0" "02330" "PRPH2_000255" "g.42689595G>A" "" "" "" "PRPH2(NM_000322.5):c.478C>T (p.Q160*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977243" "0" "30" "6" "42689979" "42689979" "subst" "0.000893684" "02330" "PRPH2_000068" "g.42689979T>C" "" "" "" "PRPH2(NM_000322.4):c.94A>G (p.I32V), PRPH2(NM_000322.5):c.94A>G (p.I32V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986514" "1" "90" "6" "42672311" "42672324" "del" "0" "04405" "PRPH2_000227" "g.42672311_42672324del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704573_42704586del" "" "pathogenic" "ACMG" "0000986515" "1" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "04405" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721820C>T" "" "pathogenic" "ACMG" "0000986516" "1" "90" "6" "42690010" "42690010" "subst" "0" "04405" "PRPH2_000041" "g.42690010C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42722272C>T" "" "pathogenic" "ACMG" "0000986517" "1" "70" "6" "42689878" "42689878" "del" "0" "04405" "PRPH2_000368" "g.42689878del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42722140del" "" "likely pathogenic" "ACMG" "0000986518" "1" "90" "6" "42689604" "42689604" "subst" "0" "04405" "PRPH2_000256" "g.42689604C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721866C>T" "" "pathogenic" "ACMG" "0000986519" "1" "70" "6" "42672182" "42672182" "subst" "0" "04405" "PRPH2_000116" "g.42672182C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704444C>T" "" "likely pathogenic" "ACMG" "0000986520" "1" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "04405" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721820C>T" "" "pathogenic" "ACMG" "0000986521" "1" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "04405" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "pathogenic" "ACMG" "0000986522" "1" "70" "6" "42672338" "42672338" "subst" "0" "04405" "PRPH2_000362" "g.42672338C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704600C>G" "" "likely pathogenic" "ACMG" "0000986523" "1" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "04405" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "pathogenic" "ACMG" "0000986524" "1" "90" "6" "42672308" "42672308" "subst" "4.87424E-5" "04405" "PRPH2_000028" "g.42672308C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704570C>T" "" "pathogenic" "ACMG" "0000986525" "1" "90" "6" "42689529" "42689529" "dup" "0" "04405" "PRPH2_000363" "g.42689529dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721791dup" "" "pathogenic" "ACMG" "0000986526" "1" "90" "6" "42689559" "42689559" "subst" "0" "04405" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic" "ACMG" "0000986527" "1" "90" "6" "42672102" "42689491" "del" "0" "04405" "LAMA2_000000" "g.(42689491_42672350)_(42672102_42666246)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000986528" "1" "90" "6" "42672326" "42672326" "subst" "0" "04405" "PRPH2_000323" "g.42672326C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704588C>T" "" "pathogenic" "ACMG" "0000986529" "1" "90" "6" "42672293" "42672293" "subst" "0" "04405" "PRPH2_000136" "g.42672293C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704555C>T" "" "pathogenic" "ACMG" "0000986530" "1" "90" "6" "42672266" "42672266" "subst" "0" "04405" "PRPH2_000134" "g.42672266C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704528C>T" "" "pathogenic" "ACMG" "0000986531" "1" "70" "6" "42689574" "42689574" "subst" "0" "04405" "PRPH2_000366" "g.42689574C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721836C>A" "" "likely pathogenic" "ACMG" "0000986532" "1" "90" "6" "42689651" "42689651" "subst" "0" "04405" "PRPH2_000105" "g.42689651T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721913T>C" "" "pathogenic" "ACMG" "0000986533" "1" "90" "6" "42689559" "42689559" "subst" "0" "04405" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic" "ACMG" "0000986534" "1" "90" "6" "42689649" "42689649" "subst" "1.62463E-5" "04405" "PRPH2_000001" "g.42689649G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721911G>A" "" "pathogenic" "ACMG" "0000986535" "1" "70" "6" "42689550" "42689550" "del" "0" "04405" "PRPH2_000365" "g.42689550del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721812del" "" "likely pathogenic" "ACMG" "0000986536" "1" "70" "6" "42666137" "42666137" "del" "0" "04405" "PRPH2_000361" "g.42666137del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42698399del" "" "likely pathogenic" "ACMG" "0000986537" "1" "70" "6" "42689580" "42689580" "subst" "0" "04405" "PRPH2_000367" "g.42689580A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721842A>C" "" "likely pathogenic" "ACMG" "0000986538" "1" "90" "6" "42672310" "42672326" "del" "0" "04405" "PRPH2_000097" "g.42672310_42672326del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704572_42704588del" "" "pathogenic" "ACMG" "0000986539" "1" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "04405" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721820C>T" "" "pathogenic" "ACMG" "0000986540" "1" "90" "6" "42689558" "42689558" "subst" "4.06085E-6" "04405" "PRPH2_000034" "g.42689558C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721820C>T" "" "pathogenic" "ACMG" "0000986541" "1" "90" "6" "42689559" "42689559" "subst" "0" "04405" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic" "ACMG" "0000986542" "1" "90" "6" "42689559" "42689559" "subst" "0" "04405" "PRPH2_000035" "g.42689559G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721821G>A" "" "pathogenic" "ACMG" "0000986543" "1" "90" "6" "42689574" "42689574" "subst" "0" "04405" "PRPH2_000037" "g.42689574C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721836C>T" "" "pathogenic" "ACMG" "0000986544" "1" "90" "6" "42689519" "42689519" "subst" "8.12427E-6" "04405" "PRPH2_000004" "g.42689519A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721781A>G" "" "pathogenic" "ACMG" "0000986545" "1" "70" "6" "42689539" "42689539" "subst" "0" "04405" "PRPH2_000364" "g.42689539C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42721801C>G" "" "likely pathogenic" "ACMG" "0000986546" "1" "70" "6" "42672332" "42672332" "subst" "0" "04405" "PRPH2_000228" "g.42672332A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704594A>T" "" "likely pathogenic" "ACMG" "0000986547" "1" "90" "6" "42672319" "42672319" "subst" "0" "04405" "PRPH2_000091" "g.42672319G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.42704581G>C" "" "pathogenic" "ACMG" "0001022270" "1" "70" "6" "42689663" "42689663" "subst" "0" "00006" "PRPH2_000265" "g.42689663C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs527236097" "0" "" "" "g.42721925C>T" "" "likely pathogenic" "" "0001025228" "0" "10" "6" "42666061" "42666061" "subst" "0.776534" "02327" "PRPH2_000003" "g.42666061T>C" "" "" "" "PRPH2(NM_000322.4):c.1013A>G (p.D338G), PRPH2(NM_000322.5):c.1013A>G (p.D338G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025229" "0" "50" "6" "42689844" "42689844" "subst" "0" "02330" "PRPH2_000369" "g.42689844G>C" "" "" "" "PRPH2(NM_000322.5):c.229C>G (p.L77V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035767" "0" "50" "6" "42666208" "42666208" "subst" "0.000649741" "02327" "PRPH2_000009" "g.42666208G>A" "" "" "" "PRPH2(NM_000322.4):c.866C>T (p.S289L), PRPH2(NM_000322.5):c.866C>T (p.S289L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052345" "0" "50" "6" "42666060" "42666061" "ins" "1.22107E-5" "01804" "PRPH2_000370" "g.42666060_42666061insCC" "" "" "" "PRPH2(NM_000322.5):c.1013_1014insGG (p.(Asp338Glufs*24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052346" "0" "50" "6" "42666061" "42666062" "ins" "1.22128E-5" "01804" "PRPH2_000371" "g.42666061_42666062insGCGC" "" "" "" "PRPH2(NM_000322.5):c.1012_1013insGCGC (p.(Asp338Glyfs*55))" "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 PRPH2 ## Count = 2482 "{{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}}" "0000019480" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000060168" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000060169" "00016909" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "1" "0000060170" "00016909" "90" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "3" "0000060171" "00016909" "90" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "3" "0000247956" "00016909" "10" "318" "0" "318" "0" "c.318T>C" "r.(?)" "p.(Val106=)" "" "0000250489" "00016909" "70" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Phe211Leu)" "" "0000253217" "00016909" "10" "318" "0" "318" "0" "c.318T>C" "r.(?)" "p.(Val106=)" "" "0000255372" "00016909" "70" "599" "0" "599" "0" "c.599T>C" "r.(?)" "p.(Val200Ala)" "" "0000255450" "00016909" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148AlafsTer5)" "" "0000294508" "00016909" "10" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Asp84=)" "" "0000294509" "00016909" "10" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(Ile161=)" "" "0000294510" "00016909" "10" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Asn169=)" "" "0000294511" "00016909" "50" "634" "0" "634" "0" "c.634A>T" "r.(?)" "p.(Ser212Cys)" "" "0000294512" "00016909" "30" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000294513" "00016909" "10" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Pro296=)" "" "0000297385" "00016909" "10" "1054" "0" "1054" "0" "c.*13C>T" "r.(=)" "p.(=)" "" "0000297386" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0000297387" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000297388" "00016909" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000306486" "00016909" "10" "1054" "0" "1054" "0" "c.*13C>T" "r.(=)" "p.(=)" "" "0000306487" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0000306488" "00016909" "30" "1014" "0" "1014" "0" "c.1014C>A" "r.(?)" "p.(Asp338Glu)" "" "0000306489" "00016909" "30" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Tyr83=)" "" "0000306490" "00016909" "50" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Glu242Gly)" "" "0000306491" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000306492" "00016909" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000306493" "00016909" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "" "0000338067" "00016909" "10" "1153" "0" "1153" "0" "c.*112C>A" "r.(=)" "p.(=)" "" "0000338068" "00016909" "10" "1054" "0" "1054" "0" "c.*13C>T" "r.(=)" "p.(=)" "" "0000338069" "00016909" "90" "828" "1" "828" "1" "c.828+1G>A" "r.spl?" "p.?" "" "0000338070" "00016909" "90" "582" "-1" "582" "-1" "c.582-1G>A" "r.spl?" "p.?" "" "0000338071" "00016909" "90" "582" "-2" "582" "-2" "c.582-2A>T" "r.spl?" "p.?" "" "0000340065" "00016909" "10" "318" "0" "318" "0" "c.318T>C" "r.(?)" "p.(Val106=)" "" "0000341807" "00016909" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000342073" "00016909" "70" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000342074" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000342176" "00016909" "70" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195Gln)" "" "0000342291" "00016909" "90" "658" "0" "658" "0" "c.658del" "r.(?)" "p.(Arg220GlyfsTer36)" "" "0000342293" "00016909" "50" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000342295" "00016909" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000342605" "00016909" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000343619" "00016909" "70" "505" "0" "507" "0" "c.505_507del" "r.(?)" "p.(Asn169del)" "" "0000344751" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000345782" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000345855" "00016909" "90" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000346980" "00016909" "50" "614" "0" "614" "0" "c.614T>C" "r.(?)" "p.(Leu205Pro)" "" "0000347426" "00016909" "70" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "" "0000347983" "00016909" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Phe211Leu)" "" "0000348285" "00016909" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "" "0000349717" "00016909" "70" "520" "0" "520" "0" "c.520T>A" "r.(?)" "p.(Trp174Arg)" "" "0000349731" "00016909" "90" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21Ter)" "" "0000349771" "00016909" "50" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "" "0000351188" "00016909" "10" "-11" "0" "-11" "0" "c.-11A>C" "r.(?)" "p.(=)" "" "0000472270" "00016909" "50" "664" "0" "664" "0" "c.664T>C" "r.(?)" "p.(Cys222Arg)" "" "0000472271" "00016909" "90" "760" "0" "760" "0" "c.760del" "r.(?)" "p.(Leu254Cysfs*2)" "" "0000476495" "00016909" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" "0000476496" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0000476497" "00016909" "50" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Phe319Leu)" "" "0000476498" "00016909" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000476499" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000476500" "00016909" "90" "811" "0" "813" "0" "c.811_813del" "r.(?)" "p.(Leu271del)" "" "0000476501" "00016909" "50" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Thr269Arg)" "" "0000476502" "00016909" "50" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "" "0000476503" "00016909" "90" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "" "0000476504" "00016909" "90" "708" "0" "708" "0" "c.708C>G" "r.(?)" "p.(Tyr236*)" "" "0000476505" "00016909" "50" "690" "0" "690" "0" "c.690C>G" "r.(?)" "p.(Asn230Lys)" "" "0000476506" "00016909" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000476507" "00016909" "90" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "" "0000476508" "00016909" "50" "633" "0" "633" "0" "c.633C>G" "r.(?)" "p.(Phe211Leu)" "" "0000476509" "00016909" "90" "631" "0" "632" "0" "c.631_632insA" "r.(?)" "p.(Phe211Tyrfs*7)" "" "0000476510" "00016909" "90" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Pro210Leu)" "" "0000476511" "00016909" "50" "623" "0" "625" "0" "c.623_625dup" "r.(?)" "p.(Gly208dup)" "" "0000476512" "00016909" "90" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000476513" "00016909" "50" "557" "0" "557" "0" "c.557A>T" "r.(?)" "p.(Asp186Val)" "" "0000476514" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000476515" "00016909" "90" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Ser)" "" "0000476516" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000476517" "00016909" "50" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Met152Val)" "" "0000476518" "00016909" "50" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Ala116Ser)" "" "0000476519" "00016909" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000476520" "00016909" "50" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "" "0000476521" "00016909" "50" "44" "0" "44" "0" "c.44A>G" "r.(?)" "p.(Lys15Arg)" "" "0000476522" "00016909" "50" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Trp)" "" "0000477495" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0000477496" "00016909" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000477497" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000528858" "00016909" "90" "897" "0" "898" "0" "c.897_898del" "r.