### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPGR) # 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}}" "RPGR" "retinitis pigmentosa GTPase regulator" "X" "p21.1" "unknown" "NG_009553.1" "UD_132119013811" "" "http://www.LOVD.nl/RPGR" "" "1" "10295" "6103" "312610" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/RPGR_NM_001034853.1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2021-01-29 10:10:09" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000592" "RPGR" "transcript variant A" "001" "NM_000328.2" "" "NP_000319.1" "" "" "" "-168" "2904" "2448" "38128423" "38186788" "00000" "2012-09-13 12:36:38" "" "" "00023832" "RPGR" "transcript variant C" "002" "NM_001034853.1" "" "NP_001030025.1" "" "" "" "-168" "4550" "3459" "38186788" "38143702" "00006" "2013-09-12 16:52:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 18 "{{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" "" "" "00028" "CILD15" "dyskinesia, ciliary, primary, type 15 (CILD-15)" "" "613808" "" "" "" "00008" "2012-08-20 12:34:48" "00006" "2021-12-10 21:51:32" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01371" "HD" "Huntington disease (HD)" "AD" "143100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02048" "Refsum" "Refsum disease (deficiency, phytanic acid oxidase)" "AR" "266500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02138" "RP3" "retinitis pigmentosa, type 3 (RP3)" "" "300029" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56" "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" "02188" "-" "degeneration, macular, X-linked atrophic" "XLR" "300834" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02228" "CORDX1" "dystrophy, cone-rod, X-linked, type 1 (CORDX-1)" "XL" "304020" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04215" "STGD" "Stargardt disease (STGD)" "" "" "" "" "" "00006" "2015-02-27 20:01:12" "" "" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05426" "XLRP" "retinitis pigmentosa, X-linked (XLRP)" "" "" "" "" "" "00006" "2018-05-07 19:48:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "RPGR" "02138" "RPGR" "02156" "RPGR" "02188" "RPGR" "02228" "RPGR" "05426" ## Individuals ## Do not remove or alter this header ## ## Count = 1764 "{{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}}" "00000005" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000057" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000225" "" "" "" "2" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "Belgium" "" "0" "" "" "" "PCD17" "00000229" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "" "" "" "Morocco" "" "0" "" "" "" "OP561" "00001782" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00001797" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00001800" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00032817" "" "" "" "28" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377173-Pat?" "00032818" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377174-Pat?" "00032819" "" "" "" "6" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377175-Pat?" "00032820" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377176-Pat?" "00032821" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377177-Pat?" "00032822" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377178-Pat?" "00032823" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377179-Pat?" "00033104" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033118" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033120" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033141" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033148" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033155" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00081410" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00105019" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "M" "no" "Spain" "" "0" "" "" "" "76ORG1" "00173866" "" "" "" "2" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP207" "00233540" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233541" "" "" "" "310" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233542" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233543" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233544" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233545" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233546" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233547" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233548" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233549" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233550" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233551" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233552" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233553" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233554" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233555" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233556" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233557" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233558" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233559" "" "" "" "94" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233560" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233561" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233562" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233563" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233564" "" "" "" "94" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233565" "" "" "" "94" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233566" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233567" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233568" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1201 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233569" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1201 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233570" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233571" "" "" "" "30" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233572" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233573" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233574" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233575" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233576" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233802" "" "" "" "346" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233803" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233804" "" "" "" "59" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233805" "" "" "" "59" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233806" "" "" "" "59" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233807" "" "" "" "15" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00239000" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00240459" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00245772" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00276090" "" "" "" "9" "" "00006" "{PMID:Kastner 2015:26720455}" "4-generation family, 9 affected (3F, 6M)" "F;M" "" "Turkey" "" "0" "" "" "" "FamA" "00295554" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00295603" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00296857" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00300293" "" "" "" "1" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00300294" "" "" "" "1" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00300295" "" "" "" "1" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00300296" "" "" "" "2" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00300297" "" "" "" "1" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00300298" "" "" "" "1" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00300299" "" "" "" "1" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00300300" "" "" "" "1" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00300301" "" "" "" "1" "" "01848" "" "" "" "" "" "" "0" "" "" "" "" "00308557" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308558" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308559" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00309384" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309385" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309386" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309387" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309388" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309389" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309390" "" "" "" "1" "" "00004" "{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "MOL0116" "00309391" "" "" "" "1" "" "00004" "{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}" "1 IRD family" "M" "" "Israel" "" "0" "" "" "" "MOL0268" "00309392" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309393" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309394" "" "" "" "1" "" "00004" "{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}" "1 IRD family" "M" "" "Israel" "" "0" "" "" "" "MOL0291" "00309395" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309396" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309397" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309398" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309399" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309400" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309401" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309402" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309403" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309404" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309405" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309406" "" "" "" "9" "" "00004" "{PMID:Sharon 2019:31456290}" "9 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309407" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309732" "" "" "" "1" "" "00006" "{PMID:Kimchi 2018:29276052}" "" "M" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "MOL0618" "00325462" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3340" "00327150" "" "" "" "1" "" "00000" "{PMID:Roepman 1996:8817343}" "" "M" "" "" "" "0" "" "" "" "Pat4767" "00327151" "" "" "" "1" "" "00000" "{PMID:Roepman 1996:8817343}" "" "M" "" "" "" "0" "" "" "" "Pat2884" "00327152" "" "" "" "1" "" "00000" "{PMID:Roepman 1996:8817343}" "" "M" "" "Denmark" "" "0" "" "" "" "Pat2603" "00327153" "" "" "" "1" "" "00000" "{PMID:Roepman 1996:8817343}" "" "M" "" "Denmark" "" "0" "" "" "" "Pat2555" "00327154" "" "" "" "1" "" "00000" "{PMID:Roepman 1996:8817343}" "" "M" "" "Denmark" "" "0" "" "" "" "Pat2550" "00327155" "" "" "" "4" "" "00000" "{PMID:Fujita 1997:9326322}" "4-generation family, 4 affected males, 2 non-affected carrier females" "M" "" "" "" "0" "" "" "" "XLRP112" "00327156" "" "" "" "2" "" "00000" "{PMID:Fujita 1997:9326322}" "3-generation family, 2 affected males, 3 non-affected carrier females" "M" "" "Sweden" "" "0" "" "" "" "XLRP127" "00327157" "" "" "" "1" "" "00000" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "3-generation family, 1 affected male, 2 non-affected carrier females" "M" "" "Germany" "" "0" "" "" "" "RP16/489" "00327158" "" "" "" "1" "" "00000" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "RP07/122" "00327159" "" "" "" "5" "" "00000" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "6-generation family, 5 affected males, 10 non-affected carrier females" "M" "" "Germany" "" "0" "" "" "" "F47/29" "00327160" "" "" "" "1" "" "00000" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "F50/31" "00327161" "" "" "" "1" "" "00000" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "RP49/5474" "00327162" "" "" "" "1" "" "00000" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "F75/52" "00327163" "" "" "" "3" "" "00000" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "3-generation family, 3 affected males, 4 non-affected carrier females" "M" "" "Germany" "" "0" "" "" "" "RP02/59" "00327164" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA520" "00327165" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA101" "00327166" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA224" "00327167" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA863" "00327168" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA507" "00327169" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA910" "00327170" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA434" "00327171" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA109" "00327172" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA463" "00327173" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA380" "00327174" "" "" "" "2" "" "00000" "{PMID:Buraczynska 1997:9399904}" "2-generation family, 2 affected brothers, non-affected carrier mother" "M" "" "" "" "0" "" "" "" "PatA567" "00327175" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA924" "00327176" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA662" "00327177" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA779" "00327178" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "M" "" "" "" "0" "" "" "" "PatA387" "00327179" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327180" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327181" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327182" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327183" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327184" "" "" "" "9" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327185" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327186" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327187" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327188" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327189" "" "" "" "5" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327190" "" "" "" "1" "" "00000" "{PMID:Buraczynska 1997:9399904}" "" "" "" "" "" "0" "" "" "" "" "00327191" "" "" "" "4" "" "00000" "{PMID:Fishman 1998:9488274}" "4-generation family, 4 affected males, 4 non-affected carrier females" "M" "" "United States" "" "0" "" "" "" "" "00327192" "" "" "" "3" "" "00000" "{PMID:Weleber 1997:9366675}" "5-generation family, 3 affected males, 8 non-affected carrier females" "M" "" "United States" "" "0" "" "" "" "" "00327193" "" "" "" "3" "" "00000" "{PMID:Miano 1999:10482958}" "4-generation family, 3 affected males, 2 non-affected carrier females" "" "" "Spain" "" "0" "" "" "" "XLRP-G9" "00327194" "" "" "" "2" "" "00000" "{PMID:Miano 1999:10482958}" "4-generation family, 2 affected males, 3 non-affected carrier females" "" "" "Italy" "" "0" "" "" "" "XLRP-RC" "00327195" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "Italy" "" "0" "" "" "" "XLRP-534" "00327196" "" "" "" "3" "" "00000" "{PMID:Miano 1999:10482958}" "4-generation family, 3 affected males" "" "" "Spain" "" "0" "" "" "" "XLRP-G4" "00327197" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "Spain" "" "0" "" "" "" "XLRP-24" "00327198" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "4-generation family, 1 affected males, 2 mild/1 non-affected carrier females" "" "" "Spain" "" "0" "" "" "" "XLRP-401" "00327199" "" "" "" "2" "" "00000" "{PMID:Miano 1999:10482958}" "3-generation family, 2 affected males, 1 mild/1 non-affected carrier females" "" "" "Italy" "" "0" "" "" "" "XLRP-DA" "00327200" "" "" "" "2" "" "00000" "{PMID:Miano 1999:10482958}" "6-generation family, 2 affected males, 1 non-affected carrier females" "" "" "Spain" "" "0" "" "" "" "XLRP-192" "00327201" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327202" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327203" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327204" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327205" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327206" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327207" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327208" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327209" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327210" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327211" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327212" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327213" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327214" "" "" "" "1" "" "00000" "{PMID:Miano 1999:10482958}" "" "" "" "" "" "0" "" "" "" "control" "00327215" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam5" "00327216" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam7" "00327217" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam8" "00327218" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam9" "00327219" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam10" "00327220" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam6" "00327221" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam17" "00327222" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam19" "00327223" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam3" "00327224" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam25" "00327225" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam26" "00327226" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam27" "00327227" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam28" "00327228" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam35" "00327229" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam38" "00327230" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam39" "00327231" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam43" "00327232" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam47" "00327233" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam50" "00327234" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam51" "00327235" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam57" "00327236" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam60" "00327237" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam61" "00327238" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam62" "00327239" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam76" "00327240" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam73" "00327241" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam68" "00327242" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam22" "00327243" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam63" "00327244" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam70" "00327245" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam78" "00327246" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam79" "00327247" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam80" "00327248" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "M" "" "" "" "0" "" "" "" "Fam81" "00327249" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327250" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327251" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327252" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327253" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327254" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327255" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327256" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327257" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327258" "" "" "" "1" "" "00000" "{PMID:Vervoort 2000:10932196}" "" "" "" "" "" "0" "" "" "" "control" "00327259" "" "" "" "8" "" "00000" "{PMID:Dry 1999:10094550}" "4-generation family, 8 affected males, 6 non-affected carrier females" "M" "" "Netherlands" "" "0" "" "" "" "FamP9145" "00327260" "" "" "" "4" "" "00000" "{PMID:Zito 2003:12920075}" "4-generation family, 4 affected males, 4 non-affected carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "family" "00327261" "" "" "" "2" "" "00000" "{PMID:Moore 2006:16055928}" "2-generation family, 2 affected brothers, 1 affected carrier mother" "F;M" "" "France" "" "0" "" "" "" "Fam1" "00327262" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2007:17405150}" "2-generation family, 1 affected male, non-affected carrier mother" "M" "" "Switzerland" "" "0" "" "" "" "patient" "00327263" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "M" "" "" "" "0" "" "" "" "RP106" "00327264" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "M" "" "" "" "0" "" "" "" "RP1120" "00327265" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "M" "" "" "" "0" "" "" "" "F75" "00327266" "" "" "" "2" "" "00000" "{PMID:Zito 1999:10480356}" "3-generation family, 2 affected males, 5 non-affected carrier females" "M" "" "" "" "0" "" "" "" "XLRP90" "00327267" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "M" "" "" "" "0" "" "" "" "RP87" "00327268" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "" "" "" "" "0" "" "" "" "control" "00327269" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "" "" "" "" "0" "" "" "" "control" "00327270" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "" "" "" "" "0" "" "" "" "control" "00327271" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "" "" "" "" "0" "" "" "" "control" "00327272" "" "" "" "1" "" "00000" "{PMID:Zito 1999:10480356}" "" "" "" "" "" "0" "" "" "" "control" "00327273" "" "" "" "1" "" "00000" "{PMID:Rosenberg 1999:10520237}" "pers.comm. van Duijnhoven" "M" "" "Denmark" "" "0" "" "" "" "Fam5" "00327274" "" "" "" "1" "" "00000" "{PMID:Zito 2000:10737996}" "" "M" "" "United States" "" "0" "" "" "" "FamA" "00327275" "" "" "" "1" "" "00000" "{PMID:Zito 2000:10737996}" "" "M" "" "New Zealand" "" "0" "" "" "" "FamB" "00327276" "" "" "" "1" "" "00000" "{PMID:Zito 2000:10737996}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamC" "00327277" "" "" "" "1" "" "00000" "{PMID:Zito 2000:10737996}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamD" "00327278" "" "" "" "1" "" "00000" "{PMID:Zito 2000:10737996}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamE" "00327279" "" "" "" "10" "" "00000" "{PMID:Guevara-Fujita 2001:11180598}" "family, 10 affected" "M" "" "" "" "0" "" "" "" "A316" "00327280" "" "" "" "5" "" "00000" "{PMID:Guevara-Fujita 2001:11180598}" "family, 5 affected" "M" "" "" "" "0" "" "" "" "A1014" "00327281" "" "" "" "14" "" "00000" "{PMID:Guevara-Fujita 2001:11180598}" "family, 14 affected" "M" "" "" "" "0" "" "" "" "A1021" "00327282" "" "" "" "1" "" "00000" "{PMID:Guevara-Fujita 2001:11180598}" "" "M" "" "" "" "0" "" "" "" "A1066" "00327283" "" "" "" "1" "" "00000" "{PMID:Guevara-Fujita 2001:11180598}" "family" "M" "" "" "" "0" "" "" "" "A1192" "00327284" "" "" "" "4" "" "00000" "{PMID:Zhao 2001:11559860}" "3-generation family, 4 affected male, 4 carrier females" "M" "" "China" "" "0" "" "" "" "FamRP002" "00327285" "" "" "" "15" "" "00000" "{PMID:Koenekoop 2003:14516808}" "4-generation family, 9 affected males, 6 affected/1 non-affected carrier females" "F;M" "" "Canada" "" "0" "" "" "French-Canadian" "FamI" "00327286" "" "" "" "3" "" "00000" "{PMID:Koenekoop 2003:14516808}" "4-generation family, 3 affected males, 2 non-affected carrier females" "F;M" "" "Canada" "" "0" "" "" "French-Canadian" "FamII" "00327287" "" "" "" "1" "" "00000" "{PMID:Demirci 2004:15364249}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00327288" "" "" "" "6" "" "00000" "{PMID:Jin 2005:16052169}" "5-generation family, 6 affected males, 7 non-affected carrier females" "M" "" "Japan" "" "0" "" "" "" "family" "00327289" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327290" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327291" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327292" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327293" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327294" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327295" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327296" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327297" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327298" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327299" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327300" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327301" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327302" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327303" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327304" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327305" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327306" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327307" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327308" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327309" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327310" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327311" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327312" "" "" "" "1" "" "00000" "{PMID:Shu 2007:17195164}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00327313" "" "" "" "9" "" "00000" "{PMID:Glaus 2011:21326217}" "5-generation family, 9 affected males, 2 non-affected carrier females" "M" "" "Switzerland" "" "0" "" "" "" "familyPO-263_II1" "00327314" "" "" "" "14" "" "00000" "{PMID:Bukowy-Bieryłło 2013:22888088}, {PMID:Krawczyński 2004:15170879}" "7-generation family, 14 affected males, 14 non-affected carrier females" "M" "" "Poland" "" "0" "" "" "" "OP-281_II1" "00327315" "" "" "" "1" "" "00000" "{PMID:Bukowy-Bieryłło 2013:22888088}" "" "M" "" "Australia" "" "0" "" "" "" "patient" "00327316" "" "" "" "1" "" "00000" "{PMID:Park 2013:23443027}" "obligate carrier" "F" "" "United States" "" "0" "" "" "" "Pat1" "00327317" "" "" "" "1" "" "00000" "{PMID:Park 2013:23443027}" "obligate carrier" "F" "" "United States" "" "0" "" "" "" "Pat2" "00327318" "" "" "" "1" "" "00000" "{PMID:Park 2013:23443027}" "obligate carrier" "F" "" "United States" "" "0" "" "" "" "Pat4" "00327319" "" "" "" "1" "" "00000" "{PMID:Park 2013:23443027}" "obligate carrier" "F" "" "United States" "" "0" "" "" "" "Pat5" "00327320" "" "" "" "2" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 2 affected" "" "" "United States" "" "0" "" "" "" "Fam1" "00327321" "" "" "" "2" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 2 affected" "" "" "United States" "" "0" "" "" "" "Fam2" "00327322" "" "" "" "4" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 4 affected" "" "" "United States" "" "0" "" "" "" "Fam3" "00327323" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "Fam4a" "00327324" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family" "" "" "United States" "" "0" "" "" "" "Fam5b" "00327325" "" "" "" "2" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 2 affected" "" "" "United States" "" "0" "" "" "" "Fam6" "00327326" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "Fam7a" "00327327" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family" "" "" "United States" "" "0" "" "" "" "Fam8a" "00327328" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family" "" "" "United States" "" "0" "" "" "" "Fam9a" "00327329" "" "" "" "3" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 3 affected" "" "" "United States" "" "0" "" "" "" "Fam10" "00327330" "" "" "" "2" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 2 affected" "" "" "United States" "" "0" "" "" "" "Fam11" "00327331" "" "" "" "2" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 2 affected" "" "" "United States" "" "0" "" "" "" "Fam12" "00327332" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "Fam13a" "00327333" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "Fam4b" "00327334" "" "" "" "2" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 2 affected" "" "" "United States" "" "0" "" "" "" "Fam4c" "00327335" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family" "" "" "United States" "" "0" "" "" "" "Fam5b" "00327336" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "Fam7b" "00327337" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family" "" "" "United States" "" "0" "" "" "" "Fam8b" "00327338" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "Fam7c" "00327339" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family" "" "" "United States" "" "0" "" "" "" "Fam8c" "00327340" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "Fam7d" "00327341" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family" "" "" "United States" "" "0" "" "" "" "Fam8d" "00327342" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family" "" "" "United States" "" "0" "" "" "" "Fam9b" "00327343" "" "" "" "1" "" "00000" "{PMID:Zahid 2013:23681342}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "Fam13b" "00327344" "" "" "" "1" "" "00000" "{PMID:Sengillo 2018:30021045}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00327345" "" "" "" "5" "" "00000" "{PMID:Wang 2018:30313097}" "4-generation family, 5 affected males, 8 non-affected carrier females" "M" "" "China" "" "0" "" "" "" "family" "00327346" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F1" "00327347" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F2" "00327348" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F3" "00327349" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F4" "00327350" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F5" "00327351" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F6" "00327352" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F7" "00327353" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F8" "00327354" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F9" "00327355" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F10" "00327356" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F11" "00327357" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F12" "00327358" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F13" "00327359" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F14" "00327360" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F15" "00327361" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F16" "00327362" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F17" "00327363" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F18" "00327364" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F19" "00327365" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F20" "00327366" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F21" "00327367" "" "" "" "1" "" "00000" "{PMID:Nanda 2018:30567410}" "4-generation family, 2 affected males,3 carrier females" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F22" "00327368" "" "" "" "1" "" "00000" "{PMID:Zhang 2018:30622176}" "3-generation family, 1 affected males,1 carrier female" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "F23" "00327369" "" "" "" "4" "" "00000" "{PMID:Huang 2019:30887160}" "5-generation family, 4 affected males, 3 non-affected carrier females" "M" "" "China" "" "0" "" "" "" "family" "00327370" "" "" "" "4" "" "00000" "{PMID:Fu 2019:31652454}" "5-generation family, 2 affected males, 2 affected carrier females" "F;M" "" "China" "" "0" "" "" "" "family" "00327371" "" "" "" "1" "" "00000" "{PMID:Liu 2000:10862103}" "" "" "" "China" "" "0" "" "" "" "family" "00327372" "" "" "" "1" "" "00000" "{PMID:Liu 2000:10862103}" "" "" "" "China" "" "0" "" "" "" "family" "00327373" "" "" "" "4" "" "00000" "{PMID:Tocino 2019:31033374}" "4-generation family, 4 affected males, 6 non-affected carrier females" "" "" "Spain" "" "0" "" "" "" "family" "00327374" "" "" "" "2" "" "00000" "{PMID:Parmeggiani 2017:27768226}" "2-generation family, 2 affected males, 1 non-affected carrier females" "M" "" "Italy" "" "0" "" "" "" "RP-002" "00327375" "" "" "" "2" "" "00000" "{PMID:Parmeggiani 2017:27768226}" "2-generation family, 2 affected males, 1 non-affected carrier females" "M" "" "Italy" "" "0" "" "" "" "RP-003" "00327376" "" "" "" "1" "" "00000" "Chung ARVO2003" "" "M" "" "" "" "0" "" "" "" "Pat1" "00327377" "" "" "" "1" "" "00000" "Chung ARVO2004" "" "M" "" "" "" "0" "" "" "" "Pat2" "00327378" "" "" "" "1" "" "00000" "Chung ARVO2005" "" "M" "" "" "" "0" "" "" "" "Pat3" "00327379" "" "" "" "1" "" "00000" "Gimenez 2008 HumGenet 124:303" "" "M" "" "Spain" "" "0" "" "" "" "patient" "00327466" "" "" "" "3" "" "00006" "{PMID:Zito 2000:10980543}" "2-generation family, 3 affected males, 2 unaffected carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamNZ1PatIII4" "00327467" "" "" "" "15" "" "00006" "{PMID:Zito 2000:10980543}" "analysis 344 control chromosomes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "control" "00327468" "" "" "00327466" "1" "" "00006" "{PMID:Zito 2000:10980543}" "mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamNZPatII2" "00327469" "" "" "00327466" "1" "" "00006" "{PMID:Zito 2000:10980543}" "mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamNZ1PatIII1" "00327909" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240004" "00327923" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240037" "00327927" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240041" "00327931" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240054" "00327948" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240088" "00327977" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G000996" "00328101" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005204" "00328111" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005229" "00328165" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G006300" "00328237" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G008163" "00328246" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G008990" "00328273" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000120" "00328313" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000194" "00328364" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "F" "" "China" "" "0" "" "" "" "690481III1" "00328365" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "F" "" "China" "" "0" "" "" "" "690213M" "00328366" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "F" "" "China" "" "0" "" "" "" "690274" "00328367" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "690716" "00328368" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "F" "" "China" "" "0" "" "" "" "690904" "00328369" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "F" "" "China" "" "0" "" "" "" "690380M" "00328370" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "680470" "00328371" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "690247" "00328372" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "F" "" "China" "" "0" "" "" "" "690993" "00328373" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "F" "" "China" "" "0" "" "" "" "690735M" "00328484" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14005612" "00328485" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15000879" "00328553" "" "" "" "15" "" "00000" "{PMID:Aguirre 2002:12387791}" "4-generation family, 15 affected males, 11 unaffected carrier females" "M" "" "United States" "" "0" "" "" "" "XLRP-319" "00328554" "" "" "" "2" "" "00000" "{PMID:Andreasson 1997:9222238}, {PMID:Andreasson 2003:14566651}" "3-generation family, 2 affected males, 2 unaffected carrier females" "M" "" "Sweden" "" "0" "" "" "" "xlrp-126/Fam70" "00328555" "" "" "" "5" "" "00000" "{PMID:Andreasson 1997:9222238}, {PMID:Andreasson 2003:14566651}" "4-generation family, 5 affected males, 6 carrier females" "M" "" "Sweden" "" "0" "" "" "" "xlrp-122/Fam24" "00328556" "" "" "" "3" "" "00000" "{PMID:Andreasson 1997:9222238}, {PMID:Andreasson 2003:14566651}" "2-generation family, 3 affected males, 2 carrier females" "M" "" "Sweden" "" "0" "" "" "" "xlrp-127/Fam109" "00328557" "" "" "" "2" "" "00000" "{PMID:Andreasson 2003:14566651}" "3-generation family, 2 affected males, 3 unaffected carrier females" "M" "" "Sweden" "" "0" "" "" "" "Fam640" "00328558" "" "" "" "3" "" "00000" "{PMID:Andreasson 2003:14566651}" "3-generation family, 3 affected males, 2 unaffected carrier females" "M" "" "Sweden" "" "0" "" "" "" "Fam143" "00328559" "" "" "" "1" "" "00000" "{PMID:Andreasson 2003:14566651}" "" "M" "" "Sweden" "" "0" "" "" "" "Fam130" "00328560" "" "" "" "12" "" "00000" "{PMID:Ayyagari 2002:12160730}" "4-generation family, 12 affected males, 8 unaffected carrier females" "M" "" "United States" "" "0" "" "" "" "" "00328561" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "RP87/11893" "00328562" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "XRP3/8809" "00328563" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328564" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328565" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328566" "" "" "" "5" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328567" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328568" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328569" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328570" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328571" "" "" "" "13" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328572" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328573" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328574" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328575" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328576" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328577" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328578" "" "" "" "3" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328579" "" "" "" "2" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328580" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328581" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328582" "" "" "" "14" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328583" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "does not seggregate" "M" "" "Germany" "" "0" "" "" "" "control" "00328584" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328585" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328586" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328587" "" "" "" "11" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328588" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328589" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328590" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "family" "00328591" "" "" "" "2" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328592" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "RP67/5619" "00328593" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "control" "00328594" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "XRP28/8805" "00328595" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "RP90/13532" "00328596" "" "" "" "1" "" "00000" "{PMID:Bader 2003:12657579}" "" "M" "" "Germany" "" "0" "" "" "" "RP22/4094" "00328597" "" "" "" "12" "" "00000" "{PMID:Banin 2007:17480003}" "4-generation family, 4 affected male, 8 affected carrier females" "M" "" "Israel" "" "0" "" "" "" "MOL0052" "00328598" "" "" "" "10" "" "00000" "{PMID:Bauer 1998:9804156}" "4-generation family, 1 affected male, 4 carrier females" "M" "" "United States" "" "0" "" "" "" "XLRP-142" "00328599" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328600" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "control" "00328601" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328602" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "control" "00328603" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "control" "00328604" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "control" "00328605" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "control" "00328606" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328607" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328608" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328609" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328610" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "control" "00328611" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "control" "00328612" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328613" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328614" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328615" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328616" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328617" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328618" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328619" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328620" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328621" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "cases" "00328622" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat725" "00328623" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat1689" "00328624" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat767" "00328625" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat902" "00328626" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat774" "00328627" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat688" "00328628" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328629" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328630" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328631" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328632" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328633" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328634" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328635" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328636" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328637" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328638" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328639" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328640" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328641" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328642" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328643" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328644" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328645" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328646" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328647" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328648" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328649" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328650" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328651" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328652" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328653" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328654" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328655" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328656" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328657" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328658" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328659" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328660" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328661" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328662" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat163" "00328663" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat1745" "00328664" "" "" "" "1" "" "00000" "Demirci ARVO2003" "" "M" "" "" "" "0" "" "" "" "" "00328665" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat333" "00328666" "" "" "" "3" "" "00000" "{PMID:Demirci 2006:16387007}" "2-generation family, 3 affected males, 3 unaffected carrier females" "M" "" "" "" "0" "" "" "" "" "00328667" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat913" "00328668" "" "" "" "8" "" "00000" "{PMID:Ebenezer 2005:15914600}" "3-generation family, 8 affected males, 4 unaffected carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamB" "00328669" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat102" "00328670" "" "" "" "5" "" "00000" "{PMID:Ebenezer 2005:15914600}" "3-generation family, 5 affected males, 9 unaffected carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamA" "00328671" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat1734" "00328672" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat310" "00328673" "" "" "" "5" "" "00000" "{PMID:Fishman 1998:9855162}" "5-generation family, 5 affected males, 6 carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00328674" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat555" "00328675" "" "" "" "7" "" "00000" "{PMID:Fishman 1998:9855162}" "4-generation family, 7 affected males, 5 carrier females" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2" "00328676" "" "" "" "1" "" "00000" "Gire 2003 (Vis Sci44:Abstract 2313)" "" "M" "" "" "" "0" "" "" "" "" "00328677" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat652" "00328678" "" "" "" "3" "" "00000" "{PMID:Iannaccone 2003:14627685}" "6-generation family, 3 affected males, 4 unaffected carrier females" "M" "" "United States" "" "0" "" "" "" "family" "00328679" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat1708" "00328680" "" "" "" "1" "" "00000" "Itabash 2004, ARVO Vis Sci 45:E2468" "" "M" "" "Japan" "" "0" "" "" "" "" "00328681" "" "" "" "1" "" "00000" "{PMID:Breuer 2002:11992260}" "" "M" "" "United States" "" "0" "" "" "" "Pat1661" "00328682" "" "" "" "1" "" "00000" "Itabash 2004, ARVO Vis Sci 45:E2468" "" "M" "" "Japan" "" "0" "" "" "" "" "00328683" "" "" "" "1" "" "00000" "{PMID:Demirci 2002:11857109}" "" "M" "" "" "" "0" "" "" "" "Fam3" "00328684" "" "" "" "1" "" "00000" "Itabash 2004, ARVO Vis Sci 45:E2468" "" "M" "" "Japan" "" "0" "" "" "" "" "00328685" "" "" "" "1" "" "00000" "{PMID:Demirci 2002:11857109}" "" "M" "" "" "" "0" "" "" "" "Fam2" "00328686" "" "" "" "2" "" "00000" "{PMID:Jacobson 1997:9331262}" "4-generation family, 2 affected males, 7 carrier females" "M" "" "United States" "" "0" "" "" "" "" "00328687" "" "" "" "1" "" "00000" "{PMID:Demirci 2002:11857109}" "" "M" "" "" "" "0" "" "" "" "Fam1" "00328688" "" "" "" "1" "" "00000" "Jin 2005, ARVO Vis Sci 46:E1825" "" "M" "" "Japan" "" "0" "" "" "" "" "00328689" "" "" "" "1" "" "00000" "Jin 2005, ARVO Vis Sci 46:E1825" "" "M" "" "Japan" "" "0" "" "" "" "" "00328690" "" "" "" "1" "" "00000" "{PMID:Demirci 2002:11857109}" "" "M" "" "" "" "0" "" "" "" "patient" "00328691" "" "" "" "1" "" "00000" "Jin 2005, ARVO Vis Sci 46:E1825" "" "M" "" "Japan" "" "0" "" "" "" "" "00328692" "" "" "" "1" "" "00000" "Jin 2005, ARVO Vis Sci 46:E1825" "" "M" "" "Japan" "" "0" "" "" "" "" "00328693" "" "" "" "1" "" "00000" "{PMID:Li 2005:16086276}" "" "M" "" "China" "" "0" "" "" "" "family" "00328694" "" "" "" "14" "" "00000" "{PMID:Mears 2000:10970770}" "5-generation family, 6 affected males, 8 carrier females" "M" "" "United States" "" "0" "" "" "" "family" "00328695" "" "" "" "1" "" "00000" "Naoi 2003, ARVO Vis Sci 44:E2311" "" "M" "" "Japan" "" "0" "" "" "" "" "00328696" "" "" "" "1" "" "00000" "Naoi 2003, ARVO Vis Sci 44:E2311" "" "M" "" "Japan" "" "0" "" "" "" "" "00328697" "" "" "" "1" "" "00000" "Naoi 2003, ARVO Vis Sci 44:E2311" "" "M" "" "Japan" "" "0" "" "" "" "" "00328698" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328699" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328700" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328701" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328702" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328703" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328704" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328705" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328706" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328707" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328708" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328709" "" "" "" "1" "" "00000" "{PMID:Pusch 2002:12402343}" "" "M" "" "Germany" "" "0" "" "" "" "" "00328710" "" "" "" "6" "" "00000" "{PMID:Rebello 2003:12859409}" "6-generation family, 5 affected males, 7 carrier females" "M" "" "South Africa" "" "0" "" "" "" "family" "00328711" "" "" "" "3" "" "00000" "{PMID:Roepman 1996:8776599], {PMID:Kirschne 1999:10401007}" "3-generation family, 5 affected males, 1 affected/1 unaffected carrier females" "M" "" "Denmark" "" "0" "" "" "" "Pat2557" "00328712" "" "" "" "5" "" "00000" "{PMID:Rozet 2002:11950860}" "3-generation family, 3 affected males, 2 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam2" "00328713" "" "" "" "10" "" "00000" "{PMID:Rozet 2002:11950860}" "4-generation family, 3 affected males, 7 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam9" "00328714" "" "" "" "3" "" "00000" "{PMID:Rozet 2002:11950860}" "3-generation family, 2 affected males, 1 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam13" "00328715" "" "" "" "11" "" "00000" "{PMID:Rozet 2002:11950860}" "5-generation family, 5 affected males, 6 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam1" "00328716" "" "" "" "3" "" "00000" "{PMID:Rozet 2002:11950860}" "4-generation family, 1 affected males, 2 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam11" "00328717" "" "" "" "6" "" "00000" "{PMID:Rozet 2002:11950860}" "4-generation family, 2 affected males, 4 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam12" "00328718" "" "" "" "9" "" "00000" "{PMID:Rozet 2002:11950860}" "4-generation family, 6 affected males, 3 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam6" "00328719" "" "" "" "3" "" "00000" "{PMID:Rozet 2002:11950860}" "3-generation family, 2 affected males, 1 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam14" "00328720" "" "" "" "6" "" "00000" "{PMID:Rozet 2002:11950860}" "4-generation family, 3 affected males, 3 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam4" "00328721" "" "" "" "8" "" "00000" "{PMID:Rozet 2002:11950860}" "5-generation family, 5 affected males, 3 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam10" "00328722" "" "" "" "6" "" "00000" "{PMID:Rozet 2002:11950860}" "4-generation family, 4 affected males, 2 affected carrier females" "M" "" "France" "" "0" "" "" "" "Fam3" "00328723" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328724" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328725" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328726" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328727" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328728" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328729" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328730" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328731" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328732" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328733" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328734" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328735" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328736" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328737" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328738" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328739" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328740" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328741" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328742" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328743" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328744" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328745" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328746" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328747" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328748" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328749" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328750" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328751" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328752" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328753" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328754" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328755" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328756" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328757" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328758" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328759" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328760" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328761" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328762" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328763" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328764" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328765" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328766" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328767" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328768" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328769" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328770" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328771" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328772" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328773" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328774" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328775" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328776" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328777" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328778" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328779" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328780" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328781" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328782" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328783" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328784" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328785" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328786" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328787" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328788" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328789" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328790" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328791" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328792" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328793" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328794" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328795" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328796" "" "" "" "1" "" "00000" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "M" "" "(United States)" "" "0" "" "" "" "patient" "00328797" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328798" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328799" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328800" "" "" "" "1" "" "00000" "{PMID:Sharon 2003:14564670}" "" "M" "" "United States" "" "0" "" "" "" "patient" "00328801" "" "" "" "1" "" "00000" "Sharon 2005, ARVO Vis Sci 46:E1819" "" "M" "" "United States" "" "0" "" "" "" "" "00328802" "" "" "" "12" "" "00000" "{PMID:Yang 2002:11875055}" "4-generation family, 1 affected male, 2 unaffected carrier females" "M" "" "United States" "" "0" "" "" "" "FamB" "00328803" "" "" "" "2" "" "00000" "{PMID:Yang 2002:11875055}" "4-generation family, 2 affected males, 3 unaffected carrier females" "M" "" "United States" "" "0" "" "" "" "FamA" "00328804" "" "" "" "1" "" "00000" "{PMID:Yokoyama 2001:11754050}" "" "M" "" "Japan" "" "0" "" "" "" "Fam1" "00328805" "" "" "" "1" "" "00000" "{PMID:Yokoyama 2001:11754050}" "" "M" "" "Japan" "" "0" "" "" "" "Fam2" "00328806" "" "" "" "1" "" "00000" "{PMID:Yokoyama 2001:11754050}" "" "M" "" "Japan" "" "0" "" "" "" "Fam3" "00331272" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "family" "M" "" "Japan" "" "0" "" "" "" "Pat26" "00331273" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "patient, no family history" "M" "" "Japan" "" "0" "" "" "" "Pat27" "00331290" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "family" "M" "" "Japan" "" "0" "" "" "" "Pat44" "00331300" "" "" "" "1" "" "00000" "{PMID:Wawrocka 2018:29769798}" "" "" "" "Poland" "" "0" "" "" "" "Fam13" "00331301" "" "" "" "1" "" "00000" "{PMID:Wawrocka 2018:29769798}" "" "" "" "Poland" "" "0" "" "" "" "Fam7" "00332051" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat189" "00332552" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00333357" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat6" "00333358" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat8" "00333394" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD12–02" "00333412" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD12–01" "00333473" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "SRF_1065" "00333524" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "73" "00333525" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "74" "00333526" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "75" "00333527" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" 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"00000" "{PMID:Vincent 2017:28488341}" "family, 6 affected, patient, brother, sister\'s son, three daughters" "M" "no" "Samoa" "" "0" "" "" "" "166" "00335160" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "6100" "00335161" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "8119" "00335162" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "701" "00335163" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "1419" "00335164" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "3858" "00335165" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "3442" "00335166" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "5927" "00335167" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "6493" "00335253" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/41" "00335316" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat29" "00335317" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat42" "00335318" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat59" "00335323" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "F" "" "Spain" "" "0" "" "" "" "Pat70" "00335324" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "F" "" "Spain" "" "0" "" "" "" "Pat78" "00335423" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP029" "00335429" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP058" "00335499" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD012" "00335500" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD067" "00335501" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD075" "00335502" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD017" "00335718" "" "" "" "6" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335719" "" "" "" "11" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00358741" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358742" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358743" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358744" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358792" "" "" "" "1" "" "00000" "{PMID:Zhang 2016:27596865}" "family" "M" "" "United States" "" "0" "" "" "Hispanic" "BLM008" "00358795" "" "" "" "1" "" "00000" "{PMID:Zhang 2016:27596865}" "simplex case" "M" "" "United States" "" "0" "" "" "Hispanic" "BLM086" "00358962" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71192" "00358963" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71762" "00358964" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case72007" "00359042" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13012292" "00359125" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13017314" "00359140" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13011161" "00359169" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13005635" "00359189" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13012899" "00359198" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13018544" "00359220" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13000103" "00359363" "" "" "" "1" "" "00000" "{PMID:Bravo-Gil 2016:27032803}" "see paper" "" "" "Spain" "" "0" "" "" "" "134" "00359368" "" "" "" "1" "" "00000" "{PMID:Bravo-Gil 2016:27032803}" "see paper" "" "" "Spain" "" "0" "" "" "" "15" "00361426" "" "" "" "1" "" "04036" "{PMID:Xu 2014:24938718}" "index case" "M" "no" "China" "" "0" "" "" "Asia" "RP405" "00362602" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362603" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362604" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362605" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362606" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362607" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362608" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with male sibship" "M" "" "France" "" "0" "" "" "French" "" "00362609" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362610" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362611" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362612" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362613" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362614" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with male sporadic case" "M" "" "France" "" "0" "" "" "French" "" "00362615" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362616" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362617" "" "" "" "6" "" "00008" "{PMID:Pelletier 2007:16969763}" "6 families with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362618" "" "" "" "3" "" "00008" "{PMID:Pelletier 2007:16969763}" "3 families with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362619" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362620" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with male sporadic case" "M" "" "France" "" "0" "" "" "French" "" "00362621" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362622" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362623" "" "" "" "6" "" "00008" "{PMID:Pelletier 2007:16969763}" "6 families with familial case of RP with nonambiguous X-linked transmission" "M" "" "France" "" "0" "" "" "French" "" "00362624" "" "" "" "2" "" "00008" "{PMID:Pelletier 2007:16969763}" "2 families with male sporadic case" "M" "" "France" "" "0" "" "" "French" "" "00362625" "" "" "" "4" "" "00008" "{PMID:Pelletier 2007:16969763}" "4 families with familial case of RP with nonambiguous X-linked transmission" "M" "" "France" "" "0" "" "" "French" "" "00362626" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362627" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with male sporadic case" "M" "" "France" "" "0" "" "" "French" "" "00362628" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362629" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362630" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362631" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362632" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362633" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362634" "" "" "" "2" "" "00008" "{PMID:Pelletier 2007:16969763}" "2 families with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362635" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362636" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with XLCOD" "F" "" "France" "" "0" "" "" "French" "" "00362637" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362639" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with male sibship" "M" "" "France" "" "0" "" "" "French" "" "00362640" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362641" "" "" "" "2" "" "00008" "{PMID:Pelletier 2007:16969763}" "2 families with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362642" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362643" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with male sporadic case" "M" "" "France" "" "0" "" "" "French" "" "00362644" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362645" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362646" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362647" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial case of RP with nonambiguous X-linked transmission" "F" "" "France" "" "0" "" "" "French" "" "00362648" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with familial cases of RP segregating in males and females over at least two generations with no male to male transmission" "F" "" "France" "" "0" "" "" "French" "" "00362649" "" "" "" "1" "" "00008" "{PMID:Pelletier 2007:16969763}" "1 family with male sporadic case" "M" "" "France" "" "0" "" "" "French" "" "00362937" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ADRP276" "00362938" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "RCD291" "00363188" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00363356" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM860" "00363357" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM697" "00363358" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM877" "00363380" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM566" "00363381" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM485" "00363398" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM370" "00363399" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM825" "00363470" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "9C+Y.10" "00363471" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "U2C+J.77" "00363472" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "UNM+T.54" "00372064" "" "" "" "1" "" "00000" "{PMID:Almoguera 2015:26197217}" "family" "" "" "Spain" "" "0" "" "" "" "RP-0858" "00372508" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "100" "00372626" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP295" "00372678" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP367" "00372679" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP122" "00372680" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP044" "00372681" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP292" "00372682" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP231" "00372683" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP396" "00372684" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP263" "00372741" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP271" "00373357" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00373359" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00373417" "" "" "" "9" "" "00000" "{PMID:Maria 2015:25775262}" "5-generation family, 9 affected (3F, 6M), 3 affected females (1 homozygous, 1 heterozygous)" "" "yes" "Pakistan" "" "0" "" "" "" "Fam13" "00373472" "" "" "" "3" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 3 affected" "" "" "Spain" "" "0" "" "" "" "RP0631" "00373519" "" "" "" "2" "" "00000" "{PMID:Gonzalez-del Pozo 2014:25544989}" "4-generation family, 2 affected brothers" "M" "" "Spain" "" "0" "" "" "" "RP15PatIII2" "00373520" "" "" "00373519" "1" "" "00000" "{PMID:Gonzalez-del Pozo 2014:25544989}" "brother" "M" "" "Spain" "" "0" "" "" "" "RP15PatIII5" "00373804" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Spain" "" "0" "" "" "" "Pat1" "00373863" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp296" "00373874" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-035-090" "00373908" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-051-126" "00373909" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-134-315" "00373939" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-319-764" "00373946" "" "" "" "1" "" "00000" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Italy" "" "0" "" "" "" "P35 [F5]" "00373947" "" "" "" "1" "" "00000" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Italy" "" "0" "" "" "" "P36 [F6]" "00373948" "" "" "" "1" "" "00000" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Italy" "" "0" "" "" "" "P39 [F11]" "00373951" "" "" "" "1" "" "00000" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Italy" "" "0" "" "" "" "P38 [F4]" "00374894" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W10-1" "00374915" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "F25-1" "00374934" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W89-1" "00374986" "" "" "" "1" "" "00006" "{PMID:Duncker 2015:25283059}" "" "M" "" "United States" "" "0" "" "" "black" "Pat28" "00375315" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6101" "00375316" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6170" "00375317" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6222" "00375318" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6292" "00375343" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K1881" "00375417" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#009" "00376188" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "M" "" "Japan" "" "0" "" "" "" "" "00376246" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376247" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376248" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376249" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376250" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376251" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376252" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376253" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376254" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376255" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376256" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376257" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376258" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376259" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376260" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376261" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376262" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376263" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376264" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376265" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376266" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376267" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376268" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2009:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376269" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376270" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376271" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376272" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376273" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376274" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376275" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland / show in this patient an additional deletion was identified previously (Roepman et al., 1996)" "" "" "" "" "0" "" "" "" "" "00376276" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376277" "" "" "" "1" "" "00000" "{PMID:Neidhardt 2008:18552978}" "Geographic origin either Germany, Netherlands, Denmark or Switzerland" "" "" "" "" "0" "" "" "" "" "00376290" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" "" "00376291" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" "" "00376292" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" "" "00376296" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" "" "00376688" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376689" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376690" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376691" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376692" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376693" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376694" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376695" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376696" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376697" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376698" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376699" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376700" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376701" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376702" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376703" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376704" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376705" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376706" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376707" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376708" "" "" "" "1" "" "00000" "{PMID:Prokisch 2007:17724181}" "" "" "" "Denmark" "" "0" "" "" "Danish" "" "00376733" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "M" "" "" "" "0" "" "" "" "" "00376734" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "M" "" "" "" "0" "" "" "" "" "00376736" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "M" "" "" "" "0" "" "" "" "" "00376737" "" "" "" "1" "" "00000" "{PMID:Robson 2008:17962389}" "" "M" "" "" "" "0" "" "" "" "" "00376748" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "51" "00376769" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "33" "00376776" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "40" "00376785" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "52" "00376786" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "53" "00376812" "" "" "" "1" "" "00000" "{PMID:Daiger 2014:24664689}" "" "" "" "United States" "" "0" "" "" "" "VCH017" "00376813" "" "" "" "1" "" "00000" "{PMID:Daiger 2014:24664689}" "" "" "" "United States" "" "0" "" "" "" "VCH018" "00376819" "" "" "" "1" "" "00000" "{PMID:Daiger 2014:24664689}" "" "" "" "United States" "" "0" "" "" "" "RFS191" "00376820" "" "" "" "1" "" "00000" "{PMID:Daiger 2014:24664689}" "" "" "" "United States" "" "0" "" "" "" "RFS296" "00376987" "" "" "" "1" "" "00000" "{PMID:Ji-2010:20021257}" "" "M" "" "United States" "" "0" "" "" "Chinese" "" "00376988" "" "" "" "1" "" "00000" "{PMID:Ji-2010:20021257}" "" "M" "" "United States" "" "0" "" "" "Chinese" "" "00376989" "" "" "" "1" "" "00000" "{PMID:Ji-2010:20021257}" "" "M" "" "United States" "" "0" "" "" "Chinese" "" "00376990" "" "" "" "1" "" "00000" "{PMID:Ji-2010:20021257}" "" "M" "" "United States" "" "0" "" "" "Chinese" "" "00377171" "" "" "" "6" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "241" "00377172" "" "" "00377171" "1" "" "00000" "Tracewska 2021, MolVis in press" "mother\'s sister\'s daughter\'s son" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "507" "00377173" "" "" "00377171" "1" "" "00000" "Tracewska 2021, MolVis in press" "brother" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "511" "00377174" "" "" "00377171" "1" "" "00000" "Tracewska 2021, MolVis in press" "father\'s sister\'s son" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "512" "00377175" "" "" "00377171" "1" "" "00000" "Tracewska 2021, MolVis in press" "father\'s sister\'s2 son" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "513" "00377176" "" "" "00377171" "1" "" "00000" "Tracewska 2021, MolVis in press" "father\'s sister\'s3 son" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "514" "00377219" "" "" "" "3" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "320" "00377220" "" "" "00377219" "1" "" "00000" "Tracewska 2021, MolVis in press" "mother" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "319" "00377221" "" "" "00377219" "1" "" "00000" "Tracewska 2021, MolVis in press" "mother\'s sister" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "568" "00377229" "" "" "" "3" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "337" "00377230" "" "" "00377229" "1" "" "00000" "Tracewska 2021, MolVis in press" "brother" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "666" "00377231" "" "" "00377229" "1" "" "00000" "Tracewska 2021, MolVis in press" "twin brother of 337; Lab ID: 667; family ID: F17-099" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "667" "00377235" "" "" "" "4" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "342" "00377236" "" "" "00377235" "1" "" "00000" "Tracewska 2021, MolVis in press" "mother\'s sister\'s son" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "868" "00377237" "" "" "00377235" "1" "" "00000" "Tracewska 2021, MolVis in press" "mother\'s sister\'s son" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "869" "00377238" "" "" "00377235" "1" "" "00000" "Tracewska 2021, MolVis in press" "mother\'s sister\'s son" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "872" "00377251" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "360" "00377253" "" "" "" "3" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "366" "00377254" "" "" "00377253" "1" "" "00000" "Tracewska 2021, MolVis in press" "daughter1" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "671" "00377255" "" "" "00377253" "1" "" "00000" "Tracewska 2021, MolVis in press" "daughter2" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "672" "00377493" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-0858" "00377494" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-2683" "00377495" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-0615" "00377496" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-2646" "00377520" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE50" "M" "no" "Japan" "" "0" "" "" "Asian" "EYE50" "00377723" "" "" "" "1" "" "00000" "{PMID:Bowne 2011:20861475}" "" "" "no" "" "" "0" "" "" "white" "" "00377724" "" "" "" "1" "" "00000" "{PMID:Bowne 2011:20861475}" "" "" "no" "" "" "0" "" "" "white" "" "00377951" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "" "" "" "" "" "0" "" "" "" "" "00378007" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00378008" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" "" "00378026" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0011" "00378034" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0021" "00379344" "" "" "" "5" "" "00000" "{PMID:Chakarova-2006:16917484}" "six-generation family" "M" "" "Bulgaria" "" "0" "" "" "Romani (Gypsy)" "" "00379345" "" "" "" "1" "" "00000" "{PMID:Chakarova-2006:16917484}" "six-generation family" "F" "" "Bulgaria" "" "0" "" "" "Romani (Gypsy)" "" "00379346" "" "" "" "3" "" "00000" "{PMID:Chakarova-2006:16917484}" "six-generation family" "F" "" "Bulgaria" "" "0" "" "" "Romani (Gypsy)" "" "00379468" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379469" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379470" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379471" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "M" "" "China" "" "0" "" "" "" "" "00379472" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379473" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379474" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "M" "" "China" "" "0" "" "" "" "" "00379475" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "M" "" "China" "" "0" "" "" "" "" "00379476" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379477" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379529" "" "" "" "1" "" "00000" "{PMID:Foote-2019:10480356}" "" "M" "" "United States" "" "0" "" "" "" "" "00379532" "" "" "" "1" "" "00000" "{PMID:Foote-2019:10480356}" "" "M" "" "United States" "" "0" "" "" "" "" "00379539" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SS_0062" "00379558" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379571" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379575" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379637" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0017" "00379677" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0068" "00379685" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0077" "00379702" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0015" "00379703" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0016" "00379881" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016041902" "00379882" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016060105" "00379883" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016060106" "00379884" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016071202" "00379885" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016082412" "00379886" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016082901" "00379887" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016090709" "00379888" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016092104" "00379889" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016111404" "00379890" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016111404" "00379891" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016111411" "00379892" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016112118" "00379893" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016121918" "00379894" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2017010920" "00380152" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0192" "00380161" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_BDC_0008" "00380197" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP27, II:1" "?" "no" "Spain" "" "0" "" "" "" "II:1" "00380198" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP27, II:2" "?" "no" "Spain" "" "0" "" "" "" "II:2" "00380199" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP27, II:3" "?" "no" "Spain" "" "0" "" "" "" "II:3" "00380837" "" "" "" "1" "" "00000" "{PMID:Ivanova 2018:30358468}" "" "M" "" "Russian Federation" "" "0" "" "" "Slavonian" "Pat17" "00380947" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380948" "" "" "" "2" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380949" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380950" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380951" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380952" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380953" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380954" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380955" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380956" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380957" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380958" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380959" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380960" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380961" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380962" "" "" "" "4" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380963" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380964" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380965" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380966" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380967" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380968" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380969" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380970" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380971" "" "" "" "1" "" "00000" "{PMID:Branham-2012:23150612}" "" "M" "" "" "" "0" "" "" "" "" "00380972" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380975" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380976" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380977" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380978" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380979" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380980" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380981" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380982" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380983" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380984" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380985" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380986" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "M" "" "United States" "" "0" "" "" "" "" "00380987" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380988" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380989" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380990" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380991" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00380992" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "F" "" "United States" "" "0" "" "" "" "" "00380993" "" "" "" "1" "" "00000" "{PMID:Churchill-2013:23372056}" "" "" "" "United States" "" "0" "" "" "" "" "00381020" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23462753}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381237" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "patient carry novel LOF mutation in other retinal disease genes." "" "no" "" "" "0" "" "" "" "" "00381651" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" "" "00381666" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Saudi Arabia" "" "0" "" "" "" "" "00381696" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381707" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381709" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381782" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381783" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381784" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381785" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381786" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381787" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381788" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381917" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "67" "00381918" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "68" "00381919" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "69" "00381920" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "70" "00381921" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "71" "00381922" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "72" "00381923" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "73" "00381924" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "74" "00381925" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "75" "00381926" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "76" "00381927" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "77" "00381928" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "78" "00382224" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "53" "00382424" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "253" "00382425" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "254" "00382426" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "255" "00382427" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "256" "00382428" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "257" "00382429" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "258" "00382430" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "259" "00382431" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "260" "00382432" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "261" "00382433" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "262" "00382434" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "263" "00382435" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "264" "00382436" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "265" "00382437" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "266" "00382438" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "267" "00382476" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "305" "00382601" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "464" "00382653" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "U (II:3)" "00382797" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "F" "" "" "" "0" "" "" "" "" "00383826" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00383827" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00383828" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00383829" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00384259" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13229" "00384319" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13657" "00384345" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13808" "00384425" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14439" "00384473" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14749" "00384508" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "19872" "00384626" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "F" "yes" "Israel" "" "0" "" "" "" "Family 4 patient 1" "00385026" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19411" "00385046" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19776" "00385048" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" 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"" "" "" "0" "" "" "" "001-010" "00386544" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-027" "00386550" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-104" "00386552" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-115" "00386555" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-139" "00386590" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "004-263" "00386591" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "004-309" "00386597" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "039-410" "00386598" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "039-433" "00386607" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "099-083" "00386625" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-1040" "00386637" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-165" "00386650" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-199" "00386659" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-245" "00386787" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2941_004526" "00386802" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2959_004544" "00386818" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI610_001250" "00386822" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI618_001268" "00386833" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI641_001310" "00386834" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI645_001316" "00386849" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI711_001420" "00387132" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Other" "158" "00387133" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "159" "00387134" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "160" "00387135" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "161" "00387136" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Hispanic" "162" "00387137" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "163" "00387138" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Hispanic" "164" "00387139" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Other" "165" "00387140" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "166" "00387141" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "167" "00387142" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "Hispanic" "168" "00387403" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "M" "" "China" "" "0" "" "" "" "23" "00387623" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "8" "00387632" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "17" "00387670" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "58" "00387671" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "59" "00387672" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "60" "00388564" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.029" "00388721" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 3, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "5" "00388764" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 26, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "48" "00388819" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 48, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "103" "00388820" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 48, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "104" "00388821" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 48, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "105" "00388828" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 50, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "112" "00388876" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 65, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "160" "00388877" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 65, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "161" "00388878" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 65, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "162" "00388918" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 73, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "202" "00388968" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 85, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "252" "00388971" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 86, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "255" "00388987" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 91, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "271" "00388996" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 92, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "280" "00388997" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 92, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "281" "00389007" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 95, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "291" "00389008" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 95, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "292" "00389012" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 98, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "296" "00389015" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 99, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "299" "00389019" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 101, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "303" "00389025" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 103, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "309" "00389030" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 104, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "314" "00389031" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 104, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "315" "00389032" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 104, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "316" "00389033" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 104, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "317" "00389039" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 105, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "323" "00389040" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 105, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "324" "00389046" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 109, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "330" "00389047" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 109, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "331" "00389050" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 110, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "334" "00389053" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 111, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "337" "00389055" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 112, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "339" "00389063" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 117, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "347" "00389064" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 117, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "348" "00389068" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 118, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "352" "00389073" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 119, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "357" "00389074" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 119, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "358" "00389078" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 121, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "362" "00389082" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 122, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "366" "00389089" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 124, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "373" "00389100" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 127, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "384" "00389110" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 129, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "394" "00389111" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 129, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "395" "00389112" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 129, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "396" "00389113" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 129, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "397" "00389119" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 130, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "403" "00389122" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 131, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "406" "00389126" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 132, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "410" "00389130" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 133, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "414" "00389131" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 134, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "415" "00389132" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 134, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "416" "00389140" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 136, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "424" "00389141" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 136, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "425" "00389146" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 137, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "430" "00389149" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 138, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "433" "00389150" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 139, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "434" "00389156" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 140, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "440" "00389158" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 141, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "442" "00389159" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 142, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "443" "00389161" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 143, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "445" "00389162" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 144, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "446" "00389163" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 145, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "447" "00389166" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 146, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "450" "00389167" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 146, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "451" "00389170" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 147, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "454" "00389171" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 147, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "455" "00389174" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 148, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "458" "00389175" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 148, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "459" "00389176" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 148, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "460" "00389182" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 149, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "466" "00389183" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 149, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "467" "00389186" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 151, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "470" "00389187" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 151, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "471" "00389189" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 153, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "473" "00389191" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 154, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "475" "00389200" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 159, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "484" "00389203" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 160, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "487" "00389204" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 161, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "488" "00389209" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 163, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "493" "00389215" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 164, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "499" "00389219" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 165, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "503" "00389220" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 165, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "504" "00389221" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 166, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "505" "00389222" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 166, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "506" "00389223" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 166, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "507" "00389224" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 166, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "508" "00389225" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 166, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "509" "00389226" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 167, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "510" "00389227" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 168, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "511" "00389228" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 169, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "512" "00389230" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 170, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "514" "00389232" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 171, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "516" "00389234" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 173, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "518" "00389237" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 174, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "521" "00389239" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 175, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "523" "00389240" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 175, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "524" "00389241" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 176, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "525" "00389242" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 177, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "526" "00389243" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 178, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "527" "00389245" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 179, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "529" "00389253" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 185, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "537" "00389254" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 186, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "538" "00389262" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 193, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "546" "00389267" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 197, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "551" "00389277" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 200, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "561" "00389281" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 202, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "565" "00389284" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 204, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "568" "00389286" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 205, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "570" "00389287" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 206, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "571" "00389289" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 207, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "573" "00389293" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 208, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "577" "00389295" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 209, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "579" "00389299" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 210, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "583" "00389308" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 213, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "592" "00389310" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 214, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "594" "00389318" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 217, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "602" "00389321" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 218, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "605" "00389326" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 219, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "610" "00389329" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 220, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "613" "00389332" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 221, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "616" "00389337" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 222, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "621" "00389342" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 223, X-linked retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "626" "00390392" "" "" "" "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" "" "" "" "G000996" "00390393" "" "" "" "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" "" "" "" "G005204" "00390394" "" "" "" "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" "" "" "" "G005229" "00390395" "" "" "" "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" "" "" "" "G006300" "00390396" "" "" "" "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" "" "" "" "G008163" "00390397" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008990" "00390398" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000120" "00390399" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000194" "00390812" "" "" "" "1" "" "00000" "{PMID:Khateb-2016:27208209}" "" "" "" "" "" "0" "" "" "Ashkenazi/Jewish" "" "00390813" "" "" "" "1" "" "00000" "{PMID:Khateb-2016:27208209}" "" "" "" "" "" "0" "" "" "Ashkenazi/Jewish" "" "00390851" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390895" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390896" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390905" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390914" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00391209" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "171" "00391210" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "172" "00391211" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "173" "00391226" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "N-122" "00391234" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "N-225" "00391236" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "N-233" "00391242" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "N-298" "00391266" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "OPH-39" "00391282" "" "" "" "1" "" "00000" "{PMID:Koyanagi 2020:32749464}" "" "M" "" "Japan" "" "0" "" "" "" "OPH-783" "00391537" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "34" "00391538" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "35" "00391539" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "36" "00391540" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "37" "00391541" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "Maori" "38" "00391542" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "39" "00392134" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-142, proband\'s maternal grandmother" "F" "" "Spain" "" "0" "" "" "" "RPN-300" "00392135" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-142, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-301" "00392136" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-142, son of mother\'s sister" "M" "" "Spain" "" "0" "" "" "" "RPN-302" "00392159" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-142, proband\'s maternal grandmother" "F" "" "Spain" "" "0" "" "" "" "RPN-300" "00392160" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-142, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-301" "00392161" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-142, son of mother\'s sister" "M" "" "Spain" "" "0" "" "" "" "RPN-302" "00392332" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "191318" "00392379" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19724" "00392380" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "19753" "00392385" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "19845" "00392631" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "107" "00392632" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "111" "00393387" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-037" "00393388" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-044" "00393389" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-072" "00393390" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-078" "00393391" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-101" "00393392" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-119" "00393441" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393446" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393451" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393472" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393509" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393511" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393512" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393519" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393524" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393532" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393541" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393548" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393550" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393573" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393588" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393619" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393635" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393654" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393657" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393661" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393710" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393722" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393728" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393740" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393746" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393749" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393752" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393760" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393761" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393770" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393772" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393786" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393789" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393821" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393841" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393876" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393882" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393884" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393885" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00394768" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394769" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394770" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394771" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394772" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394773" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394774" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394775" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394776" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394777" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394778" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394779" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394780" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394781" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394782" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394783" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394784" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394785" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394786" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00395613" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3047" "00395855" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F022" "00395869" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F068" "00395870" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F224" "00395898" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F139" "00395899" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F288" "00395910" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F021" "00395935" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F168" "00395943" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F190" "00395956" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 1737, genetic ID: 21404" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P2" "00395957" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 5345, genetic ID: 31560" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P3" "00395958" "" "" "" "1" "" "00000" "{PMID:Georgiou 2021:32795431}" "pedigree ID: 4297, genetic ID: 26063" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "P4" "00396425" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "070553" "00396488" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "21" "00396525" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396526" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396529" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396532" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396576" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396628" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396648" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00397589" "" "" "" "1" "" "00000" "{PMID:Cideciyan 2007:17554762}" "" "M" "" "(United States)" "" "0" "" "" "" "P10" "00397590" "" "" "" "1" "" "00000" "{PMID:Cideciyan 2007:17554762}" "" "M" "" "(United States)" "" "0" "" "" "" "P11" "00403260" "" "" "" "1" "" "00000" "{PMID:Men-2017:29062221}" "" "M" "" "(United States)" "" "0" "" "" "" "Patient 1" "00404191" "" "" "" "4" "" "00000" "{PMID:Wutz 2002:12111638}, {PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "T9;Pat15" "00408335" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P10" "00408336" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P11" "00408337" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P12" "00408338" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P13" "00408339" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P14" "00408340" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P15" "00408341" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P16" "00408342" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P17" "00408343" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P18" "00408344" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P19" "00408345" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P20" "00408346" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P21" "00408347" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P22" "00408348" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "sibling of P24" "M" "" "United States" "" "0" "" "" "" "P23" "00408349" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "sibling of P23" "M" "" "United States" "" "0" "" "" "" "P24" "00408350" "" "" "" "1" "" "00000" "{PMID:Jacobson 2014:25074776}" "" "M" "" "United States" "" "0" "" "" "" "P25" "00408417" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "10" "00408418" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "Family 11, invidivual a" "?" "" "Finland" "" "0" "" "" "" "11a" "00408419" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "Family 11, invidivual b" "?" "" "Finland" "" "0" "" "" "" "11b" "00408423" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "15" "00413265" "" "" "" "1" "" "00000" "{PMID:Downes 2001:11146732};{PMID:Mahroo 2019:31804667}" "Family C, proband; re-evaluated in {PMID:Mahroo 2019:31804667} due to his daughter\'s phenotype matching the X-linked dominant inheritance" "M" "" "" "" "0" "" "" "" "C III/2" "00413266" "" "" "" "1" "" "00000" "{PMID:Downes 2001:11146732};{PMID:Mahroo 2019:31804667}" "Family C" "F" "" "" "" "0" "" "" "" "C III/10 (IV/3)" "00414306" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 1, Patient 1" "M" "no" "Japan" "" "0" "" "" "" "Patient 1" "00414307" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 2, Patient 2" "M" "no" "Japan" "" "0" "" "" "" "Patient 2" "00414308" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 3, Patient 3" "M" "no" "Japan" "" "0" "" "" "" "Patient 3" "00414309" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 4, Patient 4" "M" "no" "Japan" "" "0" "" "" "" "Patient 4" "00414310" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 5, Patient 5" "M" "no" "Japan" "" "0" "" "" "" "Patient 5" "00414311" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 6, Patient 6" "M" "no" "Japan" "" "0" "" "" "" "Patient 6" "00414312" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 7, Patient 7" "M" "no" "Japan" "" "0" "" "" "" "Patient 7" "00414319" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 1, Carrier 1" "F" "no" "Japan" "" "0" "" "" "" "Carrier 1" "00414320" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 1, Carrier 2" "F" "no" "Japan" "" "0" "" "" "" "Carrier 2" "00414321" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 2, Carrier 3" "F" "no" "Japan" "" "0" "" "" "" "Carrier 3" "00414322" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 3, Carrier 4" "F" "no" "Japan" "" "0" "" "" "" "Carrier 4" "00414323" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 4, Carrier 5" "F" "no" "Japan" "" "0" "" "" "" "Carrier 5" "00414324" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 5, Carrier 6" "F" "no" "Japan" "" "0" "" "" "" "Carrier 6" "00414325" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 6, Carrier 7" "F" "no" "Japan" "" "0" "" "" "" "Carrier 7" "00414326" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 6, Carrier 8" "F" "no" "Japan" "" "0" "" "" "" "Carrier 8" "00414327" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 6, Carrier 9" "F" "no" "Japan" "" "0" "" "" "" "Carrier 9" "00414328" "" "" "" "1" "" "00000" "{PMID:Kurata 2019:30917587}" "Family 7, Carrier 10" "F" "no" "Japan" "" "0" "" "" "" "Carrier 10" "00417575" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00419224" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "1" "00419225" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "2" "00419226" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "3" "00419227" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "4" "00419228" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "5" "00419229" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "6" "00419230" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "7" "00419231" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "8" "00419232" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "9" "00419233" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "10" "00419234" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "11" "00419235" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "12" "00419236" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "13" "00419237" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "14" "00419238" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "15" "00419239" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "16" "00419240" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "17" "00419241" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "18" "00419242" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "19" "00419243" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "20" "00419244" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "21" "00419245" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "22" "00419246" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "23" "00419247" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "24" "00419248" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "25" "00419249" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "26" "00419250" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "27" "00419251" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "28" "00419252" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "29" "00419253" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "30" "00419254" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "31" "00419255" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "32" "00419256" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "33" "00419257" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "34" "00419258" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "35" "00419259" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "36" "00419260" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "37" "00419261" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "38" "00419262" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "39" "00419263" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "40" "00419264" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "41" "00419265" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "42" "00419266" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "43" "00419267" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "44" "00419268" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "45" "00419269" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "46" "00419270" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "47" "00419271" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "48" "00419272" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "49" "00419273" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "50" "00419274" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "51" "00419275" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "52" "00419276" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "53" "00419277" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "54" "00419278" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "55" "00419279" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "56" "00419280" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "57" "00419281" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "58" "00419282" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "59" "00419283" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "60" "00419284" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "61" "00419285" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "62" "00419286" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "63" "00419287" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "64" "00419288" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "65" "00419289" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "66" "00419290" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "67" "00419291" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "68" "00419292" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "69" "00419293" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "70" "00419294" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "71" "00419295" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "72" "00419296" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "73" "00419297" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "74" "00419298" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "75" "00419299" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "76" "00419300" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "77" "00419301" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "78" "00419302" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "79" "00419303" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "80" "00419304" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "81" "00419305" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "82" "00419306" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "83" "00419307" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "84" "00419308" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "85" "00419309" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "86" "00419310" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "87" "00419311" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "88" "00419312" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "89" "00419313" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "90" "00419314" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "91" "00419315" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "92" "00419316" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "93" "00419317" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "94" "00419318" "" "" "" "1" "" "00000" "{PMID:Fahim 2011:21857984}" "no patient numbering, consecutive numbers given" "M" "" "" "" "0" "" "" "" "95" "00419322" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "1" "00419323" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "2" "00419324" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "3" "00419325" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "4" "00419326" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "5" "00419327" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "6" "00419328" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "7" "00419329" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "8" "00419330" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "9" "00419331" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "10" "00419332" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "11" "00419333" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "12" "00419334" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "13" "00419335" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "14" "00419336" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "15" "00419337" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "16" "00419338" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "17" "00419339" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "18" "00419340" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "19" "00419341" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "20" "00419342" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "21" "00419343" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "22" "00419344" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "23" "00419345" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "24" "00419346" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "25" "00419347" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "26" "00419348" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "27" "00419349" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "28" "00419350" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "29" "00419351" "" "" "" "1" "" "00000" "{PMID:Talib 2018:30105367}" "no patient numbering, consecutive numbers given" "F" "" "" "" "0" "" "" "" "30" "00419352" "" "" "" "1" "" "00000" "{PMID:Talib 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"00390896" "04214" "00390905" "04214" "00390914" "04214" "00391209" "04214" "00391210" "04214" "00391211" "04214" "00391226" "04214" "00391234" "04214" "00391236" "04214" "00391242" "04214" "00391266" "04214" "00391282" "04214" "00391537" "04214" "00391538" "04214" "00391539" "04214" "00391540" "04214" "00391541" "04214" "00391542" "04214" "00392134" "04214" "00392135" "04214" "00392136" "04214" "00392159" "04214" "00392160" "04214" "00392161" "04214" "00392332" "04214" "00392379" "04214" "00392380" "04214" "00392385" "04214" "00392631" "04214" "00392632" "04214" "00393387" "04214" "00393388" "04214" "00393389" "04214" "00393390" "04214" "00393391" "04214" "00393392" "04214" "00393441" "04214" "00393446" "04214" "00393451" "04214" "00393472" "04214" "00393509" "04214" "00393511" "04214" "00393512" "04214" "00393519" "04214" "00393524" "04214" "00393532" "04214" "00393541" "04214" "00393548" "04214" "00393550" "04214" "00393573" "04214" "00393588" "04214" "00393619" "04214" "00393635" "04214" "00393654" "04214" "00393657" "04214" "00393661" "04214" "00393710" "04214" "00393722" "04214" "00393728" "04214" "00393740" "04214" "00393746" "04214" "00393749" "04214" "00393752" "04214" "00393760" "04214" "00393761" "04214" "00393770" "04214" "00393772" "04214" "00393786" "04214" "00393789" "04214" "00393821" "04214" "00393841" "04214" "00393876" "04214" "00393882" "04214" "00393884" "04214" "00393885" "04214" "00394768" "04214" "00394769" "04214" "00394770" "04214" "00394771" "04214" "00394772" "04214" "00394773" "04214" "00394774" "04214" "00394775" "04214" "00394776" "04214" "00394777" "04214" "00394778" "04214" "00394779" "04214" "00394780" "04214" "00394781" "04214" "00394782" "04214" "00394783" "04214" "00394784" "04214" "00394785" "04214" "00394786" "04214" "00395613" "04214" "00395855" "04214" "00395869" "04214" "00395870" "04214" "00395898" "04214" "00395899" "04214" "00395910" "04214" "00395935" "04214" "00395943" "04214" "00395956" "04214" "00395957" "04214" "00395958" "04214" "00396425" "04214" "00396488" "04214" "00396525" "04214" "00396526" "04214" "00396529" "04214" "00396532" "04214" "00396576" "04214" "00396628" "04214" "00396648" "04214" "00397589" "04214" "00397590" "04214" "00403260" "04214" "00404191" "04214" "00408335" "04214" "00408336" "04214" "00408337" "04214" "00408338" "04214" "00408339" "04214" "00408340" "04214" "00408341" "04214" "00408342" "04214" "00408343" "04214" "00408344" "04214" "00408345" "04214" "00408346" "04214" "00408347" "04214" "00408348" "04214" "00408349" "04214" "00408350" "04214" "00408417" "04214" "00408418" "04214" "00408419" "04214" "00408423" "04214" "00413265" "04214" "00413266" "04214" "00414306" "04214" "00414307" "04214" "00414308" "04214" "00414309" "04214" "00414310" "04214" "00414311" "04214" "00414312" "04214" "00414319" "04214" "00414320" "04214" "00414321" "04214" "00414322" "04214" "00414323" "04214" "00414324" "04214" "00414325" "04214" "00414326" "04214" "00414327" "04214" "00414328" "04214" "00417575" "02156" "00419224" "04214" "00419225" "04214" "00419226" "04214" "00419227" "04214" "00419228" "04214" "00419229" "04214" "00419230" "04214" "00419231" "04214" "00419232" "04214" "00419233" "04214" "00419234" "04214" "00419235" "04214" "00419236" "04214" "00419237" "04214" "00419238" "04214" "00419239" "04214" "00419240" "04214" "00419241" "04214" "00419242" "04214" "00419243" "04214" "00419244" "04214" "00419245" "04214" "00419246" "04214" "00419247" "04214" "00419248" "04214" "00419249" "04214" "00419250" "04214" "00419251" "04214" "00419252" "04214" "00419253" "04214" "00419254" "04214" "00419255" "04214" "00419256" "04214" "00419257" "04214" "00419258" "04214" "00419259" "04214" "00419260" "04214" "00419261" "04214" "00419262" "04214" "00419263" "04214" "00419264" "04214" "00419265" "04214" "00419266" "04214" "00419267" "04214" "00419268" "04214" "00419269" "04214" "00419270" "04214" "00419271" "04214" "00419272" "04214" "00419273" "04214" "00419274" "04214" "00419275" "04214" "00419276" "04214" "00419277" "04214" "00419278" "04214" "00419279" "04214" "00419280" "04214" "00419281" "04214" "00419282" "04214" "00419283" "04214" "00419284" "04214" "00419285" "04214" "00419286" "04214" "00419287" "04214" "00419288" "04214" "00419289" "04214" "00419290" "04214" "00419291" "04214" "00419292" "04214" "00419293" "04214" "00419294" "04214" "00419295" "04214" "00419296" "04214" "00419297" "04214" "00419298" "04214" "00419299" "04214" "00419300" "04214" "00419301" "04214" "00419302" "04214" "00419303" "04214" "00419304" "04214" "00419305" "04214" "00419306" "04214" "00419307" "04214" "00419308" "04214" "00419309" "04214" "00419310" "04214" "00419311" "04214" "00419312" "04214" "00419313" "04214" "00419314" "04214" "00419315" "04214" "00419316" "04214" "00419317" "04214" "00419318" "04214" "00419322" "04214" "00419323" "04214" "00419324" "04214" "00419325" "04214" "00419326" "04214" "00419327" "04214" "00419328" "04214" "00419329" "04214" "00419330" "04214" "00419331" "04214" "00419332" "04214" "00419333" "04214" "00419334" "04214" "00419335" "04214" "00419336" "04214" "00419337" "04214" "00419338" "04214" "00419339" "04214" "00419340" "04214" "00419341" "04214" "00419342" "04214" "00419343" "04214" "00419344" "04214" "00419345" "04214" "00419346" "04214" "00419347" "04214" "00419348" "04214" "00419349" "04214" "00419350" "04214" "00419351" "04214" "00419352" "04214" "00419353" "04214" "00419354" "04214" "00419355" "04214" "00419356" "04214" "00419357" "04214" "00419358" "04214" "00419359" "04214" "00419360" "04214" "00419361" "04214" "00419362" "04214" "00419363" "04214" "00419364" "04214" "00419365" "04214" "00419366" "04214" "00419367" "04214" "00419368" "04214" "00419369" "04214" "00419370" "04214" "00419371" "04214" "00419372" "04214" "00419373" "04214" "00419374" "04214" "00419375" "04214" "00419376" "04214" "00419377" "04214" "00419378" "04214" "00419379" "04214" "00419380" "04214" "00419381" "04214" "00419382" "04214" "00419383" "04214" "00419384" "04214" "00419385" "04214" "00419386" "04214" "00419387" "04214" "00419388" "04214" "00419389" "04214" "00419390" "04214" "00419391" "04214" "00419392" "04214" "00419393" "04214" "00419394" "04214" "00419395" "04214" "00419396" "04214" "00419397" "04214" "00419398" "04214" "00419399" "04214" "00419400" "04214" "00419401" "04214" "00419402" "04214" "00419403" "04214" "00419404" "04214" "00419405" "04214" "00419406" "04214" "00419407" "04214" "00419408" "04214" "00419409" "04214" "00419410" "04214" "00419411" "04214" "00419412" "04214" "00419413" "04214" "00419414" "04214" "00419415" "04214" "00419416" "04214" "00419417" "04214" "00419418" "04214" "00419419" "04214" "00419420" "04214" "00419421" "04214" "00419422" "04214" "00419423" "04214" "00419424" "04214" "00419425" "04214" "00419426" "04214" "00419427" "04214" "00419428" "04214" "00419429" "04214" "00419430" "04214" "00419431" "04214" "00419432" "04214" "00419433" "04214" "00419434" "04214" "00419435" "04214" "00419436" "04214" "00419437" "04214" "00419438" "04214" "00419439" "04214" "00419440" "04214" "00419441" "04214" "00419442" "04214" "00419443" "04214" "00419444" "04214" "00419445" "04214" "00419446" "04214" "00419447" "04214" "00419448" "04214" "00419449" "04214" "00419724" "04214" "00419725" "04214" "00419726" "04214" "00420405" "04214" "00420406" "04214" "00420435" "04214" "00420473" "04214" "00420489" "04214" "00420504" "04214" "00420531" "04214" "00420576" "04214" "00424127" "00112" "00426610" "04214" "00426933" "04214" "00426934" "04214" "00426935" "04214" "00426936" "04214" "00426941" "04214" "00429490" "00112" "00429506" "00112" "00429544" "00112" "00429568" "00112" "00429615" "00112" "00429622" "00112" "00429633" "00112" "00429634" "04214" "00429638" "00112" "00429671" "00112" "00429677" "00112" "00429784" "00112" "00429864" "00112" "00429890" "00112" "00429967" "00112" "00430009" "00112" "00430056" "00112" "00430070" "00112" "00430101" "00112" "00430109" "00112" "00430125" "00112" "00436459" "02156" "00436460" "02156" "00436461" "02156" "00436462" "02156" "00447003" "00198" "00447058" "00198" "00447061" "00198" "00447123" "00198" "00447126" "00198" "00447187" "00198" "00447292" "00198" "00447327" "00198" "00447447" "00198" "00447448" "00198" "00447449" "00198" "00447450" "00198" "00447451" "00198" "00447452" "00198" "00447454" "00198" "00447455" "00198" "00447457" "00198" "00447459" "00198" "00447460" "00198" "00447461" "00198" "00447462" "00198" "00447463" "00198" "00447465" "00198" "00447466" "00198" "00447467" "00198" "00447469" "00198" "00447472" "00198" "00447473" "00198" "00447474" "00198" "00447475" "00198" "00447476" "00198" "00447478" "00198" "00447479" "00198" "00447481" "00198" "00447486" "00198" "00447499" "00198" "00447504" "00198" "00447521" "00198" "00447645" "00198" "00451002" "04249" "00451003" "04249" "00451004" "04249" "00451005" "04249" "00451006" "04249" "00451007" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00028, 00112, 00187, 00198, 00381, 01157, 01371, 02048, 02138, 02156, 02188, 02228, 04214, 04215, 04249, 05415, 05426 ## Count = 1647 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000026246" "00187" "00032817" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026247" "00187" "00032818" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026248" "00187" "00032819" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026249" "00187" "00032820" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026250" "00187" "00032821" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026251" "00187" "00032822" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026252" "00187" "00032823" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026533" "04214" "00033104" "00229" "Unknown" "37y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026547" "04214" "00033118" "00229" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026549" "04214" "00033120" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026570" "04214" "00033141" "00229" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026577" "04214" "00033148" "00229" "Unknown" "45y" "Mantle cell lymphoma" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026584" "04214" "00033155" "00229" "Unknown" "34y" "subtle hearing loss, fibromyalgia" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000060973" "01371" "00081410" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082912" "04214" "00105019" "01244" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000138719" "04214" "00173866" "02449" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000179285" "00198" "00239000" "01807" "Unknown" "" "HP:0002322 (Resting tremor)" "" "" "" "" "" "" "" "" "" "" "" "" "0000210685" "04214" "00276090" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000223119" "00198" "00295554" "01164" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223168" "00198" "00295603" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "" "0000224254" "00198" "00296857" "01164" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "" "0000227602" "04214" "00300293" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227603" "04214" "00300294" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227604" "04214" "00300295" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227605" "04214" "00300296" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227606" "04214" "00300297" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227607" "04214" "00300298" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227608" "04214" "00300299" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227609" "04214" "00300300" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227610" "04214" "00300301" "01848" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000233985" "04214" "00308557" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233986" "04214" "00308558" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233987" "04214" "00308559" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234704" "04214" "00309384" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234705" "04214" "00309385" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234706" "04214" "00309386" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234707" "04214" "00309387" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000234708" "04214" "00309388" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234709" "04214" "00309389" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" "" "0000234710" "04214" "00309390" "00004" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234711" "04214" "00309391" "00004" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234712" "04214" "00309392" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234713" "04214" "00309393" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234714" "04214" "00309394" "00004" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234715" "04214" "00309395" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234716" "04214" "00309396" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234717" "04214" "00309397" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234718" "04214" "00309398" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234719" "04214" "00309399" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234720" "04214" "00309400" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234721" "04214" "00309401" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234722" "04214" "00309402" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234723" "04214" "00309403" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234724" "04214" "00309404" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234725" "04214" "00309405" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234726" "04214" "00309406" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234727" "04214" "00309407" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000235068" "04214" "00309732" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000243949" "04214" "00325462" "00006" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000245501" "04214" "00327150" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245502" "04214" "00327151" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245503" "04214" "00327152" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245504" "04214" "00327153" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245505" "04214" "00327154" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245506" "04214" "00327155" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245507" "04214" "00327156" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245508" "04214" "00327157" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245509" "04214" "00327158" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245510" "04214" "00327159" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245511" "04214" "00327160" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245512" "04214" "00327161" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245513" "04214" "00327162" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245514" "04214" "00327163" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245515" "04214" "00327164" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245516" "04214" "00327165" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245517" "04214" "00327166" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245518" "04214" "00327167" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245519" "04214" "00327168" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245520" "04214" "00327169" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245521" "04214" "00327170" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245522" "04214" "00327171" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245523" "04214" "00327172" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245524" "04214" "00327173" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245525" "04214" "00327174" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245526" "04214" "00327175" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245527" "04214" "00327176" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245528" "04214" "00327177" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245529" "04214" "00327178" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245530" "04214" "00327191" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245531" "04214" "00327192" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245532" "04214" "00327193" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245533" "04214" "00327194" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245534" "04214" "00327195" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245535" "04214" "00327196" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245536" "04214" "00327197" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245537" "04214" "00327198" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245538" "04214" "00327199" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245539" "04214" "00327200" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245540" "04214" "00327215" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245541" "04214" "00327216" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245542" "04214" "00327217" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245543" "04214" "00327218" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245544" "04214" "00327219" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245545" "04214" "00327220" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245546" "04214" "00327221" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245547" "04214" "00327222" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245548" "04214" "00327223" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245549" "04214" "00327224" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245550" "04214" "00327225" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245551" "04214" "00327226" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245552" "04214" "00327227" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245553" "04214" "00327228" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245554" "04214" "00327229" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245555" "04214" "00327230" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245556" "04214" "00327231" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245557" "04214" "00327232" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245558" "04214" "00327233" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245559" "04214" "00327234" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245560" "04214" "00327235" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245561" "04214" "00327236" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245562" "04214" "00327237" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245563" "04214" "00327238" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245564" "04214" "00327239" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245565" "04214" "00327240" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245566" "04214" "00327241" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245567" "04214" "00327242" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245568" "04214" "00327243" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245569" "04214" "00327244" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245570" "04214" "00327245" "00006" "Familial, X-linked" "" "see paper; ..., cone dystrophy" "" "" "" "" "" "" "" "" "" "RP3" "cone dystrophy" "" "0000245571" "04214" "00327246" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245572" "04214" "00327247" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245573" "04214" "00327248" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245574" "04214" "00327259" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245575" "04214" "00327260" "00006" "Familial, X-linked" "" "see paper; ..., retinitis pigmentosa, impaired hearing, sinorespiratory infections" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245576" "04214" "00327261" "00006" "Familial, X-linked" "" "see paper; ..., primary ciliary dyskinesia, retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245577" "04214" "00327262" "00006" "Familial, X-linked" "" "see paper; ..., mild retinitis pigmentosa, night blindness since childhood, late thirties peripheral visual impairment" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245578" "04214" "00327263" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245579" "04214" "00327264" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245580" "04214" "00327265" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245581" "04214" "00327266" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245582" "04214" "00327267" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245583" "04214" "00327273" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245584" "04214" "00327274" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245585" "04214" "00327275" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245586" "04214" "00327276" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245587" "04214" "00327277" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245588" "04214" "00327278" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245589" "04214" "00327279" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245590" "04214" "00327280" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245591" "04214" "00327281" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245592" "04214" "00327282" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245593" "04214" "00327283" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245594" "04214" "00327284" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245595" "04214" "00327285" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245596" "04214" "00327286" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245597" "04214" "00327287" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245598" "04214" "00327288" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245599" "04214" "00327289" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245600" "04214" "00327290" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245601" "04214" "00327291" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245602" "04214" "00327292" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245603" "04214" "00327293" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245604" "04214" "00327294" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245605" "04214" "00327295" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245606" "04214" "00327296" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245607" "04214" "00327297" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245608" "04214" "00327298" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245609" "04214" "00327299" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245610" "04214" "00327300" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245611" "04214" "00327301" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245612" "04214" "00327302" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245613" "04214" "00327303" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245614" "04214" "00327304" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245615" "04214" "00327305" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245616" "04214" "00327306" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245617" "04214" "00327307" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245618" "04214" "00327308" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245619" "04214" "00327309" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245620" "04214" "00327310" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245621" "04214" "00327311" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245622" "04214" "00327312" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245623" "04214" "00327313" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245624" "04214" "00327314" "00006" "Familial, X-linked" "" "see paper; ..., retinitis pigmentosa, primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245625" "04214" "00327315" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245626" "04214" "00327320" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245627" "04214" "00327321" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245628" "04214" "00327322" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245629" "04214" "00327323" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245630" "04214" "00327324" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245631" "04214" "00327325" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245632" "04214" "00327326" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245633" "04214" "00327327" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245634" "04214" "00327328" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245635" "04214" "00327329" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245636" "04214" "00327330" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245637" "04214" "00327331" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245638" "04214" "00327332" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245639" "04214" "00327333" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245640" "04214" "00327334" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245641" "04214" "00327335" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245642" "04214" "00327336" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245643" "04214" "00327337" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245644" "04214" "00327338" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245645" "04214" "00327339" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245646" "04214" "00327340" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245647" "04214" "00327341" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245648" "04214" "00327342" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245649" "04214" "00327343" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245650" "04214" "00327344" "00006" "Familial, X-linked" "" "see paper; ..., ciliary dyskinesia, retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245651" "04214" "00327345" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245652" "00198" "00327346" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245653" "00198" "00327347" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245654" "00198" "00327348" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245655" "00198" "00327349" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245656" "00198" "00327350" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245657" "00198" "00327351" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245658" "00198" "00327352" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245659" "00198" "00327353" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245660" "00198" "00327354" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245661" "00198" "00327355" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245662" "00198" "00327356" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245663" "00198" "00327357" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245664" "00198" "00327358" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245665" "00198" "00327359" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245666" "00198" "00327360" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245667" "00198" "00327361" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245668" "00198" "00327362" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245669" "00198" "00327363" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245670" "00198" "00327364" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245671" "00198" "00327365" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245672" "04214" "00327366" "00006" "Familial, X-linked" "" "see paper; ..., male-pattern RPGR retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245673" "04214" "00327367" "00006" "Familial, X-linked" "" "see paper; ..., male-pattern RPGR retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245674" "04214" "00327368" "00006" "Familial, X-linked" "" "see paper; ..., male-pattern RPGR retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245675" "04214" "00327369" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245676" "04214" "00327370" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245677" "04214" "00327371" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245678" "04214" "00327372" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245679" "04214" "00327373" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245680" "04214" "00327374" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245681" "04214" "00327375" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245682" "04214" "00327376" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245683" "04214" "00327377" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245684" "04214" "00327378" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245685" "04214" "00327379" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000245755" "02048" "00327466" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000246136" "04214" "00327909" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246150" "04214" "00327923" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246154" "04214" "00327927" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246158" "04214" "00327931" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246175" "04214" "00327948" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246204" "04214" "00327977" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246328" "04214" "00328101" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000246338" "04214" "00328111" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246392" "04214" "00328165" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246464" "04214" "00328237" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246473" "04214" "00328246" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246500" "04214" "00328273" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246540" "04214" "00328313" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246590" "04214" "00328364" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246591" "04214" "00328365" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246592" "04214" "00328366" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246593" "04214" "00328367" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246594" "04214" "00328368" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246595" "04214" "00328369" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246596" "04214" "00328370" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" "" "0000246597" "04214" "00328371" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246598" "04214" "00328372" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246599" "04214" "00328373" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246710" "04214" "00328484" "00000" "Familial, X-linked" "12y" "cone-rod dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246711" "04214" "00328485" "00000" "Familial, X-linked" "16y" "cone-rod dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246781" "04214" "00328553" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246782" "04214" "00328554" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246783" "04214" "00328555" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246784" "04214" "00328556" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246785" "04214" "00328557" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246786" "04214" "00328558" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246787" "04214" "00328559" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246788" "04214" "00328560" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "atrophic macular degeneration" "" "0000246789" "04214" "00328561" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246790" "04214" "00328562" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246791" "04214" "00328563" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246792" "04214" "00328564" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246793" "04214" "00328565" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246794" "04214" "00328567" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246795" "04214" "00328568" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246796" "04214" "00328569" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246797" "04214" "00328570" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246798" "04214" "00328572" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246799" "04214" "00328573" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246800" "04214" "00328574" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246801" "04214" "00328575" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246802" "04214" "00328576" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246803" "04214" "00328577" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246804" "04214" "00328580" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246805" "04214" "00328581" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246806" "04214" "00328584" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246807" "04214" "00328586" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246808" "04214" "00328590" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246809" "04214" "00328592" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246810" "04214" "00328594" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246811" "04214" "00328595" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246812" "04214" "00328596" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246813" "04214" "00328597" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246814" "04214" "00328598" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246815" "04214" "00328599" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246816" "04214" "00328600" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246817" "04214" "00328601" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246818" "04214" "00328602" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246819" "04214" "00328603" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246820" "04214" "00328604" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246821" "04214" "00328605" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246822" "04214" "00328606" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246823" "04214" "00328607" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246824" "04214" "00328608" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246825" "04214" "00328609" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246826" "04214" "00328610" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246827" "04214" "00328611" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246828" "04214" "00328612" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246829" "04214" "00328613" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246830" "04214" "00328614" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246831" "04214" "00328615" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246832" "04214" "00328616" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246833" "04214" "00328617" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246834" "04214" "00328618" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246835" "04214" "00328619" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246836" "04214" "00328620" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246837" "04214" "00328621" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246838" "04214" "00328622" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246839" "04214" "00328623" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246840" "04214" "00328624" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246841" "04214" "00328625" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246842" "04214" "00328626" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246843" "04214" "00328627" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246844" "04214" "00328628" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246845" "04214" "00328629" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246846" "04214" "00328630" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246847" "04214" "00328631" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246848" "04214" "00328632" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246849" "04214" "00328633" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246850" "04214" "00328634" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246851" "04214" "00328635" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246852" "04214" "00328636" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246853" "04214" "00328637" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246854" "04214" "00328638" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246855" "04214" "00328639" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246856" "04214" "00328640" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246857" "04214" "00328641" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246858" "04214" "00328642" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246859" "04214" "00328643" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246860" "04214" "00328644" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246861" "04214" "00328645" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246862" "04214" "00328646" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246863" "04214" "00328647" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246864" "04214" "00328648" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246865" "04214" "00328649" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246866" "04214" "00328650" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246867" "04214" "00328651" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246868" "04214" "00328652" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246869" "04214" "00328653" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246870" "04214" "00328654" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246871" "04214" "00328655" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246872" "04214" "00328656" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246873" "04214" "00328657" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246874" "04214" "00328658" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246875" "04214" "00328659" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246876" "04214" "00328660" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246877" "04214" "00328661" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246878" "04214" "00328662" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246879" "04214" "00328663" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246880" "04214" "00328664" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246881" "04214" "00328665" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246882" "04214" "00328666" "00000" "Familial, X-linked" "" "see paper; ..., retinitis pigmentosa, Coats’-like exudative vasculopathy" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246883" "04214" "00328667" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246884" "04214" "00328668" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246885" "04214" "00328669" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246886" "04214" "00328670" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246887" "04214" "00328671" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246888" "04214" "00328672" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246889" "04214" "00328673" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246890" "04214" "00328674" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246891" "04214" "00328675" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246892" "04214" "00328676" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246893" "04214" "00328677" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246894" "04214" "00328678" "00000" "Familial, X-linked" "" "see paper; ..., retinitis pigmentosa, recurrent infections, hearing loss" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246895" "04214" "00328679" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246896" "04214" "00328680" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246897" "04214" "00328681" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246898" "04214" "00328682" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246899" "04214" "00328683" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246900" "04214" "00328684" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246901" "04214" "00328685" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246902" "04214" "00328686" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246903" "04214" "00328687" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246904" "04214" "00328688" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246905" "04214" "00328689" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246906" "04214" "00328690" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246907" "04214" "00328691" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246908" "04214" "00328692" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246909" "04214" "00328693" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246910" "04214" "00328694" "00000" "Familial, X-linked" "" "see paper; ..., retinitis pigmentosa, cone-rod degeneration" "" "" "" "" "" "" "" "" "" "" "cone-rod