(?)" "p.(Ser301ArgfsTer90)" "" "0000528859" "00016909" "30" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000528860" "00016909" "30" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Leu261Phe)" "" "0000528861" "00016909" "30" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Tyr258=)" "" "0000528862" "00016909" "90" "746" "0" "746" "0" "c.746del" "r.(?)" "p.(Gly249AlafsTer7)" "" "0000528863" "00016909" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "" "0000528864" "00016909" "70" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Phe211Leu)" "" "0000528865" "00016909" "10" "483" "0" "483" "0" "c.483C>G" "r.(?)" "p.(Ile161Met)" "" "0000528866" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000528867" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000528868" "00016909" "10" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Tyr83=)" "" "0000528869" "00016909" "50" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "" "0000594735" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000610348" "00016909" "50" "519" "0" "519" "0" "c.519C>G" "r.(?)" "p.(Asp173Glu)" "" "0000610349" "00016909" "70" "377" "0" "377" "0" "c.377T>C" "r.(?)" "p.(Leu126Pro)" "" "0000610350" "00016909" "90" "303" "0" "303" "0" "c.303C>G" "r.(?)" "p.(Tyr101Ter)" "" "0000610351" "00016909" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Ter)" "" "0000610352" "00016909" "30" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "" "0000626338" "00016909" "70" "668" "0" "668" "0" "c.668T>A" "r.(?)" "p.(Ile223Asn)" "" "0000655590" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000655591" "00016909" "70" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "" "0000664775" "00016909" "90" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "" "0000666146" "00016909" "70" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(Trp316*)" "" "0000666147" "00016909" "70" "515" "0" "515" "0" "c.515G>C" "r.(?)" "p.(Arg172Pro)" "" "0000677779" "00016909" "90" "708" "0" "708" "0" "c.708C>A" "r.(?)" "p.(Tyr236Ter)" "" "0000683269" "00016909" "90" "461" "0" "463" "0" "c.461_463del" "r.(?)" "p.(Lys154del)" "" "0000684396" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000684397" "00016909" "70" "0" "0" "0" "0" "c.-286_(581+1_582-1){0}" "r.(?)" "p.?" "_1_1i" "0000684554" "00016909" "70" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "" "0000684555" "00016909" "70" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000684556" "00016909" "70" "1011" "0" "1014" "0" "c.1011_1014dup" "r.(?)" "p.(Ala339Argfs*54)" "" "0000684639" "00016909" "70" "40" "0" "41" "0" "c.40_41insGT" "r.(?)" "p.(Val14Glyfs*11)" "" "0000684690" "00016909" "70" "657" "0" "662" "0" "c.657_662del" "r.(?)" "p.(Arg220_Pro221del)" "" "0000685371" "00016909" "70" "927" "0" "927" "0" "c.927G>T" "r.(?)" "p.(Glu309Asp)" "" "0000685372" "00016909" "90" "811" "0" "813" "0" "c.811_813del" "r.(?)" "p.(Leu271del)" "" "0000685373" "00016909" "70" "794" "0" "794" "0" "c.794T>G" "r.(?)" "p.(Met265Arg)" "" "0000685374" "00016909" "70" "732" "0" "732" "0" "c.732C>G" "r.(?)" "p.(Asn244Lys)" "" "0000685375" "00016909" "70" "664" "0" "664" "0" "c.664T>C" "r.(?)" "p.(Cys222Arg)" "" "0000685376" "00016909" "70" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000685377" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000685378" "00016909" "70" "635" "0" "635" "0" "c.635G>C" "r.(?)" "p.(Ser212Thr)" "" "0000685379" "00016909" "90" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204*)" "" "0000685380" "00016909" "70" "594" "0" "594" "0" "c.594C>G" "r.(?)" "p.(Ser198Arg)" "" "0000685381" "00016909" "70" "518" "0" "518" "0" "c.518A>C" "r.(?)" "p.(Asp173Ala)" "" "0000685382" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000685383" "00016909" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "" "0000685384" "00016909" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "" "0000685385" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000708290" "00016909" "70" "934" "0" "934" "0" "c.934del" "r.(?)" "p.(Val312Cysfs*12)" "3" "0000708431" "00016909" "70" "609" "0" "625" "0" "c.609_625del" "r.(?)" "p.(Tyr204Profs*8)" "2" "0000711766" "00016909" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000711767" "00016909" "90" "377" "0" "377" "0" "c.377T>G" "r.(?)" "p.(Leu126Arg)" "1" "0000711768" "00016909" "90" "516" "0" "516" "0" "c.516G>T" "r.(=)" "p.(=)" "1" "0000711769" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000711770" "00016909" "90" "616" "0" "627" "0" "c.616_627del" "r.(?)" "p.(*206Hisext*?)" "2" "0000711771" "00016909" "90" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "2" "0000711772" "00016909" "90" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "2" "0000711773" "00016909" "90" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "2" "0000711774" "00016909" "90" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "2" "0000711775" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000711776" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000711777" "00016909" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000711778" "00016909" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000711779" "00016909" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000711780" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2" "0000711781" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2i" "0000711782" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2i" "0000711783" "00016909" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000711784" "00016909" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Gln178Arg)" "1" "0000711785" "00016909" "90" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "2" "0000711786" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000711787" "00016909" "90" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Trp)" "1" "0000711788" "00016909" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "1" "0000711789" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2i" "0000711790" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2i" "0000711791" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2i" "0000711792" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2i" "0000711793" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2i" "0000711809" "00016909" "30" "318" "0" "318" "0" "c.318T>C" "r.(=)" "p.(Val106=)" "" "0000711810" "00016909" "30" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000711811" "00016909" "30" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000711812" "00016909" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(=)" "2" "0000711813" "00016909" "30" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0000713297" "00016909" "90" "625" "0" "625" "0" "c.625G>T" "r.(?)" "p.(Val209Phe)" "" "0000713483" "00016909" "90" "860" "0" "867" "0" "c.860_867del" "r.(?)" "p.(Gln287Profs*11)" "" "0000713500" "00016909" "90" "664" "0" "664" "0" "c.664T>C" "r.(?)" "p.(Cys222Arg)" "" "0000713516" "00016909" "90" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "" "0000713547" "00016909" "90" "259" "0" "266" "0" "c.259_266del" "r.(?)" "p.(Asp87Glnfs*87)" "" "0000713658" "00016909" "90" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000713946" "00016909" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000713947" "00016909" "90" "599" "0" "599" "0" "c.599T>G" "r.(?)" "p.(Val200Gly)" "" "0000713948" "00016909" "90" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Asp50His)" "" "0000713995" "00016909" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Val209Ile)" "" "0000720936" "00016909" "70" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Pro210Ser)" "" "0000720937" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000729790" "00016909" "90" "592" "0" "592" "0" "c.592A>C" "r.(?)" "p.(Ser198Arg)" "" "0000730628" "00016909" "90" "920" "0" "920" "0" "c.920del" "r.(?)" "p.(Leu307Argfs*17)" "3" "0000730629" "00016909" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000730630" "00016909" "90" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "2" "0000730631" "00016909" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000730632" "00016909" "90" "571" "0" "571" "0" "c.571G>T" "r.(?)" "p.(Glu191*)" "1" "0000730633" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "1" "0000730634" "00016909" "90" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204*)" "2" "0000730635" "00016909" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000730636" "00016909" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Trp94*)" "1" "0000730637" "00016909" "90" "626" "0" "626" "0" "c.626T>A" "r.(?)" "p.(Val209Asp)" "2" "0000730638" "00016909" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "1" "0000730639" "00016909" "90" "771" "0" "771" "0" "c.771C>G" "r.(?)" "p.(Tyr257*)" "2" "0000730640" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000730641" "00016909" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000730642" "00016909" "90" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Ser231*)" "2" "0000730643" "00016909" "90" "310" "0" "313" "0" "c.310_313del" "r.(?)" "p.(Ile104Valfs*34)" "1" "0000730644" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000730645" "00016909" "90" "626" "0" "626" "0" "c.626T>A" "r.(?)" "p.(Val209Asp)" "2" "0000730646" "00016909" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "1" "0000730647" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000730648" "00016909" "90" "513" "0" "513" "0" "c.513dup" "r.(?)" "p.(Arg172Serfs*5)" "1" "0000730649" "00016909" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000730650" "00016909" "90" "664" "0" "664" "0" "c.664T>C" "r.(?)" "p.(Cys222Arg)" "2" "0000730651" "00016909" "90" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Cys250Tyr)" "2" "0000730652" "00016909" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "1" "0000730653" "00016909" "90" "654" "0" "655" "0" "c.654_655del" "r.(?)" "p.(Pro219Thrfs*81)" "1" "0000730654" "00016909" "90" "178" "0" "178" "0" "c.178del" "r.(?)" "p.(Val60Cysfs*5)" "1" "0000730655" "00016909" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000730656" "00016909" "90" "774" "0" "774" "0" "c.774C>G" "r.(?)" "p.(Tyr258*)" "2" "0000731002" "00016909" "70" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Trp174*)" "" "0000731003" "00016909" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000731004" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000731143" "00016909" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000731302" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000731485" "00016909" "90" "603" "0" "620" "0" "c.603_620del" "r.(?)" "p.(Arg203_Gly208del)" "" "0000732540" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000732541" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000732567" "00016909" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000732612" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000732635" "00016909" "90" "610" "0" "610" "0" "c.610T>C" "r.(?)" "p.(Tyr204His)" "" "0000732638" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732639" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732641" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732643" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732644" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732645" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732646" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732647" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732762" "00016909" "70" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000732826" "00016909" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "" "0000732827" "00016909" "70" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Leu130Pro)" "" "0000732851" "00016909" "70" "271" "0" "271" "0" "c.271T>C" "r.(?)" "p.(Tyr91His)" "" "0000732910" "00016909" "70" "828" "3" "828" "3" "c.828+3A>T" "r.spl" "p.?" "" "0000732911" "00016909" "70" "828" "3" "828" "3" "c.828+3A>T" "r.spl" "p.?" "" "0000732912" "00016909" "70" "828" "3" "828" "3" "c.828+3A>T" "r.spl" "p.?" "" "0000732913" "00016909" "70" "828" "3" "828" "3" "c.828+3A>T" "r.spl" "p.?" "" "0000732914" "00016909" "70" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000732939" "00016909" "70" "828" "3" "828" "3" "c.828+3A>T" "r.spl" "p.?" "" "0000732940" "00016909" "70" "828" "3" "828" "3" "c.828+3A>T" "r.spl" "p.?" "" "0000732941" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000732942" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000732943" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000732944" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000732945" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000732946" "00016909" "70" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Gly167Asp)" "" "0000732947" "00016909" "70" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Gly167Asp)" "" "0000732948" "00016909" "70" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000732949" "00016909" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000732950" "00016909" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000732951" "00016909" "70" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "" "0000732952" "00016909" "70" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "" "0000732953" "00016909" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "" "0000732954" "00016909" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "" "0000732955" "00016909" "70" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000732956" "00016909" "70" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000732957" "00016909" "70" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Cys222Tyr)" "" "0000732958" "00016909" "70" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Cys250Arg)" "" "0000732959" "00016909" "70" "0" "0" "0" "0" "c.828+1797_*1700{0}ins(?)" "r.?" "p.?" "2i_3_" "0000732960" "00016909" "70" "582" "-14" "582" "-14" "c.582-14T>A" "r.spl" "p.?" "" "0000732961" "00016909" "70" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Pro221Leu)" "" "0000735651" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000736058" "00016909" "90" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "" "0000736345" "00016909" "90" "382" "0" "385" "0" "c.382_385dup" "r.(?)" "p.(Thr129Lysfs*49)" "1" "0000736346" "00016909" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000736347" "00016909" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "1" "0000736348" "00016909" "70" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000736430" "00016909" "90" "616" "0" "627" "0" "c.616_627del" "r.(?)" "p.(Val206_Val209del)" "2" "0000736431" "00016909" "90" "828" "3" "828" "3" "c.828+3A>T" "r.(?)" "p.?" "2" "0000736432" "00016909" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000736433" "00016909" "90" "377" "0" "377" "0" "c.377T>G" "r.(?)" "p.(Leu126Arg)" "1" "0000736434" "00016909" "90" "516" "0" "516" "0" "c.516G>T" "r.(=)" "p.(=)" "1" "0000736435" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000736436" "00016909" "90" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "2" "0000736437" "00016909" "90" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Pro210Leu)" "2" "0000736438" "00016909" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000736439" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000736440" "00016909" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000736441" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000736442" "00016909" "70" "594" "0" "594" "0" "c.594C>G" "r.(?)" "p.(Ser198Arg)" "2" "0000736443" "00016909" "70" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "2" "0000736444" "00016909" "10" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Gly137Ser)" "1" "0000736445" "00016909" "10" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "1" "0000736499" "00016909" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "" "0000736633" "00016909" "70" "4" "0" "4" "0" "c.4G>T" "r.(?)" "p.(Ala2Ser)" "1" "0000736848" "00016909" "70" "603" "0" "620" "0" "c.603_620del" "r.(?)" "p.(Arg203_Gly208del)" "" "0000760364" "00016909" "70" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000760719" "00016909" "30" "582" "-85" "582" "-85" "c.582-85G>A" "r.spl?" "p.?" "1i" "0000760720" "00016909" "30" "582" "-67" "582" "-67" "c.582-67T>A" "r.spl?" "p.?" "1i" "0000760721" "00016909" "30" "582" "-58" "582" "-58" "c.582-58A>C" "r.spl?" "p.?" "1i" "0000760722" "00016909" "90" "629" "0" "629" "0" "c.629C>G" "r.(=)" "p.(=)" "2" "0000760723" "00016909" "30" "829" "-48" "829" "-48" "c.829-48C>T" "r.spl?" "p.(=)" "1i" "0000760724" "00016909" "30" "910" "0" "910" "0" "c.910C>G" "r.(=)" "p.(=)" "2" "0000760725" "00016909" "30" "929" "0" "929" "0" "c.929G>A" "r.(=)" "p.(=)" "2" "0000760726" "00016909" "30" "1013" "0" "1013" "0" "c.1013A>G" "r.(=)" "p.(=)" "2" "0000760739" "00016909" "30" "318" "0" "318" "0" "c.318T>C" "r.(=)" "p.(=)" "1" "0000761308" "00016909" "90" "0" "0" "0" "0" "c.-286_(581+1_582-1){0}" "r.0?" "p.0?" "_1_1i" "0000761309" "00016909" "90" "582" "-1" "828" "1" "c.(581+1_582-1)_(828+1_829-1)del" "r.(?)" "p.(Asp194Glufs*2)" "1i_2i" "0000761310" "00016909" "50" "1888" "0" "1891" "0" "c.*847_*850del" "r.(?)" "p.(=)" "3" "0000761311" "00016909" "50" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Ala337Thr)" "3" "0000761312" "00016909" "50" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Glu335=)" "3" "0000761313" "00016909" "50" "995" "0" "995" "0" "c.995T>A" "r.(?)" "p.(Val332Glu)" "3" "0000761314" "00016909" "90" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Gln331*)" "3" "0000761315" "00016909" "90" "974" "0" "977" "0" "c.974_977del" "r.(?)" "p.(Lys325Argfs*35)" "3" "0000761316" "00016909" "90" "961" "0" "961" "0" "c.961G>T" "r.(?)" "p.(Glu321*)" "3" "0000761317" "00016909" "90" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316*)" "3" "0000761318" "00016909" "70" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "3" "0000761319" "00016909" "90" "945" "0" "945" "0" "c.945del" "r.(?)" "p.(Trp316Glyfs*8)" "3" "0000761320" "00016909" "90" "937" "0" "938" "0" "c.937_938del" "r.(?)" "p.(Pro313Glyfs*78)" "3" "0000761321" "00016909" "50" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "3" "0000761322" "00016909" "50" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Pro313Ser)" "3" "0000761323" "00016909" "70" "923" "0" "923" "0" "c.923T>A" "r.(?)" "p.(Leu308Gln)" "3" "0000761324" "00016909" "90" "914" "0" "922" "0" "c.914_922del" "r.(?)" "p.(Gly305_Leu308delinsVal)" "3" "0000761325" "00016909" "90" "920" "0" "920" "0" "c.920del" "r.(?)" "p.(Leu307Argfs*17)" "3" "0000761326" "00016909" "50" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Gly305Asp)" "3" "0000761327" "00016909" "90" "914" "0" "914" "0" "c.914del" "r.(?)" "p.(Gly305Alafs*19)" "3" "0000761328" "00016909" "90" "903" "0" "906" "0" "c.903_906del" "r.(?)" "p.(Ser301Argfs*22)" "3" "0000761329" "00016909" "90" "897" "0" "898" "0" "c.897_898del" "r.(?)" "p.(Ser301Argfs*90)" "3" "0000761330" "00016909" "90" "871" "0" "872" "0" "c.871_872del" "r.(?)" "p.(Asp291Trpfs*9)" "3" "0000761331" "00016909" "90" "868" "0" "869" "0" "c.868_869del" "r.(?)" "p.(Leu290Glyfs*10)" "3" "0000761332" "00016909" "90" "860" "0" "867" "0" "c.860_867del" "r.(?)" "p.(Gln287Profs*11)" "3" "0000761333" "00016909" "50" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "3" "0000761334" "00016909" "50" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Thr288Lys)" "3" "0000761335" "00016909" "50" "857" "0" "857" "0" "c.857T>C" "r.(?)" "p.(Leu286Pro)" "3" "0000761336" "00016909" "70" "855" "0" "855" "0" "c.855C>A" "r.(?)" "p.(Tyr285*)" "3" "0000761337" "00016909" "70" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(Arg284Cys)" "3" "0000761338" "00016909" "90" "829" "-3" "829" "-1" "c.829-3_829-1del" "r.spl" "p.?" "2i" "0000761339" "00016909" "50" "829" "-4" "829" "-4" "c.829-4C>G" "r.spl?" "p.?" "2i" "0000761340" "00016909" "70" "824" "0" "828" "3" "c.824_828+3delinsCATTTGGGCTCCTCATTTGG" "r.spl" "p.?" "2_2i" "0000761341" "00016909" "70" "828" "3" "828" "3" "c.828+3A>T" "r.spl" "p.?" "2i" "0000761342" "00016909" "70" "828" "2" "828" "2" "c.828+2T>C" "r.spl" "p.?" "2i" "0000761343" "00016909" "90" "828" "1" "828" "1" "c.828+1G>A" "r.spl" "p.?" "2i" "0000761344" "00016909" "70" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Glu276*)" "2" "0000761345" "00016909" "90" "824" "0" "825" "0" "c.824_825del" "r.(?)" "p.(Phe275*)" "2" "0000761346" "00016909" "90" "808" "0" "818" "0" "c.808_818del" "r.(?)" "p.(Leu270Alafs*27)" "2" "0000761347" "00016909" "70" "811" "0" "813" "0" "c.811_813del" "r.(?)" "p.(Leu271del)" "2" "0000761348" "00016909" "90" "811" "0" "811" "0" "c.811del" "r.(?)" "p.(Leu271Serfs*7)" "2" "0000761349" "00016909" "90" "809" "0" "810" "0" "c.809_810del" "r.(?)" "p.(Leu270Profs*30)" "2" "0000761350" "00016909" "90" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Val268Ile)" "2" "0000761351" "00016909" "70" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000761352" "00016909" "50" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Leu261Phe)" "2" "0000761353" "00016909" "90" "774" "0" "774" "0" "c.774C>G" "r.(?)" "p.(Tyr258*)" "2" "0000761354" "00016909" "90" "774" "0" "774" "0" "c.774C>A" "r.(?)" "p.(Tyr258*)" "2" "0000761355" "00016909" "90" "771" "0" "771" "0" "c.771C>G" "r.(?)" "p.(Tyr257*)" "2" "0000761356" "00016909" "90" "749" "0" "769" "0" "c.749_769delinsCATGA" "r.(?)" "p.(Cys250Serfs*2)" "2" "0000761357" "00016909" "90" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000761358" "00016909" "70" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Ala253Asp)" "2" "0000761359" "00016909" "50" "754" "0" "754" "0" "c.754G>C" "r.(?)" "p.(Ala252Pro)" "2" "0000761360" "00016909" "90" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000761361" "00016909" "70" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Cys250Tyr)" "2" "0000761362" "00016909" "70" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000761363" "00016909" "70" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Cys250Arg)" "2" "0000761364" "00016909" "70" "748" "0" "748" "0" "c.748T>A" "r.(?)" "p.(Cys250Ser)" "2" "0000761365" "00016909" "70" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Gly249Ser)" "2" "0000761366" "00016909" "90" "746" "0" "746" "0" "c.746del" "r.(?)" "p.(Gly249Alafs*7)" "2" "0000761367" "00016909" "90" "738" "0" "741" "0" "c.738_741dup" "r.(?)" "p.(Arg248Glyfs*54)" "2" "0000761368" "00016909" "70" "738" "0" "738" "0" "c.738G>C" "r.(?)" "p.(Trp246Cys)" "2" "0000761369" "00016909" "70" "730" "0" "736" "0" "c.730_736delinsCAGCTCCTCCAGACGGGTGCACCAGAC" "r.(?)" "p.(Asn244Glnfs*19)" "2" "0000761370" "00016909" "70" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Trp246Arg)" "2" "0000761371" "00016909" "90" "732" "0" "732" "0" "c.732C>G" "r.(?)" "p.(Asn244Lys)" "2" "0000761372" "00016909" "90" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000761373" "00016909" "90" "730" "0" "730" "0" "c.730A>C" "r.(?)" "p.(Asn244His)" "2" "0000761374" "00016909" "50" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Glu242Gly)" "2" "0000761375" "00016909" "70" "711" "0" "722" "0" "c.711_722del" "r.(?)" "p.(Asp237_Thr240del)" "2" "0000761376" "00016909" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "2" "0000761377" "00016909" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Tyr236=)" "2" "0000761378" "00016909" "90" "708" "0" "708" "0" "c.708C>G" "r.(?)" "p.(Tyr236*)" "2" "0000761379" "00016909" "90" "700" "0" "700" "0" "c.700dup" "r.(?)" "p.(Tyr234Leufs*67)" "2" "0000761380" "00016909" "90" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Ser231*)" "2" "0000761381" "00016909" "70" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Thr228Ile)" "2" "0000761382" "00016909" "90" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Gln226*)" "2" "0000761383" "00016909" "70" "668" "0" "668" "0" "c.668T>A" "r.(?)" "p.(Ile223Asn)" "2" "0000761384" "00016909" "90" "665" "0" "665" "0" "c.665G>C" "r.(?)" "p.(Cys222Ser)" "2" "0000761385" "00016909" "90" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Cys222Tyr)" "2" "0000761386" "00016909" "70" "660" "0" "665" "0" "c.660_665del" "r.(?)" "p.(Pro221_Cys222del)" "2" "0000761387" "00016909" "70" "664" "0" "664" "0" "c.664T>C" "r.(?)" "p.(Cys222Arg)" "2" "0000761388" "00016909" "50" "664" "0" "664" "0" "c.664T>A" "r.(?)" "p.(Cys222Ser)" "2" "0000761389" "00016909" "50" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Pro221Leu)" "2" "0000761390" "00016909" "70" "657" "0" "662" "0" "c.657_662del" "r.(?)" "p.(Arg220_Pro221del)" "2" "0000761391" "00016909" "70" "659" "0" "659" "0" "c.659G>C" "r.(?)" "p.(Arg220Pro)" "2" "0000761392" "00016909" "90" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "2" "0000761393" "00016909" "90" "658" "0" "658" "0" "c.658del" "r.(?)" "p.(Arg220Glyfs*36)" "2" "0000761394" "00016909" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000761395" "00016909" "70" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000761396" "00016909" "70" "656" "0" "656" "0" "c.656C>G" "r.(?)" "p.(Pro219Arg)" "2" "0000761397" "00016909" "90" "653" "0" "653" "0" "c.653C>A" "r.(?)" "p.(Ser218*)" "2" "0000761398" "00016909" "50" "652" "0" "652" "0" "c.652T>C" "r.(?)" "p.(Ser218Pro)" "2" "0000761399" "00016909" "90" "646" "0" "649" "0" "c.646_649delinsGG" "r.(?)" "p.(Pro216Glyfs*84)" "2" "0000761400" "00016909" "50" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Ser217Gly)" "2" "0000761401" "00016909" "50" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000761402" "00016909" "70" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "2" "0000761403" "00016909" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000761404" "00016909" "70" "646" "0" "646" "0" "c.646C>G" "r.(?)" "p.(Pro216Ala)" "2" "0000761405" "00016909" "70" "643" "0" "643" "0" "c.643A>T" "r.(?)" "p.(Asn215Tyr)" "2" "0000761406" "00016909" "90" "642" "0" "642" "0" "c.642C>A" "r.(?)" "p.(Cys214*)" "2" "0000761407" "00016909" "90" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.(Cys214Ser)" "2" "0000761408" "00016909" "70" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Cys214Tyr)" "2" "0000761409" "00016909" "70" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Cys213Trp)" "2" "0000761410" "00016909" "70" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Cys213Phe)" "2" "0000761411" "00016909" "70" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Cys213Ser)" "2" "0000761412" "00016909" "90" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000761413" "00016909" "70" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Cys213Arg)" "2" "0000761414" "00016909" "70" "635" "0" "635" "0" "c.635G>C" "r.(?)" "p.(Ser212Thr)" "2" "0000761416" "00016909" "70" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000761417" "00016909" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Phe211Leu)" "2" "0000761418" "00016909" "90" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Phe211Leu)" "2" "0000761419" "00016909" "70" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Pro210Leu)" "2" "0000761420" "00016909" "70" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "2" "0000761421" "00016909" "70" "628" "0" "628" "0" "c.628C>T" "r.(?)" 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"p.(Tyr204Argfs*9)" "2" "0000761432" "00016909" "50" "620" "0" "620" "0" "c.620A>G" "r.(?)" "p.(Asp207Gly)" "2" "0000761433" "00016909" "70" "603" "0" "620" "0" "c.603_620del" "r.(?)" "p.(Arg203_Gly208del)" "2" "0000761434" "00016909" "50" "614" "0" "614" "0" "c.614T>C" "r.(?)" "p.(Leu205Pro)" "2" "0000761435" "00016909" "90" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204*)" "2" "0000761436" "00016909" "50" "610" "0" "610" "0" "c.610T>C" "r.(?)" "p.(Tyr204His)" "2" "0000761437" "00016909" "70" "599" "0" "599" "0" "c.599T>G" "r.(?)" "p.(Val200Gly)" "2" "0000761438" "00016909" "70" "599" "0" "599" "0" "c.599T>A" "r.(?)" "p.(Val200Glu)" "2" "0000761439" "00016909" "90" "597" "0" "597" "0" "c.597del" "r.(?)" "p.(Asn199Lysfs*57)" "2" "0000761440" "00016909" "50" "595" "0" "595" "0" "c.595A>G" "r.(?)" "p.(Asn199Asp)" "2" "0000761441" "00016909" "90" "594" "0" "594" "0" "c.594C>G" "r.(?)" "p.(Ser198Arg)" "2" "0000761442" "00016909" "90" "592" "0" "592" "0" "c.592A>C" "r.(?)" "p.(Ser198Arg)" "2" "0000761443" "00016909" "90" "588" "0" "589" "0" "c.588_589dup" "r.(?)" "p.(Lys197Thrfs*60)" "2" "0000761444" "00016909" "70" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "2" "0000761445" "00016909" "70" "587" "0" "587" "0" "c.587T>A" "r.(?)" "p.(Ile196Asn)" "2" "0000761446" "00016909" "50" "586" "0" "586" "0" "c.586A>T" "r.(?)" "p.(Ile196Phe)" "2" "0000761447" "00016909" "70" "584" "0" "584" "0" "c.584G>T" "r.(?)" "p.(Arg195Leu)" "2" "0000761448" "00016909" "70" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195Gln)" "2" "0000761449" "00016909" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195*)" "2" "0000761450" "00016909" "70" "583" "0" "583" "0" "c.583C>G" "r.(?)" "p.(Arg195Gly)" "2" "0000761451" "00016909" "70" "582" "0" "582" "0" "c.582T>A" "r.spl?" "p.(Asp194Glu)" "2" "0000761452" "00016909" "90" "582" "-1" "582" "-1" "c.582-1G>A" "r.spl" "p.?" "1i" "0000761453" "00016909" "90" "582" "-2" "582" "-2" "c.582-2A>T" "r.spl" "p.?" "2i" "0000761454" "00016909" "50" "581" "4" "581" "4" "c.581+4dup" "r.spl" "p.?" "1i" "0000761455" "00016909" "90" "581" "1" "581" "1" "c.581+1G>C" "r.spl" "p.?" "1i" "0000761456" "00016909" "90" "581" "1" "581" "1" "c.581+1G>A" "r.spl" "p.?" "1i" "0000761457" "00016909" "90" "578" "0" "579" "0" "c.578_579del" "r.