degeneration" "" "0000246911" "04214" "00328695" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246912" "04214" "00328696" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246913" "04214" "00328697" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246914" "04214" "00328698" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246915" "04214" "00328699" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246916" "04214" "00328700" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246917" "04214" "00328701" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246918" "04214" "00328702" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246919" "04214" "00328703" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246920" "04214" "00328704" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246921" "04214" "00328705" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246922" "04214" "00328706" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246923" "04214" "00328707" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246924" "04214" "00328708" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246925" "04214" "00328709" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246926" "04214" "00328710" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246927" "04214" "00328711" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000246928" "04214" "00328712" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246929" "04214" "00328713" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246930" "04214" "00328714" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "XLDRP" "" "0000246931" "04214" "00328715" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "XLDRP" "" "0000246932" "04214" "00328716" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "XLDRP" "" "0000246933" "04214" "00328717" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246934" "04214" "00328718" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "XLDRP" "" "0000246935" "04214" "00328719" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246936" "04214" "00328720" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "XLDRP" "" "0000246937" "04214" "00328721" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "XLDRP" "" "0000246938" "04214" "00328722" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "XLDRP" "" "0000246939" "04214" "00328723" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246940" "04214" "00328724" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246941" "04214" "00328725" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246942" "04214" "00328726" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246943" "04214" "00328727" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246944" "04214" "00328728" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246945" "04214" "00328729" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246946" "04214" "00328730" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246947" "04214" "00328731" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246948" "04214" "00328732" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246949" "04214" "00328733" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246950" "04214" "00328734" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246951" "04214" "00328735" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246952" "04214" "00328736" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246953" "04214" "00328737" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246954" "04214" "00328738" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246955" "04214" "00328739" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246956" "04214" "00328740" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246957" "04214" "00328741" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246958" "04214" "00328742" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246959" "04214" "00328743" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246960" "04214" "00328744" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246961" "04214" "00328745" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246962" "04214" "00328746" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246963" "04214" "00328747" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246964" "04214" "00328748" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246965" "04214" "00328749" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246966" "04214" "00328750" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246967" "04214" "00328751" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246968" "04214" "00328752" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246969" "04214" "00328753" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246970" "04214" "00328754" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246971" "04214" "00328755" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246972" "04214" "00328756" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246973" "04214" "00328757" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246974" "04214" "00328758" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246975" "04214" "00328759" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246976" "04214" "00328760" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246977" "04214" "00328761" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246978" "04214" "00328762" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246979" "04214" "00328763" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246980" "04214" "00328764" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246981" "04214" "00328765" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246982" "04214" "00328766" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246983" "04214" "00328767" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246984" "04214" "00328768" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246985" "04214" "00328769" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246986" "04214" "00328770" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246987" "04214" "00328771" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246988" "04214" "00328772" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246989" "04214" "00328773" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246990" "04214" "00328774" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246991" "04214" "00328775" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246992" "04214" "00328776" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246993" "04214" "00328777" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246994" "04214" "00328778" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246995" "04214" "00328779" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246996" "04214" "00328780" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246997" "04214" "00328781" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246998" "04214" "00328782" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246999" "04214" "00328783" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247000" "04214" "00328784" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247001" "04214" "00328785" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247002" "04214" "00328786" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247003" "04214" "00328787" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247004" "04214" "00328788" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247005" "04214" "00328789" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247006" "04214" "00328790" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247007" "04214" "00328791" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247008" "04214" "00328792" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247009" "04214" "00328793" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247010" "04214" "00328794" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247011" "04214" "00328795" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247012" "04214" "00328796" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247013" "04214" "00328797" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247014" "04214" "00328798" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247015" "04214" "00328799" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247016" "04214" "00328800" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247017" "04214" "00328801" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247018" "04214" "00328802" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000247019" "04214" "00328803" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000247020" "04214" "00328804" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247021" "04214" "00328805" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000247022" "04214" "00328806" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249466" "04214" "00331272" "00000" "Familial, X-linked" "47y" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000249467" "04214" "00331273" "00000" "Familial, X-linked" "43y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249484" "04214" "00331290" "00000" "Familial, X-linked" "33y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249493" "04214" "00331300" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000249494" "04214" "00331301" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000250242" "04214" "00332051" "00000" "Familial, X-linked" "41y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "40y" "" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250740" "00198" "00332552" "01807" "Unknown" "" "Cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "" "" "" "0000251544" "04214" "00333357" "00000" "Familial, X-linked recessive" "39y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251545" "04214" "00333358" "00000" "Familial, X-linked recessive" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251581" "04214" "00333394" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "RP" "" "0000251599" "04214" "00333412" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "RP" "" "0000251658" "04214" "00333473" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251708" "04214" "00333524" "00000" "Familial, X-linked" "24y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251709" "04214" "00333525" "00000" "Familial, X-linked" "19y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251710" "04214" "00333526" "00000" "Familial, X-linked" "24y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251711" "04214" "00333527" "00000" "Familial, X-linked" "66y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251719" "04214" "00333535" "00000" "Familial, X-linked" "27y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251720" "04214" "00333536" "00000" "Familial, X-linked" "52y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251721" "04214" "00333537" "00000" "Familial, X-linked" "40y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251722" "04214" "00333538" "00000" "Familial, X-linked" "16y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251723" "04214" "00333539" "00000" "Familial, X-linked" "36y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251724" "04214" "00333540" "00000" "Familial, X-linked" "17y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251725" "04214" "00333541" "00000" "Familial, X-linked" "13y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251726" "04214" "00333542" "00000" "Familial, X-linked" "49y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251727" "04214" "00333543" "00000" "Familial, X-linked" "17y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251728" "04214" "00333544" "00000" "Familial, X-linked" "24y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251729" "04214" "00333545" "00000" "Familial, X-linked" "51y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251730" "04214" "00333546" "00000" "Familial, X-linked" "12y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251731" "04214" "00333547" "00000" "Familial, X-linked" "45y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251732" "04214" "00333548" "00000" "Familial, X-linked" "11y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251733" "04214" "00333549" "00000" "Familial, X-linked" "45y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251734" "04214" "00333550" "00000" "Familial, X-linked" "20y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251735" "04214" "00333551" "00000" "Familial, X-linked" "25y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251736" "04214" "00333552" "00000" "Familial, X-linked" "42y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251737" "04214" "00333553" "00000" "Familial, X-linked" "54y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251738" "04214" "00333554" "00000" "Familial, X-linked" "65y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251739" "04214" "00333555" "00000" "Familial, X-linked" "62y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (with rpgr signs)" "" "0000251740" "04214" "00333556" "00000" "Familial, X-linked" "45y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251741" "04214" "00333557" "00000" "Familial, X-linked" "19y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251742" "04214" "00333558" "00000" "Familial, X-linked" "57y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251743" "04214" "00333559" "00000" "Familial, X-linked" "6y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251744" "04214" "00333560" "00000" "Familial, X-linked" "32y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251745" "04214" "00333561" "00000" "Familial, X-linked" "36y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251746" "04214" "00333562" "00000" "Familial, X-linked" "56y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251747" "04214" "00333563" "00000" "Familial, X-linked" "42y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251748" "04214" "00333564" "00000" "Familial, X-linked" "39y" "clinical category IA1ai" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (with rpgr signs)" "" "0000251765" "04214" "00333581" "00000" "Familial, X-linked" "11y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251766" "04214" "00333582" "00000" "Familial, X-linked" "13y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251796" "04214" "00333612" "00000" "Familial, X-linked" "39y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251797" "04214" "00333613" "00000" "Familial, X-linked" "62y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251798" "04214" "00333614" "00000" "Familial, X-linked" "22y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251799" "04214" "00333615" "00000" "Familial, X-linked" "44y" "clinical category IA1aiv" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251803" "04214" "00333619" "00000" "Familial, X-linked" "55y" "clinical category IA1bi" "" "" "" "" "" "" "" "" "" "" "cone dystrophy, X-linked" "" "0000251804" "04214" "00333620" "00000" "Familial, X-linked" "50y" "clinical category IA1bi" "" "" "" "" "" "" "" "" "" "" "cone dystrophy, X-linked" "" "0000251805" "04214" "00333621" "00000" "Familial, X-linked" "43y" "clinical category IA1bi" "" "" "" "" "" "" "" "" "" "" "cone dystrophy, X-linked" "" "0000251806" "04214" "00333622" "00000" "Familial, X-linked" "47y" "clinical category IA1bi" "" "" "" "" "" "" "" "" "" "" "cone dystrophy, X-linked" "" "0000251807" "04214" "00333623" "00000" "Familial, X-linked" "52y" "clinical category IA1bi" "" "" "" "" "" "" "" "" "" "" "cone dystrophy, X-linked" "" "0000251808" "04214" "00333624" "00000" "Familial, X-linked" "47y" "clinical category IA1bi" "" "" "" "" "" "" "" "" "" "" "cone dystrophy, X-linked" "" "0000252041" "04214" "00333856" "00000" "Isolated (sporadic)" "15y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252042" "04214" "00333857" "00000" "Isolated (sporadic)" "22y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252526" "04214" "00334437" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252527" "04214" "00334438" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252528" "04214" "00334439" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252614" "04214" "00334574" "00000" "Unknown" "47y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252875" "00198" "00335160" "00000" "Unknown" "" "6y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252876" "00198" "00335161" "00000" "Unknown" "" "10y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252877" "00198" "00335162" "00000" "Familial, autosomal dominant" "" "13y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252878" "00198" "00335163" "00000" "Familial, autosomal dominant" "" "10y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252879" "00198" "00335164" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000252880" "00198" "00335165" "00000" "Familial, X-linked" "" "5y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252881" "00198" "00335166" "00000" "Familial, X-linked" "" "6y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252882" "00198" "00335167" "00000" "Unknown" "" "7y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000252968" "04214" "00335253" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253031" "04214" "00335316" "02485" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253032" "04214" "00335317" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253033" "04214" "00335318" "02485" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253038" "04214" "00335323" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253039" "04214" "00335324" "02485" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253369" "04214" "00335423" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253375" "04214" "00335429" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253444" "04214" "00335499" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253445" "04214" "00335500" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253446" "04214" "00335501" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253447" "04214" "00335502" "00000" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253638" "04214" "00335718" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253639" "04214" "00335719" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253956" "04214" "00358741" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253957" "04214" "00358742" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253958" "04214" "00358743" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253959" "04214" "00358744" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254007" "04214" "00358792" "00000" "Familial, X-linked" "16y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254010" "04214" "00358795" "00000" "Unknown" "14y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254260" "04214" "00358962" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254261" "04214" "00358963" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254262" "04214" "00358964" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254339" "04214" "00359042" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254422" "04214" "00359125" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254437" "04214" "00359140" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254466" "04214" "00359169" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254486" "04214" "00359189" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254495" "04214" "00359198" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254517" "04214" "00359220" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254634" "04214" "00359363" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000254639" "04214" "00359368" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000256831" "04214" "00361426" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.2, OS = 0.2. ERG: Not performed." "55y" "" "" "Poor vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258015" "04214" "00362602" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258016" "04214" "00362603" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258017" "04214" "00362604" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258018" "04214" "00362605" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258019" "04214" "00362606" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258020" "04214" "00362607" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258021" "04214" "00362608" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258022" "04214" "00362609" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258023" "04214" "00362610" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258024" "04214" "00362611" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258025" "04214" "00362612" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258026" "04214" "00362613" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258027" "04214" "00362614" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258028" "04214" "00362615" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258029" "04214" "00362616" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258030" "04214" "00362617" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258031" "04214" "00362618" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258032" "04214" "00362619" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258033" "04214" "00362620" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258034" "04214" "00362621" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258035" "04214" "00362622" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258036" "04214" "00362623" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258037" "04214" "00362624" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258038" "04214" "00362625" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258039" "04214" "00362626" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258040" "04214" "00362627" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258041" "04214" "00362628" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258042" "04214" "00362629" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258043" "04214" "00362630" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258044" "04214" "00362631" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258045" "04214" "00362632" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258046" "04214" "00362633" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258047" "04214" "00362634" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258048" "04214" "00362635" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258049" "04214" "00362636" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked cone dystrophy (XLCOD)" "" "0000258050" "04214" "00362637" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258052" "04214" "00362639" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258053" "04214" "00362640" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258054" "04214" "00362641" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258055" "04214" "00362642" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258056" "04214" "00362643" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258057" "04214" "00362644" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258058" "04214" "00362645" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258059" "04214" "00362646" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258060" "04214" "00362647" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258061" "04214" "00362648" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258062" "04214" "00362649" "00008" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked Retinitis pigmentosa" "" "0000258303" "04214" "00362937" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258304" "04214" "00362938" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258554" "00198" "00363188" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "" "0000258721" "04214" "00363356" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258722" "04214" "00363357" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258723" "04214" "00363358" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258745" "04214" "00363380" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258746" "04214" "00363381" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258763" "04214" "00363398" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258764" "04214" "00363399" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258831" "04214" "00363470" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258832" "04214" "00363471" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258833" "04214" "00363472" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267393" "04214" "00372064" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, high myopia" "" "0000267823" "04214" "00372508" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267905" "04214" "00372626" "00000" "Familial, autosomal dominant" "34y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267957" "04214" "00372678" "00000" "Isolated (sporadic)" "20y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267958" "04214" "00372679" "00000" "Familial, X-linked" "5y" "see paper; ..." "5y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267959" "04214" "00372680" "00000" "Familial, X-linked" "10y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267960" "04214" "00372681" "00000" "Familial, X-linked" "26y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267961" "04214" "00372682" "00000" "Familial, X-linked" "22y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267962" "04214" "00372683" "00000" "Familial, X-linked" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267963" "04214" "00372684" "00000" "Isolated (sporadic)" "22y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268020" "04214" "00372741" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268633" "04214" "00373357" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268635" "04214" "00373359" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268693" "04214" "00373417" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268748" "04214" "00373472" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268795" "04214" "00373519" "00000" "Familial, X-linked" "29y" "night blindness, visual field constriction, decreased visual acuity, nystagmus; myopia; bone spicule pigmentation in the periphery" "5y" "" "" "night blindness" "" "" "" "" "" "" "retinal dystrophy" "" "0000268796" "04214" "00373520" "00000" "Familial, X-linked" "23y" "night blindness, visual field constriction, decreased visual acuity.; blue-yellow dyschromatopsia; myopia; bone spicules in periphery, optic disc pallor, preserved macula" "11y" "" "" "night blindness" "" "" "" "" "" "" "retinal dystrophy" "" "0000269013" "04214" "00373804" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269072" "04214" "00373863" "00000" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269083" "04214" "00373874" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000269117" "04214" "00373908" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269118" "04214" "00373909" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269148" "04214" "00373939" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269155" "04214" "00373946" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269156" "04214" "00373947" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269157" "04214" "00373948" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269160" "04214" "00373951" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270104" "04214" "00374894" "00000" "Familial, X-linked" "36y" "best corrected visual acuity 0.3/0.3" "6y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270125" "04214" "00374915" "00000" "Familial, X-linked" "48y" "best corrected visual acuity 0.12/0.15" "10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270144" "04214" "00374934" "00000" "Isolated (sporadic)" "35y" "best corrected visual acuity 0.2/0.2" "32y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270196" "04214" "00374986" "00006" "Unknown" "48y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "bull\'s-eye maculopathy" "" "0000270529" "04214" "00375315" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270530" "04214" "00375316" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270531" "04214" "00375317" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270532" "04214" "00375318" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270557" "04214" "00375343" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270631" "04214" "00375417" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271398" "04214" "00376188" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "simplex renitis pigmentosa" "" "0000271454" "04214" "00376246" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271455" "04214" "00376247" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271456" "04214" "00376248" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271457" "04214" "00376249" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271458" "04214" "00376250" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271459" "04214" "00376251" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271460" "04214" "00376252" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271461" "04214" "00376253" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271462" "04214" "00376254" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271463" "04214" "00376255" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271464" "04214" "00376256" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271465" "04214" "00376257" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271466" "04214" "00376258" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271467" "04214" "00376259" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271468" "04214" "00376260" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271469" "04214" "00376261" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271470" "04214" "00376262" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271471" "04214" "00376263" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271472" "04214" "00376264" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271473" "04214" "00376265" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271474" "04214" "00376266" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271475" "04214" "00376267" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271476" "04214" "00376268" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271477" "04214" "00376269" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271478" "04214" "00376270" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271479" "04214" "00376271" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271480" "04214" "00376272" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271481" "04214" "00376273" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271482" "04214" "00376274" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271483" "04214" "00376275" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271484" "04214" "00376276" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271485" "04214" "00376277" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Familial-X linked renitis pigmentosa" "" "0000271498" "04214" "00376290" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa ( RP)" "" "0000271499" "04214" "00376291" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa ( RP)" "" "0000271500" "04214" "00376292" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa ( RP)" "" "0000271504" "04214" "00376296" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy (CRD)" "" "0000271899" "04214" "00376688" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271900" "04214" "00376689" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271901" "04214" "00376690" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271902" "04214" "00376691" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271903" "04214" "00376692" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271904" "04214" "00376693" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271905" "04214" "00376694" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271906" "04214" "00376695" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271907" "04214" "00376696" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271908" "04214" "00376697" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271909" "04214" "00376698" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271910" "04214" "00376699" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271911" "04214" "00376700" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271912" "04214" "00376701" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271913" "04214" "00376702" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271914" "04214" "00376703" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271915" "04214" "00376704" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271916" "04214" "00376705" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271917" "04214" "00376706" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271918" "04214" "00376707" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271919" "04214" "00376708" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000271944" "04214" "00376733" "00000" "Familial, X-linked" "48y" "Macular atrophy and pigmentation BE" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271945" "04214" "00376734" "00000" "Familial, X-linked" "19y" "Mottling of RPE at macula" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271947" "04214" "00376736" "00000" "Familial, X-linked" "40y" "Macular RPE atrophy BE" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271948" "04214" "00376737" "00000" "Familial, X-linked" "37y" "No definite abnormality" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000271959" "04214" "00376748" "00000" "Familial, X-linked" "15y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271980" "04214" "00376769" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "" "" "Progressive pigmentary retinopathy" "" "0000271987" "04214" "00376776" "00000" "Familial, autosomal dominant" "70y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271996" "04214" "00376785" "00000" "Familial, X-linked" "18y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271997" "04214" "00376786" "00000" "Familial, X-linked" "44y" "" "" "" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000272022" "04214" "00376812" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272023" "04214" "00376813" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272029" "04214" "00376819" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272030" "04214" "00376820" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272178" "04214" "00376987" "00000" "Familial, X-linked" "10y" "" "6y" "" "" "" "" "" "" "" "" "" "X-Linked Retinitis Pigmentosa" "" "0000272179" "04214" "00376988" "00000" "Familial, X-linked" "17y" "" "" "" "" "" "" "" "" "" "" "" "X-Linked Retinitis Pigmentosa" "" "0000272180" "04214" "00376989" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-Linked Retinitis Pigmentosa" "" "0000272181" "04214" "00376990" "00000" "Familial, X-linked" "4y" "" "2y" "" "" "" "" "" "" "" "" "" "X-Linked Retinitis Pigmentosa" "" "0000272329" "04214" "00377171" "00000" "Familial, X-linked recessive" "46y" "see paper" "6y" "" "12y" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272330" "04214" "00377172" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272331" "04214" "00377173" "00000" "Familial, X-linked recessive" "" "see paper" "6y" "" "12y" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272332" "04214" "00377174" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272333" "04214" "00377175" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272334" "04214" "00377176" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272377" "04214" "00377219" "00000" "Familial, X-linked dominant" "5y" "see paper" "3y" "" "4y" "" "" "" "" "" "" "dystrophy, cone-rod, X-linked, type 1 (CORDX-1)" "retinal disease" "" "0000272378" "04214" "00377220" "00000" "Familial, X-linked dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod, X-linked, type 1 (CORDX-1)" "retinal disease" "" "0000272379" "04214" "00377221" "00000" "Familial, X-linked dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod, X-linked, type 1 (CORDX-1)" "retinal disease" "" "0000272387" "04214" "00377229" "00000" "Familial, X-linked recessive" "28y" "see paper" "8y" "" "8y" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272388" "04214" "00377230" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272389" "04214" "00377231" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272393" "04214" "00377235" "00000" "Familial, X-linked dominant" "51y" "see paper" "3y" "" "17y" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272394" "04214" "00377236" "00000" "Familial, X-linked dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272395" "04214" "00377237" "00000" "Familial, X-linked dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272396" "04214" "00377238" "00000" "Familial, X-linked dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272409" "04214" "00377251" "00000" "Familial, X-linked recessive" "34y" "see paper; ..." "15y" "" "24y" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272411" "04214" "00377253" "00000" "Familial, X-linked dominant" "61y" "see paper; ..." "5y" "" "5y" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272412" "04214" "00377254" "00000" "Familial, X-linked dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272413" "04214" "00377255" "00000" "Familial, X-linked dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 3 (RP3)" "retinal disease" "" "0000272643" "04214" "00377493" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000272644" "04214" "00377494" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000272645" "04214" "00377495" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000272646" "04214" "00377496" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000272670" "04214" "00377520" "00000" "Familial, X-linked recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 3" "retinal disease" "" "0000272874" "04214" "00377723" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa, Other retinal degeneration" "" "0000272875" "04214" "00377724" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa, Other retinal degeneration" "" "0000273097" "04214" "00377951" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273153" "04214" "00378007" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273154" "04214" "00378008" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" "" "0000273171" "00112" "00378026" "03508" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273180" "00112" "00378034" "03508" "Familial, X-linked recessive" "" "HP:0000662, HP:0000613, HP:0001133, HP:0001417, HP:0000510" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273217" "04214" "00379344" "00000" "Familial, X-linked" "22y-78y" "Initial symptom of night blindness in early childhood (5-8 years) and the disease rapidly progressed to a severe loss of vision by the age 30-35 years in most of the men" "" "" "" "" "" "" "" "" "" "" "severe X-linked retinitis pigmentosa (xlRP)" "" "0000273218" "04214" "00379345" "00000" "Familial, X-linked" "24y-47y" "severely affected" "" "" "" "" "" "" "" "" "" "" "severe X-linked retinitis pigmentosa (xlRP)" "" "0000273219" "04214" "00379346" "00000" "Familial, X-linked" "24y-47y" "asymptomatic obligated carriers" "" "" "" "" "" "" "" "" "" "" "severe X-linked retinitis pigmentosa (xlRP)" "" "0000273341" "04214" "00379468" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273342" "04214" "00379469" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273343" "04214" "00379470" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273344" "04214" "00379471" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273345" "04214" "00379472" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273346" "04214" "00379473" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273347" "04214" "00379474" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" "" "0000273348" "04214" "00379475" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273349" "04214" "00379476" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273350" "04214" "00379477" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273402" "04214" "00379529" "00000" "Familial, X-linked" "18y" "" "" "" "" "" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "0000273405" "04214" "00379532" "00000" "Familial, X-linked" "30y" "" "" "" "" "" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "0000273412" "00112" "00379539" "03508" "Familial, X-linked dominant" "" "HP:0000662, HP:0000613, HP:0001417, HP:0000510, HP:0001133" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273481" "00112" "00379637" "03508" "Familial, X-linked dominant" "" "HP:0000662,\tHP:0001123\tHP:0001133,\tHP:0032037,\tHP:0001417,\tHP:0000510" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273521" "00112" "00379677" "03508" "Familial, X-linked dominant" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0003745,\tHP:0000510" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273529" "00112" "00379685" "03508" "Familial, X-linked dominant" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0001417,\tHP:0000510" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273547" "04214" "00379702" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000273548" "04214" "00379703" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000273735" "04214" "00379881" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273736" "04214" "00379882" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000273737" "04214" "00379883" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273738" "04214" "00379884" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273739" "04214" "00379885" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273740" "04214" "00379886" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000273741" "04214" "00379887" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000273742" "04214" "00379888" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273743" "04214" "00379889" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000273744" "04214" "00379890" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000273745" "04214" "00379891" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000273746" "04214" "00379892" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000273747" "04214" "00379893" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000273748" "04214" "00379894" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000274007" "00112" "00380152" "03508" "Familial, X-linked dominant" "" "HP:0032037,\tHP:0000662,\tHP:0001133,\tHP:0000510" "" "" "" "" "" "" "" "" "" "" "" "" "0000274016" "04215" "00380161" "03508" "Familial, X-linked dominant" "" "HP:0001141,\tHP:0000662,\tHP:0000613,\tHP:0001129,\tHP:0000551,\tHP:0001288,\tHP:0000548" "" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" "" "0000274052" "04214" "00380197" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274053" "04214" "00380198" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274054" "04214" "00380199" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274690" "05415" "00380837" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000274798" "04214" "00380947" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274799" "04214" "00380948" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274800" "04214" "00380949" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274801" "04214" "00380950" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274802" "04214" "00380951" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274803" "04214" "00380952" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274804" "04214" "00380953" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274805" "04214" "00380954" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274806" "04214" "00380955" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274807" "04214" "00380956" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274808" "04214" "00380957" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274809" "04214" "00380958" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274810" "04214" "00380959" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274811" "04214" "00380960" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274812" "04214" "00380961" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274813" "04214" "00380962" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274814" "04214" "00380963" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274815" "04214" "00380964" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274816" "04214" "00380965" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone rod dystrophy (CORD)" "" "0000274817" "04214" "00380966" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274818" "04214" "00380967" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274819" "04214" "00380968" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa (RP)" "" "0000274820" "04214" "00380969" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked cone-dystrophy (COD)" "" "0000274821" "04214" "00380970" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone rod dystrophy (CORD)" "" "0000274822" "04214" "00380971" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked cone-dystrophy (COD)" "" "0000274823" "04214" "00380972" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274826" "04214" "00380975" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274827" "04214" "00380976" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274828" "04214" "00380977" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274829" "04214" "00380978" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274830" "04214" "00380979" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274831" "04214" "00380980" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274832" "04214" "00380981" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274833" "04214" "00380982" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274834" "04214" "00380983" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274835" "04214" "00380984" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274836" "04214" "00380985" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274837" "04214" "00380986" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274838" "04214" "00380987" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274839" "04214" "00380988" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274840" "04214" "00380989" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274841" "04214" "00380990" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274842" "04214" "00380991" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274843" "04214" "00380992" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274844" "04214" "00380993" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000274871" "04214" "00381020" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "X-linked retinitis pigmentosa (RP)" "" "0000275088" "04214" "00381237" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, x linked retinitis pigmentosa" "" "0000275493" "04214" "00381651" "00000" "Familial, autosomal recessive" "" "" "54y" "" "" "" "" "" "" "" "" "" "X-linked RP" "" "0000275508" "04214" "00381666" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275538" "04214" "00381696" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275549" "04214" "00381707" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275551" "04214" "00381709" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000275624" "04214" "00381782" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275625" "04214" "00381783" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275626" "04214" "00381784" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275627" "04214" "00381785" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275628" "04214" "00381786" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275629" "04214" "00381787" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275630" "04214" "00381788" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275759" "04214" "00381917" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275760" "04214" "00381918" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275761" "04214" "00381919" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275762" "04214" "00381920" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275763" "04214" "00381921" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275764" "04214" "00381922" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275765" "04214" "00381923" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275766" "04214" "00381924" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275767" "04214" "00381925" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275768" "04214" "00381926" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275769" "04214" "00381927" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275770" "04214" "00381928" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000276073" "04214" "00382224" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" "0000276273" "04214" "00382424" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276274" "04214" "00382425" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276275" "04214" "00382426" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276276" "04214" "00382427" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276277" "04214" "00382428" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276278" "04214" "00382429" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276279" "04214" "00382430" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276280" "04214" "00382431" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276281" "04214" "00382432" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000276282" "04214" "00382433" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276283" "04214" "00382434" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276284" "04214" "00382435" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276285" "04214" "00382436" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276286" "04214" "00382437" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276287" "04214" "00382438" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276325" "04214" "00382476" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" "0000276450" "04214" "00382601" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276502" "04214" "00382653" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276653" "04214" "00382797" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277611" "04214" "00383826" "00000" "Familial, X-linked recessive" "14y" "BCVA OD-OS: 20/30-20/30" "" "" "12y" "" "" "" "" "" "" "" "" "" "0000277612" "04214" "00383827" "00000" "Familial, X-linked recessive" "23y" "BCVA OD-OS: 20/20-20/20" "" "" "18y" "" "" "" "" "" "" "" "" "" "0000277613" "04214" "00383828" "00000" "Familial, X-linked recessive" "25y" "BCVA OD-OS: 20/50-20/50" "" "" "16y" "" "" "" "" "" "" "" "" "" "0000277614" "04214" "00383829" "00000" "Familial, X-linked recessive" "54y" "BCVA OD-OS: hand movement-no light perception" "" "" "36y" "" "" "" "" "" "" "" "" "" "0000278044" "04214" "00384259" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000278104" "04214" "00384319" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278130" "04214" "00384345" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278210" "04214" "00384425" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278258" "04214" "00384473" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278293" "04214" "00384508" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000278416" "00198" "00384626" "00000" "Familial, X-linked" "" "Retinitis pigmentosa (XL) and diabetes insipidus (XL) and hearing loss (AR)" "" "" "" "" "" "" "" "" "" "Mixed" "Syndromic retinitis pigmentosa" "" "0000278810" "04214" "00385026" "00000" "Isolated (sporadic)" "7y" "nyctalopia, no nystagmus, best corrected visual acuity right/left eye: 0.4/0.5" "4y" "" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278830" "04214" "00385046" "00000" "Familial, X-linked" "4y" "nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: FC/0.1" "3y" "" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278832" "04214" "00385048" "00000" "Familial, X-linked" "12y" "nyctalopia, no nystagmus, no oculodigital sign, ERG severely declined, best corrected visual acuity right/left eye: 0.3/0.2" "4y" "" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000279214" "04214" "00385418" "00000" "Familial, X-linked" "57y" "57" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279215" "04214" "00385419" "00000" "Familial, X-linked" "39y" "39" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279216" "04214" "00385420" "00000" "Familial, X-linked" "32y" "32" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279553" "04214" "00385740" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279554" "04214" "00385741" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279555" "04214" "00385742" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279630" "04214" "00385826" "00000" "Familial, autosomal dominant" "13y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279631" "04214" "00385827" "00000" "Familial, X-linked" "25y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279632" "04214" "00385828" "00000" "Familial, X-linked" "61y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279633" "04214" "00385829" "00000" "Familial, X-linked" "37y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279634" "04214" "00385830" "00000" "Familial, X-linked" "47y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279635" "04214" "00385831" "00000" "Familial, X-linked" "49y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279636" "04214" "00385832" "00000" "Familial, X-linked" "41y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279637" "04214" "00385833" "00000" "Familial, X-linked" "74y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279638" "04214" "00385834" "00000" "Familial, X-linked" "55y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279639" "04214" "00385835" "00000" "Familial, X-linked" "21y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279640" "04214" "00385836" "00000" "Familial, X-linked" "44y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279641" "04214" "00385837" "00000" "Familial, X-linked" "74y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279642" "04214" "00385838" "00000" "Familial, X-linked" "44y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279643" "04214" "00385839" "00000" "Familial, X-linked" "19y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279644" "04214" "00385840" "00000" "Familial, X-linked" "39y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279985" "04214" "00386182" "00000" "Familial, X-linked" "12y" "" "" "" "3y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000279986" "04214" "00386183" "00000" "Familial, X-linked dominant" "82y" "" "" "" "4y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000279987" "04214" "00386184" "00000" "Familial, X-linked dominant" "26y" "" "" "" "26y" "" "" "" "" "" "" "subclinical retinitis pigmentosa" "" "" "0000279988" "04214" "00386185" "00000" "Familial, X-linked dominant" "53y" "" "" "" "4y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000280006" "04214" "00386203" "00000" "Familial, X-linked" "16y" "" "" "" "6y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000280022" "04214" "00386219" "00000" "Familial, X-linked" "34y" "" "" "" "24y" "" "" "" "" "" "" "retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280023" "04214" "00386220" "00000" "Familial, X-linked dominant" "67y" "" "" "" "" "" "" "" "" "" "" "atypical retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280070" "04214" "00386267" "00000" "Familial, X-linked dominant" "83y" "" "" "" "10y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280071" "04214" "00386268" "00000" "Familial, X-linked dominant" "55y" "" "" "" "40y" "" "" "" "" "" "" "atypical retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280087" "04214" "00386284" "00000" "Familial, X-linked dominant" "52y" "" "" "" "15y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280088" "04214" "00386285" "00000" "Familial, X-linked dominant" "15y" "" "" "" "8y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280089" "04214" "00386286" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "autosomal dominant retinitis pigmentosa" "" "0000280096" "04214" "00386293" "00000" "Familial, X-linked dominant" "83y" "" "" "" "10y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280097" "04214" "00386294" "00000" "Familial, X-linked dominant" "56y" "" "" "" "56y" "" "" "" "" "" "" "subclinical retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280098" "04214" "00386295" "00000" "Familial, X-linked dominant" "52y" "" "" "" "45y" "" "" "" "" "" "" "typical retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280099" "04214" "00386296" "00000" "Familial, X-linked dominant" "66y" "" "" "" "40y" "" "" "" "" "" "" "atypical retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" "" "0000280343" "04214" "00386543" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280344" "04214" "00386544" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280350" "04214" "00386550" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280352" "04214" "00386552" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280355" "04214" "00386555" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280390" "04214" "00386590" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280391" "04214" "00386591" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280397" "04214" "00386597" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280398" "04214" "00386598" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280407" "04214" "00386607" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280425" "04214" "00386625" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280437" "04214" "00386637" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280450" "04214" "00386650" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280459" "04214" "00386659" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280587" "04214" "00386787" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280602" "04214" "00386802" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280618" "04214" "00386818" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280622" "04214" "00386822" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280633" "04214" "00386833" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280634" "04214" "00386834" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280649" "04214" "00386849" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280910" "04214" "00387132" "00000" "Familial, X-linked recessive" "12y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280911" "04214" "00387133" "00000" "Familial, X-linked recessive" "30y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280912" "04214" "00387134" "00000" "Familial, X-linked recessive" "13y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280913" "04214" "00387135" "00000" "Familial, X-linked recessive" "6y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280914" "04214" "00387136" "00000" "Familial, X-linked recessive" "33y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280915" "04214" "00387137" "00000" "Familial, X-linked recessive" "16y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280916" "04214" "00387138" "00000" "Familial, X-linked recessive" "43y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280917" "04214" "00387139" "00000" "Familial, X-linked recessive" "36y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280918" "04214" "00387140" "00000" "Familial, X-linked recessive" "7y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280919" "04214" "00387141" "00000" "Familial, X-linked recessive" "53y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280920" "04214" "00387142" "00000" "Familial, X-linked recessive" "17y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "" "" "0000280966" "04214" "00387403" "00000" "Familial, X-linked" "56y" "anterior subcapsular cataract, total choroidal atrophy, positive family history, BCVA OD/OS: HM/HM, high myopia" "3y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000281186" "04214" "00387623" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "Adult retinal dystrophy" "" "0000281195" "04214" "00387632" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Adult retinal dystrophy" "" "0000281233" "04214" "00387670" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Childhood retinal disease" "" "0000281234" "04214" "00387671" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Childhood retinal disease" "" "0000281235" "04214" "00387672" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Childhood retinal disease" "" "0000282104" "04214" "00388564" "00000" "Familial, X-linked recessive" "" "Non‐syndrom" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa type 3 Cone‐rod dystrophy type" "Retinitis pigmentosa" "" "0000282262" "04214" "00388721" "00000" "Familial, X-linked" "58y" "age at genetic diagnosis mentioned" "" "" "57y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282305" "04214" "00388764" "00000" "Familial, X-linked" "57y" "age at genetic diagnosis mentioned" "" "" "52y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282360" "04214" "00388819" "00000" "Familial, X-linked" "69y" "age at genetic diagnosis mentioned" "" "" "68y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282361" "04214" "00388820" "00000" "Familial, X-linked" "61y" "age at genetic diagnosis mentioned" "" "" "60y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282362" "04214" "00388821" "00000" "Familial, X-linked" "51y" "age at genetic diagnosis mentioned" "" "" "50y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282369" "04214" "00388828" "00000" "Familial, X-linked" "47y" "age at genetic diagnosis mentioned" "" "" "42y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282417" "04214" "00388876" "00000" "Familial, X-linked" "66y" "age at genetic diagnosis mentioned" "" "" "65y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282418" "04214" "00388877" "00000" "Familial, X-linked" "43y" "age at genetic diagnosis mentioned" "" "" "42y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282419" "04214" "00388878" "00000" "Familial, X-linked" "38y" "age at genetic diagnosis mentioned" "" "" "37y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282459" "04214" "00388918" "00000" "Familial, X-linked" "43y" "age at genetic diagnosis mentioned" "" "" "36y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282509" "04214" "00388968" "00000" "Familial, X-linked" "61y" "age at genetic diagnosis mentioned" "" "" "53y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282512" "04214" "00388971" "00000" "Familial, X-linked" "36y" "age at genetic diagnosis mentioned" "" "" "30y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282528" "04214" "00388987" "00000" "Familial, X-linked" "54y" "age at genetic diagnosis mentioned" "" "" "48y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282537" "04214" "00388996" "00000" "Familial, X-linked" "20y" "age at genetic diagnosis mentioned" "" "" "17y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282538" "04214" "00388997" "00000" "Familial, X-linked" "15y" "age at genetic diagnosis mentioned" "" "" "12y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282548" "04214" "00389007" "00000" "Familial, X-linked dominant" "26y" "age at genetic diagnosis mentioned" "" "" "19y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282549" "04214" "00389008" "00000" "Familial, X-linked dominant" "59y" "age at genetic diagnosis mentioned" "" "" "52y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282553" "04214" "00389012" "00000" "Familial, X-linked" "33y" "age at genetic diagnosis mentioned" "" "" "26y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282556" "04214" "00389015" "00000" "Familial, X-linked" "44y" "age at genetic diagnosis mentioned" "" "" "37y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282560" "04214" "00389019" "00000" "Familial, X-linked" "46y" "age at genetic diagnosis mentioned" "" "" "39y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282566" "04214" "00389025" "00000" "Familial, X-linked" "59y" "age at genetic diagnosis mentioned" "" "" "51y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282571" "04214" "00389030" "00000" "Familial, X-linked" "16y" "age at genetic diagnosis mentioned" "" "" "9y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282572" "04214" "00389031" "00000" "Familial, X-linked" "68y" "age at genetic diagnosis mentioned" "" "" "61y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282573" "04214" "00389032" "00000" "Familial, X-linked" "21y" "age at genetic diagnosis mentioned" "" "" "14y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282574" "04214" "00389033" "00000" "Familial, X-linked" "16y" "age at genetic diagnosis mentioned" "" "" "9y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282580" "04214" "00389039" "00000" "Familial, X-linked" "27y" "age at genetic diagnosis mentioned" "" "" "21y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282581" "04214" "00389040" "00000" "Familial, X-linked" "75y" "age at genetic diagnosis mentioned" "" "" "69y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282587" "04214" "00389046" "00000" "Familial, X-linked dominant" "37y" "age at genetic diagnosis mentioned" "" "" "30y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282588" "04214" "00389047" "00000" "Familial, X-linked dominant" "39y" "age at genetic diagnosis mentioned" "" "" "32y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282591" "04214" "00389050" "00000" "Familial, X-linked" "33y" "age at genetic diagnosis mentioned" "" "" "30y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282594" "04214" "00389053" "00000" "Familial, X-linked" "81y" "age at genetic diagnosis mentioned" "" "" "76y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282596" "04214" "00389055" "00000" "Familial, X-linked" "33y" "age at genetic diagnosis mentioned" "" "" "26y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282604" "04214" "00389063" "00000" "Familial, X-linked dominant" "68y" "age at genetic diagnosis mentioned" "" "" "62y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282605" "04214" "00389064" "00000" "Familial, X-linked dominant" "40y" "age at genetic diagnosis mentioned" "" "" "34y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282609" "04214" "00389068" "00000" "Familial, X-linked" "49y" "age at genetic diagnosis mentioned" "" "" "43y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282614" "04214" "00389073" "00000" "Familial, X-linked dominant" "44y" "age at genetic diagnosis mentioned" "" "" "38y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282615" "04214" "00389074" "00000" "Familial, X-linked dominant" "16y" "age at genetic diagnosis mentioned" "" "" "10y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282619" "04214" "00389078" "00000" "Familial, X-linked" "18y" "age at genetic diagnosis mentioned" "" "" "13y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282623" "04214" "00389082" "00000" "Familial, X-linked" "68y" "age at genetic diagnosis mentioned" "" "" "63y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282630" "04214" "00389089" "00000" "Familial, X-linked" "42y" "age at genetic diagnosis mentioned" "" "" "37y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282641" "04214" "00389100" "00000" "Familial, X-linked" "28y" "age at genetic diagnosis mentioned" "" "" "24y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282651" "04214" "00389110" "00000" "Familial, X-linked dominant" "90y" "age at genetic diagnosis mentioned" "" "" "85y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282652" "04214" "00389111" "00000" "Familial, X-linked dominant" "14y" "age at genetic diagnosis mentioned" "" "" "9y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282653" "04214" "00389112" "00000" "Familial, X-linked dominant" "11y" "age at genetic diagnosis mentioned" "" "" "6y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282654" "04214" "00389113" "00000" "Familial, X-linked dominant" "70y" "age at genetic diagnosis mentioned" "" "" "65y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282660" "04214" "00389119" "00000" "Familial, X-linked dominant" "40y" "age at genetic diagnosis mentioned" "" "" "36y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282663" "04214" "00389122" "00000" "Familial, X-linked" "29y" "age at genetic diagnosis mentioned" "" "" "24y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282667" "04214" "00389126" "00000" "Familial, X-linked dominant" "58y" "age at genetic diagnosis mentioned" "" "" "52y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282671" "04214" "00389130" "00000" "Familial, X-linked" "55y" "age at genetic diagnosis mentioned" "" "" "51y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282672" "04214" "00389131" "00000" "Familial, X-linked dominant" "50y" "age at genetic diagnosis mentioned" "" "" "46y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282673" "04214" "00389132" "00000" "Familial, X-linked dominant" "22y" "age at genetic diagnosis mentioned" "" "" "17y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282681" "04214" "00389140" "00000" "Familial, X-linked" "41y" "age at genetic diagnosis mentioned" "" "" "37y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282682" "04214" "00389141" "00000" "Familial, X-linked" "32y" "age at genetic diagnosis mentioned" "" "" "28y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282687" "04214" "00389146" "00000" "Familial, X-linked dominant" "47y" "age at genetic diagnosis mentioned" "" "" "43y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282690" "04214" "00389149" "00000" "Familial, X-linked" "21y" "age at genetic diagnosis mentioned" "" "" "17y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282691" "04214" "00389150" "00000" "Familial, X-linked" "21y" "age at genetic diagnosis mentioned" "" "" "16y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282697" "04214" "00389156" "00000" "Familial, X-linked" "45y" "age at genetic diagnosis mentioned" "" "" "41y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282699" "04214" "00389158" "00000" "Familial, X-linked dominant" "56y" "age at genetic diagnosis mentioned" "" "" "52y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282700" "04214" "00389159" "00000" "Familial, X-linked" "30y" "age at genetic diagnosis mentioned" "" "" "26y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282702" "04214" "00389161" "00000" "Familial, X-linked" "24y" "age at genetic diagnosis mentioned" "" "" "20y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282703" "04214" "00389162" "00000" "Familial, X-linked" "35y" "age at genetic diagnosis mentioned" "" "" "30y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282704" "04214" "00389163" "00000" "Familial, X-linked dominant" "49y" "age at genetic diagnosis mentioned" "" "" "45y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282707" "04214" "00389166" "00000" "Familial, X-linked" "27y" "age at genetic diagnosis mentioned" "" "" "23y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282708" "04214" "00389167" "00000" "Familial, X-linked" "82y" "age at genetic diagnosis mentioned" "" "" "78y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282711" "04214" "00389170" "00000" "Familial, X-linked dominant" "37y" "age at genetic diagnosis mentioned" "" "" "34y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282712" "04214" "00389171" "00000" "Familial, X-linked dominant" "64y" "age at genetic diagnosis mentioned" "" "" "61y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282715" "04214" "00389174" "00000" "Familial, X-linked dominant" "54y" "age at genetic diagnosis mentioned" "" "" "51y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282716" "04214" "00389175" "00000" "Familial, X-linked dominant" "27y" "age at genetic diagnosis mentioned" "" "" "23y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282717" "04214" "00389176" "00000" "Familial, X-linked dominant" "62y" "age at genetic diagnosis mentioned" "" "" "59y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282723" "04214" "00389182" "00000" "Familial, X-linked dominant" "70y" "age at genetic diagnosis mentioned" "" "" "66y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282724" "04214" "00389183" "00000" "Familial, X-linked dominant" "44y" "age at genetic diagnosis mentioned" "" "" "41y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282727" "04214" "00389186" "00000" "Familial, X-linked" "27y" "age at genetic diagnosis mentioned" "" "" "25y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282728" "04214" "00389187" "00000" "Familial, X-linked" "29y" "age at genetic diagnosis mentioned" "" "" "27y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282730" "04214" "00389189" "00000" "Familial, X-linked dominant" "69y" "age at genetic diagnosis mentioned" "" "" "66y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282732" "04214" "00389191" "00000" "Familial, X-linked" "20y" "age at genetic diagnosis mentioned" "" "" "17y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282741" "04214" "00389200" "00000" "Familial, X-linked" "49y" "age at genetic diagnosis mentioned" "" "" "47y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282744" "04214" "00389203" "00000" "Familial, X-linked" "12y" "age at genetic diagnosis mentioned" "" "" "9y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282745" "04214" "00389204" "00000" "Familial, X-linked" "70y" "age at genetic diagnosis mentioned" "" "" "69y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282750" "04214" "00389209" "00000" "Familial, X-linked" "29y" "age at genetic diagnosis mentioned" "" "" "26y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282756" "04214" "00389215" "00000" "Familial, X-linked" "40y" "age at genetic diagnosis mentioned" "" "" "38y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282760" "04214" "00389219" "00000" "Familial, X-linked dominant" "31y" "age at genetic diagnosis mentioned" "" "" "28y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282761" "04214" "00389220" "00000" "Familial, X-linked dominant" "55y" "age at genetic diagnosis mentioned" "" "" "52y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282762" "04214" "00389221" "00000" "Familial, X-linked dominant" "61y" "age at genetic diagnosis mentioned" "" "" "59y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282763" "04214" "00389222" "00000" "Familial, X-linked dominant" "86y" "age at genetic diagnosis mentioned" "" "" "84y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282764" "04214" "00389223" "00000" "Familial, X-linked dominant" "51y" "age at genetic diagnosis mentioned" "" "" "49y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282765" "04214" "00389224" "00000" "Familial, X-linked dominant" "23y" "age at genetic diagnosis mentioned" "" "" "21y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282766" "04214" "00389225" "00000" "Familial, X-linked dominant" "27y" "age at genetic diagnosis mentioned" "" "" "25y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282767" "04214" "00389226" "00000" "Familial, X-linked" "40y" "age at genetic diagnosis mentioned" "" "" "38y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282768" "04214" "00389227" "00000" "Familial, X-linked" "71y" "age at genetic diagnosis mentioned" "" "" "69y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282769" "04214" "00389228" "00000" "Familial, X-linked dominant" "57y" "age at genetic diagnosis mentioned" "" "" "54y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282771" "04214" "00389230" "00000" "Familial, X-linked" "19y" "age at genetic diagnosis mentioned" "" "" "17y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282773" "04214" "00389232" "00000" "Familial, X-linked" "52y" "age at genetic diagnosis mentioned" "" "" "50y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282775" "04214" "00389234" "00000" "Familial, X-linked" "44y" "age at genetic diagnosis mentioned" "" "" "43y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282778" "04214" "00389237" "00000" "Familial, X-linked" "26y" "age at genetic diagnosis mentioned" "" "" "24y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282780" "04214" "00389239" "00000" "Familial, X-linked" "45y" "age at genetic diagnosis mentioned" "" "" "44y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282781" "04214" "00389240" "00000" "Familial, X-linked" "39y" "age at genetic diagnosis mentioned" "" "" "38y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282782" "04214" "00389241" "00000" "Familial, X-linked" "24y" "age at genetic diagnosis mentioned" "" "" "23y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282783" "04214" "00389242" "00000" "Familial, X-linked" "22y" "age at genetic diagnosis mentioned" "" "" "21y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282784" "04214" "00389243" "00000" "Familial, X-linked" "32y" "age at genetic diagnosis mentioned" "" "" "30y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282786" "04214" "00389245" "00000" "Familial, X-linked" "32y" "age at genetic diagnosis mentioned" "" "" "30y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282794" "04214" "00389253" "00000" "Familial, X-linked dominant" "47y" "age at genetic diagnosis mentioned" "" "" "46y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282795" "04214" "00389254" "00000" "Familial, X-linked" "30y" "age at genetic diagnosis mentioned" "" "" "29y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282803" "04214" "00389262" "00000" "Familial, X-linked dominant" "46y" "age at genetic diagnosis mentioned" "" "" "44y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282808" "04214" "00389267" "00000" "Familial, X-linked" "22y" "age at genetic diagnosis mentioned" "" "" "22y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282818" "04214" "00389277" "00000" "Familial, X-linked dominant" "48y" "age at genetic diagnosis mentioned" "" "" "45y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282822" "04214" "00389281" "00000" "Familial, X-linked" "51y" "age at genetic diagnosis mentioned" "" "" "50y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282825" "04214" "00389284" "00000" "Familial, X-linked" "35y" "age at genetic diagnosis mentioned" "" "" "34y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282827" "04214" "00389286" "00000" "Familial, X-linked dominant" "20y" "age at genetic diagnosis mentioned" "" "" "18y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282828" "04214" "00389287" "00000" "Familial, X-linked" "36y" "age at genetic diagnosis mentioned" "" "" "31y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282830" "04214" "00389289" "00000" "Familial, X-linked" "39y" "age at genetic diagnosis mentioned" "" "" "35y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282834" "04214" "00389293" "00000" "Familial, X-linked" "45y" "age at genetic diagnosis mentioned" "" "" "38y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282836" "04214" "00389295" "00000" "Familial, X-linked" "18y" "age at genetic diagnosis mentioned" "" "" "15y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282840" "04214" "00389299" "00000" "Familial, X-linked" "38y" "age at genetic diagnosis mentioned" "" "" "30y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282849" "04214" "00389308" "00000" "Familial, X-linked" "62y" "age at genetic diagnosis mentioned" "" "" "55y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282851" "04214" "00389310" "00000" "Familial, X-linked" "37y" "age at genetic diagnosis mentioned" "" "" "31y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282859" "04214" "00389318" "00000" "Familial, X-linked" "50y" "age at genetic diagnosis mentioned" "" "" "46y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282862" "04214" "00389321" "00000" "Familial, X-linked" "57y" "age at genetic diagnosis mentioned" "" "" "54y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282867" "04214" "00389326" "00000" "Familial, X-linked" "57y" "age at genetic diagnosis mentioned" "" "" "54y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282870" "04214" "00389329" "00000" "Familial, X-linked dominant" "29y" "age at genetic diagnosis mentioned" "" "" "27y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282873" "04214" "00389332" "00000" "Familial, X-linked dominant" "57y" "age at genetic diagnosis mentioned" "" "" "55y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282878" "04214" "00389337" "00000" "Familial, X-linked dominant" "59y" "age at genetic diagnosis mentioned" "" "" "57y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000282883" "04214" "00389342" "00000" "Familial, X-linked" "33y" "age at genetic diagnosis mentioned" "" "" "28y" "" "" "" "" "" "" "X-linked retinitis pigmentosa" "" "" "0000283930" "04214" "00390392" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283931" "04214" "00390393" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283932" "04214" "00390394" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283933" "04214" "00390395" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283934" "04214" "00390396" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283935" "04214" "00390397" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283936" "04214" "00390398" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283937" "04214" "00390399" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284300" "04214" "00390812" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284301" "04214" "00390813" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284339" "04214" "00390851" "00000" "Familial, autosomal recessive" "21y-25y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284383" "04214" "00390895" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284384" "04214" "00390896" "00000" "Familial, autosomal recessive" "11y-15y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284393" "04214" "00390905" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284402" "04214" "00390914" "00000" "Unknown" "11y-15y" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284651" "04214" "00391209" "00000" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284652" "04214" "00391210" "00000" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284653" "04214" "00391211" "00000" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284667" "04214" "00391226" "00000" "Familial, X-linked" "49y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284675" "04214" "00391234" "00000" "Familial, X-linked" "37y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284677" "04214" "00391236" "00000" "Familial, X-linked" "47y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284683" "04214" "00391242" "00000" "Familial, X-linked" "22y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284707" "04214" "00391266" "00000" "Familial, X-linked" "69y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284723" "04214" "00391282" "00000" "Familial, X-linked" "35y" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000284873" "04214" "00391537" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "0000284874" "04214" "00391538" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "0000284875" "04214" "00391539" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "0000284876" "04214" "00391540" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "0000284877" "04214" "00391541" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "0000284878" "04214" "00391542" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "0000285412" "04214" "00392134" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin" "" "" "" "" "" "" "" "" "" "RPN-300" "rod-cone dystrophy" "" "0000285413" "04214" "00392135" "00000" "Unknown" "20y" "best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin" "" "" "10y" "" "" "" "" "" "" "RPN-301" "rod-cone dystrophy" "" "0000285414" "04214" "00392136" "00000" "Unknown" "10y" "best corrected visual acuity right/left eye: 0.7/0.8, visual field: constricted to 10deg-20deg both eyes (74/74), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits, RPE atrophy, choroidosis, fundus autofluorescence: hyperautofluorescence macular ring, PC speckled hypoautofluorescence, optical coherence tomography: widespread thinn" "" "" "5y" "" "" "" "" "" "" "RPN-302" "rod-cone dystrophy" "" "0000285437" "04214" "00392159" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin" "" "" "" "" "" "" "" "" "" "RPN-300" "rod-cone dystrophy" "" "0000285438" "04214" "00392160" "00000" "Unknown" "20y" "best corrected visual acuity right/left eye: 0.4/0.5, visual field: constricted 10deg both eyes (28/27), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., fundus autofluorescence:PC speekled hypoautofluorescence, optical coherence tomography: widespread thinnin" "" "" "10y" "" "" "" "" "" "" "RPN-301" "rod-cone dystrophy" "" "0000285439" "04214" "00392161" "00000" "Unknown" "10y" "best corrected visual acuity right/left eye: 0.7/0.8, visual field: constricted to 10deg-20deg both eyes (74/74), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits, RPE atrophy, choroidosis, fundus autofluorescence: hyperautofluorescence macular ring, PC speckled hypoautofluorescence, optical coherence tomography: widespread thinn" "" "" "5y" "" "" "" "" "" "" "RPN-302" "rod-cone dystrophy" "" "0000285608" "04214" "00392332" "00000" "Familial, X-linked" "27y" "best corrected visual acuity right/left eye: 0.1/0.3, electroretinograhy responses: extinguished" "<5y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "Retinitis pigmentosa, autosomal dominant" "" "0000285655" "04214" "00392379" "00000" "Familial, X-linked" "25y" "best corrected visual acuity right/left eye: 0.1/0.4, electroretinograhy responses: not available" "<5y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "Retinitis pigmentosa, autosomal dominant" "" "0000285656" "04214" "00392380" "00000" "Familial, X-linked" "6y" "best corrected visual acuity right/left eye: 0.6/0.4, electroretinograhy responses: extinguished" "5y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "Retinitis pigmentosa, autosomal dominant" "" "0000285661" "04214" "00392385" "00000" "Familial, X-linked" "48y" "best corrected visual acuity right/left eye: 0.03/0.04, electroretinograhy responses: extinguished" "<5y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, X-linked" "Retinitis pigmentosa, autosomal dominant" "" "0000285878" "04214" "00392631" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285879" "04214" "00392632" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286628" "04214" "00393387" "00000" "Isolated (sporadic)" "55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286629" "04214" "00393388" "00000" "Isolated (sporadic)" "53y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286630" "04214" "00393389" "00000" "Isolated (sporadic)" "28y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286631" "04214" "00393390" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286632" "04214" "00393391" "00000" "Isolated (sporadic)" "56y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286633" "04214" "00393392" "00000" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286647" "04214" "00393441" "00000" "Familial, X-linked" "48y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286652" "04214" "00393446" "00000" "Familial, X-linked" "8y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286657" "04214" "00393451" "00000" "Familial, X-linked" "36y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286678" "04214" "00393472" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286715" "04214" "00393509" "00000" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286717" "04214" "00393511" "00000" "Familial, X-linked" "27y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286718" "04214" "00393512" "00000" "Familial, X-linked" "40y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286725" "04214" "00393519" "00000" "Familial, X-linked" "32y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286730" "04214" "00393524" "00000" "Familial, X-linked" "14y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286738" "04214" "00393532" "00000" "Familial, X-linked" "42y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286747" "04214" "00393541" "00000" "Isolated (sporadic)" "4y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286754" "04214" "00393548" "00000" "Isolated (sporadic)" "44y" "" "" "" "" "" "" "" "" "" "" "" "Bietti Crystalline Corneoretinal Dystrophy (BCD)" "" "0000286756" "04214" "00393550" "00000" "Familial, X-linked" "30y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286779" "04214" "00393573" "00000" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286794" "04214" "00393588" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286825" "04214" "00393619" "00000" "Isolated (sporadic)" "17y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286841" "04214" "00393635" "00000" "Familial, X-linked" "10y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286860" "04214" "00393654" "00000" "Isolated (sporadic)" "16y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286863" "04214" "00393657" "00000" "Familial, X-linked" "64y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286867" "04214" "00393661" "00000" "Isolated (sporadic)" "9y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286916" "04214" "00393710" "00000" "Familial, X-linked" "45y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286928" "04214" "00393722" "00000" "Familial, X-linked" "34y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286934" "04214" "00393728" "00000" "Familial, X-linked" "31y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286946" "04214" "00393740" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286952" "04214" "00393746" "00000" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286955" "04214" "00393749" "00000" "Isolated (sporadic)" "46y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286958" "04214" "00393752" "00000" "Familial, X-linked" "31y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286966" "04214" "00393760" "00000" "Familial, X-linked" "7y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286967" "04214" "00393761" "00000" "Familial, X-linked" "6y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286976" "04214" "00393770" "00000" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis (LCA)" "" "0000286978" "04214" "00393772" "00000" "Familial, X-linked" "35y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286992" "04214" "00393786" "00000" "Familial, X-linked" "11y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286995" "04214" "00393789" "00000" "Isolated (sporadic)" "13y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287027" "04214" "00393821" "00000" "Familial, X-linked" "28y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287047" "04214" "00393841" "00000" "Isolated (sporadic)" "46y" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287082" "04214" "00393876" "00000" "Isolated (sporadic)" "1y6m" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287088" "04214" "00393882" "00000" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287090" "04214" "00393884" "00000" "Familial, X-linked" "36y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287091" "04214" "00393885" "00000" "Isolated (sporadic)" "41y" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287971" "04214" "00394768" "00000" "Familial, X-linked" "36y" "" "25y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287972" "04214" "00394769" "00000" "Familial, X-linked" "50y" "" "16y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287973" "04214" "00394770" "00000" "Familial, X-linked" "61y" "" "8y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287974" "04214" "00394771" "00000" "Familial, X-linked" "68y" "" "21y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287975" "04214" "00394772" "00000" "Familial, X-linked" "49y" "" "" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287976" "04214" "00394773" "00000" "Familial, X-linked" "49y" "" "30y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287977" "04214" "00394774" "00000" "Familial, X-linked" "54y" "" "10y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287978" "04214" "00394775" "00000" "Familial, X-linked" "32y" "" "5y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287979" "04214" "00394776" "00000" "Familial, X-linked" "28y" "" "15y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287980" "04214" "00394777" "00000" "Familial, X-linked" "30y" "" "6y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287981" "04214" "00394778" "00000" "Familial, X-linked" "52y" "" "5y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287982" "04214" "00394779" "00000" "Familial, X-linked" "71y" "" "46y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287983" "04214" "00394780" "00000" "Familial, X-linked" "27y" "" "5y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287984" "04214" "00394781" "00000" "Familial, X-linked" "48y" "" "6y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287985" "04214" "00394782" "00000" "Familial, X-linked" "38y" "" "15y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287986" "04214" "00394783" "00000" "Familial, X-linked" "49y" "" "10y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287987" "04214" "00394784" "00000" "Familial, X-linked" "30y" "" "18y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287988" "04214" "00394785" "00000" "Familial, X-linked" "22y" "" "4y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287989" "04214" "00394786" "00000" "Familial, X-linked" "61y" "" "25y" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000288811" "04214" "00395613" "00000" "Familial, X-linked" "" "cataract, dyschromatopsia, microcornea, photophobia, rod-cone dystrophy, severe myopia, obesity, nephrolithiasis, hepatic steatosis, bicornuate uterus, longitudinal vaginal septum, premature ovarian failure, microretrognathia, webbed neck" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, obesity, genital abnormalities, dysmoretinitis pigmentosahic features" "" "" "0000289017" "04214" "00395855" "00000" "Unknown" "39y" "" "27y" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000289031" "04214" "00395869" "00000" "Unknown" "17y1m" "" "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289032" "04214" "00395870" "00000" "Unknown" "60y1m" "" "3y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289060" "04214" "00395898" "00000" "Unknown" "27y4m" "" "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289061" "04214" "00395899" "00000" "Unknown" "48y4m" "" "21y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289072" "04214" "00395910" "00000" "Unknown" "47y5m" "" "50y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289097" "04214" "00395935" "00000" "Unknown" "15y8m" "" "8y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289105" "04214" "00395943" "00000" "Unknown" "18y10m" "" "1y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289118" "04214" "00395956" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289119" "04214" "00395957" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289120" "04214" "00395958" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "sector retinitis pigmentosa" "" "" "0000289587" "04214" "00396425" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000289649" "04214" "00396488" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (X-Linked) N" "" "" "0000289686" "04214" "00396525" "00000" "Isolated (sporadic)" "44y" "night blindness" "42y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289687" "04214" "00396526" "00000" "Familial, autosomal recessive" "18y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289690" "04214" "00396529" "00000" "Familial, autosomal recessive" "47y" "night blindness" "20y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289693" "04214" "00396532" "00000" "Familial, autosomal recessive" "63y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289737" "04214" "00396576" "00000" "Isolated (sporadic)" "9y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289789" "04214" "00396628" "00000" "Familial, X-linked" "39y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289809" "04214" "00396648" "00000" "Isolated (sporadic)" "59y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000290713" "04214" "00397589" "00000" "Familial, autosomal recessive" "10y" "best-corrected visua acuity right/left eye: 20/40/20/40, refraction (spherical equivalent: ^2.00/^1.75, kinetic visual field extent (V-4e; percentage of normal mean of V-4e target; 2 SD below normal equals 90%): 85/90" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000290714" "04214" "00397590" "00000" "Familial, autosomal recessive" "48y" "best-corrected visua acuity right/left eye: hand movement/HM, refraction (spherical equivalent: ^1.00/^1.25, kinetic visual field extent (V-4e; percentage of normal mean of V-4e target; 2 SD below normal equals 90%): 18/13" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000296002" "04214" "00403260" "00000" "Familial, X-linked" "3m" "nystagmus, normal visual attention, and a normal fundus exam. ERG responses were severely decreased" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB2)" "Leber congenital amaurosis (LCA)" "" "0000296780" "04214" "00404191" "00000" "Familial, X-linked" "07y" "see paper; no strabismus, 4 Hz multiplanar nystagmus bilateral symmetric" "01y" "" "" "" "" "" "" "" "" "CNSB2A" "incomplete X-linked congenital stationary night blindness (CSNB)" "" "0000300461" "04214" "00408335" "00000" "Familial, X-linked recessive" "15y" "best corrected visual acuity right, left eye: 20/25, 20/20; refraction right/left eye: -3.25 / -3.75" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300462" "04214" "00408336" "00000" "Familial, X-linked recessive" "17y" "best corrected visual acuity right, left eye: 20/50, 20/32; refraction right/left eye: +1.75 / +2.75" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300463" "04214" "00408337" "00000" "Familial, X-linked recessive" "22y" "best corrected visual acuity right, left eye: 20/40, 20/25; refraction right/left eye: -2.00 / -2.50" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300464" "04214" "00408338" "00000" "Familial, X-linked recessive" "25y" "best corrected visual acuity right, left eye: 20/50, 20/30; refraction right/left eye: +0.75 / +0.75" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300465" "04214" "00408339" "00000" "Familial, X-linked recessive" "27y" "best corrected visual acuity right, left eye: 20/32, 20/40; refraction right/left eye: -4.50 / -5.25" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300466" "04214" "00408340" "00000" "Familial, X-linked recessive" "28y" "best corrected visual acuity right, left eye: 20/25, 20/25; refraction right/left eye: -3.25 / -4.25" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300467" "04214" "00408341" "00000" "Familial, X-linked recessive" "38y" "best corrected visual acuity right, left eye: 20/63, 20/50; refraction right/left eye: -1.50 / -1.50" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300468" "04214" "00408342" "00000" "Familial, X-linked recessive" "42y" "best corrected visual acuity right, left eye: 20/32, 20/32; refraction right/left eye: -5.25 / -4.00" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300469" "04214" "00408343" "00000" "Familial, X-linked recessive" "45y" "best corrected visual acuity right, left eye: 20/100, 20/40; refraction right/left eye: -4.25 / -3.00" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300470" "04214" "00408344" "00000" "Familial, X-linked recessive" "45y" "best corrected visual acuity right, left eye: 20/32, 20/25; refraction right/left eye: +2.25 / +1.75" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300471" "04214" "00408345" "00000" "Familial, X-linked recessive" "46y" "best corrected visual acuity right, left eye: 20/160, 20/160; refraction right/left eye: -0.75 / -0.50" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300472" "04214" "00408346" "00000" "Familial, X-linked recessive" "47y" "best corrected visual acuity right, left eye: 20/300, 20/150; refraction right/left eye: -2.00 / -2.00" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300473" "04214" "00408347" "00000" "Familial, X-linked recessive" "51y" "best corrected visual acuity right, left eye: 20/70, 20/150; refraction right/left eye: -10.50 / -3.75" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300474" "04214" "00408348" "00000" "Familial, X-linked recessive" "53y" "best corrected visual acuity right, left eye: hand movement, hand movement; refraction right/left eye: NA / NA" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300475" "04214" "00408349" "00000" "Familial, X-linked recessive" "61y" "best corrected visual acuity right, left eye: hand movement, hand movement; refraction right/left eye: -6.50 / -6.00" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300476" "04214" "00408350" "00000" "Familial, autosomal recessive" "16y" "best corrected visual acuity right, left eye: 20/20, 20/20; refraction right/left eye: -1.50 / -1.50" "" "" "" "" "" "" "" "" "" "Retinal degeneration" "" "" "0000300533" "04214" "00408417" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000300534" "04214" "00408418" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000300535" "04214" "00408419" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000300539" "04214" "00408423" "00000" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305246" "04214" "00413265" "00000" "Familial, autosomal dominant" "41y" "best corrected visual acuity right, left eye: 20/40, 20/40; electro-oculogram: not performed; electroretinograms: pattern: absent, rod: normal, bright white flash: normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: normal; pathway response, ON: not performed, OFF: not performed" "39y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305247" "04214" "00413266" "00000" "Familial, autosomal dominant" "35y" "best corrected visual acuity right, left eye: 20/60, 20/40; electro-oculogram: extinguished light rise; electroretinograms: pattern: absent, rod: amplitude decreased, implicit time normal, bright white flash: amplitude decreased, implicit time normal, 30-Hz flicker cone response, amplitude: decreased, implicit time: increased; pathway response, ON: not performed, OFF: not performed" "16y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000306141" "04214" "00414306" "00000" "Familial, X-linked" "51y" "first symptom: night blindness, electroretinogram: non-recordable" "5y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306142" "04214" "00414307" "00000" "Familial, X-linked" "41y" "night blindness, electroretinogram: non-recordable" "7y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306143" "04214" "00414308" "00000" "Familial, X-linked" "6y" "night blindness, electroretinogram: non-recordable" "6y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306144" "04214" "00414309" "00000" "Familial, X-linked" "23y" "night blindness, electroretinogram: non-recordable" "1y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306145" "04214" "00414310" "00000" "Familial, X-linked" "29y" "night blindness and visual loss, electroretinogram: non-recordable" "9y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306146" "04214" "00414311" "00000" "Familial, X-linked" "42y" "night blindness, electroretinogram: non-recordable" "6y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306147" "04214" "00414312" "00000" "Familial, X-linked" "3y" "night blindness, electroretinogram: non-recordable" "3y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306154" "04214" "00414319" "00000" "Familial, X-linked" "59y" "first symptom: night blindness" "20y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306155" "04214" "00414320" "00000" "Familial, X-linked" "22y" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306156" "04214" "00414321" "00000" "Familial, X-linked" "80y" "first symptom: night blindness" "40y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306157" "04214" "00414322" "00000" "Familial, X-linked" "71y" "first symptom: visual loss" "60y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306158" "04214" "00414323" "00000" "Familial, X-linked" "70y" "first symptom: N/A" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306159" "04214" "00414324" "00000" "Familial, X-linked" "60y" "first symptom: night blindness" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306160" "04214" "00414325" "00000" "Familial, X-linked" "11y" "asymptomatic" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306161" "04214" "00414326" "00000" "Familial, X-linked" "72y" "first symptom: visual loss" "50y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306162" "04214" "00414327" "00000" "Familial, X-linked" "50y" "first symptom: night blindness" "47y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000306163" "04214" "00414328" "00000" "Familial, X-linked" "45y" "first symptom: night blindness" "20y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000310511" "04214" "00419224" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310512" "04214" "00419225" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310513" "04214" "00419226" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310514" "04214" "00419227" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310515" "04214" "00419228" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310516" "04214" "00419229" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310517" "04214" "00419230" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310518" "04214" "00419231" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310519" "04214" "00419232" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310520" "04214" "00419233" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310521" "04214" "00419234" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310522" "04214" "00419235" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310523" "04214" "00419236" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310524" "04214" "00419237" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310525" "04214" "00419238" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310526" "04214" "00419239" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310527" "04214" "00419240" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310528" "04214" "00419241" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310529" "04214" "00419242" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310530" "04214" "00419243" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310531" "04214" "00419244" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310532" "04214" "00419245" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310533" "04214" "00419246" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310534" "04214" "00419247" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310535" "04214" "00419248" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310536" "04214" "00419249" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310537" "04214" "00419250" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310538" "04214" "00419251" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310539" "04214" "00419252" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310540" "04214" "00419253" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310541" "04214" "00419254" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310542" "04214" "00419255" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310543" "04214" "00419256" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310544" "04214" "00419257" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310545" "04214" "00419258" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310546" "04214" "00419259" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310547" "04214" "00419260" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310548" "04214" "00419261" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310549" "04214" "00419262" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310550" "04214" "00419263" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310551" "04214" "00419264" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310552" "04214" "00419265" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310553" "04214" "00419266" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310554" "04214" "00419267" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310555" "04214" "00419268" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310556" "04214" "00419269" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310557" "04214" "00419270" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310558" "04214" "00419271" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310559" "04214" "00419272" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310560" "04214" "00419273" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310561" "04214" "00419274" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310562" "04214" "00419275" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310563" "04214" "00419276" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310564" "04214" "00419277" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310565" "04214" "00419278" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310566" "04214" "00419279" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310567" "04214" "00419280" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310568" "04214" "00419281" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310569" "04214" "00419282" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310570" "04214" "00419283" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310571" "04214" "00419284" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310572" "04214" "00419285" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310573" "04214" "00419286" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310574" "04214" "00419287" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310575" "04214" "00419288" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310576" "04214" "00419289" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310577" "04214" "00419290" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310578" "04214" "00419291" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310579" "04214" "00419292" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310580" "04214" "00419293" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310581" "04214" "00419294" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310582" "04214" "00419295" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310583" "04214" "00419296" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310584" "04214" "00419297" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310585" "04214" "00419298" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310586" "04214" "00419299" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310587" "04214" "00419300" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310588" "04214" "00419301" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310589" "04214" "00419302" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310590" "04214" "00419303" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310591" "04214" "00419304" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310592" "04214" "00419305" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310593" "04214" "00419306" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310594" "04214" "00419307" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310595" "04214" "00419308" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310596" "04214" "00419309" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310597" "04214" "00419310" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310598" "04214" "00419311" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310599" "04214" "00419312" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310600" "04214" "00419313" "00000" "Familial, X-linked" "" "grade 2 (moderate)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310601" "04214" "00419314" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310602" "04214" "00419315" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310603" "04214" "00419316" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310604" "04214" "00419317" "00000" "Familial, X-linked" "" "grade 3 (severe)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310605" "04214" "00419318" "00000" "Familial, X-linked" "" "grade 1 (mild)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310608" "04214" "00419322" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310609" "04214" "00419323" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310610" "04214" "00419324" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310611" "04214" "00419325" "00000" "Familial, X-linked" "" "phenotype: symptoms only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310612" "04214" "00419326" "00000" "Familial, X-linked" "" "phenotype: symptoms only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310613" "04214" "00419327" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310614" "04214" "00419328" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310615" "04214" "00419329" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310616" "04214" "00419330" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310617" "04214" "00419331" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310618" "04214" "00419332" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310619" "04214" "00419333" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310620" "04214" "00419334" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310621" "04214" "00419335" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310622" "04214" "00419336" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310623" "04214" "00419337" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310624" "04214" "00419338" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310625" "04214" "00419339" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310626" "04214" "00419340" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: Unknown" "" "" "" "" "" "" "" "" "" "Unknown" "" "" "0000310627" "04214" "00419341" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: Unknown" "" "" "" "" "" "" "" "" "" "Unknown" "" "" "0000310628" "04214" "00419342" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310629" "04214" "00419343" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310630" "04214" "00419344" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310631" "04214" "00419345" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310632" "04214" "00419346" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310633" "04214" "00419347" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310634" "04214" "00419348" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310635" "04214" "00419349" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310636" "04214" "00419350" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310637" "04214" "00419351" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310638" "04214" "00419352" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: Unknown" "" "" "" "" "" "" "" "" "" "Unknown" "" "" "0000310639" "04214" "00419353" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310640" "04214" "00419354" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310641" "04214" "00419355" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310642" "04214" "00419356" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310643" "04214" "00419357" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310644" "04214" "00419358" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310645" "04214" "00419359" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310646" "04214" "00419360" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310647" "04214" "00419361" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: Unknown" "" "" "" "" "" "" "" "" "" "Unknown" "" "" "0000310648" "04214" "00419362" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310649" "04214" "00419363" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: Unknown" "" "" "" "" "" "" "" "" "" "Unknown" "" "" "0000310650" "04214" "00419364" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: No affected males*" "" "" "" "" "" "" "" "" "" "No affected males*" "" "" "0000310651" "04214" "00419365" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310652" "04214" "00419366" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310653" "04214" "00419367" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310654" "04214" "00419368" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310655" "04214" "00419369" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310656" "04214" "00419370" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310657" "04214" "00419371" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310658" "04214" "00419372" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310659" "04214" "00419373" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310660" "04214" "00419374" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310661" "04214" "00419375" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310662" "04214" "00419376" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310663" "04214" "00419377" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310664" "04214" "00419378" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310665" "04214" "00419379" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310666" "04214" "00419380" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310667" "04214" "00419381" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310668" "04214" "00419382" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310669" "04214" "00419383" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310670" "04214" "00419384" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310671" "04214" "00419385" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310672" "04214" "00419386" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310673" "04214" "00419387" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310674" "04214" "00419388" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310675" "04214" "00419389" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310676" "04214" "00419390" "00000" "Familial, X-linked" "" "phenotype: symptoms only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310677" "04214" "00419391" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310678" "04214" "00419392" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310679" "04214" "00419393" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310680" "04214" "00419394" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310681" "04214" "00419395" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310682" "04214" "00419396" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310683" "04214" "00419397" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310684" "04214" "00419398" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310685" "04214" "00419399" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310686" "04214" "00419400" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310687" "04214" "00419401" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310688" "04214" "00419402" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310689" "04214" "00419403" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310690" "04214" "00419404" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310691" "04214" "00419405" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310692" "04214" "00419406" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310693" "04214" "00419407" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310694" "04214" "00419408" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310695" "04214" "00419409" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310696" "04214" "00419410" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310697" "04214" "00419411" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310698" "04214" "00419412" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310699" "04214" "00419413" "00000" "Familial, X-linked" "" "phenotype: symptoms only; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310700" "04214" "00419414" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310701" "04214" "00419415" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310702" "04214" "00419416" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310703" "04214" "00419417" "00000" "Familial, X-linked" "" "phenotype: symptoms only; diagnosis in affected male relatives: cone dystrophy" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000310704" "04214" "00419418" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310705" "04214" "00419419" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310706" "04214" "00419420" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310707" "04214" "00419421" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310708" "04214" "00419422" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310709" "04214" "00419423" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310710" "04214" "00419424" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310711" "04214" "00419425" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310712" "04214" "00419426" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310713" "04214" "00419427" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310714" "04214" "00419428" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310715" "04214" "00419429" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310716" "04214" "00419430" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310717" "04214" "00419431" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310718" "04214" "00419432" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310719" "04214" "00419433" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310720" "04214" "00419434" "00000" "Familial, X-linked" "" "phenotype: fundus signs only; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310721" "04214" "00419435" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310722" "04214" "00419436" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310723" "04214" "00419437" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310724" "04214" "00419438" "00000" "Familial, X-linked" "" "phenotype: not available; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310725" "04214" "00419439" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310726" "04214" "00419440" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310727" "04214" "00419441" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310728" "04214" "00419442" "00000" "Familial, X-linked" "" "phenotype: unaffected; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310729" "04214" "00419443" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310730" "04214" "00419444" "00000" "Familial, X-linked" "" "phenotype: symptoms and fundus signs; diagnosis in affected male relatives: cone- / cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "cone- / cone-rod dystrophy" "" "" "0000310731" "04214" "00419445" "00000" "Familial, X-linked" "54y" "night blindness; photophobia; no color vision defect; best corrected visual acuity right, left eye: 20/25, 20/32; spherical refractive error right, left eye: +0.50 ps, +0.75 ps" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310732" "04214" "00419446" "00000" "Familial, X-linked" "38y" "night blindness; photophobia; color vision defect; best corrected visual acuity right, left eye: 20/80, 20/80; spherical refractive error right, left eye: -2.5, -1.25" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310733" "04214" "00419447" "00000" "Familial, X-linked" "45y" "night blindness; photophobia; color vision defect; best corrected visual acuity right, left eye: 20/400, 20/400; spherical refractive error right, left eye: -6.75, -8.5" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310734" "04214" "00419448" "00000" "Familial, X-linked" "72y" "night blindness; photophobia; color vision defect; best corrected visual acuity right, left eye: 20/100, 20/400; spherical refractive error right, left eye: -14.75 preop, -15.75 preop" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000310735" "04214" "00419449" "00000" "Familial, X-linked" "37y" "night blindness; photophobia; color vision defect; best corrected visual acuity right, left eye: 20/200, 20/200; spherical refractive error right, left eye: -2.75, -1.75" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311004" "04214" "00419724" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311005" "04214" "00419725" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311006" "04214" "00419726" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311653" "04214" "00420405" "00000" "Familial, X-linked" "47y5m" "" "50y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311654" "04214" "00420406" "00000" "Familial, X-linked" "39y" "" "27y" "" "" "" "" "" "" "" "" "cone dystrophy" "" "" "0000311683" "04214" "00420435" "00000" "Familial, X-linked" "17y1m" "" "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311721" "04214" "00420473" "00000" "Familial, X-linked" "27y4m" "" "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311737" "04214" "00420489" "00000" "Familial, X-linked" "15y8m" "" "8y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311752" "04214" "00420504" "00000" "Familial, X-linked" "18y10m" "" "1y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311779" "04214" "00420531" "00000" "Familial, X-linked" "60y1m" "" "3y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311824" "04214" "00420576" "00000" "Familial, autosomal dominant" "48y4m" "" "21y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000317765" "04214" "00426610" "00000" "Familial, X-linked" ">45y" "blurred central vision, photophobia, and nyctalopia since childhood; fundus autofluorescence: bull\'s-eye maculopathy, no flecks, intraretinal pigment migration, retinal vessel attenuation, or optic nerve pallor; previously clinically diagnosed as having STGD1; retinal disease was reported in his brother and maternal grandfather; proband\'s mother had reported being asymptomatic but was found to exhibit decreased visual acuity, bull\'s-eye maculopathy in the right eye, and tapetal reflex in both eyes; mean qAF values: within the range observed in healthy eyes, lower than in many patients of the same age with" "<18y" "" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "Stargardt disease" "" "0000318071" "04214" "00426933" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000318072" "04214" "00426934" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000318073" "04214" "00426935" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000318074" "04214" "00426936" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000318079" "04214" "00426941" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000320362" "00112" "00429490" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320378" "00112" "00429506" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320416" "00112" "00429544" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320440" "00112" "00429568" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320487" "00112" "00429615" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320494" "00112" "00429622" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320505" "00112" "00429633" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320506" "04214" "00429634" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320510" "00112" "00429638" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320543" "00112" "00429671" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320549" "00112" "00429677" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320656" "00112" "00429784" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320736" "00112" "00429864" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320762" "00112" "00429890" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320839" "00112" "00429967" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320881" "00112" "00430009" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320928" "00112" "00430056" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320942" "00112" "00430070" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320973" "00112" "00430101" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320981" "00112" "00430109" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320997" "00112" "00430125" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000326637" "02156" "00436459" "04552" "Familial, X-linked" "" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "" "" "" "" "" "" "" "" "" "RP3" "Retinitis pigmentosa" "" "0000326638" "02156" "00436460" "04552" "Familial, X-linked" "" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "" "" "" "" "" "" "" "" "" "RP3" "Retinitis pigmentosa" "" "0000326639" "02156" "00436461" "04552" "Familial, X-linked" "" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "" "" "" "" "" "" "" "" "" "RP3" "Retinitis pigmentosa" "" "0000326640" "02156" "00436462" "04552" "Familial, X-linked" "" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "" "" "" "" "" "" "" "" "" "RP3" "Retinitis pigmentosa" "" "0000336202" "00198" "00447003" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336257" "00198" "00447058" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336260" "00198" "00447061" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336322" "00198" "00447123" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336325" "00198" "00447126" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336386" "00198" "00447187" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336491" "00198" "00447292" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336526" "00198" "00447327" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336646" "00198" "00447447" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336647" "00198" "00447448" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336648" "00198" "00447449" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336649" "00198" "00447450" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336650" "00198" "00447451" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336651" "00198" "00447452" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336653" "00198" "00447454" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336654" "00198" "00447455" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336656" "00198" "00447457" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336658" "00198" "00447459" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336659" "00198" "00447460" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336660" "00198" "00447461" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336661" "00198" "00447462" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336662" "00198" "00447463" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336664" "00198" "00447465" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336665" "00198" "00447466" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336666" "00198" "00447467" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336668" "00198" "00447469" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336671" "00198" "00447472" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336672" "00198" "00447473" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336673" "00198" "00447474" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336674" "00198" "00447475" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336675" "00198" "00447476" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336677" "00198" "00447478" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336678" "00198" "00447479" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336680" "00198" "00447481" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000336685" "00198" "00447486" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "" "0000336698" "00198" "00447499" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336703" "00198" "00447504" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336720" "00198" "00447521" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000336844" "00198" "00447645" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, X-linked" "" "0000340057" "04249" "00451002" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340058" "04249" "00451003" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340059" "04249" "00451004" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000340060" "04249" "00451005" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000340061" "04249" "00451006" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000340062" "04249" "00451007" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1764 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000005" "00000005" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000057" "00000057" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000000231" "00000225" "1" "00041" "00041" "2012-10-28 22:41:36" "" "" "SEQ" "DNA" "" "" "0000000235" "00000229" "1" "00041" "00041" "2012-10-28 22:49:10" "" "" "SEQ" "DNA" "" "" "0000001585" "00001782" "1" "00102" "00102" "2013-08-08 17:21:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000001600" "00001797" "1" "00102" "00102" "2013-08-08 19:25:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000001603" "00001800" "1" "00102" "00102" "2013-08-08 19:40:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000032885" "00032817" "1" "00124" "00124" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032886" "00032818" "1" "00124" "00124" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032887" "00032819" "1" "00124" "00124" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032888" "00032820" "1" "00124" "00124" "2009-10-28 15:09:48" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032889" "00032821" "1" "00124" "00124" "2009-10-28 15:09:48" "00006" 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"" "" "SEQ" "DNA" "" "" "0000328390" "00327178" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328391" "00327179" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328392" "00327180" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328393" "00327181" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328394" "00327182" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328395" "00327183" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328396" "00327184" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328397" "00327185" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328398" "00327186" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328399" "00327187" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328400" "00327188" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328401" "00327189" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328402" "00327190" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328403" "00327191" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328404" "00327192" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328405" "00327193" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328406" "00327194" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328407" "00327195" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328408" "00327196" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328409" "00327197" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328410" "00327198" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000328411" "00327199" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000328412" "00327200" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000328413" "00327201" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328414" "00327202" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328415" "00327203" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328416" "00327204" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328417" "00327205" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328418" "00327206" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328419" "00327207" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328420" "00327208" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328421" "00327209" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328422" "00327210" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328423" "00327211" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328424" "00327212" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328425" "00327213" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328426" "00327214" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328427" "00327215" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328428" "00327216" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328429" "00327217" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328430" "00327218" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328431" "00327219" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328432" "00327220" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328433" "00327221" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328434" "00327222" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328435" "00327223" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328436" "00327224" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328437" "00327225" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328438" "00327226" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328439" "00327227" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328440" "00327228" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328441" "00327229" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328442" "00327230" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328443" "00327231" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328444" "00327232" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328445" "00327233" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328446" "00327234" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328447" "00327235" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328448" "00327236" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328449" "00327237" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328450" "00327238" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328451" "00327239" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328452" "00327240" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328453" "00327241" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328454" "00327242" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328455" "00327243" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328456" "00327244" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328457" "00327245" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328458" "00327246" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328459" "00327247" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328460" "00327248" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328461" "00327249" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328462" "00327250" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328463" "00327251" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328464" "00327252" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328465" "00327253" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328466" "00327254" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328467" "00327255" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328468" "00327256" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328469" "00327257" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328470" "00327258" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328471" "00327259" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000328472" "00327260" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328473" "00327261" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000328474" "00327262" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000328475" "00327263" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328476" "00327264" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328477" "00327265" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328478" "00327266" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328479" "00327267" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328480" "00327268" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328481" "00327269" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328482" "00327270" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328483" "00327271" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328484" "00327272" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328485" "00327273" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328486" "00327274" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328487" "00327275" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328488" "00327276" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328489" "00327277" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328490" "00327278" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328491" "00327279" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328492" "00327280" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328493" "00327281" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000328494" "00327282" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328495" "00327283" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328496" "00327284" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SSCA;SEQ" "DNA" "" "" "0000328497" "00327285" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328498" "00327286" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328499" "00327287" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000328500" "00327288" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "PCR;SEQ" "DNA" "" "" "0000328501" "00327289" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328502" "00327290" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328503" "00327291" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328504" "00327292" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328505" "00327293" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328506" "00327294" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328507" "00327295" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328508" "00327296" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328509" "00327297" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328510" "00327298" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328511" "00327299" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328512" "00327300" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328513" "00327301" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328514" "00327302" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328515" "00327303" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328516" "00327304" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328517" "00327305" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328518" "00327306" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328519" "00327307" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328520" "00327308" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328521" "00327309" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328522" "00327310" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328523" "00327311" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328524" "00327312" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328525" "00327313" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000328526" "00327314" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328527" "00327315" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328528" "00327316" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328529" "00327317" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328530" "00327318" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328531" "00327319" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328532" "00327320" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328533" "00327321" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328534" "00327322" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328535" "00327323" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328536" "00327324" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328537" "00327325" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328538" "00327326" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328539" "00327327" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328540" "00327328" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328541" "00327329" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328542" "00327330" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328543" "00327331" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328544" "00327332" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328545" "00327333" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328546" "00327334" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328547" "00327335" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328548" "00327336" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328549" "00327337" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328550" "00327338" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328551" "00327339" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328552" "00327340" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328553" "00327341" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328554" "00327342" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328555" "00327343" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328556" "00327344" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328557" "00327345" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000328558" "00327346" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328559" "00327347" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328560" "00327348" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328561" "00327349" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328562" "00327350" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328563" "00327351" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328564" "00327352" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328565" "00327353" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328566" "00327354" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328567" "00327355" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328568" "00327356" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328569" "00327357" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328570" "00327358" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328571" "00327359" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328572" "00327360" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328573" "00327361" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328574" "00327362" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328575" "00327363" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328576" "00327364" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328577" "00327365" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328578" "00327366" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328579" "00327367" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328580" "00327368" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328581" "00327369" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328582" "00327370" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328583" "00327371" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328584" "00327372" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328585" "00327373" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328586" "00327374" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328587" "00327375" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328588" "00327376" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328589" "00327377" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328590" "00327378" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328591" "00327379" "1" "00000" "00006" "2021-01-20 09:07:13" "" "" "SEQ" "DNA" "" "" "0000328680" "00327466" "1" "00006" "00006" "2021-01-22 09:07:06" "" "" "SEQ;SSCA" "DNA" "" "" "0000328681" "00327467" "1" "00006" "00006" "2021-01-22 09:31:18" "" "" "SEQ;SSCA" "DNA" "" "" "0000328682" "00327468" "1" "00006" "00006" "2021-01-22 09:37:04" "" "" "SEQ;SSCA" "DNA" "" "" "0000328683" "00327469" "1" "00006" "00006" "2021-01-22 09:42:59" "" "" "SEQ" "DNA" "" "" "0000329124" "00327909" "1" "00000" "00006" "2021-01-27 12:00:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000329138" "00327923" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329142" "00327927" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329146" "00327931" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329163" "00327948" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329192" "00327977" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329316" "00328101" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329326" "00328111" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329380" "00328165" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329452" "00328237" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329461" "00328246" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329488" "00328273" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329528" "00328313" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329578" "00328364" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329579" "00328365" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329580" "00328366" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329581" "00328367" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329582" "00328368" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329583" "00328369" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329584" "00328370" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329585" "00328371" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329586" "00328372" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329587" "00328373" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329699" "00328484" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329700" "00328485" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000329769" "00328553" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329770" "00328554" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329771" "00328555" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329772" "00328556" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329773" "00328557" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329774" "00328558" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329775" "00328559" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329776" "00328560" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329777" "00328561" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329778" "00328562" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329779" "00328563" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329780" "00328564" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329781" "00328565" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329782" "00328566" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329783" "00328567" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329784" "00328568" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329785" "00328569" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329786" "00328570" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329787" "00328571" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329788" "00328572" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329789" "00328573" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329790" "00328574" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329791" "00328575" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329792" "00328576" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329793" "00328577" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329794" "00328578" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329795" "00328579" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329796" "00328580" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329797" "00328581" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329798" "00328582" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329799" "00328583" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329800" "00328584" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329801" "00328585" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329802" "00328586" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329803" "00328587" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329804" "00328588" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329805" "00328589" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329806" "00328590" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329807" "00328591" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329808" "00328592" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329809" "00328593" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329810" "00328594" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329811" "00328595" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329812" "00328596" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329813" "00328597" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329814" "00328598" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329815" "00328599" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329816" "00328600" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329817" "00328601" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329818" "00328602" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329819" "00328603" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329820" "00328604" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329821" "00328605" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329822" "00328606" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329823" "00328607" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329824" "00328608" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329825" "00328609" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329826" "00328610" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329827" "00328611" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329828" "00328612" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329829" "00328613" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329830" "00328614" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329831" "00328615" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329832" "00328616" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329833" "00328617" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329834" "00328618" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329835" "00328619" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329836" "00328620" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329837" "00328621" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329838" "00328622" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329839" "00328623" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000329840" "00328624" "1" "00000" "00006" 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"2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000330017" "00328801" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000330018" "00328802" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000330019" "00328803" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000330020" "00328804" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000330021" "00328805" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000330022" "00328806" "1" "00000" "00006" "2021-01-29 14:42:49" "" "" "SEQ" "DNA" "" "" "0000332492" "00331272" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel" "0000332493" "00331273" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel" "0000332510" "00331290" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel" "0000332519" "00331300" "1" "00000" "00006" "2021-02-11 11:33:52" "" "" "SEQ" "DNA" "" "" "0000332520" "00331301" "1" "00000" "00006" "2021-02-11 11:33:52" "" "" "SEQ" "DNA" "" "" "0000333270" "00332051" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333776" "00332552" "1" "01807" "01807" "2021-02-22 10:18:01" "" "" "SEQ" "DNA" "" "" "0000334582" "00333357" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334583" "00333358" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334619" "00333394" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334637" "00333412" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334698" "00333473" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000334750" "00333524" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334751" "00333525" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334752" "00333526" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334753" "00333527" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334761" "00333535" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334762" "00333536" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334763" "00333537" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334764" "00333538" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334765" "00333539" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334766" "00333540" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334767" "00333541" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334768" "00333542" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334769" "00333543" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334770" "00333544" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334771" "00333545" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334772" "00333546" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334773" "00333547" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334774" "00333548" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334775" "00333549" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334776" "00333550" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334777" "00333551" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334778" "00333552" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334779" "00333553" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334780" "00333554" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334781" "00333555" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334782" "00333556" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334783" "00333557" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334784" "00333558" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334785" "00333559" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334786" "00333560" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334787" "00333561" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334788" "00333562" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334789" "00333563" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334790" "00333564" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334807" "00333581" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334808" "00333582" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334838" "00333612" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334839" "00333613" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334840" "00333614" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334841" "00333615" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334845" "00333619" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334846" "00333620" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334847" "00333621" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334848" "00333622" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334849" "00333623" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334850" "00333624" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335082" "00333856" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335083" "00333857" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335666" "00334437" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335667" "00334438" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335668" "00334439" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335803" "00334574" "1" "00000" "00006" "2021-03-01 15:50:09" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000336389" "00335160" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336390" "00335161" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336391" "00335162" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336392" "00335163" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336393" "00335164" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336394" "00335165" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336395" "00335166" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336396" "00335167" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336482" "00335253" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000336545" "00335316" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336546" "00335317" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336547" "00335318" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336552" "00335323" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336553" "00335324" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336652" "00335423" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336658" "00335429" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336728" "00335499" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel" "0000336729" "00335500" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel" "0000336730" "00335501" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel" "0000336731" "00335502" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel" "0000336946" "00335718" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336947" "00335719" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000359971" "00358741" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359972" "00358742" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359973" "00358743" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000359974" "00358744" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360022" "00358792" "1" "00000" "00006" "2021-03-12 09:26:03" "" "" "SEQ-NG" "DNA" "" "226-gene panel" "0000360025" "00358795" "1" "00000" "00006" "2021-03-12 09:26:03" "" "" "SEQ-NG" "DNA" "" "226-gene panel" "0000360199" "00358962" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360200" "00358963" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360201" "00358964" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360280" "00359042" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360363" "00359125" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360378" "00359140" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360407" "00359169" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360427" "00359189" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360436" "00359198" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360458" "00359220" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360605" "00359363" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel" "0000360610" "00359368" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel" "0000362654" "00361426" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000363830" "00362602" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363831" "00362603" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363832" "00362604" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363833" "00362605" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363834" "00362606" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363835" "00362607" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363836" "00362608" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363837" "00362609" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363838" "00362610" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363839" "00362611" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363840" "00362612" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363841" "00362613" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363842" "00362614" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363843" "00362615" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363844" "00362616" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363845" "00362617" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363846" "00362618" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363847" "00362619" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363848" "00362620" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363849" "00362621" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363850" "00362622" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363851" "00362623" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363852" "00362624" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363853" "00362625" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363854" "00362626" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363855" "00362627" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363856" "00362628" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363857" "00362629" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363858" "00362630" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363859" "00362631" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363860" "00362632" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363861" "00362633" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363862" "00362634" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363863" "00362635" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363864" "00362636" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363865" "00362637" "1" "00008" "00008" "2021-04-22 15:23:44" "00001" "2022-05-25 16:22:11" "SEQ" "DNA" "blood" "" "0000363867" "00362639" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363868" "00362640" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363869" "00362641" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363870" "00362642" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363871" "00362643" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363872" "00362644" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363873" "00362645" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363874" "00362646" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363875" "00362647" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363876" "00362648" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000363877" "00362649" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" "" "0000364165" "00362937" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364166" "00362938" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000364416" "00363188" "1" "01807" "01807" "2021-04-26 10:22:01" "" "" "SEQ" "DNA" "" "" "0000364584" "00363356" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364585" "00363357" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364586" "00363358" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364608" "00363380" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364609" "00363381" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364626" "00363398" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364627" "00363399" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364698" "00363470" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000364699" "00363471" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000364700" "00363472" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000373292" "00372064" "1" "00000" "00006" "2021-05-06 16:52:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000373741" "00372508" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373858" "00372626" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373910" "00372678" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373911" "00372679" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373912" "00372680" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373913" "00372681" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373914" "00372682" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373915" "00372683" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373916" "00372684" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373973" "00372741" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374592" "00373357" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX" "0000374594" "00373359" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX" "0000374652" "00373417" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "arraySNP;SEQ" "DNA" "" "" "0000374707" "00373472" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000374754" "00373519" "1" "00000" "00006" "2021-05-15 17:36:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000374755" "00373520" "1" "00000" "00006" "2021-05-15 17:36:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000375036" "00373804" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000375095" "00373863" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375106" "00373874" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375140" "00373908" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375141" "00373909" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375171" "00373939" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375178" "00373946" "1" "00000" "00006" "2021-05-21 15:48:04" "" "" "SEQ-NG" "DNA" "" "" "0000375179" "00373947" "1" "00000" "00006" "2021-05-21 15:48:04" "" "" "SEQ-NG" "DNA" "" "" "0000375180" "00373948" "1" "00000" "00006" "2021-05-21 15:48:04" "" "" "SEQ-NG" "DNA" "" "" "0000375183" "00373951" "1" "00000" "00006" "2021-05-21 15:48:04" "" "" "SEQ-NG" "DNA" "" "" "0000376088" "00374894" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376109" "00374915" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376128" "00374934" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376180" "00374986" "1" "00006" "00006" "2021-05-27 18:28:24" "" "" "SEQ" "DNA" "" "" "0000376512" "00375315" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376513" "00375316" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376514" "00375317" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376515" "00375318" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376540" "00375343" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376614" "00375417" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377384" "00376188" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377442" "00376246" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377443" "00376247" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377444" "00376248" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377445" "00376249" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377446" "00376250" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377447" "00376251" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377448" "00376252" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377449" "00376253" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377450" "00376254" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377451" "00376255" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377452" "00376256" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377453" "00376257" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377454" "00376258" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377455" "00376259" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377456" "00376260" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377457" "00376261" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377458" "00376262" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377459" "00376263" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377460" "00376264" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377461" "00376265" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377462" "00376266" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377463" "00376267" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377464" "00376268" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377465" "00376269" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377466" "00376270" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377467" "00376271" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377468" "00376272" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377469" "00376273" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377470" "00376274" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377471" "00376275" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377472" "00376276" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377473" "00376277" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "PCR" "DNA" "blood" "" "0000377486" "00376290" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000377487" "00376291" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000377488" "00376292" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000377492" "00376296" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000377894" "00376688" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377895" "00376689" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377896" "00376690" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377897" "00376691" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377898" "00376692" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377899" "00376693" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377900" "00376694" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377901" "00376695" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377902" "00376696" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377903" "00376697" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377904" "00376698" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377905" "00376699" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377906" "00376700" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377907" "00376701" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377908" "00376702" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377909" "00376703" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377910" "00376704" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377911" "00376705" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377912" "00376706" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377913" "00376707" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377914" "00376708" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "SEQ" "DNA" "bood" "" "0000377939" "00376733" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377940" "00376734" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377942" "00376736" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377943" "00376737" "1" "00000" "00008" "2021-06-25 