(?)" "p.(Lys193Argfs*24)" "1" "0000761458" "00016909" "90" "571" "0" "571" "0" "c.571G>T" "r.(?)" "p.(Glu191*)" "1" "0000761459" "00016909" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Asp186Asn)" "1" "0000761460" "00016909" "70" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000761461" "00016909" "70" "551" "0" "551" "0" "c.551A>C" "r.(?)" "p.(Tyr184Ser)" "1" "0000761462" "00016909" "50" "540" "0" "540" "0" "c.540C>G" "r.(?)" "p.(Ile180Met)" "1" "0000761463" "00016909" "70" "537" "0" "537" "0" "c.537G>T" "r.(?)" "p.(Trp179Cys)" "1" "0000761464" "00016909" "70" "536" "0" "536" "0" "c.536G>T" "r.(?)" "p.(Trp179Leu)" "1" "0000761465" "00016909" "70" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "1" "0000761466" "00016909" "70" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Gln178Arg)" "1" "0000761467" "00016909" "50" "522" "0" "522" "0" "c.522G>C" "r.(?)" "p.(Trp174Cys)" "1" "0000761468" "00016909" "90" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Trp174*)" "1" "0000761469" "00016909" "50" "521" "0" "521" "0" "c.521G>C" "r.(?)" "p.(Trp174Ser)" "1" "0000761470" "00016909" "70" "520" "0" "520" "0" "c.520T>A" "r.(?)" "p.(Trp174Arg)" "1" "0000761471" "00016909" "70" "518" "0" "518" "0" "c.518A>T" "r.(?)" "p.(Asp173Val)" "1" "0000761472" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "1" "0000761473" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000761474" "00016909" "70" "514" "0" "514" "0" "c.514C>G" "r.(?)" "p.(Arg172Gly)" "1" "0000761475" "00016909" "90" "513" "0" "513" "0" "c.513dup" "r.(?)" "p.(Arg172Serfs*5)" "1" "0000761476" "00016909" "70" "505" "0" "507" "0" "c.505_507del" "r.(?)" "p.(Asn169del)" "1" "0000761477" "00016909" "90" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Gly167Asp)" "1" "0000761478" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "1" "0000761479" "00016909" "50" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Cys166Tyr)" "1" "0000761480" "00016909" "70" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Cys165Phe)" "1" "0000761481" "00016909" "70" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Cys165Tyr)" "1" "0000761482" "00016909" "70" "493" "0" "493" "0" "c.493T>C" "r.(?)" "p.(Cys165Arg)" "1" "0000761483" "00016909" "50" "483" "0" "483" "0" "c.483C>G" "r.(?)" "p.(Ile161Met)" "1" "0000761484" "00016909" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Gln160*)" "1" "0000761485" "00016909" "70" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Asp157Asn)" "1" "0000761486" "00016909" "70" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Thr155Ile)" "1" "0000761487" "00016909" "50" "460" "0" "460" "0" "c.460A>C" "r.(?)" "p.(Lys154Gln)" "1" "0000761488" "00016909" "70" "461" "0" "463" "0" "c.461_463del" "r.(?)" "p.(Lys154del)" "1" "0000761489" "00016909" "70" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "1" "0000761490" "00016909" "50" "458" "0" "458" "0" "c.458A>C" "r.(?)" "p.(Lys153Thr)" "1" "0000761491" "00016909" "70" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Lys153Glu)" "1" "0000761492" "00016909" "50" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Met152Val)" "1" "0000761493" "00016909" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "1" "0000761494" "00016909" "90" "433" "0" "434" "0" "c.433_434del" "r.(?)" "p.(Asp145Hisfs*31)" "1" "0000761495" "00016909" "70" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "1" "0000761496" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000761497" "00016909" "90" "423" "0" "423" "0" "c.423C>A" "r.(?)" "p.(Tyr141*)" "1" "0000761498" "00016909" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000761499" "00016909" "90" "418" "0" "421" "0" "c.418_421dup" "r.(?)" "p.(Tyr141Leufs*37)" "1" "0000761500" "00016909" "90" "421" "0" "421" "0" "c.421T>C" "r.(?)" "p.(Tyr141His)" "1" "0000761501" "00016909" "70" "415" "0" "417" "0" "c.415_417del" "r.(?)" "p.(Lys139del)" "1" "0000761502" "00016909" "50" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Gly137Asp)" "1" "0000761503" "00016909" "50" "403" "0" "403" "0" "c.403A>G" "r.(?)" "p.(Lys135Glu)" "1" "0000761504" "00016909" "90" "394" "0" "394" "0" "c.394del" "r.(?)" "p.(Gln132Lysfs*7)" "1" "0000761505" "00016909" "70" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Leu130Pro)" "1" "0000761506" "00016909" "90" "382" "0" "385" "0" "c.382_385dup" "r.(?)" "p.(Thr129Lysfs*49)" "1" "0000761507" "00016909" "70" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(Glu127Gly)" "1" "0000761508" "00016909" "70" "377" "0" "377" "0" "c.377T>G" "r.(?)" "p.(Leu126Arg)" "1" "0000761509" "00016909" "70" "377" "0" "377" "0" "c.377T>C" "r.(?)" "p.(Leu126Pro)" "1" "0000761510" "00016909" "70" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "1" "0000761511" "00016909" "90" "371" "0" "371" "0" "c.371del" "r.(?)" "p.(Gly124Alafs*15)" "1" "0000761512" "00016909" "70" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "1" "0000761513" "00016909" "70" "356" "0" "358" "0" "c.356_358del" "r.(?)" "p.(Cys119del)" "1" "0000761514" "00016909" "50" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Ala116Ser)" "1" "0000761515" "00016909" "70" "318" "0" "318" "0" "c.318del" "r.(?)" "p.(Leu107Serfs*32)" "1" "0000761516" "00016909" "90" "310" "0" "313" "0" "c.310_313del" "r.(?)" "p.(Ile104Valfs*34)" "1" "0000761517" "00016909" "50" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Tyr101=)" "1" "0000761518" "00016909" "70" "303" "0" "303" "0" "c.303C>G" "r.(?)" "p.(Tyr101*)" "1" "0000761519" "00016909" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" 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"p.(Met67_Gly68delinsArgHisArg)" "1" "0000761530" "00016909" "70" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Gly68Arg)" "1" "0000761531" "00016909" "90" "205" "0" "205" "0" "c.205del" "r.(?)" "p.(Val69Cysfs*30)" "1" "0000761532" "00016909" "50" "199" "0" "201" "0" "c.199_201del" "r.(?)" "p.(Met67del)" "1" "0000761533" "00016909" "70" "178" "0" "178" "0" "c.178del" "r.(?)" "p.(Val60Cysfs*5)" "1" "0000761534" "00016909" "90" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761535" "00016909" "50" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Asp50His)" "1" "0000761536" "00016909" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761537" "00016909" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "1" "0000761538" "00016909" "50" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Leu41Pro)" "1" "0000761539" "00016909" "50" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Leu39Pro)" "1" "0000761540" "00016909" "70" "112" "0" "112" "0" "c.112G>T" "r.(?)" "p.(Gly38*)" "1" "0000761541" "00016909" "90" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761542" "00016909" "90" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Ile33Hisfs*12)" "1" "0000761543" "00016909" "30" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "1" "0000761544" "00016909" "70" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Ser27Phe)" "1" "0000761545" "00016909" "90" "74" "0" "77" "0" "c.74_77del" "r.(?)" "p.(Trp25Serfs*12)" "1" "0000761546" "00016909" "50" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Trp25Cys)" "1" "0000761547" "00016909" "90" "73" "0" "74" "0" "c.73_74del" "r.(?)" "p.(Trp25Valfs*19)" "1" "0000761548" "00016909" "90" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21*)" "1" "0000761549" "00016909" "50" "44" "0" "44" "0" "c.44A>G" "r.(?)" "p.(Lys15Arg)" "1" "0000761550" "00016909" "70" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "1" "0000761551" "00016909" "50" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Trp)" "1" "0000761552" "00016909" "50" "4" "0" "4" "0" "c.4G>T" "r.(?)" "p.(Ala2Ser)" "1" "0000761553" "00016909" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000761554" "00016909" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000761555" "00016909" "10" "-11" "0" "-11" "0" "c.-11A>C" "r.(?)" "p.(=)" "1" "0000761556" "00016909" "51" "-11" "0" "-11" "0" "c.-11A>C" "r.(?)" "p.?" "1" "0000761557" "00016909" "99" "" "0" "" "0" "c.-281_(581+1_582-1){0}" "r.?" "p.?" "1" "0000761558" "00016909" "99" "" "0" "" "0" "c.-281_(581+1_582-1){0}" "r.?" "p.?" "1" "0000761559" "00016909" "99" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000761560" "00016909" "99" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000761561" "00016909" "79" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000761562" "00016909" "95" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Trp)" "1" "0000761563" "00016909" "77" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "1" "0000761564" "00016909" "55" "44" "0" "44" "0" "c.44A>G" "r.(?)" "p.(Lys15Arg)" "1" "0000761565" "00016909" "99" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21*)" "1" "0000761566" "00016909" "99" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21*)" "1" "0000761567" "00016909" "99" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21*)" "1" "0000761568" "00016909" "99" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21*)" "1" "0000761569" "00016909" "99" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21*)" "1" "0000761570" "00016909" "99" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21*)" "1" "0000761571" "00016909" "79" "73" "0" "74" "0" "c.73_74del" "r.(?)" "p.(Trp25Valfs*19)" "1" "0000761572" "00016909" "79" "73" "0" "74" "0" "c.73_74del" "r.(?)" "p.(Trp25Valfs*19)" "1" "0000761573" "00016909" "79" "74" "0" "77" "0" "c.74_77del" "r.(?)" "p.(Trp25Serfs*12)" "1" "0000761574" "00016909" "77" "826" "0" "826" "0" "c.826G>T" "r.(?)" 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"p.(Ile32Val)" "1" "0000761586" "00016909" "73" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "1" "0000761587" "00016909" "79" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Ile33Hisfs*12)" "1" "0000761588" "00016909" "79" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Ile33Hisfs*12)" "1" "0000761589" "00016909" "79" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Ile33Hisfs*12)" "1" "0000761590" "00016909" "99" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Ile33Hisfs*12)" "1" "0000761591" "00016909" "77" "112" "0" "112" "0" "c.112G>T" "r.(?)" "p.(Gly38*)" "1" "0000761592" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761593" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761594" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761595" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761596" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761597" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761598" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761599" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761600" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761601" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761602" "00016909" "99" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "1" "0000761603" "00016909" "75" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Leu39Pro)" "1" "0000761604" "00016909" "55" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Leu41Pro)" "1" "0000761605" "00016909" "75" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "1" "0000761606" "00016909" "55" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "1" "0000761607" "00016909" "55" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "1" "0000761608" "00016909" "55" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "1" "0000761609" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761610" "00016909" "59" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761611" "00016909" "79" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761612" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761613" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761614" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761615" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761616" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761617" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761618" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761619" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761620" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761621" "00016909" "79" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761622" "00016909" "79" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761623" "00016909" "79" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761624" "00016909" "79" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761625" "00016909" "79" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761626" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761627" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761628" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761629" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761630" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761631" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761632" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761633" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761634" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761635" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761636" "00016909" "99" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000761637" "00016909" "55" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Asp50His)" "1" "0000761638" "00016909" "55" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Asp50His)" "1" "0000761639" "00016909" "55" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Asp50His)" "1" "0000761640" "00016909" "55" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Asp50His)" "1" "0000761641" "00016909" "99" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761642" "00016909" "99" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761643" "00016909" "59" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761644" "00016909" "59" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761645" "00016909" "99" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761646" "00016909" "99" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761647" "00016909" "99" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761648" "00016909" "99" "163" "0" "163" "0" "c.163del" "r.(?)" "p.(Ser55Leufs*10)" "1" "0000761649" "00016909" "55" "199" "0" "201" "0" "c.199_201del" "r.(?)" "p.(Met67del)" "1" "0000761650" "00016909" "75" "198" "0" "202" "0" "c.198_202delinsAAGACACA" "r.(?)" "p.(Met67_Gly68delinsArgHisArg)" "1" "0000761651" "00016909" "75" "198" "0" "202" "0" "c.198_202delinsAAGACACA" "r.(?)" "p.(Met67_Gly68delinsArgHisArg)" "1" "0000761652" "00016909" "75" "198" "0" "202" "0" "c.198_202delinsAAGACACA" "r.(?)" "p.(Met67_Gly68delinsArgHisArg)" "1" "0000761653" "00016909" "75" "198" "0" "202" "0" "c.198_202delinsAAGACACA" "r.(?)" "p.(Met67_Gly68delinsArgHisArg)" "1" "0000761654" "00016909" "57" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Gly68Arg)" "1" "0000761655" "00016909" "57" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Gly68Arg)" "1" "0000761656" "00016909" "57" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Gly68Arg)" "1" "0000761657" "00016909" "77" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Gly68Arg)" "1" "0000761658" "00016909" "59" "205" "0" "205" "0" "c.205del" "r.(?)" "p.(Val69Cysfs*30)" "1" "0000761659" "00016909" "99" "209" "0" "209" "0" "c.209dup" "r.(?)" "p.(Ser71Ilefs*106)" "1" "0000761660" "00016909" "99" "232" "0" "233" "0" "c.232_233insT" "r.(?)" "p.(Ala78Valfs*99)" "1" "0000761661" "00016909" "77" "246" "0" "246" "0" "c.246C>A" "r.(?)" "p.(Cys82*)" "1" "0000761662" "00016909" "97" "246" "0" "246" "0" "c.246C>A" "r.(?)" "p.(Cys82*)" "1" "0000761663" "00016909" "55" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "1" "0000761664" "00016909" "99" "259" "0" "266" "0" "c.259_266del" "r.(?)" "p.(Asp87Glnfs*87)" "1" "0000761665" "00016909" "99" "259" "0" "266" "0" "c.259_266del" "r.(?)" "p.(Asp87Glnfs*87)" "1" "0000761666" "00016909" "59" "259" "0" "266" "0" "c.259_266del" "r.(?)" "p.(Asp87Glnfs*87)" "1" "0000761667" "00016909" "59" "259" "0" "266" "0" "c.259_266del" "r.(?)" "p.(Asp87Glnfs*87)" "1" "0000761668" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761669" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761670" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761671" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761672" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761673" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761674" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761675" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761676" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761677" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" "p.(Ala89Argfs*11)" "1" "0000761678" "00016909" "99" "265" "0" "268" "0" "c.265_268delinsAGGGCC" "r.(?)" 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"p.(Ser212Gly)" "2" "0000762539" "00016909" "77" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000762540" "00016909" "97" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000762541" "00016909" "77" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000762542" "00016909" "77" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000762543" "00016909" "77" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000762544" "00016909" "77" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000762545" "00016909" "57" "635" "0" "635" "0" "c.635G>C" "r.(?)" "p.(Ser212Thr)" "2" "0000762546" "00016909" "57" "635" "0" "635" "0" "c.635G>C" "r.(?)" "p.(Ser212Thr)" "2" "0000762547" "00016909" "97" "635" "0" "635" "0" "c.635G>C" "r.(?)" "p.(Ser212Thr)" "2" "0000762548" "00016909" "77" "635" "0" "635" "0" "c.635G>C" "r.(?)" "p.(Ser212Thr)" "2" "0000762549" "00016909" "57" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Cys213Arg)" "2" "0000762550" "00016909" "57" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Cys213Arg)" "2" "0000762551" "00016909" "57" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Cys213Arg)" "2" "0000762552" "00016909" "57" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Cys213Arg)" "2" "0000762553" "00016909" "57" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Cys213Arg)" "2" "0000762554" "00016909" "57" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Cys213Ser)" "2" "0000762555" "00016909" "77" "638" "0" "638" "0" "c.638G>C" "r.(?)" "p.(Cys213Ser)" "2" "0000762556" "00016909" "77" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Cys213Phe)" "2" "0000762557" "00016909" "77" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Cys213Phe)" "2" "0000762558" "00016909" "77" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Cys213Phe)" "2" "0000762559" "00016909" "77" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Cys213Phe)" "2" "0000762560" "00016909" "77" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Cys213Phe)" "2" "0000762561" "00016909" "77" "638" "0" "638" "0" "c.638G>T" "r.(?)" "p.(Cys213Phe)" "2" "0000762562" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762563" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762564" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762565" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762566" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762567" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762568" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762569" "00016909" "59" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762570" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762571" "00016909" "99" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000762572" "00016909" "77" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Cys213Trp)" "2" "0000762573" "00016909" "77" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Cys213Trp)" "2" "0000762574" "00016909" "77" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Cys213Trp)" "2" "0000762575" "00016909" "97" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Cys213Trp)" "2" "0000762576" "00016909" "97" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Cys213Trp)" "2" "0000762577" "00016909" "77" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Cys214Tyr)" "2" "0000762578" "00016909" "77" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Cys214Tyr)" "2" "0000762579" "00016909" "79" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.(Cys214Ser)" "2" "0000762580" "00016909" "79" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.(Cys214Ser)" "2" "0000762581" "00016909" "79" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.(Cys214Ser)" "2" "0000762582" "00016909" "79" "642" "0" "642" "0" "c.642C>A" "r.(?)" "p.(Cys214*)" "2" "0000762583" "00016909" "77" "643" "0" "643" "0" "c.643A>T" "r.(?)" "p.(Asn215Tyr)" "2" "0000762584" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762585" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762586" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762587" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762588" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762589" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762590" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762591" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762592" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762593" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762594" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762595" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762596" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762597" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762598" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762599" "00016909" "57" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762600" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762601" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762602" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762603" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762604" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762605" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762606" "00016909" "97" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762607" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762608" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762609" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762610" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762611" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762612" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762613" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762614" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762615" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762616" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762617" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762618" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762619" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762620" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762621" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762622" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762623" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762624" "00016909" "77" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000762625" "00016909" "77" "646" "0" "646" "0" "c.646C>G" "r.(?)" "p.(Pro216Ala)" "2" "0000762626" "00016909" "77" "646" "0" "646" "0" "c.646C>G" "r.(?)" "p.(Pro216Ala)" "2" "0000762627" "00016909" "79" "646" "0" "649" "0" "c.646_649delinsGG" "r.(?)" "p.(Pro216Glyfs*84)" "2" "0000762628" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762629" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762630" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762631" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762632" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762633" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762634" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762635" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762636" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762637" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762638" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762639" "00016909" "95" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762640" "00016909" "75" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762641" "00016909" "95" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762642" "00016909" "95" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762643" "00016909" "95" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000762644" "00016909" "55" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Ser217Gly)" "2" "0000762645" "00016909" "99" "648" "0" "652" "0" "c.(648_652)ins(16)" "r.(?)" "p.(Gln224fs)" "2" "0000762646" "00016909" "55" "652" "0" "652" "0" "c.652T>C" "r.(?)" "p.(Ser218Pro)" "2" "0000762647" "00016909" "79" "653" "0" "653" "0" "c.653C>A" "r.(?)" "p.(Ser218*)" "2" "0000762648" "00016909" "77" "656" "0" "656" "0" "c.656C>G" "r.(?)" "p.(Pro219Arg)" "2" "0000762649" "00016909" "57" "656" "0" "656" "0" "c.656C>G" "r.(?)" "p.(Pro219Arg)" "2" "0000762650" "00016909" "77" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000762651" "00016909" "77" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000762652" "00016909" "77" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000762653" "00016909" "77" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000762654" "00016909" "77" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000762655" "00016909" "77" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000762656" "00016909" "77" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000762657" "00016909" "77" "656" "0" "658" "0" "c.656_658del" "r.(?)" "p.(Pro219del)" "2" "0000762658" "00016909" "77" "657" "0" "662" "0" "c.657_662del" "r.(?)" "p.(Arg220_Pro221del)" "2" "0000762659" "00016909" "99" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000762660" "00016909" "59" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000762661" "00016909" "79" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000762662" "00016909" "79" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000762663" "00016909" "79" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000762664" "00016909" "59" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000762665" "00016909" "99" "658" "0" "658" "0" "c.658del" "r.(?)" "p.(Arg220Glyfs*36)" "2" "0000762666" "00016909" "99" "658" "0" "658" "0" "c.658del" "r.(?)" "p.(Arg220Glyfs*36)" "2" "0000762667" "00016909" "99" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "2" "0000762668" "00016909" "79" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "2" "0000762669" "00016909" "79" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "2" "0000762670" "00016909" "99" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "2" "0000762671" "00016909" "99" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "2" "0000762672" "00016909" "99" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "2" "0000762673" "00016909" "77" "659" "0" "659" "0" "c.659G>C" "r.(?)" "p.(Arg220Pro)" "2" "0000762674" "00016909" "77" "659" "0" "659" "0" "c.659G>C" "r.(?)" "p.(Arg220Pro)" "2" "0000762675" "00016909" "77" "660" "0" "665" "0" "c.660_665del" "r.(?)" "p.(Pro221_Cys222del)" "2" "0000762676" "00016909" "55" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Pro221Leu)" "2" "0000762677" "00016909" "75" "664" "0" "664" "0" "c.664T>A" "r.(?)" "p.(Cys222Ser)" "2" "0000762678" "00016909" "79" "665" "0" "665" "0" "c.665G>C" "r.(?)" "p.(Cys222Ser)" "2" "0000762679" "00016909" "99" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Cys222Tyr)" "2" "0000762680" "00016909" "59" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Cys222Tyr)" "2" "0000762681" "00016909" "57" "669" "0" "673" "0" "c.(669_673)ins(37)" "r.?" "p.?" "2" "0000762682" "00016909" "79" "669" "0" "669" "0" "c.669G>C" "r.(?)" "p.?" "2" "0000762683" "00016909" "79" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Gln226*)" "2" "0000762684" "00016909" "97" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Thr228Ile)" "2" "0000762685" "00016909" "77" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Thr228Ile)" "2" "0000762686" "00016909" "77" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Thr228Ile)" "2" "0000762687" "00016909" "77" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Thr228Ile)" "2" "0000762688" "00016909" "77" "683" "0" "683" "0" "c.683C>T" "r.(?)" "p.(Thr228Ile)" "2" "0000762689" "00016909" "59" "700" "0" "700" "0" "c.700dup" "r.(?)" "p.(Tyr234Leufs*67)" "2" "0000762690" "00016909" "13" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Tyr236=)" "2" "0000762691" "00016909" "79" "708" "0" "708" "0" "c.708C>G" "r.(?)" 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"p.(Gln239*)" "2" "0000762703" "00016909" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "2" "0000762704" "00016909" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "2" "0000762705" "00016909" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "2" "0000762706" "00016909" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "2" "0000762707" "00016909" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "2" "0000762708" "00016909" "55" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Glu242Gly)" "2" "0000762709" "00016909" "99" "730" "0" "730" "0" "c.730A>C" "r.(?)" "p.(Asn244His)" "2" "0000762710" "00016909" "99" "730" "0" "730" "0" "c.730A>C" "r.(?)" "p.(Asn244His)" "2" "0000762711" "00016909" "97" "730" "0" "736" "0" "c.730_736delinsCAGCTCCTCCAGACGGGTGCACCAGAC" "r.(?)" "p.