10:31:56" "" "" "?" "DNA" "" "described in Robson 2003" "0000377954" "00376748" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377975" "00376769" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377982" "00376776" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377991" "00376785" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377992" "00376786" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378017" "00376812" "1" "00000" "00006" "2021-06-25 15:49:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000378018" "00376813" "1" "00000" "00006" "2021-06-25 15:49:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000378024" "00376819" "1" "00000" "00006" "2021-06-25 15:49:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000378025" "00376820" "1" "00000" "00006" "2021-06-25 15:49:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000378192" "00376987" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "" "" "0000378193" "00376988" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "" "" "0000378194" "00376989" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "" "" "0000378195" "00376990" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "SEQ" "DNA" "" "" "0000378376" "00377171" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378377" "00377172" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378378" "00377173" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378379" "00377174" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378380" "00377175" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378381" "00377176" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378424" "00377219" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378425" "00377220" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378426" "00377221" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378434" "00377229" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378435" "00377230" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378436" "00377231" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378440" "00377235" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378441" "00377236" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378442" "00377237" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378443" "00377238" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378456" "00377251" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378458" "00377253" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378459" "00377254" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378460" "00377255" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378696" "00377493" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378697" "00377494" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378698" "00377495" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378699" "00377496" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378723" "00377520" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing" "0000378927" "00377723" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "Lymphoblast" "" "0000378928" "00377724" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "Lymphoblast" "" "0000379155" "00377951" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000379211" "00378007" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379212" "00378008" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379227" "00378026" "1" "03508" "03508" "2021-08-03 08:21:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000379235" "00378034" "1" "03508" "03508" "2021-08-03 10:09:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000380544" "00379344" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000380545" "00379345" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000380546" "00379346" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ;RT-PCR" "DNA;RNA" "blood" "" "0000380668" "00379468" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380669" "00379469" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380670" "00379470" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380671" "00379471" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380672" "00379472" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380673" "00379473" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380674" "00379474" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380675" "00379475" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380676" "00379476" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380677" "00379477" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380729" "00379529" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000380732" "00379532" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000380739" "00379539" "1" "03508" "03508" "2021-08-05 08:16:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000380757" "00379558" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000380770" "00379571" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000380774" "00379575" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000380836" "00379637" "1" "03508" "03508" "2021-08-06 04:30:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000380878" "00379677" "1" "03508" "03508" "2021-08-06 09:34:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000380886" "00379685" "1" "03508" "03508" "2021-08-06 10:22:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000380904" "00379702" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000380905" "00379703" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000381083" "00379881" "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" "0000381084" "00379882" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381085" "00379883" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381086" "00379884" "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" "0000381087" "00379885" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381088" "00379886" "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" "0000381089" "00379887" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381090" "00379888" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381091" "00379889" "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" "0000381092" "00379890" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381093" "00379891" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381094" "00379892" "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" "0000381095" "00379893" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381096" "00379894" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ" "DNA" "" "negative panel patients sequenced for RPGR" "0000381354" "00380152" "1" "03508" "03508" "2021-08-10 10:06:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000381363" "00380161" "1" "03508" "03508" "2021-08-10 11:07:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000381399" "00380197" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381400" "00380198" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381401" "00380199" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000382051" "00380837" "1" "00000" "03840" "2021-08-23 12:17:56" "" "" "SEQ-NG-I" "DNA" "blood" "AmpliSeqTM Inherited Disease Panel covering 325 genes" "0000382161" "00380947" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382162" "00380948" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382163" "00380949" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382164" "00380950" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382165" "00380951" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382166" "00380952" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382167" "00380953" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382168" "00380954" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382169" "00380955" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382170" "00380956" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382171" "00380957" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382172" "00380958" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382173" "00380959" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382174" "00380960" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382175" "00380961" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382176" "00380962" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382177" "00380963" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382178" "00380964" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382179" "00380965" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382180" "00380966" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382181" "00380967" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382182" "00380968" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382183" "00380969" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382184" "00380970" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382185" "00380971" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382186" "00380972" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382189" "00380975" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382190" "00380976" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382191" "00380977" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382192" "00380978" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382193" "00380979" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382194" "00380980" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382195" "00380981" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382196" "00380982" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382197" "00380983" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382198" "00380984" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382199" "00380985" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382200" "00380986" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382201" "00380987" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382202" "00380988" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382203" "00380989" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382204" "00380990" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382205" "00380991" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382206" "00380992" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382207" "00380993" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "Subcloning" "0000382234" "00381020" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySEQ;SEQ;PCR" "DNA" "blood" "" "0000382452" "00381237" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382867" "00381651" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382882" "00381666" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382912" "00381696" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382923" "00381707" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382925" "00381709" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382998" "00381782" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382999" "00381783" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383000" "00381784" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383001" "00381785" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383002" "00381786" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383003" "00381787" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383004" "00381788" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383133" "00381917" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ" "DNA" "blood" "" "0000383134" "00381918" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383135" "00381919" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383136" "00381920" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383137" "00381921" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383138" "00381922" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383139" "00381923" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383140" "00381924" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383141" "00381925" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383142" "00381926" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383143" "00381927" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383144" "00381928" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383438" "00382224" "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" "0000383638" "00382424" "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" "0000383639" "00382425" "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" "0000383640" "00382426" "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" "0000383641" "00382427" "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" "0000383642" "00382428" "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" "0000383643" "00382429" "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" "0000383644" "00382430" "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" "0000383645" "00382431" "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" "0000383646" "00382432" "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" "0000383647" "00382433" "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" "0000383648" "00382434" "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" "0000383649" "00382435" "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" "0000383650" "00382436" "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" "0000383651" "00382437" "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" "0000383652" "00382438" "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" "0000383690" "00382476" "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" "0000383815" "00382601" "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" "0000383867" "00382653" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved: single allele variant in autosomal recessive disease" "0000384013" "00382797" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" "" "0000385051" "00383826" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385052" "00383827" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385053" "00383828" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385054" "00383829" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385484" "00384259" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385544" "00384319" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385570" "00384345" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385650" "00384425" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385698" "00384473" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385733" "00384508" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385854" "00384626" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000386255" "00385026" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386275" "00385046" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386277" "00385048" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386647" "00385418" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386648" "00385419" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386649" "00385420" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000386968" "00385740" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 2 containing 316 genes" "0000386969" "00385741" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Whole exome sequencing" "0000386970" "00385742" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 6 containing 386 genes" "0000387054" "00385826" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387055" "00385827" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387056" "00385828" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387057" "00385829" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387058" "00385830" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387059" "00385831" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387060" "00385832" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387061" "00385833" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387062" "00385834" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387063" "00385835" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387064" "00385836" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387065" "00385837" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387066" "00385838" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387067" "00385839" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387068" "00385840" "1" "00000" "03840" "2021-10-15 23:06:55" "" "" "SEQ-NG;SEQ" "DNA" "blood" "after negative whole exome sequencing" "0000387411" "00386182" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387412" "00386183" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387413" "00386184" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387414" "00386185" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387432" "00386203" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387448" "00386219" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387449" "00386220" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387496" "00386267" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387497" "00386268" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387513" "00386284" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387514" "00386285" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387515" "00386286" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387522" "00386293" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387523" "00386294" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387524" "00386295" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387525" "00386296" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387771" "00386543" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387772" "00386544" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387778" "00386550" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387780" "00386552" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387783" "00386555" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" "" "0000387818" "00386590" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387819" "00386591" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387825" "00386597" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387826" "00386598" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387835" "00386607" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387853" "00386625" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387865" "00386637" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387878" "00386650" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387887" "00386659" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388015" "00386787" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388030" "00386802" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388046" "00386818" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388050" "00386822" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388061" "00386833" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388062" "00386834" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388077" "00386849" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388358" "00387132" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388359" "00387133" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388360" "00387134" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388361" "00387135" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388362" "00387136" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388363" "00387137" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388364" "00387138" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388365" "00387139" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388366" "00387140" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388367" "00387141" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388368" "00387142" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388629" "00387403" "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" "0000388849" "00387623" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388858" "00387632" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388896" "00387670" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388897" "00387671" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388898" "00387672" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000389806" "00388564" "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" "0000389964" "00388721" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390007" "00388764" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390062" "00388819" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390063" "00388820" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390064" "00388821" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390071" "00388828" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390119" "00388876" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390120" "00388877" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390121" "00388878" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390161" "00388918" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390211" "00388968" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000390214" "00388971" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390230" "00388987" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390239" "00388996" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390240" "00388997" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390250" "00389007" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390251" "00389008" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390255" "00389012" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390258" "00389015" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390262" "00389019" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390268" "00389025" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390273" "00389030" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390274" "00389031" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390275" "00389032" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390276" "00389033" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390282" "00389039" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390283" "00389040" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390289" "00389046" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390290" "00389047" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390293" "00389050" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390296" "00389053" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390298" "00389055" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390306" "00389063" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390307" "00389064" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390311" "00389068" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390316" "00389073" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390317" "00389074" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390321" "00389078" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390325" "00389082" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390332" "00389089" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390343" "00389100" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390353" "00389110" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390354" "00389111" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390355" "00389112" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390356" "00389113" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390362" "00389119" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390365" "00389122" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390369" "00389126" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390373" "00389130" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390374" "00389131" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390375" "00389132" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390383" "00389140" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390384" "00389141" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390389" "00389146" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390392" "00389149" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390393" "00389150" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390399" "00389156" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390401" "00389158" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390402" "00389159" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390404" "00389161" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390405" "00389162" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390406" "00389163" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390409" "00389166" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390410" "00389167" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390413" "00389170" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390414" "00389171" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390417" "00389174" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390418" "00389175" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390419" "00389176" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390425" "00389182" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390426" "00389183" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390429" "00389186" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390430" "00389187" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390432" "00389189" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390434" "00389191" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390443" "00389200" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390446" "00389203" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390447" "00389204" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390452" "00389209" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390458" "00389215" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390462" "00389219" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390463" "00389220" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390464" "00389221" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390465" "00389222" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390466" "00389223" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390467" "00389224" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390468" "00389225" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390469" "00389226" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390470" "00389227" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390471" "00389228" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390473" "00389230" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390475" "00389232" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390477" "00389234" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390480" "00389237" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390482" "00389239" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390483" "00389240" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390484" "00389241" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390485" "00389242" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390486" "00389243" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390488" "00389245" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390496" "00389253" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390497" "00389254" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390505" "00389262" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390510" "00389267" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390520" "00389277" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390524" "00389281" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390527" "00389284" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390529" "00389286" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390530" "00389287" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390532" "00389289" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390536" "00389293" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390538" "00389295" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390542" "00389299" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390551" "00389308" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390553" "00389310" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390561" "00389318" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390564" "00389321" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390569" "00389326" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390572" "00389329" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390575" "00389332" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390580" "00389337" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390585" "00389342" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000391633" "00390392" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391634" "00390393" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391635" "00390394" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391636" "00390395" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391637" "00390396" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391638" "00390397" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391639" "00390398" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391640" "00390399" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392053" "00390812" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ-NG;SEQ" "DNA" "blood" "WES" "0000392054" "00390813" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCR;SEQ-NG;SEQ" "DNA" "blood" "WES" "0000392092" "00390851" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392136" "00390895" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392137" "00390896" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392146" "00390905" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392155" "00390914" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392451" "00391209" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392452" "00391210" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392453" "00391211" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392468" "00391226" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392476" "00391234" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392478" "00391236" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392484" "00391242" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392508" "00391266" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392524" "00391282" "1" "00000" "03840" "2021-11-15 13:26:54" "" "" "?" "DNA" "" "retrospective study" "0000392779" "00391537" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392780" "00391538" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392781" "00391539" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392782" "00391540" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392783" "00391541" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392784" "00391542" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000393376" "00392134" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393377" "00392135" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393378" "00392136" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393401" "00392159" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393402" "00392160" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393403" "00392161" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393574" "00392332" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG;PCRq" "DNA" "blood" "gene panel testing and qualitative PCR" "0000393621" "00392379" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393622" "00392380" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393627" "00392385" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG;SEQ" "DNA" "blood" "gene panel testing and Sanger sequencing" "0000393878" "00392631" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393879" "00392632" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394635" "00393387" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394636" "00393388" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394637" "00393389" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394638" "00393390" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394639" "00393391" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394640" "00393392" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394689" "00393441" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394694" "00393446" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394699" "00393451" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394720" "00393472" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394757" "00393509" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394759" "00393511" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394760" "00393512" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394767" "00393519" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394772" "00393524" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394780" "00393532" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394789" "00393541" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394796" "00393548" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394798" "00393550" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394821" "00393573" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394836" "00393588" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394867" "00393619" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394883" "00393635" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394902" "00393654" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394905" "00393657" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394909" "00393661" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394958" "00393710" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394970" "00393722" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394976" "00393728" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000394988" "00393740" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394994" "00393746" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394997" "00393749" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395000" "00393752" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395008" "00393760" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395009" "00393761" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395018" "00393770" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395020" "00393772" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395034" "00393786" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395037" "00393789" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395069" "00393821" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395089" "00393841" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395124" "00393876" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395130" "00393882" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395132" "00393884" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ" "DNA" "" "" "0000395133" "00393885" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000396015" "00394768" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396016" "00394769" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396017" "00394770" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396018" "00394771" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396019" "00394772" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396020" "00394773" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396021" "00394774" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396022" "00394775" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396023" "00394776" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396024" "00394777" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396025" "00394778" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396026" "00394779" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396027" "00394780" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396028" "00394781" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396029" "00394782" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396030" "00394783" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396031" "00394784" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396032" "00394785" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396033" "00394786" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396851" "00395613" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000397094" "00395855" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397108" "00395869" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397109" "00395870" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397137" "00395898" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397138" "00395899" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397149" "00395910" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397174" "00395935" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397182" "00395943" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397195" "00395956" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397196" "00395957" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397197" "00395958" "1" "00000" "03840" "2021-12-09 15:06:13" "" "" "SEQ-NG" "DNA" "blood" "retrospective study" "0000397666" "00396425" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000397731" "00396488" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies" "0000397768" "00396525" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397769" "00396526" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397772" "00396529" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397775" "00396532" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397819" "00396576" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397871" "00396628" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397891" "00396648" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398828" "00397589" "1" "00000" "03840" "2021-12-26 19:07:26" "" "" "SEQ" "DNA" "blood" "" "0000398829" "00397590" "1" "00000" "03840" "2021-12-26 19:07:26" "" "" "SEQ" "DNA" "blood" "" "0000404501" "00403260" "1" "00000" "00008" "2022-02-18 11:06:34" "" "" "SEQ-NG" "DNA" "" "" "0000405429" "00404191" "1" "00000" "00008" "2022-02-28 03:03:50" "" "" "SEQ;RT-PCR;SSCA" "DNA;RNA" "blood" "" "0000409592" "00408335" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409593" "00408336" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409594" "00408337" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409595" "00408338" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409596" "00408339" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409597" "00408340" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409598" "00408341" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409599" "00408342" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409600" "00408343" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409601" "00408344" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409602" "00408345" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409603" "00408346" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409604" "00408347" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409605" "00408348" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409606" "00408349" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409607" "00408350" "1" "00000" "03840" "2022-04-20 15:25:39" "" "" "?" "DNA" "" "" "0000409674" "00408417" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000409675" "00408418" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000409676" "00408419" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000409680" "00408423" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000414731" "00413265" "1" "00000" "03840" "2022-07-18 18:21:53" "03840" "2022-07-18 18:34:15" "SEQ" "DNA" "blood" "second screening of the same family after phenotype re-evaluation" "0000414732" "00413266" "1" "00000" "03840" "2022-07-18 18:38:24" "" "" "SEQ" "DNA" "blood" "additional screening in Mahroo et al., 2019" "0000415586" "00414306" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415587" "00414307" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415588" "00414308" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415589" "00414309" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415590" "00414310" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415591" "00414311" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415592" "00414312" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415599" "00414319" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415600" "00414320" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415601" "00414321" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415602" "00414322" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415603" "00414323" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415604" "00414324" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415605" "00414325" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415606" "00414326" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415607" "00414327" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000415608" "00414328" "1" "00000" "03840" "2022-07-28 13:02:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "111-gene panel targeted resequencing" "0000418870" "00417575" "1" "01741" "01741" "2022-09-20 12:07:03" "" "" "SEQ-NG" "DNA" "" "" "0000420528" "00419224" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420529" "00419225" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420530" "00419226" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420531" "00419227" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420532" "00419228" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420533" "00419229" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420534" "00419230" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420535" "00419231" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420536" "00419232" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420537" "00419233" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420538" "00419234" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420539" "00419235" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420540" "00419236" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420541" "00419237" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420542" "00419238" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420543" "00419239" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420544" "00419240" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420545" "00419241" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420546" "00419242" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420547" "00419243" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420548" "00419244" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420549" "00419245" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420550" "00419246" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420551" "00419247" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420552" "00419248" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420553" "00419249" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420554" "00419250" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420555" "00419251" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420556" "00419252" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420557" "00419253" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420558" "00419254" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420559" "00419255" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420560" "00419256" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420561" "00419257" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420562" "00419258" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420563" "00419259" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420564" "00419260" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420565" "00419261" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420566" "00419262" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420567" "00419263" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420568" "00419264" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420569" "00419265" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420570" "00419266" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420571" "00419267" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420572" "00419268" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420573" "00419269" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420574" "00419270" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420575" "00419271" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420576" "00419272" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420577" "00419273" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420578" "00419274" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420579" "00419275" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420580" "00419276" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420581" "00419277" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420582" "00419278" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420583" "00419279" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420584" "00419280" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420585" "00419281" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420586" "00419282" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420587" "00419283" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420588" "00419284" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420589" "00419285" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420590" "00419286" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420591" "00419287" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420592" "00419288" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420593" "00419289" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420594" "00419290" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420595" "00419291" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420596" "00419292" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420597" "00419293" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420598" "00419294" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420599" "00419295" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420600" "00419296" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420601" "00419297" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420602" "00419298" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420603" "00419299" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420604" "00419300" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420605" "00419301" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420606" "00419302" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420607" "00419303" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420608" "00419304" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420609" "00419305" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420610" "00419306" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420611" "00419307" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420612" "00419308" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420613" "00419309" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420614" "00419310" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420615" "00419311" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420616" "00419312" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420617" "00419313" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420618" "00419314" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420619" "00419315" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420620" "00419316" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420621" "00419317" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420622" "00419318" "1" "00000" "03840" "2022-10-19 14:32:28" "" "" "SEQ" "DNA" "" "" "0000420625" "00419322" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420626" "00419323" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420627" "00419324" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420628" "00419325" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420629" "00419326" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420630" "00419327" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420631" "00419328" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420632" "00419329" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420633" "00419330" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420634" "00419331" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420635" "00419332" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420636" "00419333" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420637" "00419334" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420638" "00419335" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420639" "00419336" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420640" "00419337" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420641" "00419338" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420642" "00419339" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420643" "00419340" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420644" "00419341" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420645" "00419342" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420646" "00419343" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420647" "00419344" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420648" "00419345" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420649" "00419346" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420650" "00419347" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420651" "00419348" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420652" "00419349" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420653" "00419350" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420654" "00419351" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420655" "00419352" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420656" "00419353" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420657" "00419354" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420658" "00419355" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420659" "00419356" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420660" "00419357" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420661" "00419358" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420662" "00419359" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420663" "00419360" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420664" "00419361" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420665" "00419362" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420666" "00419363" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420667" "00419364" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420668" "00419365" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420669" "00419366" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420670" "00419367" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420671" "00419368" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420672" "00419369" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420673" "00419370" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420674" "00419371" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420675" "00419372" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420676" "00419373" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420677" "00419374" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420678" "00419375" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420679" "00419376" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420680" "00419377" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420681" "00419378" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420682" "00419379" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420683" "00419380" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420684" "00419381" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420685" "00419382" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420686" "00419383" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420687" "00419384" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420688" "00419385" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420689" "00419386" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420690" "00419387" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420691" "00419388" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420692" "00419389" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420693" "00419390" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420694" "00419391" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420695" "00419392" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420696" "00419393" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420697" "00419394" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420698" "00419395" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420699" "00419396" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420700" "00419397" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420701" "00419398" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420702" "00419399" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420703" "00419400" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420704" "00419401" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420705" "00419402" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420706" "00419403" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420707" "00419404" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420708" "00419405" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420709" "00419406" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420710" "00419407" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420711" "00419408" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420712" "00419409" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420713" "00419410" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420714" "00419411" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420715" "00419412" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420716" "00419413" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420717" "00419414" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420718" "00419415" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420719" "00419416" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420720" "00419417" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420721" "00419418" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420722" "00419419" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420723" "00419420" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420724" "00419421" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420725" "00419422" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420726" "00419423" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420727" "00419424" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420728" "00419425" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420729" "00419426" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420730" "00419427" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420731" "00419428" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420732" "00419429" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420733" "00419430" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420734" "00419431" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420735" "00419432" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420736" "00419433" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420737" "00419434" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420738" "00419435" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420739" "00419436" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420740" "00419437" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420741" "00419438" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420742" "00419439" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420743" "00419440" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420744" "00419441" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420745" "00419442" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420746" "00419443" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420747" "00419444" "1" "00000" "03840" "2022-10-19 19:08:27" "" "" "SEQ" "DNA" "" "" "0000420748" "00419445" "1" "00000" "03840" "2022-10-19 19:56:28" "" "" "SEQ" "DNA" "" "" "0000420749" "00419446" "1" "00000" "03840" "2022-10-19 19:56:28" "" "" "SEQ" "DNA" "" "" "0000420750" "00419447" "1" "00000" "03840" "2022-10-19 19:56:28" "" "" "SEQ" "DNA" "" "" "0000420751" "00419448" "1" "00000" "03840" "2022-10-19 19:56:28" "" "" "SEQ" "DNA" "" "" "0000420752" "00419449" "1" "00000" "03840" "2022-10-19 19:56:28" "" "" "SEQ" "DNA" "" "" "0000421029" "00419724" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421030" "00419725" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421031" "00419726" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421714" "00420405" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421715" "00420406" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421744" "00420435" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421782" "00420473" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421798" "00420489" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421813" "00420504" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421840" "00420531" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421885" "00420576" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000425438" "00424127" "1" "01741" "01741" "2022-11-17 14:28:43" "" "" "SEQ-NG" "DNA" "" "" "0000427931" "00426610" "1" "00000" "03840" "2022-12-01 17:16:46" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000428253" "00426933" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428254" "00426934" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428255" "00426935" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428256" "00426936" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428261" "00426941" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000430903" "00429490" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430919" "00429506" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430957" "00429544" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430981" "00429568" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431028" "00429615" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431035" "00429622" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431046" "00429633" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431047" "00429634" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431051" "00429638" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431084" "00429671" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431090" "00429677" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431197" "00429784" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431277" "00429864" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431303" "00429890" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431380" "00429967" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431422" "00430009" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431469" "00430056" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431483" "00430070" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431514" "00430101" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431522" "00430109" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431538" "00430125" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000437943" "00436459" "1" "04552" "04552" "2023-09-17 04:37:17" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000437944" "00436460" "1" "04552" "04552" "2023-09-17 04:39:35" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000437945" "00436461" "1" "04552" "04552" "2023-09-17 04:41:52" "" "" "SEQ-ON" "DNA" "BUCCAL SWAB" "" "0000437946" "00436462" "1" "04552" "04552" "2023-09-17 04:44:16" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000448580" "00447003" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448635" "00447058" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448638" "00447061" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448700" "00447123" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448703" "00447126" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448764" "00447187" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448869" "00447292" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448904" "00447327" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449024" "00447447" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449025" "00447448" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449026" "00447449" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449027" "00447450" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449028" "00447451" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449029" "00447452" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449031" "00447454" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449032" "00447455" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449034" "00447457" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449036" "00447459" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449037" "00447460" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449038" "00447461" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449039" "00447462" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449040" "00447463" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449042" "00447465" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449043" "00447466" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449044" "00447467" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449046" "00447469" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449049" "00447472" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449050" "00447473" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449051" "00447474" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449052" "00447475" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449053" "00447476" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449055" "00447478" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449056" "00447479" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449058" "00447481" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449063" "00447486" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449076" "00447499" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449081" "00447504" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449098" "00447521" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449222" "00447645" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452600" "00451002" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452601" "00451003" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452602" "00451004" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452603" "00451005" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452604" "00451006" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452605" "00451007" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1777 "{{screeningid}}" "{{geneid}}" "0000000005" "ACADM" "0000000005" "ATP7B" "0000000005" "CFTR" "0000000005" "ETFB" "0000000005" "GLB1" "0000000005" "MEFV" "0000000005" "NHLRC1" "0000000005" "PKHD1" "0000000005" "RAPSN" "0000000005" "SERPINA1" "0000000005" "SLC26A2" "0000000005" "USH2A" "0000000057" "ALDOB" "0000000057" "ATM" "0000000057" "ATP7B" "0000000057" "DPYD" "0000000057" "ERCC6" "0000000057" "ETFB" "0000000057" "GAA" "0000000057" "IGHMBP2" "0000000057" "LAMA2" "0000000057" "NHLRC1" "0000000057" "NPHS1" "0000000057" "SERPINA1" "0000000231" "CCDC40" "0000000235" "CCDC40" "0000032885" "RPGR" "0000032886" "RPGR" "0000032887" 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"0000390404" "RPGR" "0000390405" "RPGR" "0000390406" "RPGR" "0000390409" "RPGR" "0000390410" "RPGR" "0000390413" "RPGR" "0000390414" "RPGR" "0000390417" "RPGR" "0000390418" "RPGR" "0000390419" "RPGR" "0000390425" "RPGR" "0000390426" "RPGR" "0000390429" "RPGR" "0000390430" "RPGR" "0000390432" "RPGR" "0000390434" "RPGR" "0000390443" "RPGR" "0000390446" "RPGR" "0000390447" "RPGR" "0000390452" "RPGR" "0000390458" "RPGR" "0000390462" "RPGR" "0000390463" "RPGR" "0000390464" "RPGR" "0000390465" "RPGR" "0000390466" "RPGR" "0000390467" "RPGR" "0000390468" "RPGR" "0000390469" "RPGR" "0000390470" "RPGR" "0000390471" "RPGR" "0000390473" "RPGR" "0000390475" "RPGR" "0000390477" "RPGR" "0000390480" "RPGR" "0000390482" "RPGR" "0000390483" "RPGR" "0000390484" "RPGR" "0000390485" "RPGR" "0000390486" "RPGR" "0000390488" "RPGR" "0000390496" "RPGR" "0000390497" "RPGR" "0000390505" "RPGR" "0000390510" "RPGR" "0000390520" "RPGR" "0000390524" "RPGR" "0000390527" "RPGR" "0000390529" "RPGR" "0000390530" "RPGR" "0000390532" "RPGR" "0000390536" "RPGR" "0000390538" "RPGR" "0000390542" "RPGR" "0000390551" "RPGR" "0000390553" "RPGR" "0000390561" "RPGR" "0000390564" "RPGR" "0000390569" "RPGR" "0000390572" "RPGR" "0000390575" "RPGR" "0000390580" "RPGR" "0000390585" "RPGR" "0000391633" "RPGR" "0000391634" "RPGR" "0000391635" "RPGR" "0000391636" "RPGR" "0000391637" "RPGR" "0000391638" "RPGR" "0000391639" "RPGR" "0000391640" "RPGR" "0000392053" "RPGR" "0000392054" "RPGR" "0000392092" "RPGR" "0000392136" "RPGR" "0000392137" "RPGR" "0000392146" "RPGR" "0000392155" "RPGR" "0000392451" "RPGR" "0000392452" "RPGR" "0000392453" "RPGR" "0000392468" "RPGR" "0000392476" "RPGR" "0000392478" "RPGR" "0000392484" "RPGR" "0000392508" "RPGR" "0000392524" "RPGR" "0000392779" "RPGR" "0000392780" "RPGR" "0000392781" "RPGR" "0000392782" "RPGR" "0000392783" "RPGR" "0000392784" "RPGR" "0000393376" "RPGR" "0000393377" "RPGR" "0000393378" "RPGR" "0000393401" "RPGR" "0000393402" "RPGR" "0000393403" "RPGR" "0000393574" "RPGR" "0000393621" "RPGR" "0000393622" "RPGR" "0000393627" "RPGR" "0000393878" "RPGR" "0000393879" "RPGR" "0000394635" "RPGR" "0000394636" "RPGR" "0000394637" "RPGR" "0000394638" "RPGR" "0000394639" "RPGR" "0000394640" "RPGR" "0000394689" "RPGR" "0000394694" "RPGR" "0000394699" "RPGR" "0000394720" "RPGR" "0000394757" "RPGR" "0000394759" "RPGR" "0000394760" "RPGR" "0000394767" "RPGR" "0000394772" "RPGR" "0000394780" "RPGR" "0000394789" "RPGR" "0000394796" "RPGR" "0000394798" "RPGR" "0000394821" "RPGR" "0000394836" "RPGR" "0000394867" "RPGR" "0000394883" "RPGR" "0000394902" "RPGR" "0000394905" "RPGR" "0000394909" "RPGR" "0000394958" "RPGR" "0000394970" "RPGR" "0000394976" "RPGR" "0000394988" "RPGR" "0000394994" "RPGR" "0000394997" "RPGR" "0000395000" "RPGR" "0000395008" "RPGR" "0000395009" "RPGR" "0000395018" "RPGR" "0000395020" "RPGR" "0000395034" "RPGR" "0000395037" "RPGR" "0000395069" "RPGR" "0000395089" "RPGR" "0000395124" "RPGR" "0000395130" "RPGR" "0000395132" "RPGR" "0000395133" "RPGR" "0000396015" "RPGR" "0000396016" "RPGR" "0000396017" "RPGR" "0000396018" "RPGR" "0000396019" "RPGR" "0000396020" "RPGR" "0000396021" "RPGR" "0000396022" "RPGR" "0000396023" "RPGR" "0000396024" "RPGR" "0000396025" "RPGR" "0000396026" "RPGR" "0000396027" "RPGR" "0000396028" "RPGR" "0000396029" "RPGR" "0000396030" "RPGR" "0000396031" "RPGR" "0000396032" "RPGR" "0000396033" "RPGR" "0000396851" "RPGR" "0000397094" "RPGR" "0000397108" "RPGR" "0000397109" "RPGR" "0000397137" "RPGR" "0000397138" "RPGR" "0000397149" "RPGR" "0000397174" "RPGR" "0000397182" "RPGR" "0000397195" "RPGR" "0000397196" "RPGR" "0000397197" "RPGR" "0000397731" "RPGR" "0000397768" "USH2A" "0000397769" "RP1" "0000397772" "EYS" "0000397775" "USH2A" "0000397819" "EYS" "0000397871" "RPGR" "0000397891" "TOPORS" "0000398828" "RPGR" "0000398829" "RPGR" "0000404501" "CACNA1F" "0000405429" "CACNA1F" "0000409592" "RPGR" "0000409593" "RPGR" "0000409594" "RPGR" "0000409595" "RPGR" "0000409596" "RPGR" "0000409597" "RPGR" "0000409598" "RPGR" "0000409599" "RPGR" "0000409600" "RPGR" "0000409601" "RPGR" "0000409602" "RPGR" "0000409603" "RPGR" "0000409604" "RPGR" "0000409605" "RPGR" "0000409606" "RPGR" "0000409607" "BBS1" "0000409674" "RPGR" "0000409675" "RPGR" "0000409676" "RPGR" "0000409680" "RPGR" "0000414731" "RPGR" "0000414732" "RPGR" "0000415586" "RPGR" "0000415587" "RPGR" "0000415588" "RPGR" "0000415589" "RPGR" "0000415590" "RPGR" "0000415591" "RPGR" "0000415592" "RPGR" "0000415599" "RPGR" "0000415600" "RPGR" "0000415601" "RPGR" "0000415602" "RPGR" "0000415603" "RPGR" "0000415604" "RPGR" "0000415605" "RPGR" "0000415606" "RPGR" "0000415607" "RPGR" "0000415608" "RPGR" "0000418870" "RPGR" "0000420528" "RPGR" "0000420529" "RPGR" "0000420530" "RPGR" "0000420531" "RPGR" "0000420532" "RPGR" "0000420533" "RPGR" "0000420534" "RPGR" "0000420535" "RPGR" "0000420536" "RPGR" "0000420537" "RPGR" "0000420538" "RPGR" "0000420539" "RPGR" "0000420540" "RPGR" "0000420541" "RPGR" "0000420542" "RPGR" "0000420543" "RPGR" "0000420544" "RPGR" "0000420545" "RPGR" "0000420546" "RPGR" "0000420547" "RPGR" "0000420548" "RPGR" "0000420549" "RPGR" "0000420550" "RPGR" "0000420551" "RPGR" "0000420552" "RPGR" "0000420553" "RPGR" "0000420554" "RPGR" "0000420555" "RPGR" "0000420556" "RPGR" "0000420557" "RPGR" "0000420558" "RPGR" "0000420559" "RPGR" "0000420560" "RPGR" "0000420561" "RPGR" "0000420562" "RPGR" "0000420563" "RPGR" "0000420564" "RPGR" "0000420565" "RPGR" "0000420566" "RPGR" "0000420567" "RPGR" "0000420568" "RPGR" "0000420569" "RPGR" "0000420570" "RPGR" "0000420571" "RPGR" "0000420572" "RPGR" "0000420573" "RPGR" "0000420574" "RPGR" "0000420575" "RPGR" "0000420576" "RPGR" "0000420577" "RPGR" "0000420578" "RPGR" "0000420579" "RPGR" "0000420580" "RPGR" "0000420581" "RPGR" "0000420582" "RPGR" "0000420583" "RPGR" "0000420584" "RPGR" "0000420585" "RPGR" "0000420586" "RPGR" "0000420587" "RPGR" "0000420588" "RPGR" "0000420589" "RPGR" "0000420590" "RPGR" "0000420591" "RPGR" "0000420592" "RPGR" "0000420593" "RPGR" "0000420594" "RPGR" "0000420595" "RPGR" "0000420596" "RPGR" "0000420597" "RPGR" "0000420598" "RPGR" "0000420599" "RPGR" "0000420600" "RPGR" "0000420601" "RPGR" "0000420602" "RPGR" "0000420603" "RPGR" "0000420604" "RPGR" "0000420605" "RPGR" "0000420606" "RPGR" "0000420607" "RPGR" "0000420608" "RPGR" "0000420609" "RPGR" "0000420610" "RPGR" "0000420611" "RPGR" "0000420612" "RPGR" "0000420613" "RPGR" "0000420614" "RPGR" "0000420615" "RPGR" "0000420616" "RPGR" "0000420617" "RPGR" "0000420618" "RPGR" "0000420619" "RPGR" "0000420620" "RPGR" "0000420621" "RPGR" "0000420622" "RPGR" "0000420625" "RPGR" "0000420626" "RPGR" "0000420627" "RPGR" "0000420628" "RPGR" "0000420629" "RPGR" "0000420630" "RPGR" "0000420631" "RPGR" "0000420632" "RPGR" "0000420633" "RPGR" "0000420634" "RPGR" "0000420635" "RPGR" "0000420636" "RPGR" "0000420637" "RPGR" "0000420638" "RPGR" "0000420639" "RPGR" "0000420640" "RPGR" "0000420641" "RPGR" "0000420642" "RPGR" "0000420643" "RPGR" "0000420644" "RPGR" "0000420645" "RPGR" "0000420646" "RPGR" "0000420647" "RPGR" "0000420648" "RPGR" "0000420649" "RPGR" "0000420650" "RPGR" "0000420651" "RPGR" "0000420652" "RPGR" "0000420653" "RPGR" "0000420654" "RPGR" "0000420655" "RPGR" "0000420656" "RPGR" "0000420657" "RPGR" "0000420658" "RPGR" "0000420659" "RPGR" "0000420660" "RPGR" "0000420661" "RPGR" "0000420662" "RPGR" "0000420663" "RPGR" "0000420664" "RPGR" "0000420665" "RPGR" "0000420666" "RPGR" "0000420667" "RPGR" "0000420668" "RPGR" "0000420669" "RPGR" "0000420670" "RPGR" "0000420671" "RPGR" "0000420672" "RPGR" "0000420673" "RPGR" "0000420674" "RPGR" "0000420675" "RPGR" "0000420676" "RPGR" "0000420677" "RPGR" "0000420678" "RPGR" "0000420679" "RPGR" "0000420680" "RPGR" "0000420681" "RPGR" "0000420682" "RPGR" "0000420683" "RPGR" "0000420684" "RPGR" "0000420685" "RPGR" "0000420686" "RPGR" "0000420687" "RPGR" "0000420688" "RPGR" "0000420689" "RPGR" "0000420690" "RPGR" "0000420691" "RPGR" "0000420692" "RPGR" "0000420693" "RPGR" "0000420694" "RPGR" "0000420695" "RPGR" "0000420696" "RPGR" "0000420697" "RPGR" "0000420698" "RPGR" "0000420699" "RPGR" "0000420700" "RPGR" "0000420701" "RPGR" "0000420702" "RPGR" "0000420703" "RPGR" "0000420704" "RPGR" "0000420705" "RPGR" "0000420706" "RPGR" "0000420707" "RPGR" "0000420708" "RPGR" "0000420709" "RPGR" "0000420710" "RPGR" "0000420711" "RPGR" "0000420712" "RPGR" "0000420713" "RPGR" "0000420714" "RPGR" "0000420715" "RPGR" "0000420716" "RPGR" "0000420717" "RPGR" "0000420718" "RPGR" "0000420719" "RPGR" "0000420720" "RPGR" "0000420721" "RPGR" "0000420722" "RPGR" "0000420723" "RPGR" "0000420724" "RPGR" "0000420725" "RPGR" "0000420726" "RPGR" "0000420727" "RPGR" "0000420728" "RPGR" "0000420729" "RPGR" "0000420730" "RPGR" "0000420731" "RPGR" "0000420732" "RPGR" "0000420733" "RPGR" "0000420734" "RPGR" "0000420735" "RPGR" "0000420736" "RPGR" "0000420737" "RPGR" "0000420738" "RPGR" "0000420739" "RPGR" "0000420740" "RPGR" "0000420741" "RPGR" "0000420742" "RPGR" "0000420743" "RPGR" "0000420744" "RPGR" "0000420745" "RPGR" "0000420746" "RPGR" "0000420747" "RPGR" "0000420748" "RPGR" "0000420749" "RPGR" "0000420750" "RPGR" "0000420751" "RPGR" "0000420752" "RPGR" "0000421714" "RPGR" "0000421715" "RPGR" "0000421744" "RPGR" "0000421782" "RPGR" "0000421798" "RPGR" "0000421813" "RPGR" "0000421840" "RPGR" "0000421885" "RPGR" "0000425438" "RPGR" "0000427931" "ABCA4" "0000427931" "RPGR" "0000428253" "RPGR" "0000428254" "RPGR" "0000428255" "RPGR" "0000428256" "RPGR" "0000428261" "RPGR" "0000430903" "RPGR" "0000430919" "RPGR" "0000430957" "RPGR" "0000430981" "RPGR" "0000431028" "RPGR" "0000431035" "RPGR" "0000431046" "RPGR" "0000431047" "RPGR" "0000431051" "RPGR" "0000431084" "RPGR" "0000431090" "RPGR" "0000431197" "RPGR" "0000431277" "RPGR" "0000431303" "RPGR" "0000431380" "RPGR" "0000431422" "RPGR" "0000431469" "RPGR" "0000431483" "RPGR" "0000431514" "RPGR" "0000431522" "RPGR" "0000431538" "RPGR" "0000437943" "RPGR" "0000437944" "RPGR" "0000437945" "RPGR" "0000437946" "RPGR" ## 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 = 2040 "{{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}}" "0000000153" "0" "50" "10" "50690735" "50690735" "subst" "7.31309E-5" "00002" "ERCC6_000001" "g.50690735G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49482689G>A" "" "VUS" "" "0000000231" "0" "50" "11" "47469631" "47469631" "subst" "0.00155007" "00002" "RAPSN_000002" "g.47469631G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47448079G>T" "" "VUS" "" "0000001862" "20" "50" "X" "38169784" "38169784" "dup" "0" "00037" "RPGR_000021" "g.38169784dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38310531dup" "" "VUS" "" "0000002881" "20" "50" "X" "38169784" "38169784" "dup" "0" "00037" "RPGR_000017" "g.38169784dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38310531dup" "" "VUS" "" "0000006594" "20" "50" "X" "38132628" "38132628" "subst" "0.19848" "00037" "RPGR_000015" "g.38132628A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38273375A>G" "" "VUS" "" "0000006595" "20" "50" "X" "38144065" "38144065" "subst" "0" "00037" "RPGR_000016" "g.38144065A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38284812A>G" "" "VUS" "" "0000006596" "20" "50" "X" "38160695" "38160695" "subst" "0" "00037" "RPGR_000011" "g.38160695C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38301442C>T" "" "VUS" "" "0000006597" "20" "50" "X" "38176261" "38176261" "subst" "0" "00037" "RPGR_000012" "g.38176261A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38317008A>C" "" "VUS" "" "0000006598" "20" "50" "X" "38177967" "38177967" "subst" "0" "00037" "RPGR_000013" "g.38177967T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38318714T>C" "" "VUS" "" "0000008652" "20" "50" "X" "38144065" "38144065" "subst" "0" "00037" "RPGR_000016" "g.38144065A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38284812A>G" "" "VUS" "" "0000008653" "20" "50" "X" "38160695" "38160695" "subst" "0" "00037" "RPGR_000011" "g.38160695C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38301442C>T" "" "VUS" "" "0000008654" "20" "50" "X" "38169784" "38169784" "dup" "0" "00037" "RPGR_000021" "g.38169784dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38310531dup" "" "VUS" "" "0000008655" "20" "50" "X" "38177967" "38177967" "subst" "0" "00037" "RPGR_000013" "g.38177967T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38318714T>C" "" "VUS" "" "0000010881" "20" "50" "X" "38169784" "38169784" "dup" "0" "00037" "RPGR_000017" "g.38169784dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38310531dup" "" "VUS" "" "0000014560" "20" "50" "X" "38132628" "38132628" "subst" "0.19848" "00037" "RPGR_000015" "g.38132628A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38273375A>G" "" "VUS" "" "0000014561" "20" "50" "X" "38132996" "38132996" "subst" "0" "00037" "RPGR_000014" "g.38132996A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38273743A>T" "" "VUS" "" "0000014564" "20" "50" "X" "38176261" "38176261" "subst" "0" "00037" "RPGR_000012" "g.38176261A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38317008A>C" "" "VUS" "" "0000019479" "0" "55" "X" "38156574" "38156575" "del" "0" "00102" "RPGR_000018" "g.38156574_38156575del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38297321_38297322del" "" "VUS" "" "0000019502" "0" "55" "X" "38146094" "38146094" "subst" "0" "00102" "RPGR_000020" "g.38146094G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38286841G>A" "" "VUS" "" "0000019505" "0" "55" "X" "38156577" "38156578" "del" "0" "00102" "RPGR_000019" "g.38156577_38156578del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38297324_38297325del" "" "VUS" "" "0000060434" "1" "50" "X" "38158290" "38158290" "subst" "0.109585" "00124" "RPGR_000001" "g.38158290C>T" "28/208" "{PMID:Tarpey 2009:19377476}" "" "A388A" "recurrent change" "Germline" "" "" "0" "" "" "g.38299037C>T" "" "VUS" "" "0000060435" "1" "50" "X" "38156677" "38156677" "subst" "0.102089" "00124" "RPGR_000002" "g.38156677C>T" "7/208" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent change" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "VUS" "" "0000060436" "1" "50" "X" "38156660" "38156660" "subst" "0.0792322" "00124" "RPGR_000003" "g.38156660T>C" "6/208" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent change" "Germline" "" "" "0" "" "" "g.38297407T>C" "" "VUS" "" "0000060437" "1" "50" "X" "38156584" "38156584" "subst" "0.0084194" "00124" "RPGR_000004" "g.38156584T>C" "2/208" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent change" "Germline" "" "" "0" "" "" "g.38297331T>C" "" "VUS" "" "0000060438" "1" "10" "X" "38156584" "38156584" "subst" "0.0084194" "00229" "RPGR_000004" "g.38156584T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "yes" "" "0" "" "" "g.38297331T>C" "" "benign" "" "0000060439" "1" "10" "X" "38156584" "38156584" "subst" "0.0084194" "00229" "RPGR_000004" "g.38156584T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "" "0" "" "" "g.38297331T>C" "" "benign" "" "0000060440" "1" "50" "X" "38147269" "38147269" "subst" "0.019054" "00124" "RPGR_000005" "g.38147269G>A" "2/208" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent change" "Germline" "" "" "0" "" "" "g.38288016G>A" "" "VUS" "" "0000060441" "1" "50" "X" "38147170" "38147170" "subst" "0.102629" "00124" "RPGR_000006" "g.38147170C>T" "7/208" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent change" "Germline" "" "" "0" "" "" "g.38287917C>T" "" "VUS" "" "0000060442" "1" "50" "X" "38169914" "38169914" "subst" "0.00193277" "00124" "RPGR_000007" "g.38169914C>T" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "K244K" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.38310661C>T" "" "VUS" "" "0000060443" "1" "50" "X" "38147291" "38147293" "del" "0" "00229" "RPGR_000008" "g.38147291_38147293del" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.38288038_38288040del" "" "VUS" "" "0000060444" "1" "50" "X" "38147291" "38147293" "del" "0" "00229" "RPGR_000008" "g.38147291_38147293del" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.38288038_38288040del" "" "VUS" "" "0000060445" "1" "50" "X" "38147291" "38147293" "del" "0" "00229" "RPGR_000008" "g.38147291_38147293del" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.38288038_38288040del" "" "VUS" "" "0000060446" "2" "50" "X" "38147291" "38147293" "del" "0" "00229" "RPGR_000008" "g.38147291_38147293del" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.38288038_38288040del" "" "VUS" "" "0000060447" "1" "70" "X" "38146458" "38146459" "ins" "0" "00229" "RPGR_000009" "g.38146458_38146459insA" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "no" "" "0" "" "" "g.38287205_38287206insA" "" "likely pathogenic" "" "0000060448" "1" "10" "X" "38182130" "38182130" "subst" "0.0156032" "00229" "RPGR_000010" "g.38182130T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "" "0" "" "" "g.38322877T>C" "" "benign" "" "0000170927" "21" "90" "X" "38169869" "38169884" "delins" "0" "01244" "RPGR_000186" "g.38169869_38169884delinsTG" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38310616_38310631delinsTG" "" "pathogenic" "ACMG" "0000247745" "0" "10" "X" "38180270" "38180270" "subst" "0.000327157" "02330" "RPGR_000053" "g.38180270A>G" "" "" "" "RPGR(NM_001034853.2):c.310+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38321017A>G" "" "benign" "" "0000255011" "0" "30" "X" "38182665" "38182665" "subst" "0.000510497" "01943" "RPGR_000057" "g.38182665A>C" "" "" "" "RPGR(NM_001034853.1):c.141T>G (p.S47=), RPGR(NM_001034853.2):c.141T>G (p.S47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38323412A>C" "" "likely benign" "" "0000255342" "0" "30" "X" "38150286" "38150286" "subst" "0" "01943" "RPGR_000042" "g.38150286A>G" "" "" "" "RPGR(NM_001034853.1):c.1507-9T>C, RPGR(NM_001034853.2):c.1507-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38291033A>G" "" "likely benign" "" "0000294998" "0" "10" "X" "38160494" "38160494" "subst" "0.000423216" "02330" "RPGR_000045" "g.38160494C>T" "" "" "" "RPGR(NM_001034853.2):c.1059+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38301241C>T" "" "benign" "" "0000294999" "0" "10" "X" "38156584" "38156584" "subst" "0.0084194" "02330" "RPGR_000004" "g.38156584T>C" "" "" "" "RPGR(NM_000328.2):c.1367A>G (p.(Gln456Arg)), RPGR(NM_001034853.1):c.1367A>G (p.Q456R), RPGR(NM_001034853.2):c.1367A>G (p.Q456R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38297331T>C" "" "benign" "" "0000295000" "0" "10" "X" "38147259" "38147259" "subst" "0.000168376" "02330" "RPGR_000041" "g.38147259T>A" "" "" "" "RPGR(NM_001034853.1):c.1608A>T (p.T536=), RPGR(NM_001034853.2):c.1608A>T (p.T536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38288006T>A" "" "benign" "" "0000295001" "0" "30" "X" "38146508" "38146508" "subst" "0.000223209" "02330" "RPGR_000040" "g.38146508G>C" "" "" "" "RPGR(NM_001034853.1):c.1754-10C>G, RPGR(NM_001034853.2):c.1754-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38287255G>C" "" "likely benign" "" "0000295002" "0" "50" "X" "38182174" "38182174" "subst" "0" "02330" "RPGR_000055" "g.38182174C>A" "" "" "" "RPGR(NM_001034853.2):c.179G>T (p.G60V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322921C>A" "" "VUS" "" "0000295003" "0" "10" "X" "38182131" "38182131" "subst" "0.000660147" "02330" "RPGR_000054" "g.38182131G>A" "" "" "" "RPGR(NM_001034853.1):c.222C>T (p.A74=), RPGR(NM_001034853.2):c.222C>T (p.A74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322878G>A" "" "benign" "" "0000295004" "0" "10" "X" "38129004" "38129004" "subst" "0.00018491" "02330" "RPGR_000023" "g.38129004T>C" "" "" "" "RPGR(NM_000328.3):c.2323A>G (p.I775V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38269751T>C" "" "benign" "" "0000295005" "0" "10" "X" "38145810" "38145824" "del" "0" "02330" "RPGR_000036" "g.38145810_38145824del" "" "" "" "RPGR(NM_001034853.1):c.2447_2461del (p.