(Asn244Glnfs*19)" "2" "0000762712" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762713" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762714" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762715" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762716" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762717" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762718" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762719" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762720" "00016909" "79" "732" "0" "732" "0" "c.732C>A" "r.(?)" "p.(Asn244Lys)" "2" "0000762721" "00016909" "79" "732" "0" "732" "0" "c.732C>G" "r.(?)" "p.(Asn244Lys)" "2" "0000762722" "00016909" "77" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Trp246Arg)" "2" "0000762723" "00016909" "57" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Trp246Arg)" "2" "0000762724" "00016909" "57" "736" "0" "736" "0" "c.736T>C" "r.(?)" 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"p.(Cys250Gly)" "2" "0000762736" "00016909" "77" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000762737" "00016909" "77" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000762738" "00016909" "77" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000762739" "00016909" "77" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000762740" "00016909" "77" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000762741" "00016909" "77" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000762742" "00016909" "77" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000762744" "00016909" "77" "748" "0" "748" "0" "c.748T>A" "r.(?)" "p.(Cys250Ser)" "2" "0000762745" "00016909" "77" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Cys250Tyr)" "2" "0000762746" "00016909" "79" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000762747" "00016909" "79" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000762748" "00016909" "79" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000762749" "00016909" "79" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000762750" "00016909" "79" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000762751" "00016909" "79" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000762752" "00016909" "79" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000762753" "00016909" "79" "749" "0" "749" "0" "c.749G>T" "r.(?)" "p.(Cys250Phe)" "2" "0000762754" "00016909" "59" "749" "0" "769" "0" "c.749_769delinsCATGA" "r.(?)" "p.(Cys250Serfs*2)" "2" "0000762755" "00016909" "55" "754" "0" "754" "0" "c.754G>C" "r.(?)" "p.(Ala252Pro)" "2" "0000762756" "00016909" "57" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Ala253Asp)" "2" "0000762757" "00016909" "57" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Ala253Asp)" "2" "0000762758" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762759" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762760" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762761" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762762" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762763" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762764" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762765" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762766" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762767" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762768" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762769" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762770" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762771" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762772" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762773" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762774" "00016909" "99" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762775" "00016909" "79" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762776" "00016909" "79" "761" "0" "761" "0" "c.761T>A" "r.(?)" "p.(Leu254Gln)" "2" "0000762777" "00016909" "99" "774" "0" "774" "0" "c.774C>G" "r.(?)" "p.(Tyr258*)" "2" "0000762778" "00016909" "79" "774" "0" "774" "0" "c.774C>A" "r.(?)" "p.(Tyr258*)" "2" "0000762779" "00016909" "55" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Leu261Phe)" "2" "0000762780" "00016909" "77" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000762781" "00016909" "77" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000762782" "00016909" "77" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000762783" "00016909" "77" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000762784" "00016909" "77" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000762785" "00016909" "77" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000762786" "00016909" "77" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000762787" "00016909" "59" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Val268Ile)" "2" "0000762788" "00016909" "99" "809" "0" "810" "0" "c.809_810del" "r.(?)" "p.(Leu270Profs*30)" "2" "0000762789" "00016909" "79" "808" "0" "818" "0" "c.808_818del" "r.(?)" "p.(Leu270Alafs*27)" "2" "0000762790" "00016909" "79" "808" "0" "818" "0" "c.808_818del" "r.(?)" "p.(Leu270Alafs*27)" "2" "0000762791" "00016909" "79" "811" "0" "811" "0" "c.811del" "r.(?)" 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"p.(Leu308Gln)" "3" "0000763024" "00016909" "55" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Pro313Ser)" "3" "0000763025" "00016909" "55" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "3" "0000763026" "00016909" "55" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "3" "0000763027" "00016909" "55" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "3" "0000763028" "00016909" "55" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "3" "0000763029" "00016909" "55" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "3" "0000763030" "00016909" "55" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "3" "0000763031" "00016909" "55" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "3" "0000763032" "00016909" "59" "937" "0" "938" "0" "c.937_938del" "r.(?)" "p.(Pro313Glyfs*78)" "3" "0000763033" "00016909" "99" "945" "0" "945" "0" "c.945del" "r.(?)" "p.(Trp316Glyfs*8)" "3" "0000763034" "00016909" "77" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "3" "0000763035" "00016909" "57" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "3" "0000763036" "00016909" "37" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "3" "0000763037" "00016909" "57" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "3" "0000763038" "00016909" "97" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "3" "0000763039" "00016909" "59" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316*)" "3" "0000763040" "00016909" "59" "961" "0" "961" "0" "c.961G>T" "r.(?)" "p.(Glu321*)" "3" "0000763041" "00016909" "59" "974" "0" "977" "0" "c.974_977del" "r.(?)" "p.(Lys325Argfs*35)" "3" "0000763042" "00016909" "59" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Gln331*)" "3" "0000763043" "00016909" "55" "995" "0" "995" "0" "c.995T>A" "r.(?)" "p.(Val332Glu)" "3" "0000763044" "00016909" "55" "995" "0" "995" "0" "c.995T>A" "r.(?)" "p.(Val332Glu)" "3" "0000763045" "00016909" "55" "995" "0" "995" "0" "c.995T>A" "r.(?)" "p.(Val332Glu)" "3" "0000763046" "00016909" "15" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Glu335=)" "3" "0000763047" "00016909" "55" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Ala337Thr)" "3" "0000763048" "00016909" "55" "1888" "0" "1891" "0" "c.*847_*850del" "r.(?)" "p.(=)" "3" "0000763049" "00016909" "75" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Trp25Cys)" "1" "0000763050" "00016909" "99" "310" "0" "313" "0" "c.310_313del" "r.(?)" "p.(Ile104Valfs*34)" "1" "0000763051" "00016909" "99" "310" "0" "313" "0" "c.310_313del" "r.(?)" "p.(Ile104Valfs*34)" "1" "0000763052" "00016909" "57" "271" "0" "271" "0" "c.271T>A" "r.(?)" "p.(Tyr91Asn)" "1" "0000763053" "00016909" "57" "271" "0" "271" "0" "c.271T>A" "r.(?)" "p.(Tyr91Asn)" "1" "0000763054" "00016909" "77" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000763056" "00016909" "75" "75" "0" "75" "0" "c.75G>C" "r.(?)" "p.(Trp25Cys)" "1" "0000765568" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000765642" "00016909" "70" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "2" "0000765788" "00016909" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Ter)" "" "0000784122" "00016909" "50" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "" "0000784184" "00016909" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000785390" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000785533" "00016909" "90" "536" "0" "536" "0" "c.536G>T" "r.(?)" "p.(Trp179Leu)" "" "0000785548" "00016909" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Pro100Leu)" "" "0000786310" "00016909" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "" "0000786366" "00016909" "50" "643" "0" "643" "0" "c.643A>C" "r.(?)" "p.(Asn215His)" "" "0000786429" "00016909" "90" "461" "0" "463" "0" "c.461_463del" "r.(?)" "p.(Lys154del)" "" "0000786440" "00016909" "90" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Phe211Leu)" "" "0000786441" "00016909" "90" "631" "0" "631" "0" "c.631T>C" "r.(?)" "p.(Phe211Leu)" "" "0000786510" "00016909" "70" "493" "0" "493" "0" "c.493T>C" "r.(?)" "p.(Cys165Arg)" "" "0000788376" "00016909" "50" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Met152Val)" "1" "0000788441" "00016909" "50" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Phe319Leu)" "3" "0000788503" "00016909" "50" "955" "0" "955" "0" "c.955T>C" "r.(?)" "p.(Phe319Leu)" "3" "0000789689" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "1" "0000789693" "00016909" "55" "811" "0" "813" "0" "c.811_813del" "r.(?)" "p.(Leu271del)" "2" "0000789694" "00016909" "70" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "2" "0000789870" "00016909" "50" "586" "0" "586" "0" "c.586A>T" "r.(?)" "p.(Ile196Phe)" "2" "0000790134" "00016909" "10" "318" "0" "318" "0" "c.318del" "r.(?)" "p.(Leu107Serfs*32)" "1" "0000790135" "00016909" "10" "464" "0" "464" "0" "c.464C>G" "r.(?)" "p.(Thr155Ser)" "1" "0000790136" "00016909" "10" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Ser)" "1" "0000790137" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "2" "0000790138" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "2" "0000790431" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000791639" "00016909" "70" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000791925" "00016909" "10" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.?" "2" "0000792131" "00016909" "90" "281" "0" "281" "0" "c.(281^282)G>A" "r.(?)" "p.(Trp94*)" "" "0000792132" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "1" "0000792133" "00016909" "90" "281" "0" "281" "0" "c.(281^282)G>A" "r.(?)" "p.(Trp94*)" "" "0000792394" "00016909" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000793798" "00016909" "70" "625" "0" "625" "0" "c.625G>A" "r.(=)" "p.(=)" "2" "0000793841" "00016909" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000793842" "00016909" "70" "599" "0" "599" "0" "c.599T>G" "r.(?)" "p.(Val200Gly)" "2" "0000793843" "00016909" "70" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Asp50His)" "1" "0000793894" "00016909" "70" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000793960" "00016909" "70" "394" "0" "394" "0" "c.394del" "r.(?)" "p.(Gln132Lysfs*7)" "1" "0000794200" "00016909" "70" "657" "0" "662" "0" "c.657_662del" "r.(?)" "p.(Arg220_Pro221del)" "" "0000794250" "00016909" "90" "911" "0" "912" "0" "c.911_912dup" "r.(?)" "p.(Gly305Argfs*20)" "" "0000794257" "00016909" "70" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000794362" "00016909" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000794929" "00016909" "70" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "2" "0000794986" "00016909" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000795019" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "2" "0000795020" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "2" "0000795021" "00016909" "10" "318" "0" "318" "0" "c.318T>C" "r.(=)" "p.(=)" "1" "0000795022" "00016909" "10" "318" "0" "318" "0" "c.318T>C" "r.(=)" "p.(=)" "1" "0000795023" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(=)" "p.(Gln304Glu)" "2" "0000795024" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(=)" "p.(Gln304Glu)" "2" "0000795025" "00016909" "10" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "2" "0000795940" "00016909" "90" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Leu39Pro)" "1" "0000796725" "00016909" "90" "920" "0" "920" "0" "c.920del" "r.(=)" "p.(=)" "2" "0000796872" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000796946" "00016909" "70" "828" "3" "828" "3" "c.828+3A>T" "r.(?)" "p.?" "2" "0000796947" "00016909" "90" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Leu130Pro)" "1" "0000796948" "00016909" "70" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000796949" "00016909" "70" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "2" "0000796950" "00016909" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000796951" "00016909" "70" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000797124" "00016909" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000797749" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000797750" "00016909" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "" "0000797751" "00016909" "90" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000797752" "00016909" "70" "811" "0" "811" "0" "c.811del" "r.(?)" "p.(Leu271Serfs*7)" "" "0000797755" "00016909" "70" "808" "0" "818" "0" "c.808_818del" "r.(?)" "p.(Leu270Alafs*27)" "" "0000797756" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000797757" "00016909" "70" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Gln160*)" "" "0000797758" "00016909" "70" "808" "0" "818" "0" "c.808_818del" "r.(?)" "p.(Leu270Alafs*27)" "" "0000797759" "00016909" "70" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Pro210Ser)" "" "0000797760" "00016909" "70" "276" "0" "276" "0" "c.276dup" "r.(?)" "p.(Arg93Glnfs*84)" "" "0000797761" "00016909" "90" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000797767" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000797769" "00016909" "70" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Gln226*)" "" "0000798055" "00016909" "50" "995" "0" "995" "0" "c.995T>A" "r.(?)" "p.(Val332Glu)" "" "0000798056" "00016909" "50" "995" "0" "995" "0" "c.995T>A" "r.(?)" "p.(Val332Glu)" "" "0000798057" "00016909" "70" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Asp173Asn)" "" "0000798058" "00016909" "50" "652" "0" "652" "0" "c.652T>C" "r.(?)" "p.(Ser218Pro)" "" "0000798059" "00016909" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "" "0000798060" "00016909" "50" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "" "0000798061" "00016909" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000798477" "00016909" "50" "583" "0" "588" "0" "c.583_588del" "r.