(Gly816_Glu820del)), RPGR(NM_001034853.1):c.2447_2461delGAGGGGAAGTAGAGG (p.G816_E820del), RPGR(NM_001034853...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286557_38286571del" "" "benign" "" "0000295007" "0" "90" "X" "38145104" "38145105" "del" "0" "02330" "RPGR_000030" "g.38145104_38145105del" "" "" "" "RPGR(NM_001034853.2):c.3150_3151delGG (p.E1051Rfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38285851_38285852del" "" "pathogenic" "" "0000295008" "0" "90" "X" "38145038" "38145044" "del" "0" "02330" "RPGR_000029" "g.38145038_38145044del" "" "" "" "RPGR(NM_001034853.2):c.3212_3218delAGACAGG (p.E1071Afs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38285785_38285791del" "" "pathogenic" "" "0000295009" "0" "10" "X" "38144845" "38144845" "subst" "0.00168528" "02330" "RPGR_000027" "g.38144845C>T" "" "" "" "RPGR(NM_001034853.2):c.3407G>A (p.G1136D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38285592C>T" "" "benign" "" "0000295010" "0" "90" "X" "38178081" "38178081" "subst" "0" "02330" "RPGR_000050" "g.38178081C>A" "" "" "" "RPGR(NM_001034853.1):c.469+1G>T, RPGR(NM_001034853.2):c.469+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38318828C>A" "" "pathogenic" "" "0000295011" "0" "50" "X" "38178079" "38178079" "subst" "0" "02330" "RPGR_000049" "g.38178079C>G" "" "" "" "RPGR(NM_001034853.2):c.469+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38318826C>G" "" "VUS" "" "0000295012" "0" "10" "X" "38169914" "38169914" "subst" "0.00193277" "02330" "RPGR_000007" "g.38169914C>T" "" "" "" "RPGR(NM_001034853.1):c.732G>A (p.K244=), RPGR(NM_001034853.2):c.732G>A (p.K244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38310661C>T" "" "benign" "" "0000295013" "0" "10" "X" "38164059" "38164059" "subst" "9.20545E-5" "02330" "RPGR_000048" "g.38164059C>A" "" "" "" "RPGR(NM_001034853.2):c.779-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38304806C>A" "" "benign" "" "0000295014" "0" "10" "X" "38164037" "38164037" "subst" "0.00118194" "02330" "RPGR_000047" "g.38164037G>C" "" "" "" "RPGR(NM_001034853.2):c.785C>G (p.A262G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38304784G>C" "" "benign" "" "0000307312" "0" "50" "X" "38160526" "38160526" "subst" "0.00703357" "01943" "RPGR_000046" "g.38160526T>C" "" "" "" "RPGR(NM_001034853.1):c.1033A>G (p.N345D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38301273T>C" "" "VUS" "" "0000307313" "0" "30" "X" "38156678" "38156678" "subst" "1.12184E-5" "01943" "RPGR_000043" "g.38156678T>C" "" "" "" "RPGR(NM_001034853.1):c.1273A>G (p.R425G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38297425T>C" "" "likely benign" "" "0000307314" "0" "30" "X" "38156584" "38156584" "subst" "0.0084194" "01943" "RPGR_000004" "g.38156584T>C" "" "" "" "RPGR(NM_000328.2):c.1367A>G (p.(Gln456Arg)), RPGR(NM_001034853.1):c.1367A>G (p.Q456R), RPGR(NM_001034853.2):c.1367A>G (p.Q456R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38297331T>C" "" "likely benign" "" "0000307315" "0" "30" "X" "38182653" "38182653" "subst" "0.000377567" "01943" "RPGR_000056" "g.38182653G>A" "" "" "" "RPGR(NM_001034853.1):c.153C>T (p.T51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38323400G>A" "" "likely benign" "" "0000307316" "0" "50" "X" "38147291" "38147293" "del" "0" "01943" "RPGR_000008" "g.38147291_38147293del" "" "" "" "RPGR(NM_001034853.1):c.1579_1581delCAA (p.Q527del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38288038_38288040del" "" "VUS" "" "0000307317" "0" "30" "X" "38132658" "38132658" "subst" "0" "01943" "RPGR_000025" "g.38132658T>C" "" "" "" "RPGR(NM_000328.2):c.2222A>G (p.D741G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38273405T>C" "" "likely benign" "" "0000307318" "0" "30" "X" "38182131" "38182131" "subst" "0.000660147" "01943" "RPGR_000054" "g.38182131G>A" "" "" "" "RPGR(NM_001034853.1):c.222C>T (p.A74=), RPGR(NM_001034853.2):c.222C>T (p.A74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38322878G>A" "" "likely benign" "" "0000307319" "0" "30" "X" "38129060" "38129060" "subst" "0.000409484" "01943" "RPGR_000024" "g.38129060G>A" "" "" "" "RPGR(NM_000328.2):c.2267C>T (p.S756L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38269807G>A" "" "likely benign" "" "0000307320" "0" "30" "X" "38128979" "38128979" "subst" "0" "01943" "RPGR_000022" "g.38128979C>T" "" "" "" "RPGR(NM_000328.2):c.2348G>A (p.S783N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38269726C>T" "" "likely benign" "" "0000307321" "0" "50" "X" "38145732" "38145752" "del" "0" "01943" "RPGR_000035" "g.38145732_38145752del" "" "" "" "RPGR(NM_001034853.1):c.2541_2561del (p.(Gly849_Glu855del)), RPGR(NM_001034853.1):c.2541_2561delGGAGGGGGAAGAGGAGGAAGG (p.E850_G856del), RPGR(NM_001...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286479_38286499del" "" "VUS" "" "0000307322" "0" "30" "X" "38144850" "38144850" "subst" "0.000386224" "01943" "RPGR_000028" "g.38144850T>G" "" "" "" "RPGR(NM_001034853.1):c.3402A>C (p.P1134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38285597T>G" "" "likely benign" "" "0000307323" "0" "50" "X" "38178178" "38178178" "subst" "5.59776E-5" "01943" "RPGR_000052" "g.38178178C>T" "" "" "" "RPGR(NM_001034853.1):c.373G>A (p.E125K), RPGR(NM_001034853.2):c.373G>A (p.E125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38318925C>T" "" "VUS" "" "0000307324" "0" "30" "X" "38178157" "38178157" "subst" "0.00014554" "01943" "RPGR_000051" "g.38178157C>T" "" "" "" "RPGR(NM_001034853.1):c.394G>A (p.V132I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38318904C>T" "" "likely benign" "" "0000307325" "0" "90" "X" "38178081" "38178081" "subst" "0" "01943" "RPGR_000050" "g.38178081C>A" "" "" "" "RPGR(NM_001034853.1):c.469+1G>T, RPGR(NM_001034853.2):c.469+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38318828C>A" "" "pathogenic" "" "0000307326" "0" "30" "X" "38169914" "38169914" "subst" "0.00193277" "01943" "RPGR_000007" "g.38169914C>T" "" "" "" "RPGR(NM_001034853.1):c.732G>A (p.K244=), RPGR(NM_001034853.2):c.732G>A (p.K244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38310661C>T" "" "likely benign" "" "0000333743" "0" "50" "X" "38145330" "38145350" "dup" "0" "01804" "RPGR_000033" "g.38145330_38145350dup" "" "" "" "RPGR(NM_000328.2):c.1905+1034_1905+1035insAGGGGAGGAAGGAGAAGGGGA (p.(=)), RPGR(NM_001034853.2):c.2919_2939dupAGGGGAGGAAGGAGAAGGGGA (p.G977_E983dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286077_38286097dup" "" "VUS" "" "0000333744" "0" "50" "X" "38145423" "38145443" "dup" "0" "01804" "RPGR_000034" "g.38145423_38145443dup" "" "" "" "RPGR(NM_001034853.1):c.2840_2841insAGGGGAGGATGGAGAAGGGGA (p.(Gly941_Glu947dup)), RPGR(NM_001034853.2):c.2820_2840dupAGGGGAGGATGGAGAAGGGGA (p.D943_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286170_38286190dup" "" "VUS" "" "0000333745" "0" "30" "X" "38145732" "38145752" "del" "0" "01804" "RPGR_000035" "g.38145732_38145752del" "" "" "" "RPGR(NM_001034853.1):c.2541_2561del (p.(Gly849_Glu855del)), RPGR(NM_001034853.1):c.2541_2561delGGAGGGGGAAGAGGAGGAAGG (p.E850_G856del), RPGR(NM_001...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286479_38286499del" "" "likely benign" "" "0000333746" "0" "50" "X" "38145810" "38145824" "del" "0" "01804" "RPGR_000036" "g.38145810_38145824del" "" "" "" "RPGR(NM_001034853.1):c.2447_2461del (p.(Gly816_Glu820del)), RPGR(NM_001034853.1):c.2447_2461delGAGGGGAAGTAGAGG (p.G816_E820del), RPGR(NM_001034853...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286557_38286571del" "" "VUS" "" "0000333747" "0" "50" "X" "38146024" "38146024" "subst" "0" "01804" "RPGR_000037" "g.38146024C>A" "" "" "" "RPGR(NM_001034853.1):c.2228G>T (p.(Gly743Val)), RPGR(NM_001034853.2):c.2228G>T (p.G743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286771C>A" "" "VUS" "" "0000333748" "0" "50" "X" "38146195" "38146195" "subst" "0.00412313" "01804" "RPGR_000038" "g.38146195A>T" "" "" "" "RPGR(NM_001034853.1):c.2057T>A (p.M686K, p.(Met686Lys)), RPGR(NM_001034853.2):c.2057T>A (p.M686K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286942A>T" "" "VUS" "" "0000333749" "0" "30" "X" "38146400" "38146400" "subst" "0" "01804" "RPGR_000039" "g.38146400C>T" "" "" "" "RPGR(NM_000328.2):c.1852G>A (p.(Gly618Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38287147C>T" "" "likely benign" "" "0000342853" "0" "90" "X" "38158220" "38158220" "subst" "0" "02327" "RPGR_000068" "g.38158220G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38298967G>A" "" "pathogenic" "" "0000344515" "0" "90" "X" "38178198" "38178198" "subst" "0" "02327" "RPGR_000071" "g.38178198T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38318945T>C" "" "pathogenic" "" "0000345522" "0" "90" "X" "38146151" "38146151" "subst" "0" "02327" "RPGR_000065" "g.38146151C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286898C>A" "" "pathogenic" "" "0000345602" "0" "90" "X" "38145305" "38145305" "subst" "0" "02327" "RPGR_000062" "g.38145305C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38286052C>A" "" "pathogenic" "" "0000346356" "0" "90" "X" "38144952" "38144953" "del" "0" "02327" "RPGR_000058" "g.38144952_38144953del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38285699_38285700del" "" "pathogenic" "" "0000346579" "0" "90" "X" "38178128" "38178128" "del" "0" "02327" "RPGR_000070" "g.38178128del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38318875del" "" "pathogenic" "" "0000477347" "0" "50" "X" "38135874" "38135874" "subst" "0" "02591" "RPGR_000073" "g.38135874G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38276621G>A" "" "VUS" "" "0000477348" "0" "50" "X" "38144822" "38144822" "subst" "0.139556" "02591" "RPGR_000074" "g.38144822C>T" "310/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs12688514" "0" "" "" "g.38285569C>T" "" "VUS" "" "0000477349" "0" "90" "X" "38145050" "38145050" "subst" "0" "02591" "RPGR_000075" "g.38145050T>A" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38285797T>A" "" "pathogenic" "" "0000477350" "0" "50" "X" "38145069" "38145071" "del" "0" "02591" "RPGR_000076" "g.38145069_38145071del" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs746535151" "0" "" "" "g.38285816_38285818del" "" "VUS" "" "0000477351" "3" "50" "X" "38145132" "38145134" "del" "0" "02591" "RPGR_000077" "g.38145132_38145134del" "2/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs748582313" "0" "" "" "g.38285879_38285881del" "" "VUS" "" "0000477352" "3" "90" "X" "38145848" "38145849" "del" "0" "02591" "RPGR_000078" "g.38145848_38145849del" "4/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs398122960" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000477353" "0" "50" "X" "38145910" "38145910" "subst" "7.48706E-5" "02591" "RPGR_000079" "g.38145910G>A" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs368235489" "0" "" "" "g.38286657G>A" "" "VUS" "" "0000477354" "3" "10" "X" "38145911" "38145911" "subst" "0.121374" "02591" "RPGR_000080" "g.38145911C>T" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs5917557" "0" "" "" "g.38286658C>T" "" "benign" "" "0000477355" "0" "90" "X" "38146018" "38146019" "del" "0" "02591" "RPGR_000064" "g.38146018_38146019del" "2/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000477356" "3" "90" "X" "38146098" "38146098" "del" "0" "02591" "RPGR_000081" "g.38146098del" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000477357" "0" "90" "X" "38146176" "38146183" "dup" "0" "02591" "RPGR_000082" "g.38146176_38146183dup" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38286923_38286930dup" "" "pathogenic" "" "0000477358" "3" "90" "X" "38146249" "38146249" "del" "0" "02591" "RPGR_000083" "g.38146249del" "2/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38286996del" "" "pathogenic" "" "0000477359" "0" "50" "X" "38146269" "38146269" "subst" "0" "02591" "RPGR_000084" "g.38146269T>G" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38287016T>G" "" "VUS" "" "0000477360" "3" "50" "X" "38146295" "38146295" "subst" "0" "02591" "RPGR_000085" "g.38146295C>T" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38287042C>T" "" "VUS" "" "0000477361" "3" "50" "X" "38147138" "38147139" "ins" "0" "02591" "RPGR_000086" "g.38147138_38147139insATGCGTCAT" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38287885_38287886insATGCGTCAT" "" "VUS" "" "0000477362" "3" "50" "X" "38147141" "38147141" "subst" "0" "02591" "RPGR_000087" "g.38147141T>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38287888T>A" "" "VUS" "" "0000477363" "3" "90" "X" "38147142" "38147143" "ins" "0" "02591" "RPGR_000088" "g.38147142_38147143insATGCTTCATGC" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38287889_38287890insATGCTTCATGC" "" "pathogenic" "" "0000477364" "3" "90" "X" "38147145" "38147146" "ins" "0" "02591" "RPGR_000089" "g.38147145_38147146insAT" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38287892_38287893insAT" "" "pathogenic" "" "0000477365" "3" "50" "X" "38147147" "38147147" "subst" "0" "02591" "RPGR_000090" "g.38147147T>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38287894T>A" "" "VUS" "" "0000477366" "0" "10" "X" "38147170" "38147170" "subst" "0.102629" "02591" "RPGR_000006" "g.38147170C>T" "94/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1801688" "0" "" "" "g.38287917C>T" "" "benign" "" "0000477367" "3" "90" "X" "38147225" "38147225" "subst" "0" "02591" "RPGR_000091" "g.38147225C>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38287972C>A" "" "pathogenic" "" "0000477368" "3" "90" "X" "38150217" "38150217" "subst" "0" "02591" "RPGR_000092" "g.38150217G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38290964G>A" "" "pathogenic" "" "0000477369" "3" "90" "X" "38150223" "38150223" "subst" "0" "02591" "RPGR_000093" "g.38150223G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38290970G>A" "" "pathogenic" "" "0000477370" "3" "90" "X" "38156646" "38156647" "del" "0" "02591" "RPGR_000094" "g.38156646_38156647del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38297393_38297394del" "" "pathogenic" "" "0000477371" "0" "10" "X" "38156660" "38156660" "subst" "0.0792322" "02591" "RPGR_000003" "g.38156660T>C" "94/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62635003" "0" "" "" "g.38297407T>C" "" "benign" "" "0000477372" "0" "10" "X" "38156677" "38156677" "subst" "0.102089" "02591" "RPGR_000002" "g.38156677C>T" "94/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1801687" "0" "" "" "g.38297424C>T" "" "benign" "" "0000477373" "3" "50" "X" "38158329" "38158329" "subst" "0" "02591" "RPGR_000095" "g.38158329A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38299076A>C" "" "VUS" "" "0000477374" "3" "90" "X" "38158377" "38158377" "subst" "0" "02591" "RPGR_000096" "g.38158377A>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38299124A>T" "" "pathogenic" "" "0000477375" "3" "50" "X" "38160511" "38160511" "subst" "0" "02591" "RPGR_000097" "g.38160511T>C" "1/1201 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38301258T>C" "" "VUS" "" "0000477376" "3" "90" "X" "38160626" "38160626" "subst" "0" "02591" "RPGR_000098" "g.38160626T>C" "1/1201 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38301373T>C" "" "pathogenic" "" "0000477377" "3" "90" "X" "38163917" "38163917" "subst" "0" "02591" "RPGR_000099" "g.38163917C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62640590" "0" "" "" "g.38304664C>T" "" "pathogenic" "" "0000477378" "0" "50" "X" "38164037" "38164037" "subst" "0.00118194" "02591" "RPGR_000047" "g.38164037G>C" "30/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs138018739" "0" "" "" "g.38304784G>C" "" "VUS" "" "0000477379" "3" "90" "X" "38169882" "38169882" "subst" "0" "02591" "RPGR_000100" "g.38169882G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38310629G>A" "" "pathogenic" "" "0000477380" "0" "90" "X" "38178163" "38178164" "del" "0" "02591" "RPGR_000101" "g.38178163_38178164del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38318910_38318911del" "" "pathogenic" "" "0000477381" "3" "90" "X" "38180294" "38180294" "subst" "0" "02591" "RPGR_000102" "g.38180294G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38321041G>A" "" "pathogenic" "" "0000477382" "0" "90" "X" "38182652" "38182652" "subst" "0" "02591" "RPGR_000103" "g.38182652C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38323399C>T" "" "pathogenic" "" "0000477383" "3" "90" "X" "38186588" "38186588" "subst" "0" "02591" "RPGR_000104" "g.38186588C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62638626" "0" "" "" "g.38327335C>T" "" "pathogenic" "" "0000477609" "3" "50" "X" "38144822" "38144822" "subst" "0.139556" "02591" "RPGR_000074" "g.38144822C>T" "346/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs12688514" "0" "" "" "g.38285569C>T" "" "VUS" "" "0000477610" "3" "90" "X" "38146176" "38146183" "dup" "0" "02591" "RPGR_000082" "g.38146176_38146183dup" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38286923_38286930dup" "" "pathogenic" "" "0000477611" "3" "10" "X" "38147170" "38147170" "subst" "0.102629" "02591" "RPGR_000006" "g.38147170C>T" "59/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1801688" "0" "" "" "g.38287917C>T" "" "benign" "" "0000477612" "3" "10" "X" "38156660" "38156660" "subst" "0.0792322" "02591" "RPGR_000003" "g.38156660T>C" "59/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62635003" "0" "" "" "g.38297407T>C" "" "benign" "" "0000477613" "3" "10" "X" "38156677" "38156677" "subst" "0.102089" "02591" "RPGR_000002" "g.38156677C>T" "59/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1801687" "0" "" "" "g.38297424C>T" "" "benign" "" "0000477614" "3" "50" "X" "38164037" "38164037" "subst" "0.00118194" "02591" "RPGR_000047" "g.38164037G>C" "15/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs138018739" "0" "" "" "g.38304784G>C" "" "VUS" "" "0000484103" "3" "90" "X" "38145203" "38145203" "subst" "0" "01807" "RPGR_000105" "g.38145203C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38285950C>A" "" "pathogenic" "" "0000487579" "21" "90" "X" "38146392" "38146393" "del" "0" "03335" "RPGR_000106" "g.38146392_38146393del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38287139_38287140del" "" "pathogenic (recessive)" "" "0000499709" "3" "90" "X" "38146018" "38146019" "del" "0" "02591" "RPGR_000107" "g.38146018_38146019del" "4/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000575816" "0" "30" "X" "38128962" "38128962" "subst" "0.000190354" "01943" "RPGR_000108" "g.38128962C>T" "" "" "" "RPGR(NM_000328.2):c.2365G>A (p.D789N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38269709C>T" "" "likely benign" "" "0000575817" "0" "30" "X" "38129103" "38129103" "subst" "1.26353E-5" "02330" "RPGR_000109" "g.38129103C>T" "" "" "" "RPGR(NM_000328.3):c.2242-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38269850C>T" "" "likely benign" "" "0000575818" "0" "30" "X" "38135871" "38135871" "subst" "0" "01804" "RPGR_000110" "g.38135871T>C" "" "" "" "RPGR(NM_000328.2):c.2060A>G (p.(Asn687Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38276618T>C" "" "likely benign" "" "0000575819" "0" "30" "X" "38145021" "38145021" "subst" "0.01946" "01804" "RPGR_000111" "g.38145021A>T" "" "" "" "RPGR(NM_001034853.1):c.3231T>A (p.(Asn1077Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38285768A>T" "" "likely benign" "" "0000575820" "0" "30" "X" "38145069" "38145071" "del" "0" "02330" "RPGR_000076" "g.38145069_38145071del" "" "" "" "RPGR(NM_001034853.1):c.3189_3191delGGA (p.E1066del), RPGR(NM_001034853.2):c.3189_3191delGGA (p.E1066del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38285816_38285818del" "" "likely benign" "" "0000575823" "0" "10" "X" "38145732" "38145752" "del" "0" "02330" "RPGR_000035" "g.38145732_38145752del" "" "" "" "RPGR(NM_001034853.1):c.2541_2561del (p.(Gly849_Glu855del)), RPGR(NM_001034853.1):c.2541_2561delGGAGGGGGAAGAGGAGGAAGG (p.E850_G856del), RPGR(NM_001...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286479_38286499del" "" "benign" "" "0000575824" "0" "30" "X" "38145810" "38145824" "del" "0" "01943" "RPGR_000036" "g.38145810_38145824del" "" "" "" "RPGR(NM_001034853.1):c.2447_2461del (p.(Gly816_Glu820del)), RPGR(NM_001034853.1):c.2447_2461delGAGGGGAAGTAGAGG (p.G816_E820del), RPGR(NM_001034853...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286557_38286571del" "" "likely benign" "" "0000575825" "0" "90" "X" "38146018" "38146019" "del" "0" "02330" "RPGR_000064" "g.38146018_38146019del" "" "" "" "RPGR(NM_001034853.2):c.2236_2237delGA (p.E746Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000575826" "0" "30" "X" "38146024" "38146024" "subst" "0" "02330" "RPGR_000037" "g.38146024C>A" "" "" "" "RPGR(NM_001034853.1):c.2228G>T (p.(Gly743Val)), RPGR(NM_001034853.2):c.2228G>T (p.G743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286771C>A" "" "likely benign" "" "0000575827" "0" "90" "X" "38146184" "38146184" "subst" "0" "01943" "RPGR_000114" "g.38146184C>A" "" "" "" "RPGR(NM_001034853.1):c.2068G>T (p.G690*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286931C>A" "" "pathogenic" "" "0000575828" "0" "10" "X" "38146195" "38146195" "subst" "0.00412313" "02330" "RPGR_000038" "g.38146195A>T" "" "" "" "RPGR(NM_001034853.1):c.2057T>A (p.M686K, p.(Met686Lys)), RPGR(NM_001034853.2):c.2057T>A (p.M686K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286942A>T" "" "benign" "" "0000575829" "0" "10" "X" "38146195" "38146195" "subst" "0.00412313" "01943" "RPGR_000038" "g.38146195A>T" "" "" "" "RPGR(NM_001034853.1):c.2057T>A (p.M686K, p.(Met686Lys)), RPGR(NM_001034853.2):c.2057T>A (p.M686K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286942A>T" "" "benign" "" "0000575830" "0" "90" "X" "38146458" "38146458" "dup" "0" "01943" "RPGR_000115" "g.38146458dup" "" "" "" "RPGR(NM_001034853.1):c.1796dupA (p.N599Kfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38287205dup" "" "pathogenic" "" "0000575831" "0" "30" "X" "38146508" "38146508" "subst" "0.000223209" "01943" "RPGR_000040" "g.38146508G>C" "" "" "" "RPGR(NM_001034853.1):c.1754-10C>G, RPGR(NM_001034853.2):c.1754-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38287255G>C" "" "likely benign" "" "0000575832" "0" "90" "X" "38147306" "38147306" "subst" "0" "02327" "RPGR_000116" "g.38147306T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38288053T>C" "" "pathogenic" "" "0000575833" "0" "90" "X" "38150223" "38150223" "subst" "0" "02327" "RPGR_000093" "g.38150223G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38290970G>A" "" "pathogenic" "" "0000575834" "0" "30" "X" "38150640" "38150640" "subst" "1.14561E-5" "02330" "RPGR_000117" "g.38150640C>G" "" "" "" "RPGR(NM_001034853.2):c.1506+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38291387C>G" "" "likely benign" "" "0000575835" "0" "70" "X" "38158210" "38158214" "dup" "0" "02330" "RPGR_000118" "g.38158210_38158214dup" "" "" "" "RPGR(NM_001034853.2):c.1245_1245+1insAGAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38298957_38298961dup" "" "likely pathogenic" "" "0000575836" "0" "30" "X" "38158278" "38158278" "subst" "0.000532001" "01943" "RPGR_000119" "g.38158278C>G" "" "" "" "RPGR(NM_001034853.1):c.1176G>C (p.P392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38299025C>G" "" "likely benign" "" "0000575838" "0" "30" "X" "38158356" "38158356" "subst" "6.76991E-5" "01943" "RPGR_000121" "g.38158356A>G" "" "" "" "RPGR(NM_001034853.1):c.1098T>C (p.A366=), RPGR(NM_001034853.2):c.1098T>C (p.A366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38299103A>G" "" "likely benign" "" "0000575840" "0" "30" "X" "38163942" "38163942" "subst" "0" "02330" "RPGR_000122" "g.38163942C>T" "" "" "" "RPGR(NM_001034853.2):c.880G>A (p.D294N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38304689C>T" "" "likely benign" "" "0000575841" "0" "50" "X" "38169878" "38169880" "del" "0" "02330" "RPGR_000123" "g.38169878_38169880del" "" "" "" "RPGR(NM_001034853.2):c.768_770delGGT (p.V257del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38310625_38310627del" "" "VUS" "" "0000575842" "0" "50" "X" "38176617" "38176617" "subst" "0" "01943" "RPGR_000124" "g.38176617G>A" "" "" "" "RPGR(NM_001034853.1):c.571C>T (p.P191S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38317364G>A" "" "VUS" "" "0000575843" "0" "50" "X" "38176683" "38176683" "subst" "0" "01804" "RPGR_000125" "g.38176683C>T" "" "" "" "RPGR(NM_000328.2):c.505G>A (p.(Glu169Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38317430C>T" "" "VUS" "" "0000575844" "0" "90" "X" "38176705" "38176706" "del" "0" "01943" "RPGR_000069" "g.38176705_38176706del" "" "" "" "RPGR(NM_001034853.1):c.485_486delTT (p.F162Yfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38317452_38317453del" "" "pathogenic" "" "0000575845" "0" "50" "X" "38178112" "38178112" "subst" "0" "02327" "RPGR_000126" "g.38178112C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38318859C>G" "" "VUS" "" "0000575846" "0" "70" "X" "38178162" "38178162" "subst" "0" "02330" "RPGR_000127" "g.38178162A>C" "" "" "" "RPGR(NM_001034853.1):c.389T>G (p.F130C), RPGR(NM_001034853.2):c.389T>G (p.F130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38318909A>C" "" "likely pathogenic" "" "0000575847" "0" "90" "X" "38178162" "38178162" "subst" "0" "01943" "RPGR_000127" "g.38178162A>C" "" "" "" "RPGR(NM_001034853.1):c.389T>G (p.F130C), RPGR(NM_001034853.2):c.389T>G (p.F130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38318909A>C" "" "pathogenic" "" "0000575848" "0" "50" "X" "38178178" "38178178" "subst" "5.59776E-5" "02330" "RPGR_000052" "g.38178178C>T" "" "" "" "RPGR(NM_001034853.1):c.373G>A (p.E125K), RPGR(NM_001034853.2):c.373G>A (p.E125K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38318925C>T" "" "VUS" "" "0000575850" "0" "10" "X" "38182665" "38182665" "subst" "0.000510497" "02330" "RPGR_000057" "g.38182665A>C" "" "" "" "RPGR(NM_001034853.1):c.141T>G (p.S47=), RPGR(NM_001034853.2):c.141T>G (p.S47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38323412A>C" "" "benign" "" "0000575851" "0" "70" "X" "38182776" "38182779" "del" "0" "02330" "RPGR_000128" "g.38182776_38182779del" "" "" "" "RPGR(NM_001034853.2):c.29-2_30delAGAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38323523_38323526del" "" "likely pathogenic" "" "0000619517" "0" "70" "X" "38145038" "38145044" "del" "0" "02327" "RPGR_000029" "g.38145038_38145044del" "" "" "" "RPGR(NM_001034853.2):c.3212_3218delAGACAGG (p.E1071Afs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38285785_38285791del" "" "likely pathogenic" "" "0000619518" "0" "30" "X" "38145159" "38145159" "subst" "0" "01943" "RPGR_000129" "g.38145159C>T" "" "" "" "RPGR(NM_001034853.1):c.3093G>A (p.E1031=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38285906C>T" "" "likely benign" "" "0000619519" "0" "90" "X" "38145909" "38145909" "del" "0" "01943" "RPGR_000130" "g.38145909del" "" "" "" "RPGR(NM_001034853.1):c.2346delG (p.K783Rfs*32), RPGR(NM_001034853.2):c.2346delG (p.K783Rfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286656del" "" "pathogenic" "" "0000619520" "0" "30" "X" "38146198" "38146198" "subst" "0" "01943" "RPGR_000131" "g.38146198T>C" "" "" "" "RPGR(NM_001034853.1):c.2054A>G (p.E685G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38286945T>C" "" "likely benign" "" "0000619521" "0" "30" "X" "38147269" "38147269" "subst" "0.019054" "01804" "RPGR_000005" "g.38147269G>A" "" "" "" "RPGR(NM_000328.2):c.1598C>T (p.(Thr533Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38288016G>A" "" "likely benign" "" "0000619522" "0" "90" "X" "38156606" "38156606" "subst" "0" "02327" "RPGR_000132" "g.38156606G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38297353G>A" "" "pathogenic" "" "0000619523" "0" "30" "X" "38158323" "38158323" "subst" "3.3694E-5" "02330" "RPGR_000133" "g.38158323G>A" "" "" "" "RPGR(NM_001034853.2):c.1131C>T (p.F377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38299070G>A" "" "likely benign" "" "0000619524" "0" "10" "X" "38163917" "38163917" "subst" "0.000901058" "02330" "RPGR_000134" "g.38163917C>G" "" "" "" "RPGR(NM_001034853.2):c.905G>C (p.C302S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38304664C>G" "" "benign" "" "0000619525" "0" "30" "X" "38178134" "38178134" "subst" "5.59995E-6" "01943" "RPGR_000135" "g.38178134C>T" "" "" "" "RPGR(NM_001034853.1):c.417G>A (p.E139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38318881C>T" "" "likely benign" "" "0000619526" "0" "50" "X" "38182647" "38182647" "subst" "0" "02327" "RPGR_000136" "g.38182647C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38323394C>T" "" "VUS" "" "0000619527" "0" "10" "X" "38182792" "38182792" "subst" "0.215762" "02327" "RPGR_000137" "g.38182792C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38323539C>T" "" "benign" "" "0000624601" "0" "90" "X" "38145243" "38145244" "del" "0" "02330" "RPGR_000060" "g.38145243_38145244del" "" "" "" "RPGR(NM_001034853.2):c.3011_3012delAG (p.E1004Gfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38285990_38285991del" "" "pathogenic" "" "0000624602" "0" "30" "X" "38158356" "38158356" "subst" "6.76991E-5" "02330" "RPGR_000121" "g.38158356A>G" "" "" "" "RPGR(NM_001034853.1):c.1098T>C (p.A366=), RPGR(NM_001034853.2):c.1098T>C (p.A366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38299103A>G" "" "likely benign" "" "0000632001" "0" "90" "X" "38147205" "38147208" "del" "0" "00006" "RPGR_000138" "g.38147205_38147208del" "" "{PMID:Kastner 2015:26720455}" "" "1662_1665delAGAA" "" "Germline" "yes" "" "0" "" "" "g.38287952_38287955del" "" "pathogenic" "" "0000653422" "0" "70" "X" "38146079" "38146079" "subst" "0" "01164" "RPGR_000139" "g.38146079G>A" "" "" "" "" "ACMG: PVS1,PM2; clinical retinitis pigmentosa, x-linked" "Germline" "" "" "0" "" "" "g.38286826G>A" "" "likely pathogenic" "ACMG" "0000653484" "3" "90" "X" "38156671" "38156672" "del" "0" "01807" "RPGR_000140" "g.38156671_38156672del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38297418_38297419del" "" "pathogenic" "" "0000659279" "0" "10" "X" "38131859" "38131860" "dup" "0" "02330" "RPGR_000141" "g.38131859_38131860dup" "" "" "" "RPGR(NM_000328.2):c.2241+792_2241+793dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38272606_38272607dup" "" "benign" "" "0000659280" "0" "90" "X" "38146458" "38146458" "dup" "0" "02327" "RPGR_000115" "g.38146458dup" "" "" "" "RPGR(NM_001034853.1):c.1796dupA (p.N599Kfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38287205dup" "" "pathogenic" "" "0000659281" "0" "30" "X" "38147268" "38147268" "subst" "5.62177E-6" "01943" "RPGR_000142" "g.38147268C>T" "" "" "" "RPGR(NM_001034853.1):c.1599G>A (p.T533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38288015C>T" "" "likely benign" "" "0000659282" "0" "50" "X" "38169865" "38169865" "subst" "0" "01943" "RPGR_000143" "g.38169865T>C" "" "" "" "RPGR(NM_001034853.1):c.778+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38310612T>C" "" "VUS" "" "0000660675" "0" "70" "X" "38146079" "38146079" "subst" "0" "01164" "RPGR_000139" "g.38146079G>A" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.38286826G>A" "" "likely pathogenic" "ACMG" "0000664345" "0" "70" "X" "38182668" "38182668" "del" "0" "01848" "RPGR_000144" "g.38182668del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38323415del" "" "likely pathogenic" "ACMG" "0000664346" "0" "70" "X" "38158340" "38158349" "del" "0" "01848" "RPGR_000145" "g.38158340_38158349del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38299087_38299096del" "" "likely pathogenic" "ACMG" "0000664347" "20" "70" "X" "38156668" "38156668" "dup" "0" "01848" "RPGR_000146" "g.38156668dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38297415dup" "" "likely pathogenic" "ACMG" "0000664348" "20" "70" "X" "38129016" "38129016" "del" "0" "01848" "RPGR_000147" "g.38129016del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38269763del" "" "likely pathogenic" "ACMG" "0000664349" "20" "70" "X" "38182105" "38182105" "subst" "0" "01848" "RPGR_000150" "g.38182105C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38322852C>T" "" "likely pathogenic" "ACMG" "0000664350" "20" "70" "X" "38132646" "38132649" "del" "0" "01848" "RPGR_000151" "g.38132646_38132649del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38273393_38273396del" "" "likely pathogenic" "ACMG" "0000664351" "20" "70" "X" "38160499" "38160499" "subst" "0" "01848" "RPGR_000152" "g.38160499C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38301246C>T" "" "likely pathogenic" "ACMG" "0000664352" "20" "70" "X" "38156708" "38156708" "subst" "0" "01848" "RPGR_000149" "g.38156708T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38297455T>C" "" "likely pathogenic" "ACMG" "0000664353" "20" "70" "X" "38182115" "38182116" "del" "0" "01848" "RPGR_000148" "g.38182115_38182116del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38322862_38322863del" "" "likely pathogenic" "ACMG" "0000682409" "0" "70" "X" "38144863" "38144863" "subst" "0" "02330" "RPGR_000153" "g.38144863A>C" "" "" "" "RPGR(NM_001034853.2):c.3389T>G (p.L1130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000682410" "0" "90" "X" "38144941" "38144941" "dup" "0" "02327" "RPGR_000154" "g.38144941dup" "" "" "" "RPGR(NM_001034853.1):c.3317dupA (p.S1107Vfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682411" "0" "30" "X" "38145069" "38145071" "del" "0" "01943" "RPGR_000076" "g.38145069_38145071del" "" "" "" "RPGR(NM_001034853.1):c.3189_3191delGGA (p.E1066del), RPGR(NM_001034853.2):c.3189_3191delGGA (p.E1066del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682412" "0" "30" "X" "38147259" "38147259" "subst" "0.000168376" "01943" "RPGR_000041" "g.38147259T>A" "" "" "" "RPGR(NM_001034853.1):c.1608A>T (p.T536=), RPGR(NM_001034853.2):c.1608A>T (p.T536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682413" "0" "90" "X" "38163971" "38163971" "subst" "0" "02327" "RPGR_000155" "g.38163971G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682414" "0" "70" "X" "38169894" "38169894" "subst" "0" "02327" "RPGR_000156" "g.38169894C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000682415" "0" "90" "X" "38182199" "38182199" "subst" "0" "02327" "RPGR_000157" "g.38182199C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682416" "0" "30" "X" "38186612" "38186612" "subst" "8.01366E-5" "01943" "RPGR_000158" "g.38186612C>T" "" "" "" "RPGR(NM_001034853.1):c.9G>A (p.E3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684575" "1" "70" "X" "38178203" "38178210" "del" "0" "00004" "RPGR_000175" "g.38178203_38178210del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "c.341_348del8" "" "Germline" "" "" "0" "" "" "g.38318950_38318957del" "" "likely pathogenic" "" "0000684576" "1" "70" "X" "38145846" "38145847" "del" "0" "00004" "RPGR_000187" "g.38145846_38145847del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.38286593_38286594del" "" "likely pathogenic" "" "0000684577" "1" "70" "X" "38145825" "38145826" "del" "0" "00004" "RPGR_000164" "g.38145825_38145826del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "NM_000328.2:c.1905+521_1905+522del" "" "Germline" "" "" "0" "" "" "g.38286572_38286573del" "" "likely pathogenic" "" "0000685440" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001034853.1:c.248_1414del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685441" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001034853.1:c.29_310del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685442" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001034853.1:c.779_1414del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685443" "0" "90" "X" "38145155" "38145156" "del" "0" "00004" "RPGR_000159" "g.38145155_38145156del" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.3096_3097delGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685444" "0" "90" "X" "38145155" "38145156" "del" "0" "00004" "RPGR_000159" "g.38145155_38145156del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.3096_3097delGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685445" "0" "90" "X" "38145155" "38145156" "del" "0" "00004" "RPGR_000159" "g.38145155_38145156del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.3096_3097delGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685446" "20" "90" "X" "38145287" "38145288" "del" "0" "00004" "RPGR_000160" "g.38145287_38145288del" "1/2420 IRD families" "{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}" "" "2964_5delGG (G998Gfs*88)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685447" "20" "90" "X" "38145455" "38145455" "del" "0" "00004" "RPGR_000161" "g.38145455del" "1/2420 IRD families" "{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}" "" "2797delG (E943Kfs*155)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685448" "0" "90" "X" "38145461" "38145462" "del" "0" "00004" "RPGR_000162" "g.38145461_38145462del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.2790_2791delGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685449" "0" "90" "X" "38145479" "38145480" "dup" "0" "00004" "RPGR_000163" "g.38145479_38145480dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685450" "20" "90" "X" "38145846" "38145847" "del" "0" "00004" "RPGR_000187" "g.38145846_38145847del" "1/2420 IRD families" "{PMID:Kimchi 2018:29276052}, {PMID:Sharon 2019:31456290}" "" "2405_6delAG (E802Gfs*31)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685451" "0" "90" "X" "38145980" "38145980" "subst" "0" "00004" "RPGR_000165" "g.38145980C>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685452" "0" "90" "X" "38146028" "38146031" "del" "0" "00004" "RPGR_000166" "g.38146028_38146031del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685453" "0" "90" "X" "38146079" "38146079" "subst" "0" "00004" "RPGR_000139" "g.38146079G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685454" "0" "90" "X" "38146229" "38146229" "subst" "0" "00004" "RPGR_000167" "g.38146229C>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685455" "0" "90" "X" "38150211" "38150211" "subst" "0" "00004" "RPGR_000168" "g.38150211C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685456" "0" "90" "X" "38156617" "38156617" "subst" "0" "00004" "RPGR_000169" "g.38156617G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685457" "0" "90" "X" "38158210" "38158211" "del" "0" "00004" "RPGR_000170" "g.38158210_38158211del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.1243_1244delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685458" "0" "90" "X" "38163925" "38163925" "dup" "0" "00004" "RPGR_000171" "g.38163925dup" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.897dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685459" "0" "90" "X" "38163999" "38163999" "subst" "0" "00004" "RPGR_000172" "g.38163999C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685460" "0" "90" "X" "38176596" "38176596" "subst" "0" "00004" "RPGR_000173" "g.38176596C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685461" "0" "70" "X" "38176694" "38176694" "subst" "0" "00004" "RPGR_000174" "g.38176694C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685462" "0" "90" "X" "38180331" "38180331" "subst" "0" "00004" "RPGR_000176" "g.38180331C>A" "9/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685463" "0" "70" "X" "38182151" "38182151" "subst" "0" "00004" "RPGR_000177" "g.38182151C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000686017" "20" "90" "X" "38145461" "38145462" "del" "0" "00006" "RPGR_000162" "g.38145461_38145462del" "" "{PMID:Kimchi 2018:29276052}" "" "1037_1038delGG (G930fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000693575" "0" "50" "X" "38129049" "38129049" "subst" "0" "01943" "RPGR_000178" "g.38129049T>A" "" "" "" "RPGR(NM_000328.2):c.2278A>T (p.K760*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693576" "0" "90" "X" "38145160" "38145160" "del" "0" "02330" "RPGR_000179" "g.38145160del" "" "" "" "RPGR(NM_001034853.2):c.3092delA (p.E1031Gfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693577" "0" "30" "X" "38145180" "38145191" "dup" "0" "02330" "RPGR_000180" "g.38145180_38145191dup" "" "" "" "RPGR(NM_001034853.2):c.3074_3085dupTGGAAGGGGAGG (p.V1025_E1028dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710265" "20" "90" "X" "38146392" "38146393" "del" "0" "00006" "RPGR_000106" "g.38146392_38146393del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "1859_1860delAG" "ACMG PVS1, PM2, PP4" "Germline" "" "" "0" "" "" "g.38287139_38287140del" "" "pathogenic" "ACMG" "0000712305" "21" "90" "X" "38178162" "38178162" "subst" "0" "00000" "RPGR_000127" "g.38178162A>C" "" "{PMID:Roepman 1996:8817343}" "" "" "not in 84 male controls" "Germline" "" "" "0" "" "" "g.38318909A>C" "" "pathogenic" "" "0000712306" "21" "90" "X" "38169943" "38169943" "subst" "0" "00000" "RPGR_000289" "g.38169943G>A" "" "{PMID:Roepman 1996:8817343}" "" "" "not in 84 male controls" "Germline" "" "" "0" "" "" "g.38310690G>A" "" "pathogenic" "" "0000712307" "21" "90" "X" "38163999" "38163999" "subst" "0" "00000" "RPGR_000172" "g.38163999C>T" "" "{PMID:Roepman 1996:8817343}" "" "" "not in 84 male controls" "Germline" "" "" "0" "" "" "g.38304746C>T" "" "pathogenic" "" "0000712308" "21" "90" "X" "38163999" "38163999" "subst" "0" "00000" "RPGR_000172" "g.38163999C>T" "" "{PMID:Roepman 1996:8817343}" "" "" "not in 84 male controls" "Germline" "" "" "0" "" "" "g.38304746C>T" "" "pathogenic" "" "0000712309" "21" "90" "X" "38156549" "38156552" "del" "0" "00000" "RPGR_000252" "g.38156549_38156552del" "" "{PMID:Roepman 1996:8817343}" "" "" "not in 84 male controls" "Germline" "" "" "0" "" "" "g.38297296_38297299del" "" "pathogenic" "" "0000712310" "21" "90" "X" "38158206" "38158206" "subst" "0" "00000" "RPGR_000258" "g.38158206T>C" "" "{PMID:Fujita 1997:9326322}" "" "" "" "Germline" "" "" "0" "" "" "g.38298953T>C" "" "pathogenic (recessive)" "" "0000712311" "1" "90" "X" "38147302" "38147302" "subst" "0" "00000" "RPGR_000243" "g.38147302T>C" "" "{PMID:Fujita 1997:9326322}" "" "" "" "Germline" "" "" "0" "" "" "g.38288049T>C" "" "pathogenic (recessive)" "" "0000712312" "1" "90" "X" "38146346" "38147295" "del" "0" "00000" "RPGR_000183" "g.(38136026_38146346)_(38147295_38150211)del" "" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "del ex14-15" "" "Germline" "" "" "0" "" "" "g.(38276773_38287093)_(38288042_38290958)del" "" "pathogenic (recessive)" "" "0000712313" "1" "90" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000312" "g.38182652C>A" "" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "213G>T" "" "Germline" "" "" "0" "" "" "g.38323399C>A" "" "pathogenic" "" "0000712314" "1" "90" "X" "38180296" "38180296" "subst" "0" "00000" "RPGR_000303" "g.38180296G>T" "" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "353C>A" "" "Germline" "" "" "0" "" "" "g.38321043G>T" "" "pathogenic (recessive)" "" "0000712315" "1" "90" "X" "38176607" "38176607" "subst" "0" "00000" "RPGR_000292" "g.38176607C>T" "" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "640G>A" "" "Germline" "" "" "0" "" "" "g.38317354C>T" "" "pathogenic" "" "0000712316" "1" "90" "X" "38170002" "38170002" "subst" "0" "00000" "RPGR_000290" "g.38170002C>A" "" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "703G>T" "" "Germline" "" "" "0" "" "" "g.38310749C>A" "" "pathogenic" "" "0000712317" "1" "90" "X" "38169898" "38169898" "subst" "0" "00000" "RPGR_000285" "g.38169898A>G" "" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "807T>C" "" "Germline" "" "" "0" "" "" "g.38310645A>G" "" "pathogenic" "" "0000712318" "1" "90" "X" "38163922" "38163936" "del" "0" "00000" "RPGR_000274" "g.38163922_38163936del" "" "{PMID:Meindl 1996:8673101}, {PMID:Bader 2003:12657579}" "" "945-959del" "" "Germline" "" "" "0" "" "" "g.38304669_38304683del" "" "pathogenic (recessive)" "" "0000712319" "1" "90" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000312" "g.38182652C>A" "" "{PMID:Buraczynska 1997:9399904}" "" "213G>T" "" "Germline" "" "" "0" "" "" "g.38323399C>A" "" "pathogenic (recessive)" "" "0000712320" "1" "90" "X" "38176696" "38176696" "subst" "0" "00000" "RPGR_000294" "g.38176696C>T" "" "{PMID:Buraczynska 1997:9399904}" "" "551G>A" "" "Germline" "" "" "0" "" "" "g.38317443C>T" "" "pathogenic (recessive)" "" "0000712321" "1" "90" "X" "38169940" "38169940" "subst" "0" "00000" "RPGR_000288" "g.38169940G>A" "" "{PMID:Buraczynska 1997:9399904}" "" "765C>T" "" "Germline" "" "" "0" "" "" "g.38310687G>A" "" "pathogenic (recessive)" "" "0000712322" "1" "90" "X" "38158334" "38158334" "subst" "0" "00000" "RPGR_000263" "g.38158334C>A" "" "{PMID:Buraczynska 1997:9399904}" "" "1179G>T" "" "Germline" "" "" "0" "" "" "g.38299081C>A" "" "pathogenic (recessive)" "" "0000712323" "1" "90" "X" "38182174" "38182174" "subst" "0" "00000" "RPGR_000055" "g.38182174C>A" "" "{PMID:Buraczynska 1997:9399904}" "" "238G>T" "" "Germline" "" "" "0" "" "" "g.38322921C>A" "" "pathogenic (recessive)" "" "0000712324" "1" "90" "X" "38182174" "38182174" "subst" "0" "00000" "RPGR_000055" "g.38182174C>A" "" "{PMID:Buraczynska 1997:9399904}" "" "238G>T" "" "Germline" "" "" "0" "" "" "g.38322921C>A" "" "pathogenic (recessive)" "" "0000712325" "1" "90" "X" "38178180" "38178180" "del" "0" "00000" "RPGR_000299" "g.38178180del" "" "{PMID:Buraczynska 1997:9399904}" "" "430delC" "" "Germline" "" "" "0" "" "" "g.38318927del" "" "pathogenic (recessive)" "" "0000712326" "1" "90" "X" "38163953" "38163953" "del" "0" "00000" "RPGR_000276" "g.38163953del" "" "{PMID:Buraczynska 1997:9399904}" "" "928delA" "" "Germline" "" "" "0" "" "" "g.38304700del" "" "pathogenic (recessive)" "" "0000712327" "1" "90" "X" "38163953" "38163953" "del" "0" "00000" "RPGR_000276" "g.38163953del" "" "{PMID:Buraczynska 1997:9399904}" "" "928delA" "" "Germline" "" "" "0" "" "" "g.38304700del" "" "pathogenic (recessive)" "" "0000712329" "1" "90" "X" "38158208" "38164044" "del" "0" "00000" "RPGR_000182" "g.(38156706_38158208)_(38164044_38169867)del" "" "{PMID:Buraczynska 1997:9399904}" "" "del ex8-10" "" "Germline" "" "" "0" "" "" "g.(38297453_38298955)_(38304791_38310614)del" "" "pathogenic (recessive)" "" "0000712330" "1" "90" "X" "38156672" "38156690" "del" "0" "00000" "RPGR_000256" "g.38156672_38156690del" "" "{PMID:Buraczynska 1997:9399904}" "" "del1320/1338" "" "Germline" "" "" "0" "" "" "g.38297419_38297437del" "" "pathogenic (recessive)" "" "0000712331" "1" "90" "X" "38150276" "38150277" "del" "0" "00000" "RPGR_000246" "g.38150276_38150277del" "" "{PMID:Buraczynska 1997:9399904}" "" "del1571/1572CA" "" "Germline" "" "" "0" "" "" "g.38291023_38291024del" "" "pathogenic (recessive)" "" "0000712332" "1" "90" "X" "38147287" "38147290" "del" "0" "00000" "RPGR_000241" "g.38147287_38147290del" "" "{PMID:Buraczynska 1997:9399904}" "" "del1641/1644ACAA" "" "Germline" "" "" "0" "" "" "g.38288034_38288037del" "" "pathogenic (recessive)" "" "0000712333" "1" "90" "X" "38180277" "38180277" "subst" "0" "00000" "RPGR_000301" "g.38180277T>C" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS4+3A>G" "" "Germline" "" "" "0" "" "" "g.38321024T>C" "" "pathogenic (recessive)" "" "0000712334" "1" "90" "X" "38169863" "38169863" "subst" "5.60994E-6" "00000" "RPGR_000281" "g.38169863C>T" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS7+5G>A" "" "Germline" "" "" "0" "" "" "g.38310610C>T" "" "pathogenic (recessive)" "" "0000712335" "1" "30" "X" "38182130" "38182130" "subst" "0.0156032" "00000" "RPGR_000010" "g.38182130T>C" "" "{PMID:Buraczynska 1997:9399904}" "" "282A>G;844C>G p.(Ile75Val;p.(Ala262Gly)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000712336" "1" "30" "X" "38158290" "38158290" "subst" "0.109585" "00000" "RPGR_000001" "g.38158290C>T" "" "{PMID:Buraczynska 1997:9399904}" "" "1223G>A" "" "Germline" "" "" "0" "" "" "g.38299037C>T" "" "likely benign" "" "0000712337" "1" "30" "X" "38156677" "38156677" "subst" "0.102089" "00000" "RPGR_000002" "g.38156677C>T" "" "{PMID:Buraczynska 1997:9399904}" "" "1333G>A" "" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "likely benign" "" "0000712338" "1" "30" "X" "38156660" "38156660" "subst" "0.0792322" "00000" "RPGR_000003" "g.38156660T>C" "" "{PMID:Buraczynska 1997:9399904}" "" "1350A>G" "" "Germline" "" "" "0" "" "" "g.38297407T>C" "" "likely benign" "" "0000712339" "1" "30" "X" "38147170" "38147170" "subst" "0.102629" "00000" "RPGR_000006" "g.38147170C>T" "" "{PMID:Buraczynska 1997:9399904}" "" "1756G>A" "" "Germline" "" "" "0" "" "" "g.38287917C>T" "" "likely benign" "" "0000712340" "1" "30" "X" "38182792" "38182792" "subst" "0.215762" "00000" "RPGR_000137" "g.38182792C>T" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS1-15G>A" "" "Germline" "" "" "0" "" "" "g.38323539C>T" "" "likely benign" "" "0000712341" "1" "30" "X" "38150345" "38150345" "subst" "0" "00000" "RPGR_000247" "g.38150345A>G" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS12-68T>C" "" "Germline" "" "" "0" "" "" "g.38291092A>G" "" "likely benign" "" "0000712342" "1" "30" "X" "38150374" "38150374" "subst" "0" "00000" "RPGR_000248" "g.38150374A>G" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS12-97T>C" "" "Germline" "" "" "0" "" "" "g.38291121A>G" "" "likely benign" "" "0000712343" "1" "30" "X" "38150201" "38150201" "subst" "0.0991745" "00000" "RPGR_000244" "g.38150201T>C" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS13+11A>G" "" "Germline" "" "" "0" "" "" "g.38290948T>C" "" "likely benign" "" "0000712344" "1" "30" "X" "38132628" "38132628" "subst" "0.19848" "00000" "RPGR_000015" "g.38132628A>G" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS18+11T>C" "" "Germline" "" "" "0" "" "" "g.38273375A>G" "" "likely benign" "" "0000712345" "1" "30" "X" "38158193" "38158193" "subst" "0.124031" "00000" "RPGR_000257" "g.38158193T>C" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS10+16A>G" "" "Germline" "" "" "0" "" "" "g.38298940T>C" "" "likely benign" "" "0000712346" "1" "30" "X" "38146329" "38146329" "del" "0" "00000" "RPGR_000238" "g.38146329del" "" "{PMID:Buraczynska 1997:9399904}" "" "IVS15+18delA" "" "Germline" "" "" "0" "" "" "g.38287076del" "" "likely benign" "" "0000712347" "1" "90" "X" "38150276" "38150277" "del" "0" "00000" "RPGR_000246" "g.38150276_38150277del" "" "{PMID:Fishman 1998:9488274}" "" "1571-1572delCA" "" "Germline" "" "" "0" "" "" "g.38291023_38291024del" "" "pathogenic (recessive)" "" "0000712348" "1" "90" "X" "38180297" "38180298" "dup" "0" "00000" "RPGR_000304" "g.38180297_38180298dup" "" "{PMID:Weleber 1997:9366675}" "" "295-296insCA" "" "Germline" "" "" "0" "" "" "g.38321044_38321045dup" "" "pathogenic (recessive)" "" "0000712349" "1" "90" "X" "38180294" "38180294" "subst" "0" "00000" "RPGR_000302" "g.38180294G>T" "" "{PMID:Miano 1999:10482958}" "" "355C>A" "" "Germline" "" "" "0" "" "" "g.38321041G>T" "" "pathogenic (recessive)" "" "0000712350" "1" "90" "X" "38163957" "38163957" "subst" "0.000124097" "00000" "RPGR_000277" "g.38163957T>C" "" "{PMID:Miano 1999:10482958}" "" "924A>G" "" "Germline" "" "" "0" "" "" "g.38304704T>C" "" "pathogenic (recessive)" "" "0000712351" "1" "90" "X" "38182115" "38182116" "del" "0" "00000" "RPGR_000148" "g.38182115_38182116del" "" "{PMID:Miano 1999:10482958}" "" "296-297delAT" "" "Germline" "" "" "0" "" "" "g.38322862_38322863del" "" "pathogenic (recessive)" "" "0000712352" "1" "90" "X" "38176706" "38176706" "del" "0" "00000" "RPGR_000295" "g.38176706del" "" "{PMID:Miano 1999:10482958}" "" "545delT" "" "Germline" "" "" "0" "" "" "g.38317453del" "" "pathogenic (recessive)" "" "0000712353" "1" "90" "X" "38176706" "38176706" "del" "0" "00000" "RPGR_000295" "g.38176706del" "" "{PMID:Miano 1999:10482958}" "" "545delT" "" "Germline" "" "" "0" "" "" "g.38317453del" "" "pathogenic (recessive)" "" "0000712354" "1" "90" "X" "38182200" "38182200" "subst" "0" "00000" "RPGR_000193" "g.38182200T>C" "" "{PMID:Miano 1999:10482958}" "" "IVS2-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000712355" "1" "90" "X" "38163887" "38163887" "subst" "0" "00000" "RPGR_000270" "g.38163887C>T" "" "{PMID:Miano 1999:10482958}" "" "IVS8+1G>A" "" "Germline" "" "" "0" "" "" "g.38304634C>T" "" "pathogenic (recessive)" "" "0000712356" "1" "90" "X" "38147296" "38147296" "subst" "0" "00000" "RPGR_000242" "g.38147296T>C" "" "{PMID:Miano 1999:10482958}" "" "IVS13-2A>G" "" "Germline" "" "" "0" "" "" "g.38288043T>C" "" "pathogenic (recessive)" "" "0000712357" "1" "10" "X" "38182665" "38182665" "subst" "0.000510497" "00000" "RPGR_000057" "g.38182665A>C" "0.043" "{PMID:Miano 1999:10482958}" "" "200T>G" "" "Germline" "" "" "0" "" "" "g.38323412A>C" "" "benign" "" "0000712358" "1" "10" "X" "38169914" "38169914" "subst" "0.00193277" "00000" "RPGR_000007" "g.38169914C>T" "0.033" "{PMID:Miano 1999:10482958}" "" "791G>A" "" "Germline" "" "" "0" "" "" "g.38310661C>T" "" "benign" "" "0000712359" "1" "10" "X" "38158290" "38158290" "subst" "0.109585" "00000" "RPGR_000001" "g.38158290C>T" "0.112" "{PMID:Miano 1999:10482958}" "" "1223G>A" "" "Germline" "" "" "0" "" "" "g.38299037C>T" "" "benign" "" "0000712360" "1" "10" "X" "38156677" "38156677" "subst" "0.102089" "00000" "RPGR_000002" "g.38156677C>T" "0.034" "{PMID:Miano 1999:10482958}" "" "1333G>A" "" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "benign" "" "0000712361" "1" "10" "X" "38156660" "38156660" "subst" "0.0792322" "00000" "RPGR_000003" "g.38156660T>C" "0.034" "{PMID:Miano 1999:10482958}" "" "1350A>G" "" "Germline" "" "" "0" "" "" "g.38297407T>C" "" "benign" "" "0000712362" "1" "10" "X" "38147269" "38147269" "subst" "0.019054" "00000" "RPGR_000005" "g.38147269G>A" "0.001" "{PMID:Miano 1999:10482958}" "" "1657C>T" "" "Germline" "" "" "0" "" "" "g.38288016G>A" "" "benign" "" "0000712363" "1" "10" "X" "38147170" "38147170" "subst" "0.102629" "00000" "RPGR_000006" "g.38147170C>T" "0.056" "{PMID:Miano 1999:10482958}" "" "1756G>A" "" "Germline" "" "" "0" "" "" "g.38287917C>T" "" "benign" "" "0000712364" "1" "10" "X" "38182792" "38182792" "subst" "0.215762" "00000" "RPGR_000137" "g.38182792C>T" "0.017" "{PMID:Miano 1999:10482958}" "" "IVS1-15A>G" "" "Germline" "" "" "0" "" "" "g.38323539C>T" "" "benign" "" "0000712365" "1" "10" "X" "38158193" "38158193" "subst" "0.124031" "00000" "RPGR_000257" "g.38158193T>C" "0.050" "{PMID:Miano 1999:10482958}" "" "IVS10+16A>G" "" "Germline" "" "" "0" "" "" "g.38298940T>C" "" "benign" "" "0000712366" "1" "10" "X" "38150378" "38150378" "" "0" "00000" "RPGR_000196" "g.38150378T=" "0.34" "{PMID:Miano 1999:10482958}" "" "IVS12-101T>A" "" "Germline" "" "" "0" "" "" "g.38291125T=" "" "benign" "" "0000712367" "1" "10" "X" "38150407" "38150407" "subst" "0" "00000" "RPGR_000249" "g.38150407A>G" "0.03" "{PMID:Miano 1999:10482958}" "" "IVS12-130T>C" "" "Germline" "" "" "0" "" "" "g.38291154A>G" "" "benign" "" "0000712368" "1" "10" "X" "38150201" "38150201" "subst" "0.0991745" "00000" "RPGR_000244" "g.38150201T>C" "0.03" "{PMID:Miano 1999:10482958}" "" "IVS13+11A>G" "" "Germline" "" "" "0" "" "" "g.38290948T>C" "" "benign" "" "0000712369" "1" "10" "X" "38134296" "38134296" "subst" "0.0374881" "00000" "RPGR_000197" "g.38134296G>A" "0.02" "{PMID:Miano 1999:10482958}" "" "IVS17+46C>T" "" "Germline" "" "" "0" "" "" "g.38275043G>A" "" "benign" "" "0000712370" "1" "10" "X" "38132628" "38132628" "subst" "0.19848" "00000" "RPGR_000015" "g.38132628A>G" "0.27" "{PMID:Miano 1999:10482958}" "" "IVS18+11T>C" "" "Germline" "" "" "0" "" "" "g.38273375A>G" "" "benign" "" "0000712371" "1" "90" "X" "38145256" "38145260" "del" "0" "00000" "RPGR_000205" "g.38145256_38145260del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1239_1243del5" "" "Germline" "" "" "0" "" "" "g.38286003_38286007del" "" "pathogenic" "" "0000712372" "1" "90" "X" "38145159" "38145159" "del" "0" "00000" "RPGR_000200" "g.38145159del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1344delG" "" "Germline" "" "" "0" "" "" "g.38285906del" "" "pathogenic" "" "0000712373" "1" "90" "X" "38145203" "38145204" "del" "0" "00000" "RPGR_000204" "g.38145203_38145204del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1297_1298delAG" "" "Germline" "" "" "0" "" "" "g.38285950_38285951del" "" "pathogenic" "" "0000712374" "1" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+689_692del4" "" "Germline" "" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "" "0000712375" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+652_653delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000712376" "1" "90" "X" "38145523" "38145524" "del" "0" "00000" "RPGR_000217" "g.38145523_38145524del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+977_978delGG" "" "Germline" "" "" "0" "" "" "g.38286270_38286271del" "" "pathogenic" "" "0000712377" "1" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+673_674delAG" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic" "" "0000712378" "1" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+483_484delGA" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000712379" "1" "90" "X" "38145256" "38145260" "del" "0" "00000" "RPGR_000205" "g.38145256_38145260del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1239_1243del5" "" "Germline" "" "" "0" "" "" "g.38286003_38286007del" "" "pathogenic" "" "0000712380" "1" "90" "X" "38145602" "38145602" "subst" "0" "00000" "RPGR_000188" "g.38145602C>A" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+897G>T" "" "Germline" "" "" "0" "" "" "g.38286349C>A" "" "pathogenic" "" "0000712381" "1" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+673_674delAG" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic" "" "0000712382" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+652_653delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000712383" "1" "90" "X" "38145256" "38145260" "del" "0" "00000" "RPGR_000205" "g.38145256_38145260del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1239_1243del5" "" "Germline" "" "" "0" "" "" "g.38286003_38286007del" "" "pathogenic" "" "0000712384" "1" "90" "X" "38145730" "38145730" "del" "0" "00000" "RPGR_000226" "g.38145730del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+769delA" "" "Germline" "" "" "0" "" "" "g.38286477del" "" "pathogenic" "" "0000712385" "1" "90" "X" "38146043" "38146115" "dup" "0" "00000" "RPGR_000235" "g.38146043_38146115dup" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+391_463dup73" "" "Germline" "" "" "0" "" "" "g.38286790_38286862dup" "" "pathogenic" "" "0000712386" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+652_653delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000712387" "1" "90" "X" "38146007" "38146007" "subst" "0" "00000" "RPGR_000234" "g.38146007C>A" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+492G>T" "" "Germline" "" "" "0" "" "" "g.38286754C>A" "" "pathogenic" "" "0000712388" "1" "90" "X" "38180296" "38180296" "subst" "0" "00000" "RPGR_000303" "g.38180296G>T" "" "{PMID:Vervoort 2000:10932196}" "" "353C>A" "" "Germline" "" "" "0" "" "" "g.38321043G>T" "" "pathogenic" "" "0000712389" "1" "90" "X" "38176607" "38176607" "subst" "0" "00000" "RPGR_000292" "g.38176607C>T" "" "{PMID:Vervoort 2000:10932196}" "" "640G>A" "" "Germline" "" "" "0" "" "" "g.38317354C>T" "" "pathogenic" "" "0000712390" "1" "90" "X" "38145695" "38145695" "subst" "0" "00000" "RPGR_000223" "g.38145695C>A" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+804G>T" "" "Germline" "" "" "0" "" "" "g.38286442C>A" "" "pathogenic" "" "0000712391" "1" "90" "X" "38145358" "38145358" "del" "0" "00000" "RPGR_000208" "g.38145358del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1141delA" "" "Germline" "" "" "0" "" "" "g.38286105del" "" "pathogenic" "" "0000712392" "1" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+689_692del4" "" "Germline" "" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "" "0000712393" "1" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+673_674delAG" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic" "" "0000712394" "1" "90" "X" "38178136" "38178136" "subst" "0" "00000" "RPGR_000297" "g.38178136C>A" "" "{PMID:Vervoort 2000:10932196}" "" "474G>T" "" "Germline" "" "" "0" "" "" "g.38318883C>A" "" "pathogenic" "" "0000712395" "1" "90" "X" "38145490" "38145491" "del" "0" "00000" "RPGR_000214" "g.38145490_38145491del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1010_1011delGG" "" "Germline" "" "" "0" "" "" "g.38286237_38286238del" "" "pathogenic" "" "0000712396" "1" "90" "X" "38145852" "38145853" "del" "0" "00000" "RPGR_000231" "g.38145852_38145853del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+647_648delAA" "" "Germline" "" "" "0" "" "" "g.38286599_38286600del" "" "pathogenic" "" "0000712397" "1" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+689_692del4" "" "Germline" "" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "" "0000712398" "1" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+673_674delAG" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic" "" "0000712399" "1" "90" "X" "0" "0" "" "0" "00000" "RPGR_000000" "g.?" "" "{PMID:Vervoort 2000:10932196}" "" "523+1G>T" "variant description makes no sense" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000712400" "1" "90" "X" "38169898" "38169898" "subst" "0" "00000" "RPGR_000285" "g.38169898A>G" "" "{PMID:Vervoort 2000:10932196}" "" "807T>C" "" "Germline" "" "" "0" "" "" "g.38310645A>G" "" "pathogenic" "" "0000712401" "1" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+689_692del4" "" "Germline" "" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "" "0000712402" "1" "90" "X" "38145628" "38145628" "dup" "0" "00000" "RPGR_000221" "g.38145628dup" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+872_873insA" "" "Germline" "" "" "0" "" "" "g.38286375dup" "" "pathogenic" "" "0000712403" "1" "90" "X" "38145523" "38145524" "del" "0" "00000" "RPGR_000217" "g.38145523_38145524del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+977_978delGG" "" "Germline" "" "" "0" "" "" "g.38286270_38286271del" "" "pathogenic" "" "0000712405" "1" "90" "X" "38162571" "38163987" "del" "0" "00000" "RPGR_000185" "g.38162571_38163987del" "" "{PMID:Vervoort 2000:10932196}" "" "g.EX8+57_IVS8+1317del1374" "" "Germline" "" "" "0" "" "" "g.38303318_38304734del" "" "pathogenic" "" "0000712406" "1" "10" "X" "38145851" "38145851" "subst" "0" "00000" "RPGR_000230" "g.38145851T>C" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+648G/A" "" "Germline" "" "" "0" "" "" "g.38286598T>C" "" "benign" "" "0000712407" "1" "10" "X" "38145585" "38145587" "del" "0" "00000" "RPGR_000219" "g.38145585_38145587del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+914_916delGGA" "" "Germline" "" "" "0" "" "" "g.38286332_38286334del" "" "benign" "" "0000712408" "1" "10" "X" "38145190" "38145201" "del" "0" "00000" "RPGR_000202" "g.38145190_38145201del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1307_1318del12" "" "Germline" "" "" "0" "" "" "g.38285937_38285948del" "" "benign" "" "0000712409" "1" "10" "X" "38145180" "38145191" "del" "0" "00000" "RPGR_000201" "g.38145180_38145191del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1321_1332del12" "" "Germline" "" "" "0" "" "" "g.38285927_38285938del" "" "benign" "" "0000712410" "1" "10" "X" "38145633" "38145647" "del" "0" "00000" "RPGR_000222" "g.38145633_38145647del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+853_867del15" "" "Germline" "" "" "0" "" "" "g.38286380_38286394del" "" "benign" "" "0000712411" "1" "10" "X" "38145732" "38145752" "del" "0" "00000" "RPGR_000035" "g.38145732_38145752del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+788_808del21" "" "Germline" "" "" "0" "" "" "g.38286479_38286499del" "" "benign" "" "0000712412" "1" "10" "X" "38145423" "38145443" "dup" "0" "00000" "RPGR_000034" "g.38145423_38145443dup" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1067_1087dup21" "" "Germline" "" "" "0" "" "" "g.38286170_38286190dup" "" "benign" "" "0000712413" "1" "10" "X" "38145330" "38145350" "dup" "0" "00000" "RPGR_000033" "g.38145330_38145350dup" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1165_1185dup21" "" "Germline" "" "" "0" "" "" "g.38286077_38286097dup" "" "benign" "" "0000712414" "1" "10" "X" "38145810" "38145824" "del" "0" "00000" "RPGR_000036" "g.38145810_38145824del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+694_708del15" "" "Germline" "" "" "0" "" "" "g.38286557_38286571del" "" "benign" "" "0000712415" "1" "10" "X" "38145033" "38145033" "subst" "0.0805419" "00000" "RPGR_000198" "g.38145033G>A" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+1466C/T" "" "Germline" "" "" "0" "" "" "g.38285780G>A" "" "benign" "" "0000712416" "1" "90" "X" "38178081" "38178081" "subst" "0" "00000" "RPGR_000050" "g.38178081C>A" "" "{PMID:Dry 1999:10094550}" "" "IVS5+1G>T" "" "Germline" "" "" "0" "" "" "g.38318828C>A" "" "pathogenic (recessive)" "" "0000712417" "1" "90" "X" "38164035" "38164036" "del" "0" "00000" "RPGR_000189" "g.38164035_38164036del" "" "{PMID:Zito 2003:12920075}" "" "845-846delTG" "" "Germline" "" "" "0" "" "" "g.38304782_38304783del" "" "pathogenic (recessive)" "" "0000712418" "1" "90" "X" "38176562" "38176618" "del" "0" "00000" "RPGR_000194" "g.38176562_38176618del" "" "{PMID:Moore 2006:16055928}" "" "631_IVS6+9del" "" "Germline" "" "" "0" "" "" "g.38317309_38317365del" "" "pathogenic (!)" "" "0000712419" "1" "90" "X" "38160137" "38160137" "subst" "0" "00000" "RPGR_000266" "g.38160137C>T" "" "{PMID:Neidhardt 2007:17405150}" "" "g.26652G>A" "" "Germline" "" "" "0" "" "" "g.38300884C>T" "" "pathogenic (recessive)" "" "0000712420" "1" "90" "X" "38186592" "38186592" "subst" "0" "00000" "RPGR_000314" "g.38186592C>T" "" "{PMID:Zito 1999:10480356}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "g.38327339C>T" "" "pathogenic (recessive)" "" "0000712421" "1" "90" "X" "38186588" "38186588" "subst" "0" "00000" "RPGR_000104" "g.38186588C>T" "" "{PMID:Zito 1999:10480356}" "" "IVS1+5G>A" "" "Germline" "" "" "0" "" "" "g.38327335C>T" "" "pathogenic (recessive)" "" "0000712422" "1" "90" "X" "38169897" "38169898" "del" "0" "00000" "RPGR_000284" "g.38169897_38169898del" "" "{PMID:Zito 1999:10480356}" "" "807-808delGT" "" "Germline" "" "" "0" "" "" "g.38310644_38310645del" "" "pathogenic (recessive)" "" "0000712423" "1" "90" "X" "38158216" "38158217" "dup" "0" "00000" "RPGR_000260" "g.38158216_38158217dup" "" "{PMID:Zito 1999:10480356}" "" "1297ins" "" "Germline" "" "" "0" "" "" "g.38298963_38298964dup" "" "pathogenic (recessive)" "" "0000712424" "1" "90" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Zito 1999:10480356}" "" "1435-1436del" "" "Germline" "" "" "0" "" "" "g.38297321_38297322del" "" "pathogenic (recessive)" "" "0000712425" "1" "10" "X" "38182126" "38182126" "subst" "0" "00000" "RPGR_000306" "g.38182126C>A" "" "{PMID:Zito 1999:10480356}" "" "286G>T" "" "Germline" "" "" "0" "" "" "g.38322873C>A" "" "benign" "" "0000712426" "1" "10" "X" "38158290" "38158290" "subst" "0.109585" "00000" "RPGR_000001" "g.38158290C>T" "" "{PMID:Zito 1999:10480356}" "" "1223G>A" "" "Germline" "" "" "0" "" "" "g.38299037C>T" "" "benign" "" "0000712427" "1" "10" "X" "38156677" "38156677" "subst" "0.102089" "00000" "RPGR_000002" "g.38156677C>T" "" "{PMID:Zito 1999:10480356}" "" "1333G>A" "" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "benign" "" "0000712428" "1" "10" "X" "38147170" "38147170" "subst" "0.102629" "00000" "RPGR_000006" "g.38147170C>T" "" "{PMID:Zito 1999:10480356}" "" "1765G>A" "" "Germline" "" "" "0" "" "" "g.38287917C>T" "" "benign" "" "0000712429" "1" "10" "X" "38132628" "38132628" "subst" "0.19848" "00000" "RPGR_000015" "g.38132628A>G" "" "{PMID:Zito 1999:10480356}" "" "2300+11T>C" "" "Germline" "" "" "0" "" "" "g.38273375A>G" "" "benign" "" "0000712430" "1" "90" "X" "38156552" "38156552" "subst" "0" "00000" "RPGR_000253" "g.38156552G>A" "" "{PMID:Rosenberg 1999:10520237}" "" "Gln467stop" "" "Germline" "" "" "0" "" "" "g.38297299G>A" "" "pathogenic" "" "0000712431" "1" "90" "X" "38186592" "38186592" "subst" "0" "00000" "RPGR_000314" "g.38186592C>T" "" "{PMID:Zito 2000:10737996}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "g.38327339C>T" "" "pathogenic" "" "0000712432" "1" "90" "X" "38176564" "38176564" "subst" "0" "00000" "RPGR_000195" "g.38176564C>T" "" "{PMID:Zito 2000:10737996}" "" "IVS6+5G>A" "" "Germline" "" "" "0" "" "" "g.38317311C>T" "" "pathogenic" "" "0000712433" "1" "90" "X" "38163930" "38163931" "del" "0" "00000" "RPGR_000275" "g.38163930_38163931del" "" "{PMID:Zito 2000:10737996}" "" "950-951delAA" "" "Germline" "" "" "0" "" "" "g.38304677_38304678del" "" "pathogenic" "" "0000712434" "1" "90" "X" "38163918" "38163918" "subst" "0" "00000" "RPGR_000272" "g.38163918A>G" "" "{PMID:Zito 2000:10737996}" "" "963T>C" "" "Germline" "" "" "0" "" "" "g.38304665A>G" "" "pathogenic" "" "0000712435" "1" "90" "X" "38160625" "38169867" "" "0" "00000" "RPGR_000184" "g.(38160625_38169867)del(?)" "" "{PMID:Zito 2000:10737996}" "" "c.(778+1_935-1)del(?)" "" "Germline" "" "" "0" "" "" "g.(38301372_38310614)del(?)" "" "pathogenic" "" "0000712436" "1" "90" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Guevara-Fujita 2001:11180598}" "" "160delA" "" "Germline" "" "" "0" "" "" "g.38323456del" "" "pathogenic" "" "0000712437" "1" "90" "X" "38169916" "38169916" "subst" "0" "00000" "RPGR_000286" "g.38169916T>A" "" "{PMID:Guevara-Fujita 2001:11180598}" "" "789A>T" "" "Germline" "" "" "0" "" "" "g.38310663T>A" "" "pathogenic" "" "0000712438" "1" "90" "X" "38163887" "38163887" "subst" "0" "00000" "RPGR_000271" "g.38163887C>G" "" "{PMID:Guevara-Fujita 2001:11180598}" "" "IVS8+1G>C" "" "Germline" "" "" "0" "" "" "g.38304634C>G" "" "pathogenic (recessive)" "" "0000712439" "1" "90" "X" "38158366" "38158366" "dup" "0" "00000" "RPGR_000265" "g.38158366dup" "" "{PMID:Guevara-Fujita 2001:11180598}" "" "1147insT" "" "Germline" "" "" "0" "" "" "g.38299113dup" "" "pathogenic" "" "0000712440" "1" "90" "X" "38156644" "38156644" "subst" "0" "00000" "RPGR_000255" "g.38156644C>T" "" "{PMID:Guevara-Fujita 2001:11180598}" "" "1366G>A" "" "Germline" "" "" "0" "" "" "g.38297391C>T" "" "pathogenic" "" "0000712441" "1" "90" "X" "38169923" "38169950" "del" "0" "00000" "RPGR_000287" "g.38169923_38169950del" "" "{PMID:Zhao 2001:11559860}" "" "" "" "Germline" "" "" "0" "" "" "g.38310670_38310697del" "" "pathogenic" "" "0000712442" "1" "90" "X" "38158216" "38158217" "del" "0" "00000" "RPGR_000261" "g.38158216_38158217del" "" "{PMID:Koenekoop 2003:14516808}" "" "1244-1245delGA" "" "Germline" "" "" "0" "" "" "g.38298963_38298964del" "" "pathogenic (!)" "" "0000712443" "1" "90" "X" "38182651" "38182651" "subst" "0" "00000" "RPGR_000311" "g.38182651C>T" "" "{PMID:Koenekoop 2003:14516808}" "" "IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.38323398C>T" "" "pathogenic (recessive)" "" "0000712444" "1" "90" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "" "{PMID:Demirci 2004:15364249}" "" "213G>A (G52R)" "" "Germline" "" "" "0" "" "" "g.38323399C>T" "" "pathogenic (recessive)" "" "0000712445" "1" "90" "X" "38156495" "38186700" "delins" "0" "00000" "RPGR_000191" "g.38156495_38186700delinsG" "" "{PMID:Jin 2005:16052169}" "" "del ex1-11;g.ORF15+1675A>G" "" "Germline" "" "" "0" "" "" "g.38297242_38327447delinsG" "" "pathogenic (recessive)" "" "0000712446" "1" "90" "X" "38182162" "38182162" "del" "0" "00000" "RPGR_000310" "g.38182162del" "" "{PMID:Shu 2007:17195164}" "" "194delG" "" "Germline" "" "" "0" "" "" "g.38322909del" "" "pathogenic (recessive)" "" "0000712447" "1" "90" "X" "38178201" "38178201" "subst" "0" "00000" "RPGR_000300" "g.38178201C>T" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38318948C>T" "" "pathogenic (recessive)" "" "0000712448" "1" "90" "X" "38178148" "38178148" "del" "0" "00000" "RPGR_000298" "g.38178148del" "" "{PMID:Shu 2007:17195164}" "" "408delT" "" "Germline" "" "" "0" "" "" "g.38318895del" "" "pathogenic (recessive)" "" "0000712449" "1" "90" "X" "38176694" "38176694" "subst" "0" "00000" "RPGR_000293" "g.38176694C>A" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38317441C>A" "" "pathogenic (recessive)" "" "0000712450" "1" "90" "X" "38169867" "38169867" "subst" "0" "00000" "RPGR_000283" "g.38169867C>G" "" "{PMID:Shu 2007:17195164}" "" "c.778+1G>C (IVS7+1G>C)" "" "Germline" "" "" "0" "" "" "g.38310614C>G" "" "pathogenic (recessive)" "" "0000712451" "1" "90" "X" "38164005" "38164005" "subst" "0" "00000" "RPGR_000279" "g.38164005G>A" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38304752G>A" "" "pathogenic (recessive)" "" "0000712452" "1" "90" "X" "38158319" "38158319" "subst" "0" "00000" "RPGR_000262" "g.38158319C>A" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38299066C>A" "" "pathogenic (recessive)" "" "0000712453" "1" "90" "X" "38156535" "38156535" "subst" "0" "00000" "RPGR_000251" "g.38156535A>T" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38297282A>T" "" "pathogenic (recessive)" "" "0000712454" "1" "90" "X" "38150211" "38150211" "subst" "0" "00000" "RPGR_000168" "g.38150211C>T" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38290958C>T" "" "pathogenic (recessive)" "" "0000712455" "1" "90" "X" "38146487" "38146487" "subst" "0" "00000" "RPGR_000239" "g.38146487C>A" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38287234C>A" "" "pathogenic (recessive)" "" "0000712456" "1" "90" "X" "38146324" "38146324" "subst" "0" "00000" "RPGR_000237" "g.38146324G>C" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38287071G>C" "" "pathogenic (recessive)" "" "0000712457" "1" "90" "X" "38146124" "38146203" "dup" "0" "00000" "RPGR_000236" "g.38146124_38146203dup" "" "{PMID:Shu 2007:17195164}" "" "2049_2218dup80 (g.ORF151296_375dup80)" "" "Germline" "" "" "0" "" "" "g.38286871_38286950dup" "" "pathogenic (recessive)" "" "0000712458" "1" "90" "X" "38145750" "38145750" "del" "0" "00000" "RPGR_000228" "g.38145750del" "" "{PMID:Shu 2007:17195164}" "" "2506delG (g.ORF151753delG)" "" "Germline" "" "" "0" "" "" "g.38286497del" "" "pathogenic (recessive)" "" "0000712459" "1" "90" "X" "38145724" "38145724" "del" "0" "00000" "RPGR_000225" "g.38145724del" "" "{PMID:Shu 2007:17195164}" "" "2529delA (g.ORF151776delA)" "" "Germline" "" "" "0" "" "" "g.38286471del" "" "pathogenic (recessive)" "" "0000712460" "1" "90" "X" "38145716" "38145716" "subst" "0" "00000" "RPGR_000224" "g.38145716C>A" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38286463C>A" "" "pathogenic (recessive)" "" "0000712461" "1" "90" "X" "38145323" "38145323" "subst" "0" "00000" "RPGR_000206" "g.38145323C>A" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38286070C>A" "" "pathogenic (recessive)" "" "0000712462" "1" "90" "X" "38145491" "38145492" "del" "0" "00000" "RPGR_000216" "g.38145491_38145492del" "" "{PMID:Shu 2007:17195164}" "" "2760_2761delAG (g.ORF1511007_1008delAG)" "" "Germline" "" "" "0" "" "" "g.38286238_38286239del" "" "pathogenic (recessive)" "" "0000712463" "1" "90" "X" "38145463" "38145464" "del" "0" "00000" "RPGR_000162" "g.38145463_38145464del" "" "{PMID:Shu 2007:17195164}" "" "2790_2791delGG (g.ORF1511037_1038delGG)" "" "Germline" "" "" "0" "" "" "g.38286210_38286211del" "" "pathogenic (recessive)" "" "0000712464" "1" "90" "X" "38145411" "38145411" "del" "0" "00000" "RPGR_000212" "g.38145411del" "" "{PMID:Shu 2007:17195164}" "" "2845delG (g.ORF1511092delG)" "" "Germline" "" "" "0" "" "" "g.38286158del" "" "pathogenic (recessive)" "" "0000712465" "1" "90" "X" "38145391" "38145391" "dup" "0" "00000" "RPGR_000211" "g.38145391dup" "" "{PMID:Shu 2007:17195164}" "" "2862dupA (g.ORF1511109dupA)" "" "Germline" "" "" "0" "" "" "g.38286138dup" "" "pathogenic (recessive)" "" "0000712466" "1" "90" "X" "38145380" "38145380" "subst" "0" "00000" "RPGR_000210" "g.38145380C>A" "" "{PMID:Shu 2007:17195164}" "" "" "" "Germline" "" "" "0" "" "" "g.38286127C>A" "" "pathogenic (recessive)" "" "0000712467" "1" "90" "X" "38145361" "38145362" "del" "0" "00000" "RPGR_000209" "g.38145361_38145362del" "" "{PMID:Shu 2007:17195164}" "" "2892_2893delGG (g.ORF1511139_1140delGG)" "" "Germline" "" "" "0" "" "" "g.38286108_38286109del" "" "pathogenic (recessive)" "" "0000712468" "1" "90" "X" "38145337" "38145338" "del" "0" "00000" "RPGR_000207" "g.38145337_38145338del" "" "{PMID:Shu 2007:17195164}" "" "2916_2917delGG (g.ORF1511163_1164delGG)" "" "Germline" "" "" "0" "" "" "g.38286084_38286085del" "" "pathogenic (recessive)" "" "0000712469" "1" "90" "X" "38145197" "38145197" "del" "0" "00000" "RPGR_000203" "g.38145197del" "" "{PMID:Shu 2007:17195164}" "" "3058delG (g.ORF1511305delG)" "" "Germline" "" "" "0" "" "" "g.38285944del" "" "pathogenic (recessive)" "" "0000712470" "1" "90" "X" "38158206" "38158206" "subst" "0" "00000" "RPGR_000259" "g.38158206T>A" "" "{PMID:Glaus 2011:21326217}" "" "" "" "Germline" "" "" "0" "" "" "g.38298953T>A" "" "pathogenic (recessive)" "" "0000712471" "1" "90" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "" "{PMID:Bukowy-Bieryłło 2013:22888088}, {PMID:Krawczyński 2004:15170879}" "" "Gly52Arg" "" "Germline" "" "" "0" "" "" "g.38323399C>T" "" "pathogenic (recessive)" "" "0000712472" "1" "90" "X" "38163998" "38163998" "subst" "0" "00000" "RPGR_000278" "g.38163998C>A" "" "{PMID:Bukowy-Bieryłło 2013:22888088}" "" "" "" "Germline" "" "" "0" "" "" "g.38304745C>A" "" "pathogenic (recessive)" "" "0000712473" "1" "90" "X" "38145440" "38145440" "subst" "0" "00000" "RPGR_000213" "g.38145440C>A" "" "{PMID:Park 2013:23443027}" "" "" "" "Germline" "" "" "0" "" "" "g.38286187C>A" "" "pathogenic (recessive)" "" "0000712474" "1" "90" "X" "38182151" "38182151" "subst" "0" "00000" "RPGR_000309" "g.38182151C>T" "" "{PMID:Park 2013:23443027}" "" "" "" "Germline" "" "" "0" "" "" "g.38322898C>T" "" "pathogenic (recessive)" "" "0000712475" "1" "90" "X" "38156644" "38156644" "subst" "0" "00000" "RPGR_000255" "g.38156644C>T" "" "{PMID:Park 2013:23443027}" "" "" "" "Germline" "" "" "0" "" "" "g.38297391C>T" "" "pathogenic (recessive)" "" "0000712476" "1" "90" "X" "38145440" "38145440" "subst" "0" "00000" "RPGR_000213" "g.38145440C>A" "" "{PMID:Park 2013:23443027}" "" "" "" "Germline" "" "" "0" "" "" "g.38286187C>A" "" "pathogenic (recessive)" "" "0000712477" "1" "90" "X" "38186592" "38186592" "subst" "0" "00000" "RPGR_000314" "g.38186592C>T" "" "{PMID:Zahid 2013:23681342}" "" "28+1G>A" "" "Germline" "" "" "0" "" "" "g.38327339C>T" "" "pathogenic" "" "0000712479" "1" "90" "X" "38182105" "38182778" "del" "0" "00000" "RPGR_000181" "g.(38180343_38182105)_(38182778_38186592)del" "" "{PMID:Zahid 2013:23681342}" "" "del ex2-3" "" "Germline" "" "" "0" "" "" "g.