(?)" "p.(Leu195_Gln196del)" "2" "0000798480" "00016909" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "1" "0000798482" "00016909" "50" "483" "0" "483" "0" "c.483C>G" "r.(?)" "p.(Ile161Met)" "1" "0000802595" "00016909" "50" "933" "0" "933" "0" "c.933C>A" "r.(?)" "p.(Ser311Arg)" "" "0000802596" "00016909" "90" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Phe211Leu)" "" "0000810864" "00016909" "70" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "2" "0000810869" "00016909" "50" "1054" "0" "1054" "0" "c.*13C>T" "r.(?)" "p.(=)" "2" "0000810883" "00016909" "50" "1054" "0" "1054" "0" "c.*13C>T" "r.(?)" "p.(=)" "2" "0000810914" "00016909" "30" "-11" "0" "-11" "0" "c.-11A>C" "r.(=)" "p.(=)" "1" "0000810939" "00016909" "50" "1054" "0" "1054" "0" "c.*13C>T" "r.(?)" "p.(=)" "2" "0000811511" "00016909" "70" "657" "0" "662" "0" "c.657_662del" "r.(?)" "p.(Arg220_Pro221del)" "" "0000811824" "00016909" "70" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "" "0000811864" "00016909" "70" "460" "0" "460" "0" "c.460A>C" "r.(?)" "p.(Lys154Gln)" "" "0000811873" "00016909" "70" "946" "0" "946" "0" "c.946T>G" "r.(?)" "p.(Trp316Gly)" "" "0000815303" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000815304" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000815305" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000815323" "00016909" "90" "356" "0" "365" "0" "c.356_365del" "r.(?)" "p.(Cys119Phefs*17)" "" "0000815324" "00016909" "90" "356" "0" "365" "0" "c.356_365del" "r.(?)" "p.(Cys119Phefs*17)" "" "0000815373" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000815948" "00016909" "90" "113" "0" "113" "0" "c.113del" "r.(?)" "p.(Gly38Aspfs*4)" "" "0000816100" "00016909" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000816118" "00016909" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "" "0000816131" "00016909" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "" "0000816138" "00016909" "70" "642" "0" "642" "0" "c.642C>A" "r.(?)" "p.(Cys214*)" "" "0000816142" "00016909" "70" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Pro221Leu)" "" "0000816145" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "" "0000816153" "00016909" "50" "694" "0" "694" "0" "c.694G>C" "r.(?)" "p.(Ala232Pro)" "" "0000816184" "00016909" "70" "828" "1" "828" "1" "c.828+1G>T" "r.spl" "p.(?)" "" "0000816217" "00016909" "70" "513" "0" "513" "0" "c.513dup" "r.(?)" "p.(Arg172Serfs*5)" "" "0000816221" "00016909" "50" "828" "3" "828" "3" "c.828+3A>T" "r.spl?" "p.(?)" "" "0000816233" "00016909" "50" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000816381" "00016909" "50" "794" "0" "794" "0" "c.794T>C" "r.(?)" "p.(Met265Thr)" "" "0000816423" "00016909" "50" "537" "0" "537" "0" "c.537G>T" "r.(?)" "p.(Trp179Cys)" "" "0000816680" "00016909" "70" "652" "0" "652" "0" "c.652T>C" "r.(?)" "p.(Ser218Pro)" "" "0000817307" "00016909" "90" "205" "0" "205" "0" "c.205delG" "r.(?)" "p.(Val69Cysfs*30)" "1" "0000817498" "00016909" "50" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000819062" "00016909" "70" "660" "0" "665" "0" "c.660_665del" "r.(?)" "p.(Pro221_Cys222del)" "" "0000819077" "00016909" "70" "422" "0" "422" "0" "c.422delA" "r.(?)" "p.(Tyr141Serfs*12)" "" "0000819078" "00016909" "70" "421" "0" "421" "0" "c.421T>C" "r.(?)" "p.(Tyr141His)" "" "0000819080" "00016909" "70" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Trp179*)" "" "0000819431" "00016909" "70" "582" "-2" "582" "-2" "c.582-2A>T" "r.spl" "p.(?)" "" "0000819480" "00016909" "70" "904" "0" "904" "0" "c.904G>T" "r.(?)" "p.(Glu302*)" "" "0000819492" "00016909" "70" "513" "0" "513" "0" "c.513dup" "r.(?)" "p.(Arg172Serfs*5)" "" "0000819497" "00016909" "70" "273" "0" "273" "0" "c.273T>A" "r.(?)" "p.(Tyr91*)" "" "0000819505" "00016909" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000819516" "00016909" "70" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204*)" "" "0000819542" "00016909" "70" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.(Trp246Arg)" "" "0000819563" "00016909" "70" "582" "-1" "582" "-1" "c.582-1G>C" "r.(?)" "p.(?)" "" "0000819685" "00016909" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000819686" "00016909" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000819687" "00016909" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000819767" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819768" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819843" "00016909" "70" "945" "0" "945" "0" "c.945del" "r.(?)" "p.(Trp316Glyfs*8)" "" "0000819864" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819927" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819928" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819929" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819939" "00016909" "70" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000819940" "00016909" "70" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000819970" "00016909" "70" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000819971" "00016909" "70" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000819974" "00016909" "70" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000819976" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819977" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819988" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000819999" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000820000" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000820010" "00016909" "70" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000820065" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000820117" "00016909" "70" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "" "0000820118" "00016909" "70" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(Trp316*)" "" "0000820142" "00016909" "70" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000820152" "00016909" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000820166" "00016909" "70" "331" "0" "331" "0" "c.331del" "r.(?)" "p.(Ile111Serfs*28)" "" "0000820169" "00016909" "70" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "" "0000820206" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000820218" "00016909" "70" "461" "0" "463" "0" "c.461_463del" "r.(?)" "p.(Lys154del)" "" "0000820219" "00016909" "70" "461" "0" "463" "0" "c.461_463del" "r.(?)" "p.(Lys154del)" "" "0000820221" "00016909" "70" "377" "0" "377" "0" "c.377T>C" "r.(?)" "p.(Leu126Pro)" "" "0000820246" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000820275" "00016909" "70" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000820299" "00016909" "70" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "" "0000820300" "00016909" "70" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Asp)" "" "0000820301" "00016909" "70" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "" "0000820306" "00016909" "70" "686" "0" "689" "0" "c.686_689del" "r.(?)" "p.(Asn229Thrfs*26)" "" "0000820308" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000820326" "00016909" "70" "582" "-1" "828" "1" "c.(581+1_582-1)_(828+1_829-1)del" "r.spl" "p.(?)" "" "0000820368" "00016909" "70" "461" "0" "464" "0" "c.461_464delinsTGGTCT" "r.(?)" "p.(Lys154Metfs*103)" "" "0000820372" "00016909" "70" "692" "0" "692" "0" "c.692C>A" "r.(?)" "p.(Ser231*)" "" "0000820373" "00016909" "70" "692" "0" "692" "0" "c.692C>A" "r.(?)" "p.(Ser231*)" "" "0000820395" "00016909" "70" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000820408" "00016909" "70" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000820410" "00016909" "70" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Trp246*)" "" "0000820537" "00016909" "70" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000820554" "00016909" "70" "461" "0" "464" "0" "c.461_464delinsTGGTCT" "r.(?)" "p.(Lys154Metfs*103)" "" "0000820560" "00016909" "70" "653" "0" "653" "0" "c.653C>A" "r.(?)" "p.(Ser218*)" "" "0000821015" "00016909" "70" "144" "0" "144" "0" "c.144G>T" "r.(?)" "p.(Arg48Ser)" "" "0000821344" "00016909" "70" "860" "0" "867" "0" "c.860_867del" "r.(?)" "p.(Gln287Profs*11)" "" "0000821345" "00016909" "70" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "" "0000821346" "00016909" "90" "259" "0" "266" "0" "c.259_266del" "r.(?)" "p.(Asp87Glnfs*87)" "" "0000821347" "00016909" "70" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000822047" "00016909" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Leu45Phe)" "" "0000822197" "00016909" "70" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "1" "0000822214" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822215" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822226" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822241" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822250" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822253" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822254" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822298" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822301" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822372" "00016909" "70" "512" "0" "512" "0" "c.512T>G" "r.(?)" "p.(Phe171Cys)" "1" "0000822393" "00016909" "70" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000822411" "00016909" "70" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Ser202Asn)" "2" "0000822422" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000822429" "00016909" "70" "611" "0" "626" "0" "c.611_626del" "r.(?)" "p.(Leu204_Gly205delinsTyrMetArgGluLeuArgHisPheGlyThrArgAsnTyrGlnProGlyArgProSerLeuGlySerProVal)" "2" "0000822430" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000822437" "00016909" "70" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000822440" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822455" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822716" "00016909" "70" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000822717" "00016909" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000822718" "00016909" "70" "310" "0" "313" "0" "c.310_313del" "r.(?)" "p.(Ile104Valfs*34)" "1" "0000822719" "00016909" "70" "771" "0" "771" "0" "c.771C>G" "r.(?)" "p.(Tyr257*)" "2" "0000822720" "00016909" "70" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "1" "0000822721" "00016909" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000822722" "00016909" "70" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "1" "0000822723" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000822724" "00016909" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Trp)" "2" "0000822726" "00016909" "70" "626" "0" "626" "0" "c.626T>A" "r.(?)" "p.(Val209Asp)" "2" "0000822727" "00016909" "70" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Gly148Alafs*5)" "1" "0000822728" "00016909" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000822729" "00016909" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000822730" "00016909" "70" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000822731" "00016909" "70" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "2" "0000822732" "00016909" "70" "920" "0" "920" "0" "c.920del" "r.(?)" "p.(Leu307Argfs*17)" "3" "0000822733" "00016909" "70" "571" "0" "571" "0" "c.571G>T" "r.(?)" "p.(Glu191*)" "1" "0000822734" "00016909" "70" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Cys250Tyr)" "2" "0000822735" "00016909" "70" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Cys250Tyr)" "2" "0000822736" "00016909" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "1" "0000822737" "00016909" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000824396" "00016909" "90" "914" "0" "914" "0" "c.914del" "r.(?)" "p.(Gly305Alafs*19)" "3" "0000824685" "00016909" "50" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000824716" "00016909" "50" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "" "0000824928" "00016909" "70" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000824929" "00016909" "70" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000824930" "00016909" "70" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0000824931" "00016909" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000824934" "00016909" "70" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0000824935" "00016909" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000825522" "00016909" "50" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Gln178Arg)" "" "0000825523" "00016909" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000825524" "00016909" "50" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Gln178Arg)" "" "0000825708" "00016909" "70" "658" "0" "658" "0" "c.658C>T" "r.?" "p.(Arg220Trp)" "2" "0000825976" "00016909" "70" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Ala116Ser)" "1" "0000826017" "00016909" "70" "665" "0" "665" "0" "c.665G>C" "r.?" "p.(Cys222Ser)" "2" "0000827149" "00016909" "90" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "1" "0000827150" "00016909" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "1" "0000827151" "00016909" "90" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "2" "0000827152" "00016909" "90" "643" "0" "643" "0" "c.643A>C" "r.(=)" "p.(=)" "2" "0000827153" "00016909" "90" "535" "0" "535" "0" "c.535T>G" "r.(?)" "p.(Trp179Gly)" "1" "0000828104" "00016909" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000828105" "00016909" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000828106" "00016909" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "0000828329" "00016909" "70" "192" "0" "192" "0" "c.192dup" "r.(?)" "p.(Ile65AspfsTer112)" "" "0000828330" "00016909" "70" "192" "0" "192" "0" "c.192dup" "r.(?)" "p.(Ile65AspfsTer112)" "" "0000828331" "00016909" "90" "371" "0" "371" "0" "c.371del" "r.(?)" "p.(Gly124AlafsTer15)" "" "0000828332" "00016909" "90" "371" "0" "371" "0" "c.371del" "r.(?)" "p.(Gly124AlafsTer15)" "" "0000828333" "00016909" "90" "371" "0" "371" "0" "c.371del" "r.(?)" "p.(Gly124AlafsTer15)" "" "0000828334" "00016909" "70" "629" "0" "629" "0" "c.629C>G" "r.(?)" "p.(Pro210Arg)" "" "0000828335" "00016909" "70" "652" "0" "652" "0" "c.652T>C" "r.(?)" "p.(Ser218Pro)" "" "0000828336" "00016909" "70" "652" "0" "652" "0" "c.652T>C" "r.(?)" "p.(Ser218Pro)" "" "0000828337" "00016909" "70" "734" "0" "734" "0" "c.734dup" "r.(?)" "p.(Trp246ValfsTer55)" "" "0000828338" "00016909" "70" "734" "0" "734" "0" "c.734dup" "r.(?)" "p.(Trp246ValfsTer55)" "" "0000828339" "00016909" "70" "734" "0" "734" "0" "c.734dup" "r.(?)" "p.(Trp246ValfsTer55)" "" "0000828340" "00016909" "90" "774" "0" "774" "0" "c.774C>A" "r.(?)" "p.(Tyr258Ter)" "" "0000828341" "00016909" "90" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000828342" "00016909" "90" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000828343" "00016909" "90" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000828344" "00016909" "70" "493" "0" "493" "0" "c.493T>C" "r.