(38321090_38322852)_(38323525_38327339)del" "" "pathogenic" "" "0000712480" "1" "90" "X" "38176696" "38176696" "subst" "0" "00000" "RPGR_000294" "g.38176696C>T" "" "{PMID:Zahid 2013:23681342}" "" "492G>A" "" "Germline" "" "" "0" "" "" "g.38317443C>T" "" "pathogenic" "" "0000712481" "1" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Zahid 2013:23681342}" "" "2236_2237delGA" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000712482" "1" "90" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Zahid 2013:23681342}" "" "2257_2260delGGAG" "" "Germline" "" "" "0" "" "" "g.38286743_38286746del" "" "pathogenic" "" "0000712483" "1" "90" "X" "38145992" "38145992" "subst" "0" "00000" "RPGR_000232" "g.38145992C>A" "" "{PMID:Zahid 2013:23681342}" "" "2260G>T" "" "Germline" "" "" "0" "" "" "g.38286739C>A" "" "pathogenic" "" "0000712484" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Zahid 2013:23681342}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000712485" "1" "90" "X" "38145734" "38145738" "del" "0" "00000" "RPGR_000227" "g.38145734_38145738del" "" "{PMID:Zahid 2013:23681342}" "" "2516_2520delAAGGG" "" "Germline" "" "" "0" "" "" "g.38286481_38286485del" "" "pathogenic" "" "0000712486" "1" "90" "X" "38145537" "38145538" "del" "0" "00000" "RPGR_000218" "g.38145537_38145538del" "" "{PMID:Zahid 2013:23681342}" "" "2714_2715delAA" "" "Germline" "" "" "0" "" "" "g.38286284_38286285del" "" "pathogenic" "" "0000712487" "1" "90" "X" "38145491" "38145491" "del" "0" "00000" "RPGR_000215" "g.38145491del" "" "{PMID:Zahid 2013:23681342}" "" "2764delG" "" "Germline" "" "" "0" "" "" "g.38286238del" "" "pathogenic" "" "0000712488" "1" "90" "X" "38145323" "38145323" "subst" "0" "00000" "RPGR_000206" "g.38145323C>A" "" "{PMID:Zahid 2013:23681342}" "" "2929G>T" "" "Germline" "" "" "0" "" "" "g.38286070C>A" "" "pathogenic" "" "0000712489" "1" "90" "X" "38145214" "38145215" "del" "0" "00000" "RPGR_000059" "g.38145214_38145215del" "" "{PMID:Zahid 2013:23681342}" "" "3039_3040delGG" "" "Germline" "" "" "0" "" "" "g.38285961_38285962del" "" "pathogenic" "" "0000712490" "1" "90" "X" "38145158" "38145159" "del" "0" "00000" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Zahid 2013:23681342}" "" "3096_3097delGG" "" "Germline" "" "" "0" "" "" "g.38285905_38285906del" "" "pathogenic" "" "0000712491" "1" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Zahid 2013:23681342}" "" "2236_2237delGA" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000712492" "1" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Zahid 2013:23681342}" "" "2236_2237delGA" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000712493" "1" "90" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Zahid 2013:23681342}" "" "2257_2260delGGAG" "" "Germline" "" "" "0" "" "" "g.38286743_38286746del" "" "pathogenic" "" "0000712494" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Zahid 2013:23681342}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000712495" "1" "90" "X" "38145734" "38145738" "del" "0" "00000" "RPGR_000227" "g.38145734_38145738del" "" "{PMID:Zahid 2013:23681342}" "" "2516_2520delAAGGG" "" "Germline" "" "" "0" "" "" "g.38286481_38286485del" "" "pathogenic" "" "0000712496" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Zahid 2013:23681342}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000712497" "1" "90" "X" "38145734" "38145738" "del" "0" "00000" "RPGR_000227" "g.38145734_38145738del" "" "{PMID:Zahid 2013:23681342}" "" "2516_2520delAAGGG" "" "Germline" "" "" "0" "" "" "g.38286481_38286485del" "" "pathogenic" "" "0000712498" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Zahid 2013:23681342}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000712499" "1" "90" "X" "38145734" "38145738" "del" "0" "00000" "RPGR_000227" "g.38145734_38145738del" "" "{PMID:Zahid 2013:23681342}" "" "2516_2520delAAGGG" "" "Germline" "" "" "0" "" "" "g.38286481_38286485del" "" "pathogenic" "" "0000712500" "1" "90" "X" "38145537" "38145538" "del" "0" "00000" "RPGR_000218" "g.38145537_38145538del" "" "{PMID:Zahid 2013:23681342}" "" "2714_2715delAA" "" "Germline" "" "" "0" "" "" "g.38286284_38286285del" "" "pathogenic" "" "0000712501" "1" "90" "X" "38145158" "38145159" "del" "0" "00000" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Zahid 2013:23681342}" "" "3096_3097delGG" "" "Germline" "" "" "0" "" "" "g.38285905_38285906del" "" "pathogenic" "" "0000712502" "1" "90" "X" "38160499" "38160501" "del" "0" "00000" "RPGR_000267" "g.38160499_38160501del" "" "{PMID:Sengillo 2018:30021045}" "" "1059_1059+2delGGT" "" "Germline" "" "" "0" "" "" "g.38301246_38301248del" "" "pathogenic" "" "0000712503" "1" "90" "X" "38176719" "38176719" "subst" "0" "00000" "RPGR_000296" "g.38176719C>T" "" "{PMID:Wang 2018:30313097}" "" "" "" "Germline" "" "" "0" "" "" "g.38317466C>T" "" "pathogenic (recessive)" "" "0000712504" "1" "90" "X" "38176607" "38176607" "subst" "0" "00000" "RPGR_000292" "g.38176607C>T" "" "{PMID:Nanda 2018:30567410}" "" "" "" "Germline" "" "" "0" "" "" "g.38317354C>T" "" "pathogenic (!)" "" "0000712505" "1" "90" "X" "38164048" "38164048" "subst" "0" "00000" "RPGR_000280" "g.38164048A>C" "" "{PMID:Nanda 2018:30567410}" "" "" "" "Germline" "" "" "0" "" "" "g.38304795A>C" "" "pathogenic (!)" "" "0000712506" "1" "90" "X" "38163918" "38163918" "subst" "0" "00000" "RPGR_000273" "g.38163918A>C" "" "{PMID:Nanda 2018:30567410}" "" "" "" "Germline" "" "" "0" "" "" "g.38304665A>C" "" "pathogenic (!)" "" "0000712507" "1" "90" "X" "38160514" "38160514" "del" "0" "00000" "RPGR_000268" "g.38160514del" "" "{PMID:Nanda 2018:30567410}" "" "1047delT" "" "Germline" "" "" "0" "" "" "g.38301261del" "" "pathogenic (!)" "" "0000712508" "1" "90" "X" "38160514" "38160514" "del" "0" "00000" "RPGR_000268" "g.38160514del" "" "{PMID:Nanda 2018:30567410}" "" "1047delT" "" "Germline" "" "" "0" "" "" "g.38301261del" "" "pathogenic (!)" "" "0000712509" "1" "90" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Nanda 2018:30567410}" "" "1377_1378" "" "Germline" "" "" "0" "" "" "g.38297321_38297322del" "" "pathogenic (!)" "" "0000712510" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Nanda 2018:30567410}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic (!)" "" "0000712511" "1" "90" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Nanda 2018:30567410}" "" "3092delA" "" "Germline" "" "" "0" "" "" "g.38285907del" "" "pathogenic (!)" "" "0000712512" "1" "90" "X" "38145256" "38145260" "del" "0" "00000" "RPGR_000205" "g.38145256_38145260del" "" "{PMID:Nanda 2018:30567410}" "" "2993_2997delAAGGG" "" "Germline" "" "" "0" "" "" "g.38286003_38286007del" "" "pathogenic (!)" "" "0000712513" "1" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Nanda 2018:30567410}" "" "2426_2427delAG" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic (!)" "" "0000712514" "1" "90" "X" "38145625" "38145626" "del" "0" "00000" "RPGR_000220" "g.38145625_38145626del" "" "{PMID:Nanda 2018:30567410}" "" "2628_2629delGG" "" "Germline" "" "" "0" "" "" "g.38286372_38286373del" "" "pathogenic (!)" "" "0000712515" "1" "90" "X" "38145076" "38145077" "del" "0" "00000" "RPGR_000199" "g.38145076_38145077del" "" "{PMID:Nanda 2018:30567410}" "" "3178_3179delGA" "" "Germline" "" "" "0" "" "" "g.38285823_38285824del" "" "pathogenic (!)" "" "0000712516" "1" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Nanda 2018:30567410}" "" "2426_2427delAG" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic (!)" "" "0000712517" "1" "90" "X" "38145602" "38145602" "subst" "0" "00000" "RPGR_000188" "g.38145602C>A" "" "{PMID:Nanda 2018:30567410}" "" "" "" "Germline" "" "" "0" "" "" "g.38286349C>A" "" "pathogenic (!)" "" "0000712518" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Nanda 2018:30567410}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic (!)" "" "0000712519" "1" "90" "X" "38182140" "38182140" "del" "0" "00000" "RPGR_000307" "g.38182140del" "" "{PMID:Nanda 2018:30567410}" "" "215delA" "" "Germline" "" "" "0" "" "" "g.38322887del" "" "pathogenic (!)" "" "0000712520" "1" "90" "X" "38178148" "38178148" "del" "0" "00000" "RPGR_000298" "g.38178148del" "" "{PMID:Nanda 2018:30567410}" "" "408delT" "" "Germline" "" "" "0" "" "" "g.38318895del" "" "pathogenic (!)" "" "0000712521" "1" "90" "X" "38176607" "38176607" "subst" "0" "00000" "RPGR_000292" "g.38176607C>T" "" "{PMID:Nanda 2018:30567410}" "" "" "" "Germline" "" "" "0" "" "" "g.38317354C>T" "" "pathogenic (!)" "" "0000712522" "1" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Nanda 2018:30567410}" "" "2426_2427delAG" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic (!)" "" "0000712523" "1" "90" "X" "38145256" "38145260" "del" "0" "00000" "RPGR_000205" "g.38145256_38145260del" "" "{PMID:Nanda 2018:30567410}" "" "2993_2997delAAGGG" "" "Germline" "" "" "0" "" "" "g.38286003_38286007del" "" "pathogenic (!)" "" "0000712524" "1" "90" "X" "38156572" "38156572" "subst" "0" "00000" "RPGR_000254" "g.38156572A>T" "" "{PMID:Nanda 2018:30567410}" "" "" "" "Germline" "" "" "0" "" "" "g.38297319A>T" "" "pathogenic (!)" "" "0000712525" "1" "90" "X" "38150216" "38150216" "del" "0" "00000" "RPGR_000245" "g.38150216del" "" "{PMID:Nanda 2018:30567410}" "" "1571delA" "" "Germline" "" "" "0" "" "" "g.38290963del" "" "pathogenic (!)" "" "0000712526" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000187" "g.38145848_38145849del" "" "{PMID:Zhang 2018:30622176}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic (!)" "" "0000712527" "1" "90" "X" "38176694" "38176694" "subst" "0" "00000" "RPGR_000174" "g.38176694C>T" "" "{PMID:Huang 2019:30887160}" "" "" "" "Germline" "" "" "0" "" "" "g.38317441C>T" "" "pathogenic (recessive)" "" "0000712528" "1" "90" "X" "38170002" "38170002" "subst" "0" "00000" "RPGR_000291" "g.38170002C>T" "" "{PMID:Fu 2019:31652454}" "" "G644A" "" "Germline" "" "" "0" "" "" "g.38310749C>T" "" "pathogenic (!)" "" "0000712529" "1" "90" "X" "38160565" "38160565" "subst" "0" "00000" "RPGR_000269" "g.38160565C>A" "" "{PMID:Liu 2000:10862103}" "" "1053G>T" "" "Germline" "" "" "0" "" "" "g.38301312C>A" "" "pathogenic (recessive)" "" "0000712530" "1" "90" "X" "38150676" "38150676" "del" "0" "00000" "RPGR_000250" "g.38150676del" "" "{PMID:Liu 2000:10862103}" "" "1536delC" "" "Germline" "" "" "0" "" "" "g.38291423del" "" "pathogenic (recessive)" "" "0000712531" "1" "90" "X" "38182141" "38182141" "subst" "0" "00000" "RPGR_000308" "g.38182141G>C" "" "{PMID:Tocino 2019:31033374}" "" "" "" "Germline" "" "" "0" "" "" "g.38322888G>C" "" "pathogenic (recessive)" "" "0000712532" "1" "90" "X" "38147276" "38147276" "subst" "0" "00000" "RPGR_000240" "g.38147276C>A" "" "{PMID:Parmeggiani 2017:27768226}" "" "" "" "Germline" "" "" "0" "" "" "g.38288023C>A" "" "pathogenic (recessive)" "" "0000712533" "1" "90" "X" "38158349" "38158349" "subst" "3.38101E-5" "00000" "RPGR_000264" "g.38158349G>A" "" "{PMID:Parmeggiani 2017:27768226}" "" "" "" "Germline" "" "" "0" "" "" "g.38299096G>A" "" "pathogenic (recessive)" "" "0000712534" "1" "90" "X" "38180313" "38180316" "dup" "0" "00000" "RPGR_000305" "g.38180313_38180316dup" "" "Chung ARVO2003" "" "333_336dup4" "" "Germline" "" "" "0" "" "" "g.38321060_38321063dup" "" "pathogenic (recessive)" "" "0000712535" "1" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "Chung ARVO2003" "" "ORF15+483_484delGA" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic (recessive)" "" "0000712536" "1" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "Chung ARVO2003" "" "ORF15+483_484delGA" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic (recessive)" "" "0000712537" "1" "90" "X" "38169865" "38169865" "subst" "0" "00000" "RPGR_000282" "g.38169865T>A" "" "Gimenez 2008 HumGenet 124:303" "" "IVS7+3A>T" "" "Germline" "" "" "0" "" "" "g.38310612T>A" "" "pathogenic (recessive)" "" "0000712547" "1" "30" "X" "38164037" "38164037" "subst" "0.00118194" "00006" "RPGR_000047" "g.38164037G>C" "" "{PMID:Buraczynska 1997:9399904}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000712548" "1" "30" "X" "38145810" "38145824" "del" "0" "00006" "RPGR_000036" "g.38145810_38145824del" "" "{PMID:Vervoort 2000:10932196}" "" "g.ORF15+694_708del15" "" "Germline" "" "" "0" "" "" "g.38286557_38286571del" "" "likely benign" "" "0000712549" "1" "10" "X" "38164037" "38164037" "subst" "0" "00006" "RPGR_000190" "g.38164037G>A" "" "{PMID:Zito 2003:12920075}" "" "844C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000712550" "1" "30" "X" "38145004" "38145004" "subst" "0" "00006" "RPGR_000192" "g.38145004T>C" "" "{PMID:Jin 2005:16052169}" "" "del ex1-11;g.ORF15+1675A>G" "" "Germline" "" "" "0" "" "" "g.38285751T>C" "" "likely benign" "" "0000712676" "21" "90" "X" "38176564" "38176564" "subst" "0" "00006" "RPGR_000195" "g.38176564C>T" "" "{PMID:Zito 2000:10980543}" "" "IVS6+5G>A" "" "Germline" "yes" "" "0" "" "" "g.38317311C>T" "" "pathogenic (recessive)" "" "0000712678" "21" "10" "X" "38156677" "38156677" "subst" "0.102089" "00006" "RPGR_000002" "g.38156677C>T" "" "{PMID:Zito 2000:10980543}" "" "1333G>A" "" "Germline" "yes" "" "0" "" "" "g.38297424C>T" "" "benign" "" "0000712679" "21" "10" "X" "38150201" "38150201" "subst" "0.0991745" "00006" "RPGR_000244" "g.38150201T>C" "" "{PMID:Zito 2000:10980543}" "" "IVS13+11A>G" "" "Germline" "yes" "" "0" "" "" "g.38290948T>C" "" "benign" "" "0000712680" "21" "10" "X" "38147291" "38147293" "del" "0" "00006" "RPGR_000008" "g.38147291_38147293del" "" "{PMID:Zito 2000:10980543}" "" "1635-1637del3" "" "Germline" "yes" "" "0" "" "" "g.38288038_38288040del" "" "benign" "" "0000712681" "21" "10" "X" "38147269" "38147269" "subst" "0.019054" "00006" "RPGR_000005" "g.38147269G>A" "" "{PMID:Zito 2000:10980543}" "" "1657C>T" "" "Germline" "yes" "" "0" "" "" "g.38288016G>A" "" "benign" "" "0000712682" "21" "10" "X" "38147170" "38147170" "subst" "0.102629" "00006" "RPGR_000006" "g.38147170C>T" "" "{PMID:Zito 2000:10980543}" "" "1756G>A" "" "Germline" "yes" "" "0" "" "" "g.38287917C>T" "" "benign" "" "0000712683" "21" "10" "X" "38156677" "38156677" "subst" "0.102089" "00006" "RPGR_000002" "g.38156677C>T" "15/344 control chromosomes" "{PMID:Zito 2000:10980543}" "" "1333G>A" "" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "benign" "" "0000712684" "21" "10" "X" "38150201" "38150201" "subst" "0.0991745" "00006" "RPGR_000244" "g.38150201T>C" "15/344 control chromosomes" "{PMID:Zito 2000:10980543}" "" "IVS13+11A>G" "" "Germline" "" "" "0" "" "" "g.38290948T>C" "" "benign" "" "0000712685" "21" "10" "X" "38147291" "38147293" "del" "0" "00006" "RPGR_000008" "g.38147291_38147293del" "15/344 control chromosomes" "{PMID:Zito 2000:10980543}" "" "1635-1637del3" "" "Germline" "" "" "0" "" "" "g.38288038_38288040del" "" "benign" "" "0000712686" "21" "10" "X" "38147269" "38147269" "subst" "0.019054" "00006" "RPGR_000005" "g.38147269G>A" "15/344 control chromosomes" "{PMID:Zito 2000:10980543}" "" "1657C>T" "" "Germline" "" "" "0" "" "" "g.38288016G>A" "" "benign" "" "0000712687" "21" "10" "X" "38147170" "38147170" "subst" "0.102629" "00006" "RPGR_000006" "g.38147170C>T" "15/344 control chromosomes" "{PMID:Zito 2000:10980543}" "" "1756G>A" "" "Germline" "" "" "0" "" "" "g.38287917C>T" "" "benign" "" "0000712688" "11" "90" "X" "38176564" "38176564" "subst" "0" "00006" "RPGR_000195" "g.38176564C>T" "" "{PMID:Zito 2000:10980543}" "" "IVS6+5G>A" "" "Germline" "yes" "" "0" "" "" "g.38317311C>T" "" "pathogenic" "" "0000712689" "3" "10" "X" "38156677" "38156677" "subst" "0.102089" "00006" "RPGR_000002" "g.38156677C>T" "" "{PMID:Zito 2000:10980543}" "" "1333G>A" "" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "benign" "" "0000712690" "3" "10" "X" "38150201" "38150201" "subst" "0.0991745" "00006" "RPGR_000244" "g.38150201T>C" "" "{PMID:Zito 2000:10980543}" "" "IVS13+11A>G" "" "Germline" "" "" "0" "" "" "g.38290948T>C" "" "benign" "" "0000712691" "3" "10" "X" "38147291" "38147293" "del" "0" "00006" "RPGR_000008" "g.38147291_38147293del" "" "{PMID:Zito 2000:10980543}" "" "1635-1637del3" "" "Germline" "" "" "0" "" "" "g.38288038_38288040del" "" "benign" "" "0000712692" "3" "10" "X" "38147269" "38147269" "subst" "0.019054" "00006" "RPGR_000005" "g.38147269G>A" "" "{PMID:Zito 2000:10980543}" "" "1657C>T" "" "Germline" "" "" "0" "" "" "g.38288016G>A" "" "benign" "" "0000712693" "3" "10" "X" "38147170" "38147170" "subst" "0.102629" "00006" "RPGR_000006" "g.38147170C>T" "" "{PMID:Zito 2000:10980543}" "" "1756G>A" "" "Germline" "" "" "0" "" "" "g.38287917C>T" "" "benign" "" "0000712694" "11" "90" "X" "38176564" "38176564" "subst" "0" "00006" "RPGR_000195" "g.38176564C>T" "" "{PMID:Zito 2000:10980543}" "" "IVS6+5G>A" "" "Germline" "yes" "" "0" "" "" "g.38317311C>T" "" "pathogenic" "" "0000712695" "11" "10" "X" "38156677" "38156677" "subst" "0.102089" "00006" "RPGR_000002" "g.38156677C>T" "" "{PMID:Zito 2000:10980543}" "" "1333G>A" "" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "benign" "" "0000712696" "11" "10" "X" "38150201" "38150201" "subst" "0.0991745" "00006" "RPGR_000244" "g.38150201T>C" "" "{PMID:Zito 2000:10980543}" "" "IVS13+11A>G" "" "Germline" "" "" "0" "" "" "g.38290948T>C" "" "benign" "" "0000712697" "11" "10" "X" "38147291" "38147293" "del" "0" "00006" "RPGR_000008" "g.38147291_38147293del" "" "{PMID:Zito 2000:10980543}" "" "1635-1637del3" "" "Germline" "" "" "0" "" "" "g.38288038_38288040del" "" "benign" "" "0000712698" "11" "10" "X" "38147269" "38147269" "subst" "0.019054" "00006" "RPGR_000005" "g.38147269G>A" "" "{PMID:Zito 2000:10980543}" "" "1657C>T" "" "Germline" "" "" "0" "" "" "g.38288016G>A" "" "benign" "" "0000712699" "11" "10" "X" "38147170" "38147170" "subst" "0.102629" "00006" "RPGR_000006" "g.38147170C>T" "" "{PMID:Zito 2000:10980543}" "" "1756G>A" "" "Germline" "" "" "0" "" "" "g.38287917C>T" "" "benign" "" "0000712700" "20" "10" "X" "38132628" "38132628" "subst" "0.19848" "00006" "RPGR_000015" "g.38132628A>G" "" "{PMID:Zito 2000:10980543}" "" "IVS18+11T>C" "" "Germline" "" "" "0" "" "" "g.38273375A>G" "" "benign" "" "0000713247" "20" "90" "X" "38182680" "38182680" "subst" "0" "00000" "RPGR_000455" "g.38182680A>C" "" "{PMID:Carss 2017:28041643}" "" "X:38182680A>C ENST00000378505.2:c.126T>G (Cys42Trp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713261" "20" "90" "X" "38145928" "38145929" "del" "0" "00000" "RPGR_000380" "g.38145928_38145929del" "" "{PMID:Carss 2017:28041643}" "" "X:38145927CCT>C ENST00000378505.2:c.2323_2324delAG (Arg775GlufsTer59)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713265" "20" "90" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Carss 2017:28041643}" "" "X:38146014TTC>T ENST00000378505.2:c.2236_2237delGA (Glu746ArgfsTer23)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713269" "20" "90" "X" "38163908" "38163909" "ins" "0" "00000" "RPGR_000428" "g.38163908_38163909insT" "" "{PMID:Carss 2017:28041643}" "" "X:38163907A>AT ENST00000378505.2:c.914dupA (Asn305LysfsTer41)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713286" "20" "90" "X" "38146001" "38146002" "del" "0" "00000" "RPGR_000383" "g.38146001_38146002del" "" "{PMID:Carss 2017:28041643}" "" "X:38146000TTC>T ENST00000378505.2:c.2250_2251delGA (Lys751GlyfsTer18)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713315" "20" "90" "X" "38170013" "38170013" "del" "0" "00000" "RPGR_000438" "g.38170013del" "" "{PMID:Carss 2017:28041643}" "" "X:38170012AT>A ENST00000378505.2:c.633delA (Tyr212MetfsTer11)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713439" "20" "90" "X" "38144799" "38144799" "subst" "0" "00000" "RPGR_000317" "g.38144799C>A" "" "{PMID:Carss 2017:28041643}" "" "X:38144799C>A ENST00000378505.2:c.3453G>T (Leu1151Phe)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713449" "20" "90" "X" "38164046" "38164046" "subst" "0" "00000" "RPGR_000433" "g.38164046G>T" "" "{PMID:Carss 2017:28041643}" "" "X:38164046G>T ENST00000378505.2:c.779-3C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713503" "0" "90" "X" "38146355" "38146358" "del" "0" "00000" "RPGR_000402" "g.38146355_38146358del" "" "{PMID:Carss 2017:28041643}" "" "X:38146354TTGTC>T ENST00000378505.2:c.1894_1897delGACA (Asp632LysfsTer4)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713575" "20" "90" "X" "38156558" "38156558" "del" "0" "00000" "RPGR_000414" "g.38156558del" "" "{PMID:Carss 2017:28041643}" "" "X:38156557AG>A ENST00000378505.2:c.1393delC (Leu465SerfsTer11)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713584" "20" "90" "X" "38158217" "38158217" "subst" "0" "00000" "RPGR_000419" "g.38158217T>A" "" "{PMID:Carss 2017:28041643}" "" "X:38158217T>A ENST00000378505.2:c.1237A>T (Arg413Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713611" "20" "90" "X" "38156578" "38156579" "del" "0" "00000" "RPGR_000415" "g.38156578_38156579del" "" "{PMID:Carss 2017:28041643}" "" "X:38156577ACT>A ENST00000378505.2:c.1372_1373delAG (Ser458CysfsTer4)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713651" "20" "90" "X" "38150723" "38150723" "subst" "0" "00000" "RPGR_000413" "g.38150723C>A" "" "{PMID:Carss 2017:28041643}" "" "X:38150723C>A ENST00000378505.2:c.1429G>T (Glu477Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713926" "1" "90" "X" "38145226" "38145227" "del" "0" "00000" "RPGR_000323" "g.38145226_38145227del" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38285973_38285974del" "" "pathogenic (dominant)" "" "0000713927" "1" "90" "X" "38145780" "38145781" "del" "0" "00000" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38286527_38286528del" "" "pathogenic (dominant)" "" "0000713928" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic (dominant)" "" "0000713929" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic (dominant)" "" "0000713930" "1" "90" "X" "38146342" "38146342" "subst" "0" "00000" "RPGR_000401" "g.38146342C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38287089C>T" "" "pathogenic (dominant)" "" "0000713931" "1" "90" "X" "38147181" "38147182" "del" "0" "00000" "RPGR_000407" "g.38147181_38147182del" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38287928_38287929del" "" "pathogenic (dominant)" "" "0000713932" "1" "90" "X" "38147237" "38147237" "subst" "1.12189E-5" "00000" "RPGR_000408" "g.38147237T>C" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38287984T>C" "" "pathogenic (dominant)" "" "0000713933" "1" "90" "X" "38178120" "38178120" "subst" "0" "00000" "RPGR_000445" "g.38178120T>C" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38318867T>C" "" "pathogenic (dominant)" "" "0000713934" "1" "90" "X" "38178199" "38178199" "subst" "0" "00000" "RPGR_000448" "g.38178199G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38318946G>A" "" "pathogenic (dominant)" "" "0000713935" "1" "90" "X" "38182684" "38182684" "subst" "0" "00000" "RPGR_000456" "g.38182684G>C" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.38323431G>C" "" "pathogenic (dominant)" "" "0000714056" "20" "70" "X" "38182175" "38182175" "subst" "0" "00000" "RPGR_000452" "g.38182175C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.38322922C>T" "" "likely pathogenic" "" "0000714057" "20" "70" "X" "38158287" "38158287" "del" "0" "00000" "RPGR_000421" "g.38158287del" "" "{PMID:Taylor 2017:28341476}" "" "1170delT" "" "Germline" "" "" "0" "" "" "g.38299034del" "" "likely pathogenic" "" "0000714153" "20" "90" "X" "38145868" "38145868" "del" "0" "00000" "RPGR_000063" "g.38145868del" "" "{PMID:Aguirre 2002:12387791}" "" "g.ORF15+631delA (p.ORF15+E210fs)" "" "Germline" "" "" "0" "" "" "g.38286615del" "" "pathogenic" "" "0000714154" "20" "90" "X" "38158208" "38164044" "del" "0" "00000" "RPGR_000182" "g.(38156706_38158208)_(38164044_38169867)del" "" "{PMID:Andreasson 1997:9222238}, {PMID:Andreasson 2003:14566651}" "" "del ex8-10" "" "Germline" "" "" "0" "" "" "g.(38297453_38298955)_(38304791_38310614)del" "" "pathogenic" "" "0000714155" "20" "90" "X" "38158206" "38158206" "subst" "0" "00000" "RPGR_000258" "g.38158206T>C" "" "{PMID:Andreasson 1997:9222238}, {PMID:Andreasson 2003:14566651}" "" "IVS10+3A>G" "" "Germline" "" "" "0" "" "" "g.38298953T>C" "" "pathogenic" "" "0000714156" "20" "90" "X" "38147302" "38147302" "subst" "0" "00000" "RPGR_000243" "g.38147302T>C" "" "{PMID:Andreasson 1997:9222238}, {PMID:Andreasson 2003:14566651}" "" "IVS13-8A>G" "" "Germline" "" "" "0" "" "" "g.38288049T>C" "" "pathogenic" "" "0000714157" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Andreasson 2003:14566651}" "" "g.ORF15+652_653delAG (p.ORF15E217fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714158" "20" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Andreasson 2003:14566651}" "" "g.ORF15+673_674delAG (p.ORF15+E224fs)" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic" "" "0000714159" "20" "90" "X" "38169863" "38169863" "subst" "5.60994E-6" "00000" "RPGR_000281" "g.38169863C>T" "" "{PMID:Andreasson 2003:14566651}" "" "IVS7+5G>A" "" "Germline" "" "" "0" "" "" "g.38310610C>T" "" "pathogenic" "" "0000714160" "20" "90" "X" "38145335" "38145335" "subst" "0" "00000" "RPGR_000332" "g.38145335C>A" "" "{PMID:Ayyagari 2002:12160730}" "" "g.ORF15+1164G>T (p.ORF15+E388X)" "" "Germline" "" "" "0" "" "" "g.38286082C>A" "" "pathogenic" "" "0000714161" "20" "90" "X" "38158239" "38158240" "del" "0" "00000" "RPGR_000420" "g.38158239_38158240del" "" "{PMID:Bader 2003:12657579}" "" "1275_1276delCT" "" "Germline" "" "" "0" "" "" "g.38298986_38298987del" "" "pathogenic" "" "0000714162" "20" "90" "X" "38146382" "38146383" "del" "0" "00000" "RPGR_000403" "g.38146382_38146383del" "" "{PMID:Bader 2003:12657579}" "" "1869_1870delAG" "" "Germline" "" "" "0" "" "" "g.38287129_38287130del" "" "pathogenic" "" "0000714163" "20" "90" "X" "38146245" "38146245" "subst" "0" "00000" "RPGR_000396" "g.38146245C>T" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+254G>A (p.ORF15+W84X)" "" "Germline" "" "" "0" "" "" "g.38286992C>T" "" "pathogenic" "" "0000714164" "20" "90" "X" "38146098" "38146098" "dup" "0" "00000" "RPGR_000392" "g.38146098dup" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+402_403insC (p.ORF15+H134fs)" "" "Germline" "" "" "0" "" "" "g.38286845dup" "" "pathogenic" "" "0000714165" "20" "90" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+414delA (p.ORF15+E136fs)" "" "Germline" "" "" "0" "" "" "g.38286834del" "" "pathogenic" "" "0000714166" "20" "10" "X" "38146029" "38146029" "subst" "0" "00000" "RPGR_000385" "g.38146029C>T" "5/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+470G>A (p.ORF15+E156E)" "" "Germline" "" "" "0" "" "" "g.38286776C>T" "" "benign" "" "0000714167" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+483_484delGA (p.ORF15+E161fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714168" "21" "90" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+504_507delGGAG (p.ORF15+G168fs)" "" "Germline" "" "" "0" "" "" "g.38286743_38286746del" "" "pathogenic" "" "0000714169" "21" "90" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+504_507delGGAG (p.ORF15+G168fs)" "" "Germline" "" "" "0" "" "" "g.38286743_38286746del" "" "pathogenic" "" "0000714170" "20" "90" "X" "38145913" "38145914" "del" "0" "00000" "RPGR_000379" "g.38145913_38145914del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+587_588delAG (p.ORF15+R195fs)" "" "Germline" "" "" "0" "" "" "g.38286660_38286661del" "" "pathogenic" "" "0000714171" "20" "10" "X" "38145911" "38145911" "subst" "0.121374" "00000" "RPGR_000080" "g.38145911C>T" "13/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+588G>A ( p.ORF15+A196T)" "" "Germline" "" "" "0" "" "" "g.38286658C>T" "" "benign" "" "0000714172" "20" "90" "X" "38145855" "38145855" "del" "0" "00000" "RPGR_000376" "g.38145855del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+645delG (p.ORF15+E215fs)" "" "Germline" "" "" "0" "" "" "g.38286602del" "" "pathogenic" "" "0000714173" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+652_653delAG (p.ORF15E217fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714174" "20" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+689_692delAGAG (p.ORF15+V229fs)" "" "Germline" "" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "" "0000714175" "20" "90" "X" "38145780" "38145781" "del" "0" "00000" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+723_724delAG (p.ORF15+R241fs)" "" "Germline" "" "" "0" "" "" "g.38286527_38286528del" "" "pathogenic" "" "0000714176" "20" "90" "X" "38145736" "38145757" "del" "0" "00000" "RPGR_000363" "g.38145736_38145757del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+742_763del22 (p.ORF15+E247fs)" "" "Germline" "" "" "0" "" "" "g.38286483_38286504del" "" "pathogenic" "" "0000714177" "20" "90" "X" "38145751" "38145751" "del" "0" "00000" "RPGR_000367" "g.38145751del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+748delA (p.ORF15+E249fs)" "" "Germline" "" "" "0" "" "" "g.38286498del" "" "pathogenic" "" "0000714178" "21" "10" "X" "38145732" "38145752" "del" "0" "00000" "RPGR_000035" "g.38145732_38145752del" "3/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+788_808del21 (p.ORF15+E263-G269del)" "" "Germline" "" "" "0" "" "" "g.38286479_38286499del" "" "benign" "" "0000714179" "20" "10" "X" "38145633" "38145647" "del" "0" "00000" "RPGR_000222" "g.38145633_38145647del" "2/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+853_867del15 (p.ORF15+E284-E288del)" "" "Germline" "" "" "0" "" "" "g.38286380_38286394del" "" "benign" "" "0000714180" "20" "90" "X" "38145697" "38145698" "ins" "0" "00000" "RPGR_000360" "g.38145697_38145698insG" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+801_802insG (p.ORF15+E267fs)" "" "Germline" "" "" "0" "" "" "g.38286444_38286445insG" "" "pathogenic" "" "0000714181" "20" "90" "X" "38145652" "38145653" "del" "0" "00000" "RPGR_000355" "g.38145652_38145653del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+848_849delGG (p.ORF15+G282fs)" "" "Germline" "" "" "0" "" "" "g.38286399_38286400del" "" "pathogenic" "" "0000714182" "20" "10" "X" "38145585" "38145587" "del" "0" "00000" "RPGR_000219" "g.38145585_38145587del" "14/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+914_916delGGA (p.ORF15+E305del)" "" "Germline" "" "" "0" "" "" "g.38286332_38286334del" "" "benign" "" "0000714183" "20" "10" "X" "38145537" "38145611" "dup" "0" "00000" "RPGR_000345" "g.38145537_38145611dup" "1/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+917_991dup75 ( p.ORF15+G306ins25aa)" "" "Germline" "" "" "0" "" "" "g.38286284_38286358dup" "" "benign" "" "0000714184" "20" "90" "X" "38145470" "38145470" "subst" "0" "00000" "RPGR_000341" "g.38145470C>A" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1029G>T (p.ORF15+G343X)" "" "Germline" "" "" "0" "" "" "g.38286217C>A" "" "pathogenic" "" "0000714185" "20" "10" "X" "38145368" "38145368" "subst" "0" "00000" "RPGR_000334" "g.38145368C>T" "1/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1131G>A (p.ORF15+G377R)" "" "Germline" "" "" "0" "" "" "g.38286115C>T" "" "benign" "" "0000714186" "20" "90" "X" "38145244" "38145245" "del" "0" "00000" "RPGR_000325" "g.38145244_38145245del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1254_1255delGG (p.ORF15+G418fs)" "" "Germline" "" "" "0" "" "" "g.38285991_38285992del" "" "pathogenic" "" "0000714187" "20" "10" "X" "38145190" "38145201" "del" "0" "00000" "RPGR_000202" "g.38145190_38145201del" "11/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1307_1318del12 (p.ORF15+436-439del)" "" "Germline" "" "" "0" "" "" "g.38285937_38285948del" "" "benign" "" "0000714188" "20" "10" "X" "38145180" "38145191" "del" "0" "00000" "RPGR_000201" "g.38145180_38145191del" "1/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1308_1319del12 (p.ORF15+436-439del)" "" "Germline" "" "" "0" "" "" "g.38285927_38285938del" "" "benign" "" "0000714189" "20" "10" "X" "38145180" "38145191" "del" "0" "00000" "RPGR_000201" "g.38145180_38145191del" "1/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1321_1332del12 (p.ORF15+440-443del)" "" "Germline" "" "" "0" "" "" "g.38285927_38285938del" "" "benign" "" "0000714190" "20" "90" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1339delA (p.ORF15+E446fs)" "" "Germline" "" "" "0" "" "" "g.38285907del" "" "pathogenic" "" "0000714191" "20" "10" "X" "38145021" "38145021" "subst" "0.01946" "00000" "RPGR_000111" "g.38145021A>T" "2/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1478T>A (p.ORF15+N492K)" "" "Germline" "" "" "0" "" "" "g.38285768A>T" "" "benign" "" "0000714192" "20" "90" "X" "38182773" "38182773" "del" "0" "00000" "RPGR_000457" "g.38182773del" "" "{PMID:Bader 2003:12657579}" "" "92delG" "" "Germline" "" "" "0" "" "" "g.38323520del" "" "pathogenic" "" "0000714193" "20" "10" "X" "38144822" "38144822" "subst" "0.139556" "00000" "RPGR_000074" "g.38144822C>T" "" "{PMID:Bader 2003:12657579}" "" "g.ORF15+1677A>G (p.ORF15+I559V)" "" "Germline" "" "" "0" "" "" "g.38285569C>T" "" "benign" "" "0000714194" "20" "90" "X" "38178096" "38178096" "subst" "0" "00000" "RPGR_000444" "g.38178096G>A" "" "{PMID:Bader 2003:12657579}" "" "514C>T" "" "Germline" "" "" "0" "" "" "g.38318843G>A" "" "pathogenic" "" "0000714195" "20" "90" "X" "38170025" "38176570" "del" "0" "00000" "RPGR_000439" "g.38170025_38176570del" "" "{PMID:Bader 2003:12657579}" "" "677_680delAACA" "" "Germline" "" "" "0" "" "" "g.38310772_38317317del" "" "pathogenic" "" "0000714196" "20" "90" "X" "38128423" "38164044" "del" "0" "00000" "RPGR_000316" "g.(?_38128423)_(38164044_38169867)del" "" "{PMID:Bader 2003:12657579}" "" "del ex11-19" "" "Germline" "" "" "0" "" "" "g.(?_38269170)_(38304791_38310614)del" "" "pathogenic" "" "0000714197" "20" "90" "X" "38163999" "38163999" "subst" "0" "00000" "RPGR_000172" "g.38163999C>T" "" "{PMID:Banin 2007:17480003}" "" "G275S" "semi-dominant inheritance" "Germline" "" "" "0" "" "" "g.38304746C>T" "" "pathogenic (!)" "" "0000714198" "20" "90" "X" "38169863" "38169863" "subst" "5.60994E-6" "00000" "RPGR_000281" "g.38169863C>T" "" "{PMID:Bauer 1998:9804156}" "" "IVS7+5G>A" "" "Germline" "" "" "0" "" "" "g.38310610C>T" "" "pathogenic" "" "0000714199" "20" "10" "X" "38182653" "38182653" "subst" "0.000377567" "00000" "RPGR_000056" "g.38182653G>A" "0.005" "{PMID:Breuer 2002:11992260}" "" "212C>T" "" "Germline" "" "" "0" "" "" "g.38323400G>A" "" "benign" "" "0000714200" "20" "10" "X" "38158290" "38158290" "subst" "0" "00000" "RPGR_000422" "g.38158290C>A" "0.049" "{PMID:Breuer 2002:11992260}" "" "1223G>T" "" "Germline" "" "" "0" "" "" "g.38299037C>A" "" "benign" "" "0000714201" "20" "10" "X" "38176553" "38176553" "subst" "0" "00000" "RPGR_000441" "g.38176553T>C" "0.011" "{PMID:Breuer 2002:11992260}" "" "IVS10+16A>G" "" "Germline" "" "" "0" "" "" "g.38317300T>C" "" "benign" "" "0000714202" "20" "10" "X" "38156677" "38156677" "subst" "0.102089" "00000" "RPGR_000002" "g.38156677C>T" "0.092" "{PMID:Breuer 2002:11992260}" "" "1333G>A" "" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "benign" "" "0000714203" "20" "10" "X" "38156660" "38156660" "subst" "0.0792322" "00000" "RPGR_000003" "g.38156660T>C" "0.063" "{PMID:Breuer 2002:11992260}" "" "1350A>G" "" "Germline" "" "" "0" "" "" "g.38297407T>C" "" "benign" "" "0000714204" "20" "10" "X" "38156656" "38156656" "subst" "0" "00000" "RPGR_000416" "g.38156656T>C" "0.005" "{PMID:Breuer 2002:11992260}" "" "1354A>G" "" "Germline" "" "" "0" "" "" "g.38297403T>C" "" "benign" "" "0000714205" "20" "10" "X" "38156584" "38156584" "subst" "0.0084194" "00000" "RPGR_000004" "g.38156584T>C" "0.019" "{PMID:Breuer 2002:11992260}" "" "1426A>G" "" "Germline" "" "" "0" "" "" "g.38297331T>C" "" "benign" "" "0000714206" "20" "10" "X" "38150374" "38150374" "subst" "0" "00000" "RPGR_000248" "g.38150374A>G" "0.016" "{PMID:Breuer 2002:11992260}" "" "IVS12-97T>C" "" "Germline" "" "" "0" "" "" "g.38291121A>G" "" "benign" "" "0000714207" "20" "10" "X" "38150376" "38150377" "dup" "0" "00000" "RPGR_000410" "g.38150376_38150377dup" "0.135" "{PMID:Breuer 2002:11992260}" "" "IVS12-93ins2" "" "Germline" "" "" "0" "" "" "g.38291123_38291124dup" "" "benign" "" "0000714208" "20" "10" "X" "38150201" "38150201" "subst" "0.0991745" "00000" "RPGR_000244" "g.38150201T>C" "0.016" "{PMID:Breuer 2002:11992260}" "" "IVS13+11A>G" "" "Germline" "" "" "0" "" "" "g.38290948T>C" "" "benign" "" "0000714209" "20" "10" "X" "38147291" "38147293" "del" "0" "00000" "RPGR_000008" "g.38147291_38147293del" "0.011" "{PMID:Breuer 2002:11992260}" "" "1635-1637del3" "" "Germline" "" "" "0" "" "" "g.38288038_38288040del" "" "benign" "" "0000714210" "20" "10" "X" "38147269" "38147269" "subst" "0.019054" "00000" "RPGR_000005" "g.38147269G>A" "0.014" "{PMID:Breuer 2002:11992260}" "" "1657C>T" "" "Germline" "" "" "0" "" "" "g.38288016G>A" "" "benign" "" "0000714211" "20" "10" "X" "38147180" "38147180" "subst" "5.05626E-5" "00000" "RPGR_000406" "g.38147180C>T" "0.072" "{PMID:Breuer 2002:11992260}" "" "1746G>A" "" "Germline" "" "" "0" "" "" "g.38287927C>T" "" "benign" "" "0000714212" "20" "10" "X" "38134536" "38134536" "" "0" "00000" "RPGR_000315" "g.38134536T=" "0.027" "{PMID:Breuer 2002:11992260}" "" "IVS16-137T>A" "" "Germline" "" "" "0" "" "" "g.38275283T=" "" "benign" "" "0000714213" "20" "10" "X" "38134296" "38134296" "subst" "0.0374881" "00000" "RPGR_000197" "g.38134296G>A" "0.027" "{PMID:Breuer 2002:11992260}" "" "IVS17+46C>T" "" "Germline" "" "" "0" "" "" "g.38275043G>A" "" "benign" "" "0000714214" "20" "10" "X" "38132628" "38132628" "subst" "0.19848" "00000" "RPGR_000015" "g.38132628A>G" "0.232" "{PMID:Breuer 2002:11992260}" "" "IVS18+11T>C" "" "Germline" "" "" "0" "" "" "g.38273375A>G" "" "benign" "" "0000714215" "20" "10" "X" "38145636" "38145637" "ins" "0" "00000" "RPGR_000352" "g.38145636_38145637insN[21]" "0.008" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+863ins21" "" "Germline" "" "" "0" "" "" "g.38286383_38286384insN[21]" "" "benign" "" "0000714216" "20" "10" "X" "38145585" "38145587" "del" "0" "00000" "RPGR_000219" "g.38145585_38145587del" "0.008" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+915_917del" "" "Germline" "" "" "0" "" "" "g.38286332_38286334del" "" "benign" "" "0000714217" "20" "10" "X" "38145534" "38145536" "del" "0" "00000" "RPGR_000342" "g.38145534_38145536del" "0.074" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+964_967del" "" "Germline" "" "" "0" "" "" "g.38286281_38286283del" "" "benign" "" "0000714218" "20" "10" "X" "38145430" "38145450" "dup" "0" "00000" "RPGR_000339" "g.38145430_38145450dup" "0.017" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+1052_1072dup" "" "Germline" "" "" "0" "" "" "g.38286177_38286197dup" "" "benign" "" "0000714219" "20" "10" "X" "38145270" "38145284" "del" "0" "00000" "RPGR_000328" "g.38145270_38145284del" "0.008" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+1221_1235del" "" "Germline" "" "" "0" "" "" "g.38286017_38286031del" "" "benign" "" "0000714220" "20" "10" "X" "38145190" "38145201" "del" "0" "00000" "RPGR_000202" "g.38145190_38145201del" "0.091" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+1299_1310del" "" "Germline" "" "" "0" "" "" "g.38285937_38285948del" "" "benign" "" "0000714221" "20" "10" "X" "38145180" "38145191" "del" "0" "00000" "RPGR_000201" "g.38145180_38145191del" "0.008" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+1309_1320del" "" "Germline" "" "" "0" "" "" "g.38285927_38285938del" "" "benign" "" "0000714222" "20" "90" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Breuer 2002:11992260}" "" "1293C>T" "" "Germline" "" "" "0" "" "" "g.38298967G>A" "" "pathogenic" "" "0000714223" "20" "90" "X" "38158207" "38158207" "subst" "0" "00000" "RPGR_000418" "g.38158207A>G" "" "{PMID:Breuer 2002:11992260}" "" "IVS10+2T>C" "" "Germline" "" "" "0" "" "" "g.38298954A>G" "" "pathogenic" "" "0000714224" "20" "90" "X" "38156644" "38156644" "subst" "0" "00000" "RPGR_000255" "g.38156644C>T" "" "{PMID:Breuer 2002:11992260}" "" "1366G>A" "" "Germline" "" "" "0" "" "" "g.38297391C>T" "" "pathogenic" "" "0000714225" "20" "90" "X" "38156606" "38156606" "subst" "0" "00000" "RPGR_000132" "g.38156606G>A" "" "{PMID:Breuer 2002:11992260}" "" "1404C>T" "" "Germline" "" "" "0" "" "" "g.38297353G>A" "" "pathogenic" "" "0000714226" "20" "90" "X" "38156582" "38156583" "del" "0" "00000" "RPGR_000415" "g.38156582_38156583del" "" "{PMID:Breuer 2002:11992260}" "" "1431_1432delAG" "" "Germline" "" "" "0" "" "" "g.38297329_38297330del" "" "pathogenic" "" "0000714227" "20" "90" "X" "38147181" "38147182" "del" "0" "00000" "RPGR_000407" "g.38147181_38147182del" "" "{PMID:Breuer 2002:11992260}" "" "1744_1745delAT" "" "Germline" "" "" "0" "" "" "g.38287928_38287929del" "" "pathogenic" "" "0000714228" "20" "90" "X" "38146068" "38146068" "del" "0" "00000" "RPGR_000389" "g.38146068del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+432delG (p.ORF15+E144fs)" "" "Germline" "" "" "0" "" "" "g.38286815del" "" "pathogenic" "" "0000714229" "20" "90" "X" "38146313" "38146314" "ins" "0" "00000" "RPGR_000399" "g.38146313_38146314insCCTCT" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+185_186insAGAGG (p.ORF15+A61fs)" "" "Germline" "" "" "0" "" "" "g.38287060_38287061insCCTCT" "" "pathogenic" "" "0000714230" "20" "90" "X" "38146039" "38146147" "dup" "0" "00000" "RPGR_000387" "g.38146039_38146147dup" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+352_460dup109 (p.ORF15+G153fs)" "" "Germline" "" "" "0" "" "" "g.38286786_38286894dup" "" "pathogenic" "" "0000714231" "20" "90" "X" "38146130" "38146130" "subst" "0" "00000" "RPGR_000394" "g.38146130C>A" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+369G>T (p.ORF15+E123X)" "" "Germline" "" "" "0" "" "" "g.38286877C>A" "" "pathogenic" "" "0000714232" "20" "90" "X" "38146106" "38146106" "subst" "0" "00000" "RPGR_000393" "g.38146106C>A" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+393G>T (p.ORF15+E131X)" "" "Germline" "" "" "0" "" "" "g.38286853C>A" "" "pathogenic" "" "0000714233" "20" "90" "X" "38146076" "38146076" "subst" "0" "00000" "RPGR_000390" "g.38146076C>A" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+423G>T (p.ORF15+E141X)" "" "Germline" "" "" "0" "" "" "g.38286823C>A" "" "pathogenic" "" "0000714234" "20" "90" "X" "38145992" "38145992" "subst" "0" "00000" "RPGR_000232" "g.38145992C>A" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+507G>T (p.ORF15+ E169X)" "" "Germline" "" "" "0" "" "" "g.38286739C>A" "" "pathogenic" "" "0000714235" "20" "90" "X" "38146076" "38146076" "subst" "0" "00000" "RPGR_000390" "g.38146076C>A" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+423G>T (p.ORF15+E141X)" "" "Germline" "" "" "0" "" "" "g.38286823C>A" "" "pathogenic" "" "0000714236" "20" "90" "X" "38145992" "38145992" "subst" "0" "00000" "RPGR_000232" "g.38145992C>A" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+507G>T (p.ORF15+ E169X)" "" "Germline" "" "" "0" "" "" "g.38286739C>A" "" "pathogenic" "" "0000714237" "20" "90" "X" "38146076" "38146076" "subst" "0" "00000" "RPGR_000390" "g.38146076C>A" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+423G>T (p.ORF15+E141X)" "" "Germline" "" "" "0" "" "" "g.38286823C>A" "" "pathogenic" "" "0000714238" "20" "90" "X" "38145992" "38145992" "subst" "0" "00000" "RPGR_000232" "g.38145992C>A" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+507G>T (p.ORF15+ E169X)" "" "Germline" "" "" "0" "" "" "g.38286739C>A" "" "pathogenic" "" "0000714239" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714240" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714241" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714242" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714243" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714244" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714245" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714246" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714247" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+480_481delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714248" "20" "90" "X" "38146016" "38146019" "del" "0" "00000" "RPGR_000384" "g.38146016_38146019del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+481_484delGAGA (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286763_38286766del" "" "pathogenic" "" "0000714249" "20" "90" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+503_506delGGGA (p.ORF15+E167fs)" "" "Germline" "" "" "0" "" "" "g.38286743_38286746del" "" "pathogenic" "" "0000714250" "20" "90" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+570_571delAG (p.ORF15+R190fs)" "" "Germline" "" "" "0" "" "" "g.38286680_38286681del" "" "pathogenic" "" "0000714251" "20" "90" "X" "38145868" "38145868" "del" "0" "00000" "RPGR_000063" "g.38145868del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+631delA (p.ORF15+E210fs)" "" "Germline" "" "" "0" "" "" "g.38286615del" "" "pathogenic" "" "0000714252" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+650_651delAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714253" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+650_651delAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714254" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+650_651delAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714255" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+650_651delAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714256" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+650_651delAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714257" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+650_651delAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714258" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+652_653delAG (p.ORF15E217fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714259" "20" "90" "X" "38145316" "38145317" "del" "0" "00000" "RPGR_000331" "g.38145316_38145317del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+1182_1183delGG (p.ORF15+E394fs)" "" "Germline" "" "" "0" "" "" "g.38286063_38286064del" "" "pathogenic" "" "0000714260" "20" "90" "X" "38145256" "38145257" "del" "0" "00000" "RPGR_000326" "g.38145256_38145257del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+1242_1243delGG (p.ORF15+G414fs)" "" "Germline" "" "" "0" "" "" "g.38286003_38286004del" "" "pathogenic" "" "0000714261" "20" "90" "X" "38145162" "38145163" "del" "0" "00000" "RPGR_000322" "g.38145162_38145163del" "" "{PMID:Breuer 2002:11992260}" "" "g.ORF15+1337_1338delAG (p.ORF15+G445fs)" "" "Germline" "" "" "0" "" "" "g.38285909_38285910del" "" "pathogenic" "" "0000714262" "20" "90" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000449" "g.38180279C>G" "" "{PMID:Breuer 2002:11992260}" "" "IVS4+1G>C" "" "Germline" "" "" "0" "" "" "g.38321026C>G" "" "pathogenic" "" "0000714263" "21" "90" "X" "38178172" "38178172" "subst" "0" "00000" "RPGR_000446" "g.38178172T>C" "" "{PMID:Breuer 2002:11992260}" "" "438A>G" "" "Germline" "" "" "0" "" "" "g.38318919T>C" "" "pathogenic" "" "0000714264" "20" "90" "X" "38156606" "38156606" "subst" "0" "00000" "RPGR_000132" "g.38156606G>A" "" "Demirci ARVO2003" "" "1404C>T" "" "Germline" "" "" "0" "" "" "g.38297353G>A" "" "pathogenic" "" "0000714265" "20" "90" "X" "38178136" "38178136" "subst" "0" "00000" "RPGR_000297" "g.38178136C>A" "" "{PMID:Breuer 2002:11992260}" "" "474G>T" "" "Germline" "" "" "0" "" "" "g.38318883C>A" "" "pathogenic" "" "0000714266" "20" "90" "X" "38145587" "38145587" "subst" "0" "00000" "RPGR_000349" "g.38145587C>A" "" "{PMID:Demirci 2006:16387007}" "" "g.ORF15+912G>T (p.ORF15+E304X)" "" "Germline" "" "" "0" "" "" "g.38286334C>A" "" "pathogenic" "" "0000714267" "20" "90" "X" "38176705" "38176706" "del" "0" "00000" "RPGR_000069" "g.38176705_38176706del" "" "{PMID:Breuer 2002:11992260}" "" "541_542delTT" "" "Germline" "" "" "0" "" "" "g.38317452_38317453del" "" "pathogenic" "" "0000714268" "20" "90" "X" "38145323" "38145323" "subst" "0" "00000" "RPGR_000206" "g.38145323C>A" "" "{PMID:Ebenezer 2005:15914600}" "" "g.ORf15+1176G>T (p.ORF15+G392X)" "" "Germline" "" "" "0" "" "" "g.38286070C>A" "" "pathogenic" "" "0000714269" "20" "90" "X" "38176696" "38176696" "subst" "0" "00000" "RPGR_000294" "g.38176696C>T" "" "{PMID:Breuer 2002:11992260}" "" "551G>A" "" "Germline" "" "" "0" "" "" "g.38317443C>T" "" "pathogenic" "" "0000714270" "20" "90" "X" "38145404" "38145405" "inv" "0" "00000" "RPGR_000337" "g.38145404_38145405inv" "" "{PMID:Ebenezer 2005:15914600}" "" "g.ORF15+1094A>C;1095G>T (p.ORF15+E364D;E365X)" "" "Germline" "" "" "0" "" "" "g.38286151_38286152inv" "" "pathogenic" "" "0000714271" "20" "90" "X" "38176671" "38176671" "subst" "0" "00000" "RPGR_000443" "g.38176671C>G" "" "{PMID:Breuer 2002:11992260}" "" "576G>C" "" "Germline" "" "" "0" "" "" "g.38317418C>G" "" "pathogenic" "" "0000714272" "20" "90" "X" "38170010" "38170020" "del" "0" "00000" "RPGR_000437" "g.38170010_38170020del" "" "{PMID:Breuer 2002:11992260}" "" "688_698del11" "" "Germline" "" "" "0" "" "" "g.38310757_38310767del" "" "pathogenic" "" "0000714273" "20" "90" "X" "38182174" "38182174" "subst" "0" "00000" "RPGR_000055" "g.38182174C>A" "" "{PMID:Fishman 1998:9855162}" "" "238G>T" "" "Germline" "" "" "0" "" "" "g.38322921C>A" "" "pathogenic" "" "0000714274" "20" "90" "X" "38169897" "38169897" "subst" "0" "00000" "RPGR_000435" "g.38169897C>T" "" "{PMID:Breuer 2002:11992260}" "" "808G>A" "" "Germline" "" "" "0" "" "" "g.38310644C>T" "" "pathogenic" "" "0000714275" "20" "90" "X" "38182174" "38182174" "subst" "0" "00000" "RPGR_000055" "g.38182174C>A" "" "{PMID:Fishman 1998:9855162}" "" "238G>T" "" "Germline" "" "" "0" "" "" "g.38322921C>A" "" "pathogenic" "" "0000714276" "20" "10" "X" "38145734" "38145735" "del" "0" "00000" "RPGR_000362" "g.38145734_38145735del" "" "Gire 2003 (Vis Sci44:Abstract 2313)" "" "g.ORF15+764_765delAG (p.ORF15+E254fs)" "" "Germline" "" "" "0" "" "" "g.38286481_38286482del" "" "benign" "" "0000714277" "20" "90" "X" "38169874" "38169876" "del" "0" "00000" "RPGR_000434" "g.38169874_38169876del" "" "{PMID:Breuer 2002:11992260}" "" "830_832delTCT" "" "Germline" "" "" "0" "" "" "g.38310621_38310623del" "" "pathogenic" "" "0000714278" "20" "90" "X" "38176671" "38176671" "subst" "0" "00000" "RPGR_000443" "g.38176671C>G" "" "{PMID:Iannaccone 2003:14627685}" "" "G576C" "" "Germline" "" "" "0" "" "" "g.38317418C>G" "" "pathogenic" "" "0000714279" "20" "90" "X" "38164023" "38164023" "subst" "0" "00000" "RPGR_000431" "g.38164023C>T" "" "{PMID:Breuer 2002:11992260}" "" "858G>A" "" "Germline" "" "" "0" "" "" "g.38304770C>T" "" "pathogenic" "" "0000714280" "20" "90" "X" "38146250" "38146250" "del" "0" "00000" "RPGR_000397" "g.38146250del" "" "Itabash 2004, ARVO Vis Sci 45:E2468" "" "g.ORF15+249delC (p.ORF15+H83fs)" "" "Germline" "" "" "0" "" "" "g.38286997del" "" "pathogenic" "" "0000714281" "20" "90" "X" "38163957" "38163957" "subst" "0.000124097" "00000" "RPGR_000277" "g.38163957T>C" "" "{PMID:Breuer 2002:11992260}" "" "924A>G" "" "Germline" "" "" "0" "" "" "g.38304704T>C" "" "pathogenic" "" "0000714282" "21" "90" "X" "38145274" "38145300" "delins" "0" "00000" "RPGR_000329" "g.38145274_38145300delinsA" "" "Itabash 2004, ARVO Vis Sci 45:E2468" "" "g.ORF15+1199_1225del27insT (p.ORF15+E399fs)" "" "Germline" "" "" "0" "" "" "g.38286021_38286047delinsA" "" "pathogenic" "" "0000714283" "20" "90" "X" "38145158" "38145159" "del" "0" "00000" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Demirci 2002:11857109}" "" "g.ORF15+1343_1344delGG (p.ORF15+G447fs)" "" "Germline" "" "" "0" "" "" "g.38285905_38285906del" "" "pathogenic" "" "0000714284" "20" "90" "X" "38146299" "38146299" "dup" "0" "00000" "RPGR_000398" "g.38146299dup" "" "Itabash 2004, ARVO Vis Sci 45:E2468" "" "g.ORf15+199_200insT (p.ORF15+P66fs)" "" "Germline" "" "" "0" "" "" "g.38287046dup" "" "pathogenic" "" "0000714285" "20" "90" "X" "38145162" "38145163" "del" "0" "00000" "RPGR_000322" "g.38145162_38145163del" "" "{PMID:Demirci 2002:11857109}" "" "g.ORF15+1339_1340delAG (p.ORF15+E446fs)" "" "Germline" "" "" "0" "" "" "g.38285909_38285910del" "" "pathogenic" "" "0000714286" "20" "90" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000312" "g.38182652C>A" "" "{PMID:Jacobson 1997:9331262}" "" "213G>T" "" "Germline" "" "" "0" "" "" "g.38323399C>A" "" "pathogenic" "" "0000714287" "20" "90" "X" "38145158" "38145159" "del" "0" "00000" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Demirci 2002:11857109}" "" "g.ORF15+1343_1344delGG (p.ORF15+G447fs)" "" "Germline" "" "" "0" "" "" "g.38285905_38285906del" "" "pathogenic" "" "0000714288" "20" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "Jin 2005, ARVO Vis Sci 46:E1825" "" "g.ORF15+672_673delGA (p.ORF15+E224fs)" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic" "" "0000714289" "21" "10" "X" "38144824" "38144824" "subst" "0" "00000" "RPGR_000318" "g.38144824T>C" "" "Jin 2005, ARVO Vis Sci 46:E1825" "" "g.ORF15+1675A>G (p.ORF15+N558S)" "" "Germline" "" "" "0" "" "" "g.38285571T>C" "" "benign" "" "0000714290" "20" "90" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Demirci 2002:11857109}" "" "g.ORF15+1564_1565insA (p.ORF15+K521fs)" "" "Germline" "" "" "0" "" "" "g.38285688dup" "" "pathogenic" "" "0000714291" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "Jin 2005, ARVO Vis Sci 46:E1825" "" "g.ORF15+482_483delAG (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714292" "20" "90" "X" "38145268" "38145269" "del" "0" "00000" "RPGR_000327" "g.38145268_38145269del" "" "Jin 2005, ARVO Vis Sci 46:E1825" "" "g.ORf15+1231_1232delGG (p.ORF15+G410fs)" "" "Germline" "" "" "0" "" "" "g.38286015_38286016del" "" "pathogenic" "" "0000714293" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Li 2005:16086276}" "" "g.ORF15+483_484delGA (p.ORF15+E161fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714294" "20" "90" "X" "38146329" "38146329" "dup" "0" "00000" "RPGR_000400" "g.38146329dup" "" "{PMID:Mears 2000:10970770}" "" "g.ORF15+173_174insA (p.ORF15+S58fs)" "" "Germline" "" "" "0" "" "" "g.38287076dup" "" "pathogenic" "" "0000714295" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "Naoi 2003, ARVO Vis Sci 44:E2311" "" "g.ORF15+651_652delGA (p.ORF15+E217fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714296" "20" "10" "X" "38145667" "38145668" "del" "0" "00000" "RPGR_000357" "g.38145667_38145668del" "" "Naoi 2003, ARVO Vis Sci 44:E2311" "" "g.ORF15+833_834delGG (p.ORF15G277fs)" "" "Germline" "" "" "0" "" "" "g.38286414_38286415del" "" "benign" "" "0000714297" "20" "10" "X" "38145640" "38145641" "dup" "0" "00000" "RPGR_000353" "g.38145640_38145641dup" "" "Naoi 2003, ARVO Vis Sci 44:E2311" "" "g.ORF15+861_862insGG (p.ORF15+E287fs)" "" "Germline" "" "" "0" "" "" "g.38286387_38286388dup" "" "benign" "" "0000714298" "20" "90" "X" "38146382" "38146383" "del" "0" "00000" "RPGR_000403" "g.38146382_38146383del" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+119_120delGA (p.ORF15+E39fs)" "" "Germline" "" "" "0" "" "" "g.38287129_38287130del" "" "pathogenic" "" "0000714299" "20" "10" "X" "38145709" "38145709" "del" "0" "00000" "RPGR_000361" "g.38145709del" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+790delA (p.ORF15+E263fs)" "" "Germline" "" "" "0" "" "" "g.38286456del" "" "benign" "" "0000714300" "20" "10" "X" "38145625" "38145626" "del" "0" "00000" "RPGR_000220" "g.38145625_38145626del" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+875_876delGG (p.ORF15+G291fs)" "" "Germline" "" "" "0" "" "" "g.38286372_38286373del" "" "benign" "" "0000714301" "20" "90" "X" "38145256" "38145257" "del" "0" "00000" "RPGR_000326" "g.38145256_38145257del" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+1244_1245delGG (p.ORF15+G414fs)" "" "Germline" "" "" "0" "" "" "g.38286003_38286004del" "" "pathogenic" "" "0000714302" "20" "90" "X" "38145020" "38145020" "subst" "0" "00000" "RPGR_000320" "g.38145020C>A" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+1479G>T (p.ORF15+E493X)" "" "Germline" "" "" "0" "" "" "g.38285767C>A" "" "pathogenic" "" "0000714303" "20" "90" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+414delA (p.ORF15+E136fs)" "" "Germline" "" "" "0" "" "" "g.38286834del" "" "pathogenic" "" "0000714304" "20" "90" "X" "38145868" "38145868" "del" "0" "00000" "RPGR_000063" "g.38145868del" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+631delA (p.ORF15+E210fs)" "" "Germline" "" "" "0" "" "" "g.38286615del" "" "pathogenic" "" "0000714305" "20" "90" "X" "38145780" "38145781" "del" "0" "00000" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+723_724delAG (p.ORF15+R241fs)" "" "Germline" "" "" "0" "" "" "g.38286527_38286528del" "" "pathogenic" "" "0000714306" "20" "90" "X" "38145780" "38145781" "del" "0" "00000" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+723_724delAG (p.ORF15+R241fs)" "" "Germline" "" "" "0" "" "" "g.38286527_38286528del" "" "pathogenic" "" "0000714307" "20" "90" "X" "38145736" "38145776" "dup" "0" "00000" "RPGR_000364" "g.38145736_38145776dup" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+727_767dup41 (p.ORF15+E256fs)" "" "Germline" "" "" "0" "" "" "g.38286483_38286523dup" "" "pathogenic" "" "0000714308" "20" "10" "X" "38145662" "38145662" "subst" "0" "00000" "RPGR_000356" "g.38145662C>A" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+837G>T (p.ORF15+E279X)" "" "Germline" "" "" "0" "" "" "g.38286409C>A" "" "benign" "" "0000714309" "20" "90" "X" "38145470" "38145470" "subst" "0" "00000" "RPGR_000341" "g.38145470C>A" "" "{PMID:Pusch 2002:12402343}" "" "g.ORF15+1029G>T (p.ORF15+G343X)" "" "Germline" "" "" "0" "" "" "g.38286217C>A" "" "pathogenic" "" "0000714310" "20" "90" "X" "38144933" "38144936" "del" "0" "00000" "RPGR_000319" "g.38144933_38144936del" "" "{PMID:Rebello 2003:12859409}" "" "g.ORF15+1563_1566delAAGT (p.ORF15+K521fs)" "" "Germline" "" "" "0" "" "" "g.38285680_38285683del" "" "pathogenic" "" "0000714311" "20" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Roepman 1996:8776599], {PMID:Kirschne 1999:10401007}" "" "6.4kb deletion IVS15+1.5kb and IVS15+7.9kb (IVS15a+70)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000714312" "21" "10" "X" "38145681" "38145752" "del" "0" "00000" "RPGR_000359" "g.38145681_38145752del" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+748_768del21 (p.ORF15+E249_G255del)" "" "Germline" "" "" "0" "" "" "g.38286428_38286499del" "" "benign" "" "0000714313" "20" "10" "X" "38145585" "38145587" "del" "0" "00000" "RPGR_000219" "g.38145585_38145587del" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+912_914delGAG (p.ORF15+E304del)" "" "Germline" "" "" "0" "" "" "g.38286332_38286334del" "" "benign" "" "0000714314" "20" "90" "X" "38146065" "38146065" "del" "0" "00000" "RPGR_000388" "g.38146065del" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+434delG (p.ORF15+E144fs)" "" "Germline" "" "" "0" "" "" "g.38286812del" "" "pathogenic" "" "0000714315" "20" "90" "X" "38146034" "38146034" "subst" "0" "00000" "RPGR_000386" "g.38146034C>A" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+465G>T (p.ORF15+E155X)" "" "Germline" "" "" "0" "" "" "g.38286781C>A" "" "pathogenic" "" "0000714316" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+481_482delGA (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714317" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+481_482delGA (p.ORF15+R160fs)" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000714318" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+650_651delAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714319" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+650_651delAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000714320" "20" "90" "X" "38145569" "38145569" "subst" "0" "00000" "RPGR_000347" "g.38145569C>A" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+930G>T (p.ORF15+G310X)" "" "Germline" "" "" "0" "" "" "g.38286316C>A" "" "pathogenic" "" "0000714321" "20" "90" "X" "38145440" "38145440" "subst" "0" "00000" "RPGR_000213" "g.38145440C>A" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+1059G>T (p.ORF15+E353X)" "" "Germline" "" "" "0" "" "" "g.38286187C>A" "" "pathogenic" "" "0000714322" "20" "90" "X" "38145413" "38145417" "del" "0" "00000" "RPGR_000338" "g.38145413_38145417del" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+1083_1087del5 (p.ORF15+G361fs)" "" "Germline" "" "" "0" "" "" "g.38286160_38286164del" "" "pathogenic" "" "0000714323" "20" "10" "X" "38160526" "38160526" "subst" "0.00703357" "00000" "RPGR_000046" "g.38160526T>C" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1092A>G" "" "Germline" "" "" "0" "" "" "g.38301273T>C" "" "benign" "" "0000714324" "20" "10" "X" "38158290" "38158290" "subst" "0.109585" "00000" "RPGR_000001" "g.38158290C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1223G>A" "" "Germline" "" "" "0" "" "" "g.38299037C>T" "" "benign" "" "0000714325" "20" "10" "X" "38156718" "38156718" "del" "0" "00000" "RPGR_000417" "g.38156718del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS10-13del C" "" "Germline" "" "" "0" "" "" "g.38297465del" "" "benign" "" "0000714326" "20" "10" "X" "38156677" "38156677" "subst" "0.102089" "00000" "RPGR_000002" "g.38156677C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1333G>A" "" "Germline" "" "" "0" "" "" "g.38297424C>T" "" "benign" "" "0000714327" "20" "10" "X" "38156660" "38156660" "subst" "0.0792322" "00000" "RPGR_000003" "g.38156660T>C" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1350A>G" "" "Germline" "" "" "0" "" "" "g.38297407T>C" "" "benign" "" "0000714328" "20" "10" "X" "38150380" "38150383" "del" "0" "00000" "RPGR_000412" "g.38150380_38150383del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS12-101_104del4" "" "Germline" "" "" "0" "" "" "g.38291127_38291130del" "" "benign" "" "0000714329" "20" "10" "X" "38150376" "38150377" "del" "0" "00000" "RPGR_000411" "g.38150376_38150377del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS12-92_93del2" "" "Germline" "" "" "0" "" "" "g.38291123_38291124del" "" "benign" "" "0000714330" "20" "10" "X" "38150376" "38150377" "dup" "0" "00000" "RPGR_000410" "g.38150376_38150377dup" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS12-93ins2" "" "Germline" "" "" "0" "" "" "g.38291123_38291124dup" "" "benign" "" "0000714331" "20" "10" "X" "38150374" "38150374" "subst" "0" "00000" "RPGR_000248" "g.38150374A>G" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS12-97T>C" "" "Germline" "" "" "0" "" "" "g.38291121A>G" "" "benign" "" "0000714332" "20" "10" "X" "38150201" "38150201" "subst" "0.0991745" "00000" "RPGR_000244" "g.38150201T>C" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS13+11A>G" "" "Germline" "" "" "0" "" "" "g.38290948T>C" "" "benign" "" "0000714333" "20" "10" "X" "38147170" "38147170" "subst" "0.102629" "00000" "RPGR_000006" "g.38147170C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1756G>A" "" "Germline" "" "" "0" "" "" "g.38287917C>T" "" "benign" "" "0000714334" "20" "10" "X" "38134296" "38134296" "subst" "0.0374881" "00000" "RPGR_000197" "g.38134296G>A" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS17+46C>T" "" "Germline" "" "" "0" "" "" "g.38275043G>A" "" "benign" "" "0000714335" "20" "10" "X" "38132628" "38132628" "subst" "0.19848" "00000" "RPGR_000015" "g.38132628A>G" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS18+11T>C" "" "Germline" "" "" "0" "" "" "g.38273375A>G" "" "benign" "" "0000714336" "20" "10" "X" "38145758" "38145759" "del" "0" "00000" "RPGR_000369" "g.38145758_38145759del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+740_741delGG (p.ORF15+E246fs)" "" "Germline" "" "" "0" "" "" "g.38286505_38286506del" "" "benign" "" "0000714337" "20" "10" "X" "38145753" "38145753" "del" "0" "00000" "RPGR_000368" "g.38145753del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+746delT (p.ORF15+G248fs)" "" "Germline" "" "" "0" "" "" "g.38286500del" "" "benign" "" "0000714338" "20" "10" "X" "38145749" "38145750" "del" "0" "00000" "RPGR_000365" "g.38145749_38145750del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+752_753delGG (p.ORF15+G250fs)" "" "Germline" "" "" "0" "" "" "g.38286496_38286497del" "" "benign" "" "0000714339" "20" "10" "X" "38145734" "38145738" "del" "0" "00000" "RPGR_000227" "g.38145734_38145738del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+763_767delAAGGG (p.ORF15+E254fs)" "" "Germline" "" "" "0" "" "" "g.38286481_38286485del" "" "benign" "" "0000714340" "20" "10" "X" "38145734" "38145735" "del" "0" "00000" "RPGR_000362" "g.38145734_38145735del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+764_765delAG (p.ORF15+E254fs)" "" "Germline" "" "" "0" "" "" "g.38286481_38286482del" "" "benign" "" "0000714341" "20" "10" "X" "38145680" "38145681" "del" "0" "00000" "RPGR_000358" "g.38145680_38145681del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+818_819delAG (p.ORF15+K272fs)" "" "Germline" "" "" "0" "" "" "g.38286427_38286428del" "" "benign" "" "0000714342" "20" "10" "X" "38145640" "38145641" "del" "0" "00000" "RPGR_000354" "g.38145640_38145641del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+860_861delGG (p.ORF15+G286fs)" "" "Germline" "" "" "0" "" "" "g.38286387_38286388del" "" "benign" "" "0000714343" "20" "10" "X" "38176553" "38176553" "subst" "0" "00000" "RPGR_000441" "g.38176553T>C" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS10+16A>G" "" "Germline" "" "" "0" "" "" "g.38317300T>C" "" "benign" "" "0000714344" "20" "10" "X" "38170067" "38170067" "subst" "0.0162883" "00000" "RPGR_000440" "g.38170067A>G" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS6-41T>C" "" "Germline" "" "" "0" "" "" "g.38310814A>G" "" "benign" "" "0000714345" "20" "10" "X" "38169914" "38169914" "subst" "0.00193277" "00000" "RPGR_000007" "g.38169914C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "791G>A" "" "Germline" "" "" "0" "" "" "g.38310661C>T" "" "benign" "" "0000714346" "20" "90" "X" "38158366" "38158366" "dup" "0" "00000" "RPGR_000265" "g.38158366dup" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1151_1152insT" "" "Germline" "" "" "0" "" "" "g.38299113dup" "" "pathogenic" "" "0000714347" "20" "90" "X" "38158355" "38158355" "del" "0" "00000" "RPGR_000423" "g.38158355del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1159delC" "" "Germline" "" "" "0" "" "" "g.38299102del" "" "pathogenic" "" "0000714348" "20" "90" "X" "38182679" "38182679" "subst" "0" "00000" "RPGR_000454" "g.38182679C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "186G>A" "" "Germline" "" "" "0" "" "" "g.38323426C>T" "" "pathogenic" "" "0000714349" "20" "90" "X" "38182678" "38182678" "subst" "0" "00000" "RPGR_000453" "g.38182678C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "187G>A" "" "Germline" "" "" "0" "" "" "g.38323425C>T" "" "pathogenic" "" "0000714350" "20" "90" "X" "38156644" "38156644" "subst" "0" "00000" "RPGR_000255" "g.38156644C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1366G>A" "" "Germline" "" "" "0" "" "" "g.38297391C>T" "" "pathogenic" "" "0000714351" "20" "90" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1435_1436delTC" "" "Germline" "" "" "0" "" "" "g.38297321_38297322del" "" "pathogenic" "" "0000714352" "20" "90" "X" "38147295" "38147295" "subst" "0" "00000" "RPGR_000409" "g.38147295C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS13-1G>A" "" "Germline" "" "" "0" "" "" "g.38288042C>T" "" "pathogenic" "" "0000714353" "20" "90" "X" "38147287" "38147290" "del" "0" "00000" "RPGR_000241" "g.38147287_38147290del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "1641_1644del4" "" "Germline" "" "" "0" "" "" "g.38288034_38288037del" "" "pathogenic" "" "0000714354" "20" "90" "X" "38147120" "38147120" "subst" "0" "00000" "RPGR_000405" "g.38147120C>A" "" "{PMID:Sharon 2003:14564670}" "" "1806G>T" "" "Germline" "" "" "0" "" "" "g.38287867C>A" "" "pathogenic" "" "0000714355" "20" "90" "X" "38182174" "38182174" "subst" "0" "00000" "RPGR_000055" "g.38182174C>A" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "238G>T" "" "Germline" "" "" "0" "" "" "g.38322921C>A" "" "pathogenic" "" "0000714356" "20" "90" "X" "38146420" "38146420" "dup" "0" "00000" "RPGR_000404" "g.38146420dup" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "g.ORF15+82_83insA (p.ORF15+N27fs)" "" "Germline" "" "" "0" "" "" "g.38287167dup" "" "pathogenic" "" "0000714357" "20" "90" "X" "38146144" "38146147" "dup" "0" "00000" "RPGR_000395" "g.38146144_38146147dup" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+356_357insGAAG (p.ORF15+K119fs)" "" "Germline" "" "" "0" "" "" "g.38286891_38286894dup" "" "pathogenic" "" "0000714358" "20" "90" "X" "38145537" "38145538" "del" "0" "00000" "RPGR_000218" "g.38145537_38145538del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+961_962delAA (p.ORF15+E320fs)" "" "Germline" "" "" "0" "" "" "g.38286284_38286285del" "" "pathogenic" "" "0000714359" "20" "90" "X" "38145983" "38145984" "del" "0" "00000" "RPGR_000382" "g.38145983_38145984del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+517_518delAG (p.ORF15+E172fs)" "" "Germline" "" "" "0" "" "" "g.38286730_38286731del" "" "pathogenic" "" "0000714360" "20" "90" "X" "38145959" "38145959" "subst" "0" "00000" "RPGR_000381" "g.38145959C>A" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+540G>T (p.ORF15+ E180X)" "" "Germline" "" "" "0" "" "" "g.38286706C>A" "" "pathogenic" "" "0000714361" "20" "90" "X" "38145912" "38145912" "del" "0" "00000" "RPGR_000378" "g.38145912del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+587delA (p.ORF15+R195fs)" "" "Germline" "" "" "0" "" "" "g.38286659del" "" "pathogenic" "" "0000714362" "20" "90" "X" "38145895" "38145896" "del" "0" "00000" "RPGR_000377" "g.38145895_38145896del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+604_605delAA (p.ORF15+K201fs)" "" "Germline" "" "" "0" "" "" "g.38286642_38286643del" "" "pathogenic" "" "0000714363" "20" "90" "X" "38145846" "38145849" "del" "0" "00000" "RPGR_000375" "g.38145846_38145849del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+650_653delAGAG (p.ORF15+T216fs)" "" "Germline" "" "" "0" "" "" "g.38286593_38286596del" "" "pathogenic" "" "0000714364" "20" "90" "X" "38145842" "38145843" "del" "0" "00000" "RPGR_000374" "g.38145842_38145843del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+659_660delAG (p.ORF15+R219fs)" "" "Germline" "" "" "0" "" "" "g.38286589_38286590del" "" "pathogenic" "" "0000714365" "20" "90" "X" "38145831" "38145832" "del" "0" "00000" "RPGR_000373" "g.38145831_38145832del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+670_671delAA (p.ORF15+K223fs)" "" "Germline" "" "" "0" "" "" "g.38286578_38286579del" "" "pathogenic" "" "0000714366" "20" "90" "X" "38145815" "38145815" "subst" "0" "00000" "RPGR_000372" "g.38145815C>A" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+684G>T (p.ORF15+ E228X)" "" "Germline" "" "" "0" "" "" "g.38286562C>A" "" "pathogenic" "" "0000714367" "20" "90" "X" "38180348" "38180348" "subst" "0" "00000" "RPGR_000451" "g.38180348A>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS3-6T>A" "" "Germline" "" "" "0" "" "" "g.38321095A>T" "" "pathogenic" "" "0000714368" "20" "90" "X" "38145761" "38145761" "subst" "0" "00000" "RPGR_000370" "g.38145761C>A" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+738G>T (p.ORF15+E246X)" "" "Germline" "" "" "0" "" "" "g.38286508C>A" "" "pathogenic" "" "0000714369" "20" "90" "X" "38145602" "38145602" "subst" "0" "00000" "RPGR_000188" "g.38145602C>A" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+897G>T (p.ORF15+E299X)" "" "Germline" "" "" "0" "" "" "g.38286349C>A" "" "pathogenic" "" "0000714370" "20" "90" "X" "38145598" "38145599" "del" "0" "00000" "RPGR_000351" "g.38145598_38145599del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+902_903delGG (p.ORF15+G300fs)" "" "Germline" "" "" "0" "" "" "g.38286345_38286346del" "" "pathogenic" "" "0000714371" "20" "90" "X" "38145595" "38145598" "del" "0" "00000" "RPGR_000350" "g.38145595_38145598del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+906_909delGGAG (p.ORF15+G302fs)" "" "Germline" "" "" "0" "" "" "g.38286342_38286345del" "" "pathogenic" "" "0000714372" "20" "90" "X" "38145574" "38145575" "del" "0" "00000" "RPGR_000348" "g.38145574_38145575del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+926_927delGG (p.ORF15+G308fs)" "" "Germline" "" "" "0" "" "" "g.38286321_38286322del" "" "pathogenic" "" "0000714373" "20" "90" "X" "38145545" "38145545" "subst" "0" "00000" "RPGR_000346" "g.38145545C>A" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+954G>T (p.ORF15+E318X)" "" "Germline" "" "" "0" "" "" "g.38286292C>A" "" "pathogenic" "" "0000714374" "20" "90" "X" "38145536" "38145537" "ins" "0" "00000" "RPGR_000344" "g.38145536_38145537insGAGG" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+962_963insCCTC (p.ORF15E321fs)" "" "Germline" "" "" "0" "" "" "g.38286283_38286284insGAGG" "" "pathogenic" "" "0000714375" "20" "90" "X" "38145536" "38145536" "subst" "0" "00000" "RPGR_000343" "g.38145536C>A" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+963G>T (p.ORF15+E321X)" "" "Germline" "" "" "0" "" "" "g.38286283C>A" "" "pathogenic" "" "0000714376" "20" "90" "X" "38186592" "38186592" "subst" "0" "00000" "RPGR_000314" "g.38186592C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS1+1G>A" "" "Germline" "" "" "0" "" "" "g.38327339C>T" "" "pathogenic" "" "0000714377" "20" "90" "X" "38145452" "38145452" "subst" "0" "00000" "RPGR_000340" "g.38145452C>A" "" "{PMID:Sharon 2003:14564670}" "" "g.ORf15+1047G>T (p.ORF15+E349X)" "" "Germline" "" "" "0" "" "" "g.38286199C>A" "" "pathogenic" "" "0000714378" "20" "90" "X" "38145399" "38145402" "del" "0" "00000" "RPGR_000336" "g.38145399_38145402del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+1098_1101delGAGG (p.ORF15+E366fs)" "" "Germline" "" "" "0" "" "" "g.38286146_38286149del" "" "pathogenic" "" "0000714379" "20" "90" "X" "38145388" "38145388" "del" "0" "00000" "RPGR_000335" "g.38145388del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+1113delG (p.ORF15+E371fs)" "" "Germline" "" "" "0" "" "" "g.38286135del" "" "pathogenic" "" "0000714380" "20" "90" "X" "38145357" "38145357" "del" "0" "00000" "RPGR_000333" "g.38145357del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+1146delG (p.ORF15+E382fs)" "" "Germline" "" "" "0" "" "" "g.38286104del" "" "pathogenic" "" "0000714381" "20" "90" "X" "38145312" "38145312" "del" "0" "00000" "RPGR_000330" "g.38145312del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+1191delG (p.ORF15+E397fs)" "" "Germline" "" "" "0" "" "" "g.38286059del" "" "pathogenic" "" "0000714382" "20" "90" "X" "38145242" "38145245" "del" "0" "00000" "RPGR_000324" "g.38145242_38145245del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORf15+1254_1257delGGAG (p.ORF15+G418fs)" "" "Germline" "" "" "0" "" "" "g.38285989_38285992del" "" "pathogenic" "" "0000714383" "20" "90" "X" "38145243" "38145244" "del" "0" "00000" "RPGR_000060" "g.38145243_38145244del" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+1258_1259delAG (p.ORF15+E419fs)" "" "Germline" "" "" "0" "" "" "g.38285990_38285991del" "" "pathogenic" "" "0000714384" "20" "90" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000450" "g.38180279C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS4+1G>A" "" "Germline" "" "" "0" "" "" "g.38321026C>T" "" "pathogenic" "" "0000714385" "20" "90" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000449" "g.38180279C>G" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "IVS4+1G>C" "" "Germline" "" "" "0" "" "" "g.38321026C>G" "" "pathogenic" "" "0000714386" "20" "90" "X" "38145041" "38145041" "subst" "0" "00000" "RPGR_000321" "g.38145041C>A" "" "{PMID:Sharon 2003:14564670}" "" "g.ORF15+1458G>T (p.ORF15+E486X)" "" "Germline" "" "" "0" "" "" "g.38285788C>A" "" "pathogenic" "" "0000714387" "20" "90" "X" "38178196" "38178196" "del" "0" "00000" "RPGR_000447" "g.38178196del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "415delT" "" "Germline" "" "" "0" "" "" "g.38318943del" "" "pathogenic" "" "0000714388" "20" "90" "X" "38178172" "38178172" "subst" "0" "00000" "RPGR_000446" "g.38178172T>C" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "438A>G" "" "Germline" "" "" "0" "" "" "g.38318919T>C" "" "pathogenic" "" "0000714389" "20" "90" "X" "38176705" "38176706" "del" "0" "00000" "RPGR_000069" "g.38176705_38176706del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "544_545delTT" "" "Germline" "" "" "0" "" "" "g.38317452_38317453del" "" "pathogenic" "" "0000714390" "20" "90" "X" "38176583" "38176583" "subst" "0" "00000" "RPGR_000442" "g.38176583G>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "664C>A" "" "Germline" "" "" "0" "" "" "g.38317330G>T" "" "pathogenic" "" "0000714391" "20" "90" "X" "38169900" "38169900" "del" "0" "00000" "RPGR_000436" "g.38169900del" "" "{PMID:Sharon 2003:14564670}" "" "806delC" "" "Germline" "" "" "0" "" "" "g.38310647del" "" "pathogenic" "" "0000714392" "20" "90" "X" "38164044" "38164044" "subst" "0" "00000" "RPGR_000432" "g.38164044C>T" "" "{PMID:Sharon 2003:14564670}" "" "IVS7-1G>A" "" "Germline" "" "" "0" "" "" "g.38304791C>T" "" "pathogenic" "" "0000714393" "20" "90" "X" "38163988" "38163988" "del" "0" "00000" "RPGR_000430" "g.38163988del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "896delT" "" "Germline" "" "" "0" "" "" "g.38304735del" "" "pathogenic" "" "0000714394" "20" "90" "X" "38163985" "38163989" "del" "0" "00000" "RPGR_000429" "g.38163985_38163989del" "" "{PMID:Sharon 2003:14564670}" "" "897_901del5" "" "Germline" "" "" "0" "" "" "g.38304732_38304736del" "" "pathogenic" "" "0000714395" "20" "90" "X" "38163953" "38163953" "del" "0" "00000" "RPGR_000276" "g.38163953del" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "928delA" "" "Germline" "" "" "0" "" "" "g.38304700del" "" "pathogenic" "" "0000714396" "20" "90" "X" "38163917" "38163917" "subst" "0" "00000" "RPGR_000099" "g.38163917C>T" "" "{PMID:Sharon 2000:10937588}, {PMID:Sharon 2003:14564670}" "" "964G>A" "" "Germline" "" "" "0" "" "" "g.38304664C>T" "" "pathogenic" "" "0000714397" "20" "90" "X" "38163888" "38163888" "subst" "0" "00000" "RPGR_000426" "g.38163888C>T" "" "{PMID:Sharon 2003:14564670}" "" "993G>A" "" "Germline" "" "" "0" "" "" "g.38304635C>T" "" "pathogenic" "" "0000714398" "20" "90" "X" "38163888" "38163888" "subst" "0" "00000" "RPGR_000427" "g.38163888C>A" "" "{PMID:Sharon 2003:14564670}" "" "993G>T" "" "Germline" "" "" "0" "" "" "g.38304635C>A" "" "pathogenic" "" "0000714399" "20" "90" "X" "38160601" "38160601" "subst" "0" "00000" "RPGR_000425" "g.38160601C>T" "" "{PMID:Sharon 2003:14564670}" "" "1017G>A" "" "Germline" "" "" "0" "" "" "g.38301348C>T" "" "pathogenic" "" "0000714400" "20" "90" "X" "38160579" "38160579" "subst" "0" "00000" "RPGR_000424" "g.38160579A>C" "" "{PMID:Sharon 2003:14564670}" "" "1039T>G" "" "Germline" "" "" "0" "" "" "g.38301326A>C" "" "pathogenic" "" "0000714401" "20" "90" "X" "38163999" "38163999" "subst" "0" "00000" "RPGR_000172" "g.38163999C>T" "" "Sharon 2005, ARVO Vis Sci 46:E1819" "" "882G>A" "" "Germline" "" "" "0" "" "" "g.38304746C>T" "" "pathogenic" "" "0000714402" "20" "90" "X" "38145810" "38145824" "del" "0" "00000" "RPGR_000036" "g.38145810_38145824del" "" "{PMID:Yang 2002:11875055}" "" "g.ORF15+694_708del15 (p.ORF15+N231_P235del)" "" "Germline" "" "" "0" "" "" "g.38286557_38286571del" "" "pathogenic" "" "0000714403" "20" "90" "X" "38145159" "38145159" "del" "0" "00000" "RPGR_000200" "g.38145159del" "" "{PMID:Yang 2002:11875055}" "" "g.ORF15+1343_1344delGG" "" "Germline" "" "" "0" "" "" "g.38285906del" "" "pathogenic" "" "0000714404" "20" "10" "X" "38145750" "38145750" "dup" "0" "00000" "RPGR_000366" "g.38145750dup" "" "{PMID:Yokoyama 2001:11754050}" "" "g.ORF15+753_754insG (p.ORF15+E251fs)" "" "Germline" "" "" "0" "" "" "g.38286497dup" "" "benign" "" "0000714405" "20" "10" "X" "38145667" "38145668" "del" "0" "00000" "RPGR_000357" "g.38145667_38145668del" "" "{PMID:Yokoyama 2001:11754050}" "" "g.ORF15+833_834delGG (p.ORF15G277fs)" "" "Germline" "" "" "0" "" "" "g.38286414_38286415del" "" "benign" "" "0000714406" "20" "10" "X" "38145640" "38145641" "dup" "0" "00000" "RPGR_000353" "g.38145640_38145641dup" "" "{PMID:Yokoyama 2001:11754050}" "" "g.ORF15+861_862insGG (p.ORF15+E287fs)" "" "Germline" "" "" "0" "" "" "g.38286387_38286388dup" "" "benign" "" "0000714407" "21" "10" "X" "38145810" "38145824" "del" "0" "00000" "RPGR_000036" "g.38145810_38145824del" "2/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+694_708del15 (p.ORF15+N231_P235del)" "" "Germline" "" "" "0" "" "" "g.38286557_38286571del" "" "benign" "" "0000714408" "21" "10" "X" "38145810" "38145824" "del" "0" "00000" "RPGR_000036" "g.38145810_38145824del" "2/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+694_708del15 (p.ORF15+N231_P235del)" "" "Germline" "" "" "0" "" "" "g.38286557_38286571del" "" "benign" "" "0000714409" "21" "10" "X" "38145633" "38145647" "del" "0" "00000" "RPGR_000222" "g.38145633_38145647del" "2/100 control chromosomes" "{PMID:Bader 2003:12657579}" "" "g.ORF15+853_867del15 (p.ORF15+E284-E288del)" "" "Germline" "" "" "0" "" "" "g.38286380_38286394del" "" "benign" "" "0000714410" "21" "10" "X" "38145190" "38145201" "del" "0" "00000" "RPGR_000202" "g.38145190_38145201del" "" "{PMID:Demirci 2002:11857109}" "" "g.ORF15+1307_1318del12 (p.ORF15+436-439del)" "" "Germline" "" "" "0" "" "" "g.38285937_38285948del" "" "benign" "" "0000714411" "21" "10" "X" "38160526" "38160526" "subst" "0.00703357" "00000" "RPGR_000046" "g.38160526T>C" "" "{PMID:Demirci 2002:11857109}" "" "A1092G" "" "Germline" "" "" "0" "" "" "g.38301273T>C" "" "benign" "" "0000714412" "21" "10" "X" "38160526" "38160526" "subst" "0.00703357" "00000" "RPGR_000046" "g.38160526T>C" "" "{PMID:Demirci 2002:11857109}" "" "A1092G" "" "Germline" "" "" "0" "" "" "g.38301273T>C" "" "benign" "" "0000714413" "21" "10" "X" "38145330" "38145350" "dup" "0" "00000" "RPGR_000033" "g.38145330_38145350dup" "" "{PMID:Rozet 2002:11950860}" "" "g.ORF15+1150_1170dup21 (p.ORF15+E383ins7aa)" "" "Germline" "" "" "0" "" "" "g.38286077_38286097dup" "" "benign" "" "0000728859" "0" "90" "X" "38144941" "38144941" "dup" "0" "01943" "RPGR_000154" "g.38144941dup" "" "" "" "RPGR(NM_001034853.1):c.3317dupA (p.S1107Vfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728860" "0" "70" "X" "38146460" "38146460" "subst" "0" "02330" "RPGR_000460" "g.38146460C>A" "" "" "" "RPGR(NM_001034853.2):c.1792G>T (p.G598*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728861" "0" "50" "X" "38147171" "38147171" "subst" "0" "02330" "RPGR_000461" "g.38147171C>G" "" "" "" "RPGR(NM_001034853.2):c.1696G>C (p.G566R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728862" "0" "30" "X" "38150284" "38150284" "subst" "0" "02327" "RPGR_000462" "g.38150284T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729747" "3" "90" "X" "38145158" "38145159" "del" "0" "00000" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Maeda 2018:29785639}" "" "c.3096_3097delGG" "" "Germline" "" "rs606231180" "0" "" "" "g.38285905_38285906del" "" "pathogenic" "" "0000729748" "3" "70" "X" "38176597" "38176597" "subst" "0" "00000" "RPGR_000463" "g.38176597A>C" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "" "0" "" "" "g.38317344A>C" "" "likely pathogenic" "" "0000729765" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Maeda 2018:29785639}" "" "c.2405_2406delAG" "" "Germline" "" "rs398122960" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000729797" "20" "90" "X" "38145111" "38145112" "dup" "0" "00000" "RPGR_000459" "g.38145111_38145112dup" "" "{PMID:Wawrocka 2018:29769798}" "" "2389dupG" "" "Germline" "" "" "0" "" "" "g.38285858_38285859dup" "" "pathogenic (recessive)" "" "0000729798" "20" "90" "X" "38145536" "38145536" "subst" "0" "00000" "RPGR_000343" "g.38145536C>A" "" "{PMID:Wawrocka 2018:29769798}" "" "" "" "Germline" "" "" "0" "" "" "g.38286283C>A" "" "pathogenic (recessive)" "" "0000730694" "20" "90" "X" "38144794" "38144794" "subst" "0" "00000" "RPGR_000458" "g.38144794T>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.38285541T>G" "" "pathogenic" "" "0000731583" "3" "90" "X" "38145172" "38145173" "del" "0" "01807" "RPGR_000464" "g.38145172_38145173del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.38285919_38285920del" "" "pathogenic" "" "0000732438" "20" "90" "X" "38163917" "38163917" "subst" "0.000901058" "00000" "RPGR_000134" "g.38163917C>G" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.38304664C>G" "" "pathogenic" "" "0000732439" "20" "90" "X" "38158216" "38158217" "del" "0" "00000" "RPGR_000261" "g.38158216_38158217del" "" "{PMID:Costa 2017:28912962}" "" "1243_1244delAG" "" "Germline" "" "" "0" "" "" "g.38298963_38298964del" "" "pathogenic" "" "0000732551" "0" "90" "X" "38158365" "38158366" "delins" "0" "00000" "RPGR_000472" "g.38158365_38158366delinsT" "" "{PMID:Wang 2017:28838317}" "" "NM_000328.2 :c.1088_1089delinsA (V363Dfs*18)" "" "Germline" "" "" "0" "" "" "g.38299112_38299113delinsT" "" "pathogenic" "" "0000732569" "0" "90" "X" "38182156" "38182156" "subst" "0" "00000" "RPGR_000479" "g.38182156T>C" "" "{PMID:Wang 2017:28838317}" "" "NM_000328.2 :c.197A>G (Gln66Arg)" "" "Germline" "" "" "0" "" "" "g.38322903T>C" "" "pathogenic" "" "0000732617" "0" "90" "X" "38158365" "38158366" "delins" "0" "00000" "RPGR_000472" "g.38158365_38158366delinsT" "" "{PMID:Wang 2017:28838317}" "" "NM_000328.2 :c.1088_1089delinsA (V363Dfs*18)" "" "Germline" "" "" "0" "" "" "g.38299112_38299113delinsT" "" "pathogenic" "" "0000732620" "0" "90" "X" "38182156" "38182156" "subst" "0" "00000" "RPGR_000479" "g.38182156T>C" "" "{PMID:Wang 2017:28838317}" "" "NM_000328.2:c.197A>G (Gln66Arg)" "" "Germline" "" "" "0" "" "" "g.38322903T>C" "" "pathogenic" "" "0000732678" "0" "70" "X" "38150209" "38150209" "subst" "0" "00000" "RPGR_000471" "g.38150209T>A" "" "{PMID:Soens 2017:28714225}" "" "NM_000328.2:c.1572+3A>T" "r.