(?)" "p.(Cys165Arg)" "" "0000828345" "00016909" "70" "493" "0" "493" "0" "c.493T>C" "r.(?)" "p.(Cys165Arg)" "" "0000828346" "00016909" "50" "668" "0" "668" "0" "c.668T>A" "r.(?)" "p.(Ile223Asn)" "" "0000828347" "00016909" "50" "318" "0" "332" "0" "c.318_332del" "r.(?)" "p.(Asn109_Phe113del)" "" "0000828348" "00016909" "50" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "" "0000828349" "00016909" "70" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "" "0000828877" "00016909" "90" "372" "0" "381" "0" "c.372_381delinsAAGCTGA" "r.(?)" "p.(Leu126*)" "" "0000828878" "00016909" "90" "440" "0" "440" "0" "c.440del" "r.(?)" "p.(Pro147Leufs*6)" "" "0000828892" "00016909" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Trp179*)" "" "0000829623" "00016909" "90" "594" "0" "594" "0" "c.594C>G" "r.(?)" "p.Ser198Arg" "2" "0000829624" "00016909" "90" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.Pro210Leu" "2" "0000829625" "00016909" "90" "641" "0" "641" "0" "c.641G>C" "r.(?)" "p.Cys214Ser" "2" "0000829626" "00016909" "90" "676" "0" "676" "0" "c.676C>G" "r.(?)" "p.Gln226Glu" "2" "0000829627" "00016909" "90" "736" "0" "736" "0" "c.736T>C" "r.(?)" "p.Trp246Arg" "2" "0000829628" "00016909" "90" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.Gly249Ser" "2" "0000829629" "00016909" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.Val209Ile" "2" "0000829630" "00016909" "90" "635" "0" "635" "0" "c.635G>C" "r.(?)" "p.Ser212Thr" "2" "0000829631" "00016909" "90" "584" "0" "584" "0" "c.584G>T" "r.(?)" "p.Arg195Leu" "2" "0000829632" "00016909" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.Arg220Trp" "2" "0000829633" "00016909" "90" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.Arg220Gln" "2" "0000834543" "00016909" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000844271" "00016909" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000844272" "00016909" "70" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Asp186Asn)" "" "0000844273" "00016909" "70" "595" "0" "595" "0" "c.595A>G" "r.(?)" "p.(Asn199Asp)" "" "0000844274" "00016909" "70" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ser289Leu)" "" "0000844275" "00016909" "70" "583" "0" "583" "0" "c.583C>G" "r.(?)" "p.(Arg195Gly)" "" "0000844276" "00016909" "70" "920" "0" "920" "0" "c.920delT" "r.(?)" "p.(Leu307ArgfsTer17)" "" "0000846847" "00016909" "70" "749" "0" "749" "0" "c.749G>A" "r.(749g>a)" "p.(Cys250Tyr)" "" "0000846854" "00016909" "70" "424" "0" "424" "0" "c.424C>T" "r.(424c>u)" "p.(Arg142Trp)" "" "0000846900" "00016909" "50" "586" "0" "586" "0" "c.586A>T" "r.(?)" "p.(Ile196Phe)" "" "0000851231" "00016909" "50" "656" "0" "656" "0" "c.656C>G" "r.(?)" "p.(Pro219Arg)" "" "0000851232" "00016909" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Pro210Ser)" "" "0000860352" "00016909" "90" "658" "0" "658" "0" "c.658del" "r.(?)" "p.(Arg220GlyfsTer36)" "" "0000880879" "00016909" "30" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000880880" "00016909" "30" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Arg310Lys)" "" "0000880881" "00016909" "30" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0000881439" "00016909" "70" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Gly202Glu)" "" "0000881440" "00016909" "70" "469" "0" "469" "0" "c.469G>T" "r.(?)" "p.(Asp157Tyr)" "" "0000887250" "00016909" "50" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Ala253Asp)" "" "0000887251" "00016909" "90" "582" "-2" "582" "-2" "c.582-2A>G" "r.spl?" "p.?" "" "0000887252" "00016909" "90" "581" "1" "581" "1" "c.581+1G>C" "r.spl?" "p.?" "" "0000887253" "00016909" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Cys166=)" "" "0000887254" "00016909" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Ter)" "" "0000896479" "00016909" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Trp179Ter)" "" "0000896591" "00016909" "90" "372" "0" "381" "0" "c.372_381delCTCGCTGGAGinsAAGCTGA" "r.(?)" "p.(Leu126Ter)" "" "0000896641" "00016909" "90" "440" "0" "440" "0" "c.440delC" "r.(?)" "p.(Pro147LeufsTer6)" "" "0000905613" "00016909" "10" "558" "0" "558" "0" "c.558C>T" "r.(=)" "p.(=)" "1" "0000905614" "00016909" "10" "1150" "0" "1150" "0" "c.1150G>C" "r.?" "p.?" "2" "0000905615" "00016909" "10" "1150" "0" "1150" "0" "c.1150G>C" "r.?" "p.?" "2" "0000905616" "00016909" "10" "558" "0" "558" "0" "c.558C>T" "r.(=)" "p.(=)" "1" "0000905627" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(=)" "p.(=)" "2" "0000905628" "00016909" "10" "929" "0" "929" "0" "c.929G>A" "r.?" "p.?" "2" "0000905629" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.?" "p.?" "2" "0000905630" "00016909" "10" "910" "0" "910" "0" "c.910C>G" "r.(=)" "p.(=)" "2" "0000905631" "00016909" "10" "929" "0" "929" "0" "c.929G>A" "r.?" "p.?" "2" "0000905632" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.?" "p.?" "2" "0000905636" "00016909" "10" "13" "0" "13" "0" "c.13C>T" "r.?" "p.?" "1" "0000905637" "00016909" "10" "318" "0" "318" "0" "c.318T>C" "r.(=)" "p.(=)" "1" "0000905638" "00016909" "10" "13" "0" "13" "0" "c.13C>T" "r.?" "p.?" "1" "0000905639" "00016909" "10" "318" "0" "318" "0" "c.318T>C" "r.(=)" "p.(=)" "1" "0000905744" "00016909" "70" "461" "0" "463" "0" "c.461_463del" "r.(?)" "p.(Lys154del)" "1" "0000905745" "00016909" "70" "461" "0" "463" "0" "c.461_463del" "r.(?)" "p.(Lys154del)" "1" "0000908882" "00016909" "70" "581" "5" "581" "5" "c.581+5G>A" "r.0" "p.0" "1i" "0000908943" "00016909" "30" "910" "0" "910" "0" "c.910C>G" "r.(?)" "p.(Gln304Glu)" "" "0000915835" "00016909" "90" "633" "0" "633" "0" "c.633C>G" "r.(?)" "p.(Phe211Leu)" "2" "0000915861" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000915893" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000915929" "00016909" "70" "748" "0" "748" "0" "c.748T>G" "r.(?)" "p.(Cys250Gly)" "2" "0000915944" "00016909" "90" "582" "-1" "582" "-1" "c.582-1G>A" "r.spl?" "p.(?)" "1i" "0000916017" "00016909" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Trp179Arg)" "1" "0000916298" "00016909" "90" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "2" "0000916374" "00016909" "90" "665" "0" "665" "0" "c.665G>C" "r.(?)" "p.(Cys222Ser)" "2" "0000916427" "00016909" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Trp94*)" "1" "0000916442" "00016909" "70" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "1" "0000916532" "00016909" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195*)" "2" "0000916629" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000916664" "00016909" "70" "352" "0" "353" "0" "c.[352_353del;356del]" "r.(?)" "p.[(Cys118Leufs*58);(Cys119Serfs*20)]" "1" "0000916665" "00016909" "70" "352" "0" "353" "0" "c.[352_353del;356del]" "r.(?)" "p.[(Cys118Leufs*58);(Cys119Serfs*20)]" "1" "0000916670" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000916690" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000916710" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000916751" "00016909" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "2" "0000927638" "00016909" "50" "587" "0" "587" "0" "c.587T>A" "r.(?)" "p.(Ile196Asn)" "" "0000927639" "00016909" "50" "587" "0" "587" "0" "c.587T>A" "r.(?)" "p.(Ile196Asn)" "" "0000927640" "00016909" "50" "702" "0" "706" "0" "c.702_706dup" "r.(?)" "p.(Tyr236Serfs*22)" "" "0000927642" "00016909" "50" "642" "0" "642" "0" "c.642C>G" "r.(?)" "p.(Cys214Trp)" "" "0000927643" "00016909" "50" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000927645" "00016909" "50" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "" "0000927646" "00016909" "50" "771" "0" "772" "0" "c.771_772delinsGA" "r.(?)" "p.(Tyr257*)" "" "0000927647" "00016909" "50" "582" "-1" "582" "-1" "c.582-1G>A" "r.spl?" "p.?" "" "0000927650" "00016909" "50" "582" "-1" "582" "-1" "c.582-1G>A" "r.spl?" "p.?" "" "0000927652" "00016909" "50" "413" "0" "413" "0" "c.413T>G" "r.(?)" "p.(Met138Arg)" "" "0000927654" "00016909" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(Pro210Ser)" "" "0000927655" "00016909" "50" "68" "0" "68" "0" "c.68del" "r.(?)" "p.(Met23Argfs*15)" "" "0000927656" "00016909" "50" "68" "0" "68" "0" "c.68del" "r.(?)" "p.(Met23Argfs*15)" "" "0000927657" "00016909" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000927658" "00016909" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000927659" "00016909" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000927660" "00016909" "50" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Leu41Pro)" "" "0000927661" "00016909" "50" "850" "0" "850" "0" "c.850C>G" "r.(?)" "p.(Arg284Gly)" "" "0000927662" "00016909" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Trp97*)" "" "0000929191" "00016909" "30" "828" "20" "828" "20" "c.828+20G>A" "r.(=)" "p.(=)" "" "0000929192" "00016909" "70" "493" "0" "493" "0" "c.493T>C" "r.(?)" "p.(Cys165Arg)" "" "0000933406" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000954066" "00016909" "90" "708" "0" "708" "0" "c.708C>G" "r.(?)" "p.(Tyr236Ter)" "" "0000958003" "00016909" "90" "634" "0" "634" "0" "c.634A>G" "r.(?)" "p.(Ser212Gly)" "" "0000958016" "00016909" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Pro216Ser)" "" "0000958098" "00016909" "90" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(Trp316Ter)" "" "0000958140" "00016909" "90" "760" "0" "760" "0" "c.760del" "r.(?)" "p.(Leu254CysfsTer2)" "" "0000958144" "00016909" "70" "664" "0" "664" "0" "c.664T>C" "r.(?)" "p.(Cys222Arg)" "" "0000958156" "00016909" "90" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Lys197Glu)" "" "0000958158" "00016909" "90" "920" "0" "920" "0" "c.920del" "r.(?)" "p.(Leu307ArgfsTer17)" "" "0000958169" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "" "0000958221" "00016909" "70" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Leu243Pro)" "" "0000958222" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000958224" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000958238" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000958239" "00016909" "70" "520" "0" "520" "0" "c.520T>G" "r.(?)" "p.(Trp174Gly)" "" "0000958247" "00016909" "90" "934" "0" "934" "0" "c.934del" "r.(?)" "p.(Val312CysfsTer12)" "" "0000958261" "00016909" "90" "515" "0" "515" "0" "c.515G>C" "r.(?)" "p.(Arg172Pro)" "" "0000958387" "00016909" "90" "911" "0" "912" "0" "c.911_912dup" "r.(?)" "p.(Gly305ArgfsTer20)" "" "0000958739" "00016909" "90" "318" "0" "318" "0" "c.318del" "r.(?)" "p.(Leu107SerfsTer32)" "" "0000958836" "00016909" "50" "751" "0" "752" "0" "c.751_752delinsCC" "r.(?)" "p.(Arg251Pro)" "" "0000958837" "00016909" "50" "751" "0" "752" "0" "c.751_752delinsCC" "r.(?)" "p.(Arg251Pro)" "" "0000958891" "00016909" "90" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Val209Ile)" "" "0000958908" "00016909" "50" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Ser217Gly)" "" "0000958928" "00016909" "50" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Lys80Arg)" "" "0000958942" "00016909" "50" "568" "0" "568" "0" "c.568A>G" "r.(?)" "p.(Lys190Glu)" "" "0000958959" "00016909" "50" "809" "0" "809" "0" "c.809T>C" "r.(?)" "p.(Leu270Pro)" "" "0000959118" "00016909" "50" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "" "0000959415" "00016909" "50" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Cys72Tyr)" "" "0000964148" "00016909" "50" "522" "0" "522" "0" "c.522G>C" "r.(?)" "p.(Trp174Cys)" "" "0000977242" "00016909" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Gln160*)" "" "0000977243" "00016909" "30" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Ile32Val)" "" "0000986514" "00016909" "90" "610" "0" "623" "0" "c.610_623del" "r.(?)" "p.(Tyr204ArgfsTer9)" "2" "0000986515" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "1" "0000986516" "00016909" "90" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21Ter)" "1" "0000986517" "00016909" "70" "195" "0" "195" "0" "c.195del" "r.(?)" "p.(Ile65MetfsTer34)" "1" "0000986518" "00016909" "90" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Asp157Asn)" "1" "0000986519" "00016909" "70" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Cys250Tyr)" "2" "0000986520" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "1" "0000986521" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000986522" "00016909" "70" "593" "0" "593" "0" "c.593G>C" "r.(?)" "p.(Ser198Thr)" "2" "0000986523" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000986524" "00016909" "90" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Asp)" "2" "0000986525" "00016909" "90" "545" "0" "545" "0" "c.545dup" "r.(?)" "p.(Asn182LysfsTer36)" "1" "0000986526" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000986527" "00016909" "90" "582" "-1" "828" "1" "c.(581+1_582-1)_(828+1_829-1)del" "r.?" "p.(Asp194Glufs*2)" "1i_2i" "0000986528" "00016909" "90" "605" "0" "605" "0" "c.605G>A" "r.(?)" "p.(Gly202Glu)" "2" "0000986529" "00016909" "90" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Cys213Tyr)" "2" "0000986530" "00016909" "90" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Cys222Tyr)" "2" "0000986531" "00016909" "70" "499" "0" "499" "0" "c.499G>T" "r.(?)" "p.(Gly167Cys)" "1" "0000986532" "00016909" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "1" "0000986533" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000986534" "00016909" "90" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "1" "0000986535" "00016909" "70" "525" "0" "525" "0" "c.525del" "r.(?)" "p.(Phe175LeufsTer81)" "1" "0000986536" "00016909" "70" "938" "0" "938" "0" "c.938del" "r.(?)" "p.(Pro313ArgfsTer11)" "3" "0000986537" "00016909" "70" "493" "0" "493" "0" "c.493T>G" "r.(?)" "p.(Cys165Gly)" "1" "0000986538" "00016909" "90" "609" "0" "625" "0" "c.609_625del" "r.(?)" "p.(Tyr204ProfsTer8)" "2" "0000986539" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "1" "0000986540" "00016909" "90" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "1" "0000986541" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000986542" "00016909" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "1" "0000986543" "00016909" "90" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Gly167Ser)" "1" "0000986544" "00016909" "90" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "1" "0000986545" "00016909" "70" "534" "0" "534" "0" "c.534G>C" "r.(?)" "p.(Gln178His)" "1" "0000986546" "00016909" "70" "599" "0" "599" "0" "c.599T>A" "r.(?)" "p.(Val200Glu)" "2" "0000986547" "00016909" "90" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204Ter)" "2" "0001022270" "00016909" "70" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Gly137Asp)" "" "0001025228" "00016909" "10" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Asp338Gly)" "" "0001025229" "00016909" "50" "229" "0" "229" "0" "c.229C>G" "r.(?)" "p.(Leu77Val)" "" "0001035767" "00016909" "50" "866" "0" "866" "0" "c.866C>T" "r.(?)" 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