[(ins,ins,ins)] effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.38290956T>A" "" "likely pathogenic" "" "0000732757" "0" "70" "X" "38145574" "38145575" "del" "0" "00000" "RPGR_000348" "g.38145574_38145575del" "" "{PMID:Stone 2017:28559085}" "" "2677_2678delGG" "" "Germline" "" "" "0" "" "" "g.38286321_38286322del" "" "likely pathogenic" "" "0000732758" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Stone 2017:28559085}" "" "2403_2404delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000732759" "0" "70" "X" "38145312" "38145312" "del" "0" "00000" "RPGR_000330" "g.38145312del" "" "{PMID:Stone 2017:28559085}" "" "2940delG" "" "Germline" "" "" "0" "" "" "g.38286059del" "" "likely pathogenic" "" "0000732760" "0" "70" "X" "38146076" "38146076" "subst" "0" "00000" "RPGR_000390" "g.38146076C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38286823C>A" "" "likely pathogenic" "" "0000732768" "0" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Stone 2017:28559085}" "" "3092delA" "" "Germline" "" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000732769" "0" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Stone 2017:28559085}" "" "3092delA" "" "Germline" "" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000732770" "0" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Stone 2017:28559085}" "" "3092delA" "" "Germline" "" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000732771" "0" "70" "X" "38145574" "38145575" "del" "0" "00000" "RPGR_000348" "g.38145574_38145575del" "" "{PMID:Stone 2017:28559085}" "" "2677_2678delGG" "" "Germline" "" "" "0" "" "" "g.38286321_38286322del" "" "likely pathogenic" "" "0000732772" "0" "70" "X" "38145574" "38145575" "del" "0" "00000" "RPGR_000348" "g.38145574_38145575del" "" "{PMID:Stone 2017:28559085}" "" "2677_2678delGG" "" "Germline" "" "" "0" "" "" "g.38286321_38286322del" "" "likely pathogenic" "" "0000732773" "0" "70" "X" "38145463" "38145464" "del" "0" "00000" "RPGR_000162" "g.38145463_38145464del" "" "{PMID:Stone 2017:28559085}" "" "2788_2789delGG" "" "Germline" "" "" "0" "" "" "g.38286210_38286211del" "" "likely pathogenic" "" "0000732774" "0" "70" "X" "38145463" "38145464" "del" "0" "00000" "RPGR_000162" "g.38145463_38145464del" "" "{PMID:Stone 2017:28559085}" "" "2788_2789delGG" "" "Germline" "" "" "0" "" "" "g.38286210_38286211del" "" "likely pathogenic" "" "0000732775" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Stone 2017:28559085}" "" "2403_2404delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000732776" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Stone 2017:28559085}" "" "2403_2404delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000732777" "0" "70" "X" "38145162" "38145163" "del" "0" "00000" "RPGR_000322" "g.38145162_38145163del" "" "{PMID:Stone 2017:28559085}" "" "3089_3090delGA" "" "Germline" "" "" "0" "" "" "g.38285909_38285910del" "" "likely pathogenic" "" "0000732778" "0" "70" "X" "38145833" "38145833" "subst" "0" "00000" "RPGR_000470" "g.38145833C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38286580C>A" "" "likely pathogenic" "" "0000732779" "0" "70" "X" "38145385" "38145385" "del" "0" "00000" "RPGR_000468" "g.38145385del" "" "{PMID:Stone 2017:28559085}" "" "2867delA" "" "Germline" "" "" "0" "" "" "g.38286132del" "" "likely pathogenic" "" "0000732780" "0" "70" "X" "38145625" "38145626" "del" "0" "00000" "RPGR_000220" "g.38145625_38145626del" "" "{PMID:Stone 2017:28559085}" "" "2626_2627delGG" "" "Germline" "" "" "0" "" "" "g.38286372_38286373del" "" "likely pathogenic" "" "0000732781" "0" "70" "X" "38145437" "38145437" "del" "0" "00000" "RPGR_000469" "g.38145437del" "" "{PMID:Stone 2017:28559085}" "" "2815delG" "" "Germline" "" "" "0" "" "" "g.38286184del" "" "likely pathogenic" "" "0000732782" "0" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Stone 2017:28559085}" "" "2424_2425delAG" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000732783" "0" "70" "X" "38182174" "38182174" "subst" "0" "00000" "RPGR_000055" "g.38182174C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38322921C>A" "" "likely pathogenic" "" "0000732784" "0" "70" "X" "38182174" "38182174" "subst" "0" "00000" "RPGR_000055" "g.38182174C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38322921C>A" "" "likely pathogenic" "" "0000732785" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Stone 2017:28559085}" "" "2233_2234delAG" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000732786" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Stone 2017:28559085}" "" "2233_2234delAG" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000732787" "0" "70" "X" "38146076" "38146076" "subst" "0" "00000" "RPGR_000390" "g.38146076C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38286823C>A" "" "likely pathogenic" "" "0000732788" "0" "70" "X" "38146229" "38146229" "subst" "0" "00000" "RPGR_000167" "g.38146229C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38286976C>A" "" "likely pathogenic" "" "0000732789" "0" "70" "X" "38145959" "38145959" "subst" "0" "00000" "RPGR_000381" "g.38145959C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38286706C>A" "" "likely pathogenic" "" "0000732790" "0" "70" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38323399C>T" "" "likely pathogenic" "" "0000732791" "0" "70" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Stone 2017:28559085}" "" "2253_2256delGGAG" "" "Germline" "" "" "0" "" "" "g.38286743_38286746del" "" "likely pathogenic" "" "0000732792" "0" "70" "X" "38182180" "38182180" "subst" "0" "00000" "RPGR_000480" "g.38182180A>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38322927A>T" "" "likely pathogenic" "" "0000732793" "0" "70" "X" "38178180" "38178180" "del" "0" "00000" "RPGR_000299" "g.38178180del" "" "{PMID:Stone 2017:28559085}" "" "371delC" "" "Germline" "" "" "0" "" "" "g.38318927del" "" "likely pathogenic" "" "0000732794" "0" "70" "X" "38178085" "38178085" "subst" "0" "00000" "RPGR_000476" "g.38178085T>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38318832T>G" "" "likely pathogenic" "" "0000732795" "0" "70" "X" "38182713" "38182713" "subst" "0" "00000" "RPGR_000481" "g.38182713C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38323460C>T" "" "likely pathogenic" "" "0000732796" "0" "70" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Stone 2017:28559085}" "" "1376_1377delTC" "" "Germline" "" "" "0" "" "" "g.38297321_38297322del" "" "likely pathogenic" "" "0000732797" "0" "70" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Stone 2017:28559085}" "" "2442_2445delAGAG" "" "Germline" "" "" "0" "" "" "g.38286554_38286557del" "" "likely pathogenic" "" "0000732814" "0" "70" "X" "38176666" "38176666" "del" "0" "00000" "RPGR_000474" "g.38176666del" "" "{PMID:Stone 2017:28559085}" "" "522delA" "" "Germline" "" "" "0" "" "" "g.38317413del" "" "likely pathogenic" "" "0000732815" "0" "70" "X" "38150217" "38150217" "subst" "0" "00000" "RPGR_000092" "g.38150217G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38290964G>A" "" "likely pathogenic" "" "0000732845" "0" "70" "X" "38182174" "38182174" "subst" "0" "00000" "RPGR_000055" "g.38182174C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38322921C>A" "" "likely pathogenic" "" "0000732846" "0" "70" "X" "38145574" "38145575" "del" "0" "00000" "RPGR_000348" "g.38145574_38145575del" "" "{PMID:Stone 2017:28559085}" "" "2677_2678delGG" "" "Germline" "" "" "0" "" "" "g.38286321_38286322del" "" "likely pathogenic" "" "0000732847" "0" "70" "X" "38176687" "38176687" "subst" "0" "00000" "RPGR_000475" "g.38176687A>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38317434A>T" "" "likely pathogenic" "" "0000732848" "0" "70" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Stone 2017:28559085}" "" "2319_2320delAG" "" "Germline" "" "" "0" "" "" "g.38286680_38286681del" "" "likely pathogenic" "" "0000732852" "0" "70" "X" "38144973" "38144974" "del" "0" "00000" "RPGR_000466" "g.38144973_38144974del" "" "{PMID:Stone 2017:28559085}" "" "3278_3279delGA" "" "Germline" "" "" "0" "" "" "g.38285720_38285721del" "" "likely pathogenic" "" "0000732853" "0" "70" "X" "38145158" "38145159" "del" "0" "00000" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Stone 2017:28559085}" "" "3093_3094delGG" "" "Germline" "" "" "0" "" "" "g.38285905_38285906del" "" "likely pathogenic" "" "0000732854" "0" "70" "X" "38145158" "38145159" "del" "0" "00000" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Stone 2017:28559085}" "" "3093_3094delGG" "" "Germline" "" "" "0" "" "" "g.38285905_38285906del" "" "likely pathogenic" "" "0000732855" "0" "70" "X" "38145076" "38145077" "del" "0" "00000" "RPGR_000199" "g.38145076_38145077del" "" "{PMID:Stone 2017:28559085}" "" "3175_3176delAG" "" "Germline" "" "" "0" "" "" "g.38285823_38285824del" "" "likely pathogenic" "" "0000732856" "0" "70" "X" "38145092" "38145092" "subst" "0" "00000" "RPGR_000467" "g.38145092C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.38285839C>A" "" "likely pathogenic" "" "0000732857" "0" "70" "X" "38144941" "38144941" "del" "0" "00000" "RPGR_000465" "g.38144941del" "" "{PMID:Stone 2017:28559085}" "" "3311delA" "" "Germline" "" "" "0" "" "" "g.38285688del" "" "likely pathogenic" "" "0000733091" "0" "70" "X" "38164016" "38164016" "subst" "0" "00000" "RPGR_000473" "g.38164016C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "De novo" "" "" "0" "" "" "g.38304763C>T" "" "likely pathogenic" "" "0000733092" "0" "70" "X" "38178174" "38178177" "del" "0" "00000" "RPGR_000477" "g.38178174_38178177del" "" "{PMID:Stone 2017:28559085}" "" "374_377delAAGA" "" "De novo" "" "" "0" "" "" "g.38318921_38318924del" "" "likely pathogenic" "" "0000734360" "0" "70" "X" "38180306" "38180306" "subst" "0" "00000" "RPGR_000478" "g.38180306C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.38321053C>T" "" "likely pathogenic" "" "0000734361" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Huang 2017:28512305}" "" "2236_2237delCT (Glu746Argfs*23)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000734362" "0" "70" "X" "38150676" "38150676" "del" "0" "00000" "RPGR_000250" "g.38150676del" "" "{PMID:Huang 2017:28512305}" "" "1477delC" "" "Germline" "" "" "0" "" "" "g.38291423del" "" "likely pathogenic" "" "0000734709" "0" "90" "X" "38180307" "38180307" "subst" "0" "00000" "RPGR_000490" "g.38180307C>T" "" "{PMID:Vincent 2017:28488341}" "" "" "" "Germline" "" "" "0" "" "" "g.38321054C>T" "" "pathogenic" "" "0000734715" "0" "50" "X" "38145523" "38145523" "subst" "0" "00000" "RPGR_000482" "g.38145523C>T" "" "{PMID:Vincent 2017:28488341}" "" "" "" "Germline" "" "" "0" "" "" "g.38286270C>T" "" "VUS" "" "0000735664" "0" "90" "X" "38147198" "38147198" "del" "0" "00000" "RPGR_000483" "g.38147198del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.38287945del" "" "pathogenic" "" "0000735665" "0" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000735666" "0" "90" "X" "38145868" "38145868" "del" "0" "00000" "RPGR_000063" "g.38145868del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.38286615del" "" "pathogenic" "" "0000735667" "0" "90" "X" "38180356" "38180374" "del" "0" "00000" "RPGR_000072" "g.38180356_38180374del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38321103_38321121del" "" "pathogenic" "" "0000735668" "0" "90" "X" "38145305" "38145305" "subst" "0" "00000" "RPGR_000062" "g.38145305C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.38286052C>A" "" "pathogenic" "" "0000735669" "0" "90" "X" "38145257" "38145260" "del" "0" "00000" "RPGR_000061" "g.38145257_38145260del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38286004_38286007del" "" "pathogenic" "" "0000735670" "0" "90" "X" "38178128" "38178128" "del" "0" "00000" "RPGR_000070" "g.38178128del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.38318875del" "" "pathogenic" "" "0000735671" "0" "90" "X" "38176705" "38176706" "del" "0" "00000" "RPGR_000069" "g.38176705_38176706del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.38317452_38317453del" "" "pathogenic" "" "0000735857" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Riera 2017:28181551}" "" "2235_2236del" "" "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000735941" "0" "70" "X" "38169907" "38169907" "subst" "0" "02485" "RPGR_000487" "g.38169907G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38310654G>A" "" "likely pathogenic" "" "0000735942" "0" "70" "X" "38163933" "38163934" "del" "0" "02485" "RPGR_000484" "g.38163933_38163934del" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.888_889delAA" "" "Germline" "" "" "0" "" "" "g.38304680_38304681del" "" "likely pathogenic" "" "0000735943" "0" "70" "X" "38145996" "38145999" "del" "0" "02485" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38286743_38286746del" "" "likely pathogenic" "" "0000735949" "0" "70" "X" "38176568" "38176568" "subst" "0" "02485" "RPGR_000488" "g.38176568C>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38317315C>A" "" "likely pathogenic" "" "0000735965" "2" "70" "X" "38178203" "38178205" "del" "0" "02485" "RPGR_000489" "g.38178203_38178205del" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.347_349delAAG" "" "Germline" "" "" "0" "" "" "g.38318950_38318952del" "" "likely pathogenic" "" "0000736097" "0" "70" "X" "38164007" "38164007" "subst" "0" "00000" "RPGR_000485" "g.38164007C>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.38304754C>A" "" "likely pathogenic" "" "0000736103" "0" "70" "X" "38182104" "38182104" "subst" "0" "00000" "RPGR_000491" "g.38182104A>G" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.38322851A>G" "" "likely pathogenic" "" "0000736218" "1" "90" "X" "38164037" "38164037" "subst" "0.00118194" "00000" "RPGR_000047" "g.38164037G>C" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.38304784G>C" "" "pathogenic" "" "0000736219" "1" "90" "X" "38164008" "38164008" "subst" "0" "00000" "RPGR_000486" "g.38164008C>A" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.38304755C>A" "" "pathogenic" "" "0000736220" "1" "90" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.38323399C>T" "" "pathogenic" "" "0000736221" "1" "90" "X" "38182718" "38182718" "del" "0" "00000" "RPGR_000492" "g.38182718del" "" "{PMID:Bernardis 2016:28127548}" "" "c.89delT" "" "De novo" "" "" "0" "" "" "g.38323465del" "" "pathogenic" "" "0000736484" "1" "90" "X" "0" "0" "" "0" "00008" "USP9X_000005" "g.?" "" "{PMID:Sullivan 2006:16799052}" "" "ORF15+558del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736485" "1" "90" "X" "0" "0" "" "0" "00008" "USP9X_000005" "g.?" "" "{PMID:Sullivan 2006:16799052}" "" "ORF15+764_765del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000759602" "1" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Carrigan 2016:27624628}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000759603" "1" "90" "X" "38180295" "38180295" "subst" "0" "00000" "RPGR_000494" "g.38180295T>C" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.38321042T>C" "" "pathogenic" "" "0000759604" "1" "90" "X" "38146324" "38146324" "subst" "0" "00000" "RPGR_000237" "g.38146324G>C" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.38287071G>C" "" "pathogenic" "" "0000759605" "1" "90" "X" "38146245" "38146245" "subst" "0" "00000" "RPGR_000396" "g.38146245C>T" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.38286992C>T" "" "pathogenic" "" "0000759664" "21" "90" "X" "38145919" "38145919" "del" "0" "00000" "RPGR_000493" "g.38145919del" "" "{PMID:Zhang 2016:27596865}" "" "c.2333delA" "" "Germline" "" "" "0" "" "" "g.38286666del" "" "pathogenic" "ACMG" "0000759667" "0" "70" "X" "38176694" "38176694" "subst" "0" "00000" "RPGR_000174" "g.38176694C>T" "" "{PMID:Zhang 2016:27596865}" "" "c.G494A" "" "Germline" "" "" "0" "" "" "g.38317441C>T" "" "likely pathogenic" "ACMG" "0000759926" "1" "90" "X" "38146111" "38146112" "dup" "0" "00000" "RPGR_000496" "g.38146111_38146112dup" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.38286858_38286859dup" "" "pathogenic (recessive)" "" "0000759927" "1" "90" "X" "38146237" "38146246" "del" "0" "00000" "RPGR_000497" "g.38146237_38146246del" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.38286984_38286993del" "" "pathogenic (recessive)" "" "0000759928" "1" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic (recessive)" "" "0000760172" "0" "70" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.38298967G>A" "" "likely pathogenic" "" "0000760255" "0" "70" "X" "38158216" "38158217" "del" "0" "00000" "RPGR_000261" "g.38158216_38158217del" "" "{PMID:Ellingford 2016:27208204}" "" "1243_1244delAG" "" "Germline" "" "" "0" "" "" "g.38298963_38298964del" "" "likely pathogenic" "" "0000760270" "0" "50" "X" "38164014" "38164014" "subst" "0" "00000" "RPGR_000500" "g.38164014G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.38304761G>A" "" "VUS" "" "0000760299" "0" "50" "X" "38163914" "38163914" "subst" "0" "00000" "RPGR_000499" "g.38163914C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.38304661C>T" "" "VUS" "" "0000760319" "0" "70" "X" "38176607" "38176607" "subst" "0" "00000" "RPGR_000292" "g.38176607C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.38317354C>T" "" "likely pathogenic" "" "0000760328" "0" "50" "X" "38150212" "38150212" "del" "0" "00000" "RPGR_000498" "g.38150212del" "" "{PMID:Ellingford 2016:27208204}" "" "1572+1delG" "" "Germline" "" "" "0" "" "" "g.38290959del" "" "VUS" "" "0000760350" "0" "70" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.38323399C>T" "" "likely pathogenic" "" "0000760647" "20" "90" "X" "38145084" "38145084" "subst" "0" "00000" "RPGR_000495" "g.38145084C>G" "" "{PMID:Bravo-Gil 2016:27032803}" "" "" "" "Germline" "" "" "0" "" "" "g.38285831C>G" "" "pathogenic" "" "0000760652" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Bravo-Gil 2016:27032803}" "" "2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000764532" "1" "90" "X" "38178223" "38178228" "del" "0" "00008" "RPGR_000522" "g.38178223_38178228delCATATA" "" "{PMID:Pelletier 2007:16969763}" "" "c.323_328delTATATG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764533" "1" "90" "X" "38169892" "38169893" "del" "0" "00008" "RPGR_000520" "g.38169892_38169893delCA" "" "{PMID:Pelletier 2007:16969763}" "" "c.753_754delTG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764534" "1" "90" "X" "38158279" "38158279" "del" "0" "00008" "RPGR_000517" "g.38158279delG" "" "{PMID:Pelletier 2007:16969763}" "" "c.1175delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764535" "1" "90" "X" "38158237" "38158238" "del" "0" "00008" "RPGR_000516" "g.38158237_38158238delAG" "" "{PMID:Pelletier 2007:16969763}" "" "c.1216_1217delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764536" "1" "90" "X" "38147181" "38147182" "del" "0" "00008" "RPGR_000513" "g.38147181_38147182delAT" "" "{PMID:Pelletier 2007:16969763}" "" "c.1685_1686delAT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764537" "1" "90" "X" "38182684" "38182684" "subst" "0" "00008" "RPGR_000456" "g.38182684G>C" "" "{PMID:Pelletier 2007:16969763}" "" "c.122C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764538" "1" "90" "X" "38180277" "38180277" "subst" "0" "00008" "RPGR_000301" "g.38180277T>C" "" "{PMID:Pelletier 2007:16969763}" "" "c.310+3A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764539" "1" "90" "X" "38156707" "38156707" "subst" "0" "00008" "RPGR_000514" "g.38156707T>G" "" "{PMID:Pelletier 2007:16969763}" "" "c.1246-2A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764540" "1" "90" "X" "38182159" "38182159" "subst" "0" "00008" "RPGR_000523" "g.38182159C>A" "" "{PMID:Pelletier 2007:16969763}" "" "c.194G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764541" "1" "90" "X" "38176605" "38176605" "subst" "0" "00008" "RPGR_000521" "g.38176605T>C" "" "{PMID:Pelletier 2007:16969763}" "" "c.583A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764542" "1" "90" "X" "38164022" "38164022" "subst" "0" "00008" "RPGR_000519" "g.38164022C>T" "" "{PMID:Pelletier 2007:16969763}" "" "c.800G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764543" "1" "90" "X" "38164008" "38164008" "subst" "0" "00008" "RPGR_000518" "g.38164008C>T" "" "{PMID:Pelletier 2007:16969763}" "" "c.814G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764544" "1" "90" "X" "38163999" "38163999" "subst" "0" "00008" "RPGR_000172" "g.38163999C>T" "" "{PMID:Pelletier 2007:16969763}" "" "c.823A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764545" "1" "90" "X" "38182652" "38182652" "subst" "0" "00008" "RPGR_000103" "g.38182652C>T" "" "{PMID:Pelletier 2007:16969763}" "" "c.154G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764546" "1" "90" "X" "38146063" "38146063" "del" "0" "00008" "RPGR_000388" "g.38146063delC" "" "{PMID:Pelletier 2007:16969763}" "" "c.2189delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764547" "1" "90" "X" "38146015" "38146016" "del" "0" "00008" "RPGR_000064" "g.38146015_38146016delTC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1483_484delGA (p.Glu161ArgfsX23)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764548" "1" "90" "X" "38146015" "38146016" "del" "0" "00008" "RPGR_000064" "g.38146015_38146016delTC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1483_484delGA (p.Glu161ArgfsX23)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764549" "1" "90" "X" "38146010" "38146011" "del" "0" "00008" "RPGR_000512" "g.38146010_38146011delCC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1488_489delGG (p.Glu163ArgfsX21)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764550" "1" "90" "X" "38145981" "38145982" "del" "0" "00008" "RPGR_000382" "g.38145981_38145982delCT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1517_518delAG (p.Glu172GlyfsX12)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764551" "1" "90" "X" "38145846" "38145849" "del" "0" "00008" "RPGR_000375" "g.38145846_38145849delCTCT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1650_653delAGAG (p.Glu217GlyfsX12)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764552" "1" "90" "X" "38145846" "38145849" "del" "0" "00008" "RPGR_000375" "g.38145846_38145849delCTCT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1650_653delAGAG (p.Glu217GlyfsX12)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764553" "1" "90" "X" "38145846" "38145847" "del" "0" "00008" "RPGR_000078" "g.38145846_38145847delCT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1652_653delAG (p.Glu217GlyfsX32)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764554" "1" "90" "X" "38145846" "38145847" "del" "0" "00008" "RPGR_000078" "g.38145846_38145847delCT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1652_653delAG (p.Glu217GlyfsX32)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764555" "1" "90" "X" "38145846" "38145847" "del" "0" "00008" "RPGR_000078" "g.38145846_38145847delCT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1652_653delAG (p.Glu217GlyfsX32)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764556" "1" "90" "X" "38145784" "38145788" "del" "0" "00008" "RPGR_000510" "g.38145784_38145788del" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1711_715delGGGAA (p.Gly237_Lys238delinsArgfsX11)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764557" "1" "90" "X" "38145766" "38145779" "del" "0" "00008" "RPGR_000509" "g.38145766_38145779delTCCTCTTCCCTCTC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1720_733delGAGAGGGAAGAGGA (p.Glu240_Glu244delinsArgfsX5)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764558" "1" "90" "X" "38145746" "38145746" "del" "0" "00008" "RPGR_000228" "g.38145746delC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1753delG (p.Glu251LysfsX253)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764559" "1" "90" "X" "38145460" "38145460" "del" "0" "00008" "RPGR_000506" "g.38145460delT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11039delA (p.Glu346GlyfsX158)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764560" "1" "90" "X" "38145413" "38145414" "del" "0" "00008" "RPGR_000505" "g.38145413_38145414delCC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11085_1086delGG (p.Glu362GlyfsX131)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764561" "1" "90" "X" "38145408" "38145412" "del" "0" "00008" "RPGR_000338" "g.38145408_38145412delCCCCT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11087_1091delAGGGG (p.Glu362GlyfsX130)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764562" "1" "90" "X" "38145412" "38145412" "del" "0" "00008" "RPGR_000504" "g.38145412delT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11087delA (p.Glu362GlyfsX142)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764563" "1" "90" "X" "38145385" "38145385" "del" "0" "00008" "RPGR_000468" "g.38145385delT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11114delA (p.Glu371GlyfsX133)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764564" "1" "90" "X" "38145242" "38145245" "del" "0" "00008" "RPGR_000324" "g.38145242_38145245delCTCC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11254_1257delGGAG (p.Gly418_Glu419delinsArgfsX85)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764565" "1" "90" "X" "38145224" "38145225" "del" "0" "00008" "RPGR_000323" "g.38145224_38145225delCC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11274_1275delGG (p.Glu425GlyfsX68)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764566" "1" "90" "X" "38144857" "38144858" "del" "0" "00008" "RPGR_000501" "g.38144857_38144858delTT" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11641_1642delAA (p.Asn547ArgfsX11)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764567" "1" "90" "X" "38145750" "38145750" "dup" "0" "00008" "RPGR_000366" "g.38145750dup" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 [753dupG;954_1004dup51] (Glu251GlyfsX26)" "" "Germline" "" "" "0" "" "" "g.38286497dup" "" "pathogenic" "" "0000764568" "1" "90" "X" "38145567" "38145617" "dup" "0" "00008" "RPGR_000507" "g.38145567_38145617dup" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 [753dupG;954_1004dup51] (Glu251GlyfsX26)" "variant after upstream frame shifting variant" "Germline" "" "" "0" "" "" "g.38286314_38286364dup" "" "VUS (!)" "" "0000764569" "1" "90" "X" "38145617" "38145617" "dup" "0" "00008" "RPGR_000508" "g.38145617dupC" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1882dupG (p.Glu294GlyfsX200)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764570" "1" "90" "X" "38145314" "38145333" "dup" "0" "00008" "RPGR_000502" "g.38145314_38145333dup" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1[1171_1190dup20;1256_1285del30] (p.Glu397ArgfsX104)" "" "Germline" "" "" "0" "" "" "g.38286061_38286080dup" "" "pathogenic" "" "0000764571" "1" "50" "X" "38145214" "38145243" "del" "0" "00008" "RPGR_000503" "g.38145214_38145243del" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1[1171_1190dup20;1256_1285del30] (p.Glu397ArgfsX104)" "variant after frame shifting duplication" "Germline" "" "" "0" "" "" "" "" "VUS (!)" "" "0000764572" "1" "90" "X" "38145320" "38145321" "ins" "0" "00008" "RPGR_000763" "g.38145320_38145321ins[38145321_38145344;CCTTT]" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1178_1179ins[AAAGG+1155_1178dup24] (p.Glu393LysfsX121)" "" "Germline" "" "" "0" "" "" "g.38286067_38286068ins[38286068_38286091;CCTTT]" "" "pathogenic" "" "0000764573" "1" "90" "X" "38146034" "38146034" "subst" "0" "00008" "RPGR_000386" "g.38146034C>A" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1465G4T (p.Glu155X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764574" "1" "90" "X" "38145947" "38145947" "subst" "0" "00008" "RPGR_000511" "g.38145947C>T" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1552G4A (p.Glu184X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764575" "1" "90" "X" "38145785" "38145785" "subst" "0" "00008" "RPGR_000223" "g.38145785T>A" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1714A4T (p.Lys238X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764576" "1" "90" "X" "38145695" "38145695" "subst" "0" "00008" "RPGR_000223" "g.38145695C>A" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1741G4T (p.Glu247X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764577" "1" "90" "X" "38145569" "38145569" "subst" "0" "00008" "RPGR_000347" "g.38145569C>A" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1804G4T (p.Glu268X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764578" "1" "90" "X" "38145569" "38145569" "subst" "0" "00008" "RPGR_000347" "g.38145569C>A" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1804G4T (p.Glu268X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764579" "1" "90" "X" "38145440" "38145440" "subst" "0" "00008" "RPGR_000213" "g.38145440C>A" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 1930G4T (p.Gly310X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764580" "1" "90" "X" "38145758" "38145758" "subst" "0" "00008" "HMCN1_000001" "g.38145758C>A" "" "{PMID:Pelletier 2007:16969763}" "" "ORF15 11059G4T (p.Glu353X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764927" "1" "70" "X" "38158208" "38158208" "subst" "0" "00000" "RPGR_000515" "g.38158208C>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.38298955C>A" "" "likely pathogenic" "" "0000764928" "1" "70" "X" "38145243" "38145244" "del" "0" "00000" "RPGR_000060" "g.38145243_38145244del" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.38285990_38285991del" "" "likely pathogenic" "" "0000765196" "0" "90" "X" "38146319" "38146320" "ins" "0" "01807" "RPGR_000524" "g.38146319_38146320insG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000765449" "1" "90" "X" "38182666" "38182667" "ins" "0" "00000" "RPGR_000532" "g.38182666_38182667insGCAGA" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.38323413_38323414insGCAGA" "" "pathogenic" "" "0000765450" "20" "90" "X" "38145012" "38145012" "del" "0" "00000" "RPGR_000526" "g.38145012del" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "3240del" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.38285759del" "" "pathogenic" "" "0000765451" "1" "90" "X" "38144891" "38144891" "del" "0" "00000" "RPGR_000525" "g.38144891del" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "3361del" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.38285638del" "" "pathogenic" "" "0000765473" "20" "70" "X" "38146285" "38146285" "subst" "0" "00000" "RPGR_000529" "g.38146285T>A" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.38287032T>A" "" "likely pathogenic" "" "0000765474" "0" "70" "X" "38146052" "38146052" "subst" "0" "00000" "RPGR_000527" "g.38146052C>T" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.38286799C>T" "" "likely pathogenic" "" "0000765491" "1" "70" "X" "38156669" "38156669" "subst" "0.000140126" "00000" "RPGR_000531" "g.38156669G>C" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "rs182345461" "0" "" "" "g.38297416G>C" "" "likely pathogenic" "" "0000765492" "20" "70" "X" "38146117" "38146117" "subst" "5.23447E-5" "00000" "RPGR_000528" "g.38146117T>C" "1/442 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 458 control chromosomes" "Germline" "" "" "0" "" "" "g.38286864T>C" "" "likely pathogenic" "" "0000765573" "20" "90" "X" "38146007" "38146007" "subst" "0" "00000" "RPGR_000234" "g.38146007C>A" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.38286754C>A" "" "pathogenic" "" "0000765574" "20" "90" "X" "38145214" "38145215" "del" "0" "00000" "RPGR_000059" "g.38145214_38145215del" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.38285961_38285962del" "" "pathogenic" "" "0000765575" "20" "90" "X" "38150657" "38150657" "dup" "0" "00000" "RPGR_000530" "g.38150657dup" "" "{PMID:Ge 2015:26667666}" "" "1495_1496insA" "" "Germline" "" "" "0" "" "" "g.38291404dup" "" "pathogenic" "" "0000783263" "1" "90" "X" "38176705" "38176706" "del" "0" "00000" "RPGR_000069" "g.38176705_38176706del" "" "{PMID:Almoguera 2015:26197217}" "" "485_486delTT" "" "Germline" "" "" "0" "" "" "g.38317452_38317453del" "" "pathogenic" "" "0000783890" "0" "70" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000450" "g.38180279C>T" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.38321026C>T" "" "likely pathogenic" "" "0000784125" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Xu 2014:24938718}" "" "c.2405_2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic (recessive)" "" "0000784162" "0" "50" "X" "38145257" "38145257" "subst" "0" "00000" "RPGR_000533" "g.38145257C>A" "1/205 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.38286004C>A" "" "VUS" "" "0000784223" "20" "90" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000450" "g.38180279C>T" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38321026C>T" "" "pathogenic (recessive)" "" "0000784224" "20" "90" "X" "38176658" "38176658" "dup" "0" "00000" "RPGR_000536" "g.38176658dup" "" "{PMID:Xu 2014:24938718}" "" "c.530dupT" "" "Germline" "" "" "0" "" "" "g.38317405dup" "" "pathogenic (recessive)" "" "0000784225" "20" "90" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.38298967G>A" "" "pathogenic (recessive)" "" "0000784226" "20" "90" "X" "38146179" "38146179" "dup" "0" "00000" "RPGR_000535" "g.38146179dup" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.38286926dup" "" "pathogenic (recessive)" "" "0000784227" "20" "90" "X" "38145823" "38145838" "del" "0" "00000" "RPGR_000534" "g.38145823_38145838del" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.38286570_38286585del" "" "pathogenic (recessive)" "" "0000784228" "20" "90" "X" "38145780" "38145781" "del" "0" "00000" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Xu 2014:24938718}" "" "c.2476_2477delAG" "" "Germline" "" "" "0" "" "" "g.38286527_38286528del" "" "pathogenic (recessive)" "" "0000784436" "0" "50" "X" "38146195" "38146195" "subst" "0.00412313" "00000" "RPGR_000038" "g.38146195A>T" "1/205 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs151247357" "0" "" "" "g.38286942A>T" "" "VUS" "" "0000784479" "0" "50" "X" "38145732" "38145752" "del" "0" "00000" "RPGR_000035" "g.38145732_38145752del" "5/204 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.2541_2561del21" "" "Germline" "" "" "0" "" "" "g.38286479_38286499del" "" "VUS" "" "0000784480" "0" "50" "X" "38164037" "38164037" "subst" "0.00118194" "00000" "RPGR_000047" "g.38164037G>C" "2/204 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs138018739" "0" "" "" "g.38304784G>C" "" "VUS" "" "0000784483" "0" "50" "X" "38145732" "38145752" "del" "0" "00000" "RPGR_000035" "g.38145732_38145752del" "5/204 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.2541_2561del21" "" "Germline" "" "" "0" "" "" "g.38286479_38286499del" "" "VUS" "" "0000784484" "0" "50" "X" "38164037" "38164037" "subst" "0.00118194" "00000" "RPGR_000047" "g.38164037G>C" "2/204 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs138018739" "0" "" "" "g.38304784G>C" "" "VUS" "" "0000784500" "0" "50" "X" "38145732" "38145752" "del" "0" "00000" "RPGR_000035" "g.38145732_38145752del" "5/204 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.2541_2561del21" "" "Germline" "" "" "0" "" "" "g.38286479_38286499del" "" "VUS" "" "0000785384" "0" "90" "X" "38176705" "38176706" "del" "0" "00000" "RPGR_000069" "g.38176705_38176706del" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.38317452_38317453del" "" "pathogenic" "" "0000785386" "0" "90" "X" "38145257" "38145260" "del" "0" "00000" "RPGR_000061" "g.38145257_38145260del" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.38286004_38286007del" "" "pathogenic" "" "0000785465" "20" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Maria 2015:25775262}" "" "" "" "Germline" "" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic" "" "0000785530" "0" "90" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.1234C>T" "" "Germline" "" "" "0" "" "" "g.38298967G>A" "" "pathogenic (dominant)" "" "0000785594" "21" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:González-del Pozo 2014:25544989}" "" "2405_2406delAG" "" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic (recessive)" "" "0000785595" "21" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:González-del Pozo 2014:25544989}" "" "2405_2406delAG" "" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic (recessive)" "" "0000786297" "0" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "2405-2406delAG" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000786362" "0" "90" "X" "38169867" "38169867" "subst" "0" "00000" "RPGR_000283" "g.38169867C>G" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.38310614C>G" "" "pathogenic" "" "0000786401" "0" "90" "X" "38145076" "38145077" "del" "0" "00000" "RPGR_000199" "g.38145076_38145077del" "" "{PMID:Consugar 2015:25412400}" "" "3178_3179delGA" "" "Germline" "" "" "0" "" "" "g.38285823_38285824del" "" "pathogenic" "" "0000786435" "0" "90" "X" "38178159" "38178160" "ins" "0" "00000" "RPGR_000540" "g.38178159_38178160insTCT" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "" "" "0" "" "" "g.38318906_38318907insTCT" "" "pathogenic" "" "0000786436" "0" "90" "X" "38178080" "38178080" "subst" "0" "00000" "RPGR_000538" "g.38178080A>T" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "" "" "0" "" "" "g.38318827A>T" "" "pathogenic" "" "0000786466" "0" "90" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38298967G>A" "" "pathogenic" "" "0000786507" "0" "70" "X" "38146229" "38146229" "subst" "0" "00000" "RPGR_000167" "g.38146229C>A" "" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Germline" "" "" "0" "" "" "g.38286976C>A" "" "likely pathogenic" "" "0000786508" "0" "70" "X" "38178108" "38178108" "subst" "0" "00000" "RPGR_000539" "g.38178108C>A" "" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Germline" "" "" "0" "" "" "g.38318855C>A" "" "likely pathogenic" "" "0000786509" "0" "70" "X" "38146285" "38146285" "del" "0" "00000" "RPGR_000537" "g.38146285del" "" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Germline" "" "" "0" "" "" "g.38287032del" "" "likely pathogenic" "" "0000786512" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Pierrottet 2014:25366773}" "" "" "" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000787621" "0" "70" "X" "38146246" "38146246" "subst" "0" "00000" "RPGR_000542" "g.38146246C>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38286993C>T" "" "likely pathogenic" "" "0000787642" "0" "70" "X" "38160626" "38160626" "subst" "0" "00000" "RPGR_000098" "g.38160626T>C" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38301373T>C" "" "likely pathogenic" "" "0000787661" "0" "70" "X" "38145875" "38145875" "subst" "0" "00000" "RPGR_000541" "g.38145875G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38286622G>A" "" "likely pathogenic" "" "0000787758" "0" "90" "X" "38144857" "38144858" "del" "0" "00006" "RPGR_000501" "g.38144857_38144858del" "" "{PMID:Duncker 2015:25283059}" "" "N1132fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000788120" "1" "90" "X" "38146271" "38146271" "subst" "0" "00000" "RPGR_000543" "g.38146271C>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.38287018C>A" "" "pathogenic" "" "0000788121" "1" "90" "X" "38158368" "38158371" "dup" "0" "00000" "RPGR_000544" "g.38158368_38158371dup" "" "{PMID:Oishi 2014:25324289}" "" "1087_1088insGTAG" "" "Germline" "" "" "0" "" "" "g.38299115_38299118dup" "" "pathogenic" "" "0000788122" "1" "90" "X" "38178081" "38178081" "subst" "0" "00000" "RPGR_000548" "g.38178081C>T" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.38318828C>T" "" "pathogenic" "" "0000788123" "1" "90" "X" "38163927" "38163928" "del" "0" "00000" "RPGR_000547" "g.38163927_38163928del" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.38304674_38304675del" "" "pathogenic" "" "0000788148" "1" "70" "X" "38163900" "38163900" "subst" "0" "00000" "RPGR_000546" "g.38163900C>G" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.38304647C>G" "" "likely pathogenic" "" "0000788403" "3" "50" "X" "38158384" "38158384" "subst" "0" "00000" "RPGR_000545" "g.38158384C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1070A" "" "Germline" "" "" "0" "" "" "g.38299131C>T" "" "VUS" "" "0000789704" "0" "55" "X" "38176617" "38176620" "del" "0" "00000" "RPGR_000566" "g.38176617_38176620del" "" "{PMID:Jin 2008:18310263}" "" "RPGR-ORF15 (R196fs) 568_571delAGAG" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000789773" "0" "90" "X" "38182649" "38182649" "del" "0" "00000" "RPGR_000569" "g.38182649del" "" "{PMID:Neidhardt 2008:18552978}" "" "c.154+3del4" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789774" "0" "90" "X" "38178249" "38178249" "del" "0" "00000" "RPGR_000568" "g.38178249del" "" "{PMID:Neidhardt 2008:18552978}" "" "c.311-9del13" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789775" "0" "90" "X" "38176595" "38176595" "subst" "0" "00000" "RPGR_000565" "g.38176595C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.593G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789776" "0" "90" "X" "38170002" "38170002" "subst" "0" "00000" "RPGR_000290" "g.38170002C>A" "" "{PMID:Neidhardt 2008:18552978}" "" "c.644G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789777" "0" "90" "X" "38164048" "38164048" "subst" "0" "00000" "RPGR_000280" "g.38164048A>C" "" "{PMID:Neidhardt 2008:18552978}" "" "c.779-5T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789778" "0" "90" "X" "38164009" "38164010" "del" "0" "00000" "RPGR_000564" "g.38164009_38164010del" "" "{PMID:Neidhardt 2008:18552978}" "" "c.812_813delTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789779" "0" "90" "X" "38146318" "38146319" "ins" "0" "00000" "RPGR_000562" "g.38146318_38146319insG" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+180_181insC (ORF15Gly60fs) / c.1933_1934insC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789780" "0" "90" "X" "38146014" "38146017" "del" "0" "00000" "RPGR_000561" "g.38146014_38146017del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+482_485delAGAA (ORF15Glu162fs) / c.2235_2238delAGAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789781" "0" "90" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+483_484delGA (ORF15Glu161fs) / c.2236_2237delGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789782" "0" "90" "X" "38145984" "38145984" "del" "0" "00000" "RPGR_000560" "g.38145984del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+515delA (ORF15Glu172fs) / c.2268delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789783" "0" "10" "X" "38150378" "38150378" "subst" "0" "00000" "RPGR_000563" "g.38150378T>A" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1507-101A>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789784" "0" "90" "X" "38145981" "38145982" "del" "0" "00000" "RPGR_000382" "g.38145981_38145982del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+517_518delAG (ORF15Glu172fs) / c.2270_2271delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789785" "0" "90" "X" "38145922" "38145931" "del" "0" "00000" "RPGR_000559" "g.38145922_38145931del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+568_577delAGAGGAAAAA (ORF15Glu189fs) / c.2321_2330delAGAGGAAAAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789786" "0" "90" "X" "38145911" "38145912" "del" "0" "00000" "RPGR_000379" "g.38145911_38145912del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+587_588delAG (ORF15Arg195fs) / c.2340_2341delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789787" "0" "90" "X" "38145181" "38145192" "del" "0" "00000" "RPGR_000202" "g.38145181_38145192del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+1307_1318delAGTGGAAGGGGA / c.3060_3071del12" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789788" "0" "90" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+652_653delAG (ORF15Glu217fs) / c.2405_2406delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789789" "0" "90" "X" "38145825" "38145826" "del" "0" "00000" "RPGR_000164" "g.38145825_38145826del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+673_674delAG (ORF15Glu224fs) / c.2426_2427delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789790" "0" "90" "X" "38145809" "38145809" "subst" "0" "00000" "RPGR_000558" "g.38145809C>A" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+690G>T(stop) (ORF15Glu230Ter) / c.2443G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789791" "0" "90" "X" "38145785" "38145785" "subst" "0" "00000" "RPGR_000223" "g.38145785T>A" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+714A>T (stop) (ORF15Lys238Ter) / c.2467A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789792" "0" "90" "X" "38145752" "38145753" "dup" "0" "00000" "RPGR_000557" "g.38145752_38145753dup" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+747_748insTG (ORF15Glu249fs) / c.2499_2500dupTG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789793" "0" "10" "X" "38156584" "38156584" "subst" "0.0084194" "00000" "RPGR_000004" "g.38156584T>C" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1367A>G" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789794" "0" "90" "X" "38145751" "38145751" "del" "0" "00000" "RPGR_000367" "g.38145751del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+748delA (ORF15Glu249fs) / c.2501delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789795" "0" "10" "X" "38158290" "38158290" "subst" "0.109585" "00000" "RPGR_000001" "g.38158290C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1164G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789796" "0" "90" "X" "38145746" "38145746" "del" "0" "00000" "RPGR_000228" "g.38145746del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+753delG (ORF15Glu251fs) / c.2506delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789797" "0" "10" "X" "38158290" "38158290" "subst" "0.109585" "00000" "RPGR_000001" "g.38158290C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1164G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789798" "0" "90" "X" "38145746" "38145746" "del" "0" "00000" "RPGR_000556" "g.38145746del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+795delG (ORF15Glu265fs) / c.2548delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789799" "0" "90" "X" "38145746" "38145746" "del" "0" "00000" "RPGR_000556" "g.38145746del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+795delG (ORF15Glu265fs) / c.2548delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789800" "0" "10" "X" "38144856" "38144856" "subst" "0.164719" "00000" "RPGR_000552" "g.38144856G>A" "" "{PMID:Neidhardt 2008:18552978}" "" "c.3396C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789801" "0" "10" "X" "38144822" "38144822" "subst" "0.139556" "00000" "RPGR_000074" "g.38144822C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.3430G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789802" "0" "10" "X" "38145419" "38145439" "dup" "0" "00000" "RPGR_000034" "g.38145419_38145439dup" "" "{PMID:Neidhardt 2009:18552978}" "" "g.ORF15+1060_1080dup21 / c.2813_2833dup21" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789803" "0" "10" "X" "38182792" "38182792" "subst" "0.215762" "00000" "RPGR_000137" "g.38182792C>T" "" "{PMID:Neidhardt 2009:18552978}" "" "c.29-15G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789804" "0" "90" "X" "38145698" "38145698" "dup" "0" "00000" "RPGR_000555" "g.38145698dup" "" "{PMID:Neidhardt 2008:18552978}" "" "c.2554dupG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789805" "0" "10" "X" "38144686" "38144686" "subst" "0" "00000" "RPGR_000551" "g.38144686T>G" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+801_802insG (ORF15Glu267fs) / c.3566A>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789806" "0" "90" "X" "38145665" "38145666" "del" "0" "00000" "RPGR_000357" "g.38145665_38145666del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+833_834delGG (ORF15Glu278fs) / c.2586_2587delGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789807" "0" "90" "X" "38145181" "38145192" "del" "0" "00000" "RPGR_000202" "g.38145181_38145192del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+1307_1318delAGTGGAAGGGGA / c.3060_3071del12" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789808" "0" "90" "X" "38145623" "38145624" "del" "0" "00000" "RPGR_000220" "g.38145623_38145624del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+875_876delGG (ORF15Glu292fs) / c.2628_2629delGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789809" "0" "90" "X" "38145412" "38145432" ";" "0" "00000" "RPGR_000554" "g.[38145412_38145432dup21;38145411_38145412insT]" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+1087_1088ins22 (ORF15Glu365fs) / c.[2820_2840dup21; 2840dupA]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789810" "0" "10" "X" "38144856" "38144856" "subst" "0.164719" "00000" "RPGR_000552" "g.38144856G>A" "" "{PMID:Neidhardt 2008:18552978}" "" "c.3396C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789811" "0" "10" "X" "38144822" "38144822" "subst" "0.139556" "00000" "RPGR_000074" "g.38144822C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.3430G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789812" "0" "10" "X" "38144686" "38144686" "subst" "0" "00000" "RPGR_000551" "g.38144686T>G" "" "{PMID:Neidhardt 2008:18552978}" "" "c.3566A>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789813" "0" "10" "X" "38160526" "38160526" "subst" "0.00703357" "00000" "RPGR_000046" "g.38160526T>C" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1033A>G" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789814" "0" "10" "X" "38150378" "38150378" "subst" "0" "00000" "RPGR_000563" "g.38150378T>A" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1507-101A>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789815" "0" "90" "X" "38145242" "38145245" "del" "0" "00000" "RPGR_000324" "g.38145242_38145245del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+1254_1257delGGAG (ORF15Gly418fs) / c.3007_3010delGGAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789816" "0" "90" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+1339delA (ORF15Glu446fs) / c.3092delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789817" "0" "10" "X" "38144856" "38144856" "subst" "0.164719" "00000" "RPGR_000552" "g.38144856G>A" "" "{PMID:Neidhardt 2008:18552978}" "" "c.3396C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789818" "0" "10" "X" "38182792" "38182792" "subst" "0.215762" "00000" "RPGR_000137" "g.38182792C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.29-15G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789819" "0" "10" "X" "38160526" "38160526" "subst" "0.00703357" "00000" "RPGR_000046" "g.38160526T>C" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1033A>G" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789820" "0" "10" "X" "38144822" "38144822" "subst" "0.139556" "00000" "RPGR_000074" "g.38144822C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.3430G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789821" "0" "90" "X" "38144857" "38144857" "del" "0" "00000" "RPGR_000553" "g.38144857del" "" "{PMID:Neidhardt 2008:18552978}" "" "c.3395delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789822" "0" "10" "X" "38150378" "38150378" "subst" "0" "00000" "RPGR_000563" "g.38150378T>A" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1507-101A>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789823" "0" "10" "X" "38145583" "38145585" "del" "0" "00000" "RPGR_000219" "g.38145583_38145585del" "" "{PMID:Neidhardt 2008:18552978}" "" "g.ORF15+914_916delGGA / c.2667_2669del3" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789824" "0" "10" "X" "38145911" "38145911" "subst" "0.121374" "00000" "RPGR_000080" "g.38145911C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.2341G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789825" "0" "10" "X" "38182792" "38182792" "subst" "0.215762" "00000" "RPGR_000137" "g.38182792C>T" "" "{PMID:Neidhardt 2008:18552978}" "" "c.29-15G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789826" "0" "10" "X" "38160526" "38160526" "subst" "0.00703357" "00000" "RPGR_000046" "g.38160526T>C" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1033A>G" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789827" "0" "10" "X" "38150378" "38150378" "subst" "0" "00000" "RPGR_000563" "g.38150378T>A" "" "{PMID:Neidhardt 2008:18552978}" "" "c.1507-101A>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000789844" "20" "70" "X" "38128875" "38128875" "del" "0" "00000" "RPGR_000550" "g.38128875del" "" "{PMID:Avela 2019:31087526}" "" "c.2452delG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000789845" "20" "70" "X" "38128758" "38128758" "delins" "0" "00000" "RPGR_000549" "g.38128758delinsCC" "" "{PMID:Avela 2019:31087526}" "" "c.2569delinsGG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000789846" "20" "70" "X" "38128758" "38128758" "delins" "0" "00000" "RPGR_000549" "g.38128758delinsCC" "" "{PMID:Avela 2019:31087526}" "" "c.2569delinsGG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000789850" "20" "70" "X" "38178217" "38178217" "subst" "0" "00000" "RPGR_000567" "g.38178217C>A" "" "{PMID:Avela 2019:31087526}" "" "c.334G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790344" "0" "50" "X" "38145405" "38145405" "subst" "0" "00000" "RPGR_000571" "g.38145405T>G" "" "{PMID:Robson 2008:17962389}" "" "ORF15+A1094C G1095T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790345" "0" "50" "X" "38145405" "38145405" "subst" "0" "00000" "RPGR_000571" "g.38145405T>G" "" "{PMID:Robson 2008:17962389}" "" "ORF15+A1094C G1095T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790346" "0" "50" "X" "38145405" "38145405" "subst" "0" "00000" "RPGR_000571" "g.38145405T>G" "" "{PMID:Robson 2008:17962389}" "" "ORF15+A1094C G1095T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790347" "0" "50" "X" "38145323" "38145323" "subst" "0" "00000" "RPGR_000206" "g.38145323C>A" "" "{PMID:Robson 2008:17962389}" "" "ORF15+1176G.T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790366" "20" "90" "X" "38147297" "38147297" "subst" "0" "00000" "RPGR_000578" "g.38147297G>C" "" "{PMID:Prokisch 2007:17724181}" "" "c.1573-3C>G (Truncated)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790367" "20" "90" "X" "38156552" "38156552" "subst" "0" "00000" "RPGR_000253" "g.38156552G>A" "" "{PMID:Prokisch 2007:17724181}" "" "c.1399C>T (p.Q467X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790368" "20" "90" "X" "38163968" "38163968" "subst" "0" "00000" "RPGR_000000" "g.38163968C>T" "" "{PMID:Prokisch 2007:17724181}" "" "c.854G>A (p.G275S)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790369" "20" "90" "X" "38156546" "38156549" "del" "0" "00000" "RPGR_000252" "g.38156546_38156549delCTGG" "" "{PMID:Prokisch 2007:17724181}" "" "c.1402_1405delCCAG (p.P468Rfs*7)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790370" "20" "90" "X" "38160498" "38160498" "subst" "0" "00000" "RPGR_000581" "g.38160498A>G" "" "{PMID:Prokisch 2007:17724181}" "" "c.1059+2T>C (Spl)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790371" "20" "90" "X" "38143701" "38180343" "del" "0" "00000" "RPGR_000570" "g.38143701_38180343del" "" "{PMID:Prokisch 2007:17724181}" "" "delexon4–15 (Truncated)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790372" "20" "90" "X" "38186592" "38186592" "subst" "0" "00000" "RPGR_000314" "g.38186592C>T" "" "{PMID:Prokisch 2007:17724181}" "" "c.28+1G>A (Spl)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790373" "20" "90" "X" "38163968" "38163968" "subst" "0" "00000" "RPGR_000000" "g.38163968C>T" "" "{PMID:Prokisch 2007:17724181}" "" "c.854G>A (p.G275S)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790374" "20" "90" "X" "38150675" "38150675" "del" "0" "00000" "RPGR_000250" "g.38150675delG" "" "{PMID:Prokisch 2007:17724181}" "" "c.1477delC (p.G494Efs*7)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790375" "20" "90" "X" "38158275" "38158275" "subst" "0" "00000" "RPGR_000580" "g.38158275A>C" "" "{PMID:Prokisch 2007:17724181}" "" "c.1179T>G (p.Y393X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790376" "20" "90" "X" "38169882" "38169882" "subst" "0" "00000" "RPGR_000100" "g.38169882G>A" "" "{PMID:Prokisch 2007:17724181}" "" "c.764C>T (p.T255I)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790377" "20" "90" "X" "38147238" "38147239" "ins" "0" "00000" "RPGR_000577" "g.38147238_38147239insTCATCGTT" "" "{PMID:Prokisch 2007:17724181}" "" "c.1628_1629insAACGATGA (p.D543Efs*14)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790378" "20" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Prokisch 2007:17724181}" "" "del6.4kb (Lossoffunction)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790379" "20" "90" "X" "38145750" "38145750" "del" "0" "00000" "RPGR_000228" "g.38145750delC" "" "{PMID:Prokisch 2007:17724181}" "" "c.2502delG (p.E836Kfs*253)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790380" "20" "90" "X" "38145981" "38145982" "del" "0" "00000" "RPGR_000382" "g.38145981_38145982delCT" "" "{PMID:Prokisch 2007:17724181}" "" "c.2270_2271delAG (p.E757Gfs*12)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790381" "20" "90" "X" "38146081" "38146081" "del" "0" "00000" "RPGR_000574" "g.38146081delT" "" "{PMID:Prokisch 2007:17724181}" "" "c.2171delA (p.N724Tfs*90)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790382" "20" "90" "X" "38145704" "38145704" "del" "0" "00000" "RPGR_000556" "g.38145704delC" "" "{PMID:Prokisch 2007:17724181}" "" "c.2548delG (p.E850Kfs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790383" "20" "90" "X" "38145224" "38145225" "del" "0" "00000" "RPGR_000323" "g.38145224_38145225del" "" "{PMID:Prokisch 2007:17724181}" "" "c.3027-3028delGG (p.E1010Gfs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790384" "20" "90" "X" "38145928" "38145929" "del" "0" "00000" "RPGR_000573" "g.38145928_38145929delCT" "" "{PMID:Prokisch 2007:17724181}" "" "c.2323-2324delAG (p.R775Efs*58)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790385" "20" "90" "X" "38146103" "38146104" "ins" "0" "00000" "RPGR_000575" "g.38146103_38146104ins356" "" "{PMID:Prokisch 2007:17724181}" "" "c.2148-2149ins356 (p.E716_Q717ins*22)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790386" "20" "90" "X" "38145585" "38145704" "delins" "0" "00000" "RPGR_000572" "g.38145585_38145704delinsTTCTCCCT" "" "{PMID:Prokisch 2007:17724181}" "" "c.2548–2667del120insAGGGAGAA (p.E850–E889delinsREGfs*199)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790404" "1" "70" "X" "38158250" "38158254" "del" "0" "00000" "RPGR_000579" "g.38158250_38158254del" "" "{PMID:Wang 2014:25097241}" "" "c.1202_1206del5" "" "Germline" "" "" "0" "" "" "g.38298997_38299001del" "" "likely pathogenic" "" "0000790441" "1" "70" "X" "38182714" "38182714" "subst" "0" "00000" "RPGR_000582" "g.38182714C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.38323461C>T" "" "likely pathogenic" "" "0000790442" "1" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Wang 2014:25097241}" "" "c.3178_3179delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790464" "0" "50" "X" "38163917" "38163917" "subst" "0.000901058" "00000" "RPGR_000134" "g.38163917C>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs62640590" "0" "" "" "g.38304664C>G" "" "VUS" "" "0000790554" "0" "50" "X" "38147158" "38147158" "subst" "0.000134856" "00000" "RPGR_000576" "g.38147158G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs202154504" "0" "" "" "g.38287905G>A" "" "VUS" "" "0000790580" "0" "50" "X" "38182653" "38182653" "subst" "0.000377567" "00000" "RPGR_000056" "g.38182653G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs201242851" "0" "" "" "g.38323400G>A" "" "VUS" "" "0000790676" "1" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Daiger 2014:24664689}" "" "c.2212C>A (Gly738*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790677" "1" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Daiger 2014:24664689}" "" "c.194C>T (Gly65Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790684" "1" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Daiger 2014:24664689}" "" "Gly738*" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790685" "1" "90" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Daiger 2014:24664689}" "" "Gly65Asp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000790877" "20" "70" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Ji-2010:20021257}" "" "ORF15+483_484delGA (p.Glu746ArgfsX768)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790878" "20" "70" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Ji-2010:20021257}" "" "ORF15+483_484delGA (p.Glu746ArgfsX768)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790879" "20" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Ji-2010:20021257}" "" "ORF15+652_653delAG (p.Glu802GlyfsX833)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790880" "20" "70" "X" "38145846" "38145849" "del" "0" "00000" "RPGR_000375" "g.38145846_38145849del" "" "{PMID:Ji-2010:20021257}" "" "ORF15+650_653delAGAG (p.Thr801ThrfsX813)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000791131" "21" "90" "X" "38178167" "38178168" "del" "0" "00000" "RPGR_000585" "g.38178167_38178168del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38318914_38318915del" "" "pathogenic" "ACMG" "0000791132" "21" "90" "X" "38178167" "38178168" "del" "0" "00000" "RPGR_000585" "g.38178167_38178168del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38318914_38318915del" "" "pathogenic" "ACMG" "0000791133" "21" "90" "X" "38178167" "38178168" "del" "0" "00000" "RPGR_000585" "g.38178167_38178168del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38318914_38318915del" "" "pathogenic" "ACMG" "0000791134" "21" "90" "X" "38178167" "38178168" "del" "0" "00000" "RPGR_000585" "g.38178167_38178168del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38318914_38318915del" "" "pathogenic" "ACMG" "0000791135" "21" "90" "X" "38178167" "38178168" "del" "0" "00000" "RPGR_000585" "g.38178167_38178168del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38318914_38318915del" "" "pathogenic" "ACMG" "0000791136" "21" "90" "X" "38178167" "38178168" "del" "0" "00000" "RPGR_000585" "g.38178167_38178168del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38318914_38318915del" "" "pathogenic" "ACMG" "0000791179" "21" "70" "X" "38170014" "38170014" "subst" "0" "00000" "RPGR_000584" "g.38170014A>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38310761A>C" "" "likely pathogenic" "ACMG" "0000791180" "10" "70" "X" "38170014" "38170014" "subst" "0" "00000" "RPGR_000584" "g.38170014A>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38310761A>C" "" "likely pathogenic" "ACMG" "0000791181" "10" "70" "X" "38170014" "38170014" "subst" "0" "00000" "RPGR_000584" "g.38170014A>C" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38310761A>C" "" "likely pathogenic" "ACMG" "0000791189" "21" "90" "X" "38158208" "38158208" "subst" "0" "00000" "RPGR_000583" "g.38158208C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.24082700G>A" "" "pathogenic" "ACMG" "0000791190" "21" "90" "X" "38158208" "38158208" "subst" "0" "00000" "RPGR_000583" "g.38158208C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38298955C>T" "" "pathogenic" "ACMG" "0000791191" "21" "90" "X" "38158208" "38158208" "subst" "0" "00000" "RPGR_000583" "g.38158208C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38298955C>T" "" "pathogenic" "ACMG" "0000791195" "21" "90" "X" "38145111" "38145112" "dup" "0" "00000" "RPGR_000459" "g.38145111_38145112dup" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38285858_38285859dup" "" "pathogenic" "ACMG" "0000791196" "21" "90" "X" "38145111" "38145112" "dup" "0" "00000" "RPGR_000459" "g.38145111_38145112dup" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38285858_38285859dup" "" "pathogenic" "ACMG" "0000791197" "11" "90" "X" "38145111" "38145112" "dup" "0" "00000" "RPGR_000459" "g.38145111_38145112dup" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38285858_38285859dup" "" "pathogenic" "ACMG" "0000791198" "21" "90" "X" "38145111" "38145112" "dup" "0" "00000" "RPGR_000459" "g.38145111_38145112dup" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38285858_38285859dup" "" "pathogenic" "ACMG" "0000791213" "21" "70" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38323399C>T" "" "likely pathogenic" "ACMG" "0000791214" "11" "70" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38323399C>T" "" "likely pathogenic" "ACMG" "0000791215" "11" "70" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.38323399C>T" "" "likely pathogenic" "ACMG" "0000791545" "20" "70" "X" "38176705" "38176706" "del" "0" "00000" "RPGR_000069" "g.38176705_38176706del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38317452_38317453del" "" "likely pathogenic" "" "0000791546" "11" "70" "X" "38163933" "38163934" "del" "0" "00000" "RPGR_000484" "g.38163933_38163934del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.38304680_38304681del" "" "likely pathogenic" "" "0000791547" "21" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000791548" "21" "70" "X" "38145957" "38145960" "del" "0" "00000" "RPGR_000586" "g.38145957_38145960del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.38286704_38286707del" "" "likely pathogenic" "" "0000791576" "21" "70" "X" "38160582" "38160582" "subst" "0" "00000" "RPGR_000587" "g.38160582T>G" "" "{PMID:Hosono 2018:29844330}" "" "c.977A>C" "hemizygous, causative variant" "Germline" "yes" "" "0" "" "" "g.38301329T>G" "" "likely pathogenic" "ACMG" "0000791917" "0" "70" "X" "38146040" "38146040" "subst" "0" "00000" "RPGR_000593" "g.38146040C>A" "" "{PMID:Bowne 2011:20861475}" "" "c.2212G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000791918" "0" "90" "X" "38182159" "38182159" "subst" "0" "00000" "RPGR_000596" "g.38182159C>T" "" "{PMID:Bowne 2011:20861475}" "" "c.194G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792252" "0" "90" "X" "38180344" "38180344" "subst" "0" "00000" "RPGR_000595" "g.38180344T>C" "" "{PMID:_Audo-2012:22277662}" "" "c.248-2A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792325" "0" "90" "X" "38146499" "38146500" "ins" "0" "00000" "RPGR_000594" "g.38146499_38146500insT" "" "{PMID:Thiadens_2012:22264887}" "" "g.ORF15+1564-1565insA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792326" "0" "90" "X" "38143338" "38143339" "del" "0" "00000" "RPGR_000592" "g.38143338_38143339delTA" "" "{PMID:Thiadens_2012:22264887}" "" "g.ORF15+1580delTA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792347" "0" "70" "X" "38145848" "38145849" "del" "0" "03508" "RPGR_000078" "g.38145848_38145849del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "ACMG" "0000792361" "0" "70" "X" "38145474" "38145474" "del" "0" "03508" "RPGR_000588" "g.38145474del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38286221del" "" "pathogenic" "ACMG" "0000793687" "20" "90" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Chakarova-2006:16917484}" "" "c.ORF15+652_653delAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000793688" "3" "90" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Chakarova-2006:16917484}" "" "c.ORF15+652_653delAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000793689" "0" "90" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Chakarova-2006:16917484}" "" "c.ORF15+652_653delAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000793820" "0" "70" "X" "38145224" "38145225" "del" "0" "00000" "RPGR_000323" "g.38145224_38145225del" "" "{PMID:Zhou-2011:21677794}" "" "c.3027_3028del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793821" "0" "70" "X" "38145775" "38145776" "del" "0" "00000" "RPGR_000371" "g.38145775_38145776del" "" "{PMID:Zhou-2011:21677794}" "" "c.2476_2477del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793822" "0" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Zhou-2011:21677794}" "" "c.2405_2406del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793823" "20" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Zhou-2011:21677794}" "" "c.2405_2406del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793824" "0" "70" "X" "38146342" "38146342" "subst" "0" "00000" "RPGR_000401" "g.38146342C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.1910G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793825" "0" "70" "X" "38147181" "38147182" "del" "0" "00000" "RPGR_000407" "g.38147181_38147182del" "" "{PMID:Zhou-2011:21677794}" "" "c.1685_1686del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793826" "20" "70" "X" "38147237" "38147237" "subst" "1.12189E-5" "00000" "RPGR_000408" "g.38147237T>C" "" "{PMID:Zhou-2011:21677794}" "" "c.1630A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793827" "20" "70" "X" "38178120" "38178120" "subst" "0" "00000" "RPGR_000445" "g.38178120T>C" "" "{PMID:Zhou-2011:21677794}" "" "c.431A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793828" "0" "70" "X" "38178199" "38178199" "subst" "0" "00000" "RPGR_000448" "g.38178199G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.352C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793829" "0" "70" "X" "38182684" "38182684" "subst" "0" "00000" "RPGR_000456" "g.38182684G>C" "" "{PMID:Zhou-2011:21677794}" "" "c.122C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793904" "20" "90" "X" "38158210" "38158211" "del" "0" "00000" "RPGR_000170" "g.38158210_38158211del" "" "{PMID:Foote-2019:10480356}" "" "c.1243_1244delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793908" "20" "70" "X" "38186588" "38186588" "subst" "0" "00000" "RPGR_000104" "g.38186588C>T" "" "{PMID:Foote-2019:10480356}" "" "c.28+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793921" "0" "70" "X" "38180279" "38180279" "subst" "0" "03508" "RPGR_000589" "g.38180279C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000793948" "20" "70" "X" "38145627" "38145627" "dup" "0" "00000" "RPGR_000221" "g.38145627dup" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.2625dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793964" "0" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000078" "g.38145846_38145847delCT" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.2405_2406delAG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793970" "0" "70" "X" "38146324" "38146324" "subst" "0" "00000" "RPGR_000237" "g.38146324G>C" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.1928C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794042" "0" "70" "X" "38176670" "38176670" "subst" "0" "03508" "RPGR_000590" "g.38176670C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794108" "0" "70" "X" "38145284" "38145291" "dup" "0" "03508" "RPGR_000591" "g.38145284_38145291dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" ".38286031_38286038dup" "" "pathogenic" "ACMG" "0000794119" "0" "70" "X" "38145316" "38145317" "del" "0" "03508" "RPGR_000331" "g.38145316_38145317del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38286063_38286064del" "" "pathogenic" "ACMG" "0000794149" "0" "70" "8" "2975943" "2975943" "subst" "4.0805E-6" "00000" "RPGR_000001" "g.2975943G>C" "" "{PMID:Wan 2018:30245926}" "" "c.6408C>G; p.Asn2136Lys" "Known high myopia gene; heterozygous variant" "Unknown" "?" "rs778164827" "0" "" "" "g.3118421G>C" "" "likely pathogenic" "" "0000794150" "0" "70" "8" "3165341" "3165341" "subst" "5.34421E-5" "00000" "RPGR_000002" "g.3165341C>T" "" "{PMID:Wan 2018:30245926}" "" "c.3826G>A; p.Glu1276Lys" "Known high myopia gene; heterozygous variant" "Unknown" "?" "rs534926586" "0" "" "" "g.3307819C>T" "" "likely pathogenic" "" "0000794381" "0" "90" "X" "38180277" "38180277" "subst" "0" "00000" "RPGR_000301" "g.38180277T>C" "" "{PMID:Wang 2018:30029497}" "" "NM_000328.2:c.310+3A>G, NP_000319.1:p.?, NC_000023.10:g.38180277T>C" "different transcript (NM_000328.2) in publication" "Germline" "?" "" "0" "" "" "g.38321024T>C" "" "pathogenic" "ACMG" "0000794382" "0" "90" "X" "38146034" "38146034" "subst" "0" "00000" "RPGR_000386" "g.38146034C>A" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.2218G>T, NP_001030025.1:p.(Glu740Ter), NC_000023.10:g.38146034C>A" "" "Germline" "?" "" "0" "" "" "g.38286781C>A" "" "pathogenic" "ACMG" "0000794383" "0" "90" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.3092del, NP_001030025.1:p.(Glu1031GlyfsTer58), NC_000023.10:g.38145160del" "" "Germline" "?" "" "0" "" "" "g.38285907del" "" "pathogenic" "ACMG" "0000794384" "0" "90" "X" "38182779" "38182779" "subst" "0" "00000" "RPGR_000601" "g.38182779T>A" "" "{PMID:Wang 2018:30029497}" "" "NM_000328.2:c.29-2A>T, NP_000319.1:p.?, NC_000023.10:g.38182779T>A" "different transcript (NM_000328.2) in publication" "Germline" "?" "" "0" "" "" "g.38323526T>A" "" "pathogenic" "ACMG" "0000794385" "0" "90" "X" "38145557" "38145557" "subst" "0" "00000" "RPGR_000597" "g.38145557C>A" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.2695G>T, NP_001030025.1:p.(Glu899Ter), NC_000023.10:g.38145557C>A" "" "Germline" "?" "" "0" "" "" "g.38286304C>A" "" "pathogenic" "ACMG" "0000794386" "0" "90" "X" "38156552" "38156552" "subst" "0" "00000" "RPGR_000253" "g.38156552G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_000328.2:c.1399C>T, NP_000319.1:p.(Gln467Ter), NC_000023.10:g.38156552G>A" "different transcript (NM_000328.2) in publication" "Germline" "?" "" "0" "" "" "g.38297299G>A" "" "pathogenic" "ACMG" "0000794387" "0" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.2405_2406del, NP_001030025.1:p.(Glu802GlyfsTer32), NC_000023.10:g.38145848_38145849del" "" "Germline" "?" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "ACMG" "0000794388" "0" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.2236_2237del, NP_001030025.1:p.(Glu746ArgfsTer23), NC_000023.10:g.38146018_38146019del" "" "Germline" "?" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "ACMG" "0000794389" "0" "70" "X" "38146501" "38146501" "subst" "0" "00000" "RPGR_000599" "g.38146501G>C" "" "{PMID:Wang 2018:30029497}" "" "NM_000328.2:c.1754-3C>G, NP_000319.1:p.?, NC_000023.10:g.38146501G>C" "different transcript (NM_000328.2) in publication" "Germline" "?" "" "0" "" "" "g.38287248G>C" "" "likely pathogenic" "ACMG" "0000794390" "0" "70" "X" "38146501" "38146501" "subst" "0" "00000" "RPGR_000599" "g.38146501G>C" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.1754-3C>G, NP_001030025.1:p.?, NC_000023.10:g.38146501G>C" "" "Germline" "?" "" "0" "" "" "g.38287248G>C" "" "likely pathogenic" "ACMG" "0000794391" "0" "90" "X" "38145289" "38145290" "del" "0" "00000" "RPGR_000160" "g.38145289_38145290del" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.2964_2965del, NP_001030025.1:p.(Glu989GlyfsTer89), NC_000023.10:g.38145289_38145290del" "" "Germline" "?" "" "0" "" "" "g.38286036_38286037del" "" "pathogenic" "ACMG" "0000794392" "0" "90" "X" "38178178" "38178178" "subst" "0" "00000" "RPGR_000600" "g.38178178C>A" "" "{PMID:Wang 2018:30029497}" "" "NM_000328.2:c.373G>T, NP_000319.1:p.(Glu125Ter), NC_000023.10:g.38178178C>A" "different transcript (NM_000328.2) in publication" "Germline" "?" "" "0" "" "" "g.38318925C>A" "" "pathogenic" "ACMG" "0000794393" "0" "90" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.3092del, NP_001030025.1:p.(Glu1031GlyfsTer58), NC_000023.10:g.38145160del" "" "Germline" "?" "" "0" "" "" "g.38285907del" "" "pathogenic" "ACMG" "0000794394" "0" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Wang 2018:30029497}" "" "NM_001034853.1:c.2405_2406del, NP_001030025.1:p.(Glu802GlyfsTer32), NC_000023.10:g.38145848_38145849del" "" "Germline" "?" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "ACMG" "0000794758" "0" "70" "X" "38146018" "38146019" "del" "0" "03508" "RPGR_000064" "g.38146018_38146019del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "ACMG" "0000794776" "0" "70" "X" "38145959" "38145959" "subst" "0" "03508" "RPGR_000381" "g.38145959C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794835" "21" "70" "X" "38146020" "38146023" "del" "0" "00000" "RPGR_000598" "g.38146020_38146023del" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001034853, c.2232_2235del, p.Asp744GlufsTer70" "" "Germline" "yes" "" "0" "" "" "g.38286767_38286770del" "" "likely pathogenic" "" "0000794836" "21" "70" "X" "38146020" "38146023" "del" "0" "00000" "RPGR_000598" "g.38146020_38146023del" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001034853, c.2232_2235del, p.Asp744GlufsTer70" "" "Germline" "yes" "" "0" "" "" "g.38286767_38286770del" "" "likely pathogenic" "" "0000794837" "21" "70" "X" "38146020" "38146023" "del" "0" "00000" "RPGR_000598" "g.38146020_38146023del" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001034853, c.2232_2235del, p.Asp744GlufsTer70" "" "Germline" "yes" "" "0" "" "" "g.38286767_38286770del" "" "likely pathogenic" "" "0000795688" "21" "90" "X" "38182104" "38182104" "subst" "0" "00000" "RPGR_000491" "g.38182104A>G" "" "{PMID:Ivanova 2018:30358468}" "" "c.247+2T>C; -" "" "Germline" "?" "" "0" "" "" "g.38322851A>G" "" "pathogenic" "" "0000795874" "20" "90" "X" "38186591" "38186591" "subst" "0" "00000" "RPGR_000621" "g.38186591A>C" "" "{PMID:Branham-2012:23150612}" "" "c.28+2T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795875" "20" "90" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000312" "g.38182652C>A" "" "{PMID:Branham-2012:23150612}" "" "c.154G>T (p.Gly52X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795876" "20" "90" "X" "38182200" "38182200" "subst" "0" "00000" "RPGR_000193" "g.38182200T>C" "" "{PMID:Branham-2012:23150612}" "" "c.155-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795877" "20" "90" "X" "38182178" "38182180" "delins" "0" "00000" "RPGR_000620" "g.38182178_38182180delinsC" "" "{PMID:Branham-2012:23150612}" "" "c.173delT;177delT (p.Met58fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795878" "20" "90" "X" "38178091" "38178091" "subst" "0" "00000" "RPGR_000617" "g.38178091C>G" "" "{PMID:Branham-2012:23150612}" "" "c.460G>C (p.Ala154Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795879" "20" "90" "X" "38178080" "38178080" "subst" "0" "00000" "RPGR_000538" "g.38178080A>T" "" "{PMID:Branham-2012:23150612}" "" "c.469+2T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795880" "20" "90" "X" "38163953" "38163953" "del" "0" "00000" "RPGR_000276" "g.38163953delT" "" "{PMID:Branham-2012:23150612}" "" "c.869delA (p.Glu290fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795881" "20" "90" "X" "38163887" "38163887" "subst" "0" "00000" "RPGR_000270" "g.38163887C>T" "" "{PMID:Branham-2012:23150612}" "" "c.934+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795882" "20" "90" "X" "38158237" "38158238" "del" "0" "00000" "RPGR_000516" "g.38158237_38158238delAG" "" "{PMID:Branham-2012:23150612}" "" "c.1216_1217delCT (p.Leu406fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795883" "20" "90" "X" "38156606" "38156606" "subst" "0" "00000" "RPGR_000132" "g.38156606G>A" "" "{PMID:Branham-2012:23150612}" "" "c.1345C>T (p.Arg449X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795884" "20" "90" "X" "38156603" "38156603" "subst" "1.67923E-5" "00000" "RPGR_000615" "g.38156603A>G" "" "{PMID:Branham-2012:23150612}" "" "c.1348T>C (p.Cys450Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795885" "20" "90" "X" "38147168" "38147168" "subst" "0" "00000" "RPGR_000613" "g.38147168T>A" "" "{PMID:Branham-2012:23150612}" "" "c.1699A>T (p.Ile567Phe)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795886" "20" "90" "X" "38146164" "38146164" "del" "0" "00000" "RPGR_000611" "g.38146164delT" "" "{PMID:Branham-2012:23150612}" "" "c.2088delA (p.Leu696fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795887" "20" "90" "X" "38146025" "38146025" "subst" "0" "00000" "RPGR_000609" "g.38146025C>A" "" "{PMID:Branham-2012:23150612}" "" "c.2227G>T (p.Gly743X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795888" "20" "90" "X" "38146015" "38146018" "del" "0" "00000" "RPGR_000384" "g.38146015_38146018delTCTC" "" "{PMID:Branham-2012:23150612}" "" "c.2234_2237delGAGA (p.Arg745fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795889" "20" "90" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016delTC" "" "{PMID:Branham-2012:23150612}" "" "c.2236_2237delGA (p.Glu746fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795890" "20" "90" "X" "38145953" "38145956" "del" "0" "00000" "RPGR_000586" "g.38145953_38145956delCTCC" "" "{PMID:Branham-2012:23150612}" "" "c.2296_2299delGGAG (p.Gly766fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795891" "20" "90" "X" "38145868" "38145868" "del" "0" "00000" "RPGR_000063" "g.38145868delT" "" "{PMID:Branham-2012:23150612}" "" "c.2384delA (p.Glu795fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795892" "20" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810delCTCT" "" "{PMID:Branham-2012:23150612}" "" "c.2442_2445delAGAG (p.Val814fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795893" "20" "90" "X" "38145743" "38145743" "subst" "0" "00000" "RPGR_000608" "g.38145743C>A" "" "{PMID:Branham-2012:23150612}" "" "c.2509G>T (p.Glu837X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795894" "20" "90" "X" "38145638" "38145638" "subst" "0" "00000" "RPGR_000607" "g.38145638C>A" "" "{PMID:Branham-2012:23150612}" "" "c.2614G>T (p.Glu872X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795895" "20" "90" "X" "38145549" "38145549" "del" "0" "00000" "RPGR_000606" "g.38145549delT" "" "{PMID:Branham-2012:23150612}" "" "c.2703delA (p.Glu903fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795896" "20" "90" "X" "38145359" "38145359" "subst" "0" "00000" "RPGR_000605" "g.38145359C>A" "" "{PMID:Branham-2012:23150612}" "" "c.2893G>T (p.Glu965X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795897" "20" "90" "X" "38145287" "38145287" "subst" "0" "00000" "RPGR_000604" "g.38145287C>A" "" "{PMID:Branham-2012:23150612}" "" "c.2965G>T (p.Glu989X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795898" "20" "90" "X" "38144943" "38144944" "del" "0" "00000" "RPGR_000602" "g.38144943_38144944delAT" "" "{PMID:Branham-2012:23150612}" "" "c.3308_3309delAT (p.Tyr1103fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795899" "0" "90" "X" "38145627" "38145627" "dup" "0" "00000" "RPGR_000221" "g.38145627dupT" "" "{PMID:Churchill-2013:23372056}" "" "c.2625dupA (p.Gly876Argfs*203)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795902" "0" "90" "X" "38146040" "38146040" "subst" "0" "00000" "RPGR_000593" "g.38146040C>A" "" "{PMID:Churchill-2013:23372056}" "" "c.2212G>T (p.Gly738X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795903" "0" "90" "X" "38163957" "38163957" "subst" "0.000124097" "00000" "RPGR_000277" "g.38163957T>C" "" "{PMID:Churchill-2013:23372056}" "" "c.865A>G (p.Ile289Val)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795904" "0" "90" "X" "38182159" "38182159" "subst" "0" "00000" "RPGR_000596" "g.38182159C>T" "" "{PMID:Churchill-2013:23372056}" "" "c.194G>A (p.Gly65Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795905" "0" "90" "X" "38145146" "38145146" "del" "0" "00000" "RPGR_000603" "g.38145146del" "" "{PMID:Churchill-2013:23372056}" "" "c.3106del (p.Glu1036Lysfs*53)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795906" "0" "90" "X" "38145734" "38145735" "del" "0" "00000" "RPGR_000362" "g.38145734_38145735del" "" "{PMID:Churchill-2013:23372056}" "" "c.2517_2518del (p.Glu841Glyfs*237)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795907" "0" "90" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Churchill-2013:23372056}" "" "c.2405_2406del (p.Glu802Glyfs*32)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795908" "0" "90" "X" "38147302" "38147302" "subst" "0" "00000" "RPGR_000243" "g.38147302T>C" "" "{PMID:Churchill-2013:23372056}" "" "c.1573-8A>G (Splicing)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795909" "0" "90" "X" "38182159" "38182159" "subst" "0" "00000" "RPGR_000596" "g.38182159C>T" "" "{PMID:Churchill-2013:23372056}" "" "c.194G>A (p.Gly65Asp)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795910" "0" "90" "X" "38163887" "38163887" "subst" "0" "00000" "RPGR_000616" "g.38163887C>A" "" "{PMID:Churchill-2013:23372056}" "" "c.934+1G>T (Splicing)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795911" "0" "90" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Churchill-2013:23372056}" "" "c.2405_2406del (p.Glu802Glyfs*32)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795912" "0" "90" "X" "38146034" "38146034" "subst" "0" "00000" "RPGR_000386" "g.38146034C>A" "" "{PMID:Churchill-2013:23372056}" "" "c.2218G>T (p.Glu740X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795913" "0" "90" "X" "38180284" "38180293" "del" "0" "00000" "RPGR_000618" "g.38180284_38180293del" "" "{PMID:Churchill-2013:23372056}" "" "c.297_306del (p.Leu100Glnfs*30)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795914" "0" "90" "X" "38145912" "38145912" "del" "0" "00000" "RPGR_000378" "g.38145912del" "" "{PMID:Churchill-2013:23372056}" "" "c.2340del (p.Ala781Argfs*34)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795915" "0" "90" "X" "38156573" "38156574" "del" "0" "00000" "RPGR_000018" "g.38156573_38156574del" "" "{PMID:Churchill-2013:23372056}" "" "c.1377_1378del (p.Leu460Ilefs*2)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795916" "0" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Churchill-2013:23372056}" "" "c.2442_2445del (p.Gly817Lysfs*2)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795917" "0" "90" "X" "38147231" "38147231" "subst" "0" "00000" "RPGR_000614" "g.38147231C>A" "" "{PMID:Churchill-2013:23372056}" "" "c.1636G>T (p.Glu546X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795918" "0" "90" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Churchill-2013:23372056}" "" "c.2405_2406del (p.Glu802Glyfs*32)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795919" "0" "90" "X" "38145488" "38145489" "del" "0" "00000" "RPGR_000214" "g.38145488_38145489del" "" "{PMID:Churchill-2013:23372056}" "" "c.2763_2764del (p.Glu922Glyfs*156)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795920" "0" "90" "X" "38146064" "38146064" "subst" "0" "00000" "RPGR_000610" "g.38146064C>A" "" "{PMID:Churchill-2013:23372056}" "" "c.2188G>T (p.Gly730X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795950" "20" "90" "X" "38146211" "38146214" "del" "0" "00000" "RPGR_000612" "g.38146211_38146214delTGTC" "" "{PMID:Chen-2013:23462753}" "" "c.2038_2041delGACA(p.Asp680Argfs*16)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796277" "20" "90" "X" "38180343" "38180343" "subst" "0" "00000" "RPGR_000619" "g.38180343C>A" "" "{PMID:Wang-2013:23847139}" "" "c.248-1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796641" "0" "70" "X" "38180298" "38180298" "subst" "0" "03779" "RPGR_000628" "g.38180298G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796799" "0" "90" "X" "38146396" "38146399" "dup" "0" "00000" "RPGR_000625" "g.38146396_38146399dup" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1853_1856dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796827" "0" "90" "X" "38150240" "38150240" "subst" "0" "00000" "RPGR_000626" "g.38150240A>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1544T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796871" "20" "90" "X" "38156573" "38156574" "del" "0" "00000" "RPGR_000018" "g.38156573_38156574del" "" "{PMID:Wang-2014:24154662}" "" "c.1377_1378del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796886" "20" "90" "X" "38146094" "38146094" "subst" "0" "00000" "RPGR_000020" "g.38146094G>A" "" "{PMID:Wang-2014:24154662}" "" "c.2158C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796887" "20" "90" "X" "38145893" "38145893" "subst" "0" "00000" "RPGR_000623" "g.38145893C>A" "" "{PMID:Wang-2014:24154662}" "" "c.2359G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796889" "0" "90" "X" "38156575" "38156576" "del" "0" "00000" "RPGR_000019" "g.38156575_38156576del" "" "{PMID:Wang-2014:24154662}" "" "c.1375_1376del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796976" "0" "90" "X" "38178191" "38178191" "dup" "0" "00000" "RPGR_000627" "g.38178191dup" "" "{PMID:Sullivan-2013:23950152}" "" "c.360dupG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796977" "0" "70" "X" "38158210" "38158211" "del" "0" "00000" "RPGR_000170" "g.38158210_38158211del" "" "{PMID:Sullivan-2013:23950152}" "" "c.1243_1244delAG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796978" "0" "70" "X" "38145523" "38150304" "delins" "0" "00000" "RPGR_000622" "g.38145523_38150304delinsN[103]" "" "{PMID:Sullivan-2013:23950152}" "" "c.1507-27_2729delins103" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796979" "0" "70" "X" "38182177" "38182177" "subst" "0" "00000" "RPGR_000000" "g.38182177C>A" "" "{PMID:Sullivan-2013:23950152}" "" "c.176G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796980" "0" "70" "X" "38145943" "38145943" "del" "0" "00000" "RPGR_000624" "g.38145943del" "" "{PMID:Sullivan-2013:23950152}" "" "c.2309delA" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796981" "0" "70" "X" "38145928" "38145929" "del" "0" "00000" "RPGR_000380" "g.38145928_38145929del" "" "{PMID:Sullivan-2013:23950152}" "" "c.2323_2324delAG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796982" "0" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Sullivan-2013:23950152}" "" "c.2405_2406delAG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000797125" "21" "70" "X" "38182778" "38182778" "subst" "0" "00000" "RPGR_000642" "g.38182778C>A" "" "{PMID:Birtel 2018:30543658}" "" "c.29-1G>T, Splice" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38323525C>A" "" "likely pathogenic" "ACMG" "0000797126" "21" "70" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Birtel 2018:30543658}" "" "c.2442_2445delAGAG, p.Gly817Lysfs*2" "Heterozygous" "Germline" "?" "" "0" "" "" "g.38286554_38286557del" "" "likely pathogenic" "ACMG" "0000797127" "21" "70" "X" "38145800" "38145800" "subst" "0" "00000" "RPGR_000634" "g.38145800C>A" "" "{PMID:Birtel 2018:30543658}" "" "c.2452G>T, p.Glu818*" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38286547C>A" "" "likely pathogenic" "ACMG" "0000797128" "21" "70" "X" "38145547" "38145548" "del" "0" "00000" "RPGR_000630" "g.38145547_38145548del" "" "{PMID:Birtel 2018:30543658}" "" "c.2706_2707delGG, p.Glu903Glyfs*175" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38286294_38286295del" "" "likely pathogenic" "ACMG" "0000797129" "21" "70" "X" "38163905" "38163905" "subst" "0" "00000" "RPGR_000639" "g.38163905T>G" "" "{PMID:Birtel 2018:30543658}" "" "c.917A>C, p.His306Pro" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38304652T>G" "" "likely pathogenic" "ACMG" "0000797130" "21" "70" "X" "38145622" "38145622" "del" "0" "00000" "RPGR_000631" "g.38145622del" "" "{PMID:Birtel 2018:30543658}" "" "c.2630delA, p.Glu877Glyfs*212" "Hemizygous" "Germline" "yes" "" "0" "" "" "g.38286369del" "" "likely pathogenic" "ACMG" "0000797131" "21" "70" "X" "38160553" "38160553" "subst" "0" "00000" "RPGR_000638" "g.38160553T>A" "" "{PMID:Birtel 2018:30543658}" "" "c.1006A>T, p.Asn336Tyr" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38301300T>A" "" "likely pathogenic" "ACMG" "0000797132" "21" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Birtel 2018:30543658}" "" "c.2426_2427delAG, p.Glu809Glyfs*25" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "ACMG" "0000797133" "21" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Birtel 2018:30543658}" "" "c.2405_2406delAG, p.Glu802Glyfs*32" "Heterozygous" "Germline" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "ACMG" "0000797134" "21" "70" "X" "38145218" "38145218" "del" "0" "00000" "RPGR_000629" "g.38145218del" "" "{PMID:Birtel 2018:30543658}" "" "c.3034delG, p.Glu1012Lysfs*77" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38285965del" "" "likely pathogenic" "ACMG" "0000797135" "21" "90" "X" "38182159" "38182159" "subst" "0" "00000" "RPGR_000523" "g.38182159C>A" "" "{PMID:Birtel 2018:30543658}" "" "c.194G>T, p.Gly65Val" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38322906C>A" "" "pathogenic" "ACMG" "0000797136" "21" "90" "X" "38145938" "38145939" "delins" "0" "00000" "RPGR_000635" "g.38145938_38145939delinsG" "" "{PMID:Birtel 2018:30543658}" "" "c.2313_2314delinsC, p.Glu771Aspfs*44" "Hemizygous" "Germline" "?" "" "0" "" "" "g.38286685_38286686delinsG" "" "pathogenic" "ACMG" "0000797534" "0" "70" "X" "38145656" "38145656" "del" "0" "00000" "RPGR_000633" "g.38145656del" "" "{PMID:Jespersgaar 2019:30718709}" "" "BEST1 c.904G>A, p.(Asp302Asn), RPGR c.2596del, p.(Glu866Lysfs*223)" "" "Germline" "?" "" "0" "" "" "g.38286403del" "" "likely pathogenic" "ACMG" "0000797824" "0" "70" "X" "38147137" "38147137" "dup" "0" "00000" "RPGR_000636" "g.38147137dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.1731dup, p.(Ala578Serfs*5), CNGB3 c.1578+1G>A, p.(?)" "" "Germline" "?" "" "0" "" "" "g.38287884dup" "" "likely pathogenic" "ACMG" "0000797825" "0" "70" "X" "38158215" "38158218" "del" "0" "00000" "RPGR_000637" "g.38158215_38158218del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.1236_1239del, p.(Glu414Glyfs*10)" "" "Germline" "?" "" "0" "" "" "g.38298962_38298965del" "" "likely pathogenic" "ACMG" "0000797826" "0" "70" "X" "38147297" "38147297" "subst" "0" "00000" "RPGR_000578" "g.38147297G>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.1573-3C>G, p.(?)" "" "Germline" "?" "" "0" "" "" "g.38288044G>C" "" "likely pathogenic" "ACMG" "0000797827" "0" "90" "X" "38180344" "38180344" "subst" "0" "00000" "RPGR_000595" "g.38180344T>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.248-2A>G, p.(?)" "" "Germline" "?" "" "0" "" "" "g.38321091T>C" "" "pathogenic" "ACMG" "0000797828" "0" "70" "X" "38145810" "38145824" "del" "0" "00000" "RPGR_000036" "g.38145810_38145824del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.2447_2461del, p.(Gly816_Glu820del)" "" "Germline" "?" "" "0" "" "" "g.38286557_38286571del" "" "likely pathogenic" "ACMG" "0000797829" "0" "70" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.1234C>T, p.(Arg412*)" "" "Germline" "?" "" "0" "" "" "g.38298967G>A" "" "likely pathogenic" "ACMG" "0000797830" "0" "90" "X" "38186592" "38186592" "subst" "0" "00000" "RPGR_000643" "g.38186592C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.28+1G>C, p.(?)" "" "Germline" "?" "" "0" "" "" "g.38327339C>G" "" "pathogenic" "ACMG" "0000797831" "0" "90" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.2426_2427del, p.(Glu809Glyfs*25)" "" "Germline" "?" "" "0" "" "" "g.38286574_38286575del" "" "pathogenic" "ACMG" "0000797832" "0" "70" "X" "38182199" "38182199" "subst" "0" "00000" "RPGR_000641" "g.38182199C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.155-1G>A, p.(?)" "" "Germline" "?" "" "0" "" "" "g.38322946C>T" "" "likely pathogenic" "ACMG" "0000797833" "0" "70" "X" "38147297" "38147297" "subst" "0" "00000" "RPGR_000578" "g.38147297G>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.1573-3C>G, p.(?)" "" "Germline" "?" "" "0" "" "" "g.38288044G>C" "" "likely pathogenic" "ACMG" "0000797834" "0" "70" "X" "38158215" "38158218" "del" "0" "00000" "RPGR_000637" "g.38158215_38158218del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.1236_1239del, p.(Glu414Glyfs*10)" "" "Germline" "?" "" "0" "" "" "g.38298962_38298965del" "" "likely pathogenic" "ACMG" "0000797835" "0" "70" "X" "38158275" "38158275" "subst" "0" "00000" "RPGR_000580" "g.38158275A>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.1179T>G, p.(Tyr393*)" "" "Germline" "?" "" "0" "" "" "g.38299022A>C" "" "likely pathogenic" "ACMG" "0000797836" "0" "90" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.3092del, p.(Glu1031Glyfs*58)" "" "Germline" "?" "" "0" "" "" "g.38285907del" "" "pathogenic" "ACMG" "0000797837" "0" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.2405_2406del, p.(Glu802Glyfs*32)" "" "Germline" "?" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "ACMG" "0000797838" "0" "70" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.2257_2260del, p.(Gly753Lysfs*61)" "" "Germline" "?" "" "0" "" "" "g.38286743_38286746del" "" "likely pathogenic" "ACMG" "0000797924" "0" "70" "X" "38145810" "38145824" "del" "0" "00000" "RPGR_000036" "g.38145810_38145824del" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.2447_2461del, p.(Gly816_Glu820del)" "" "Germline" "?" "" "0" "" "" "g.38286557_38286571del" "" "likely pathogenic" "ACMG" "0000798080" "0" "70" "X" "38176696" "38176696" "subst" "0" "00000" "RPGR_000640" "g.38176696C>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "RPGR c.492G>T, p.(Trp164Cys), GPR179 c.3361G>T, p.(Glu1121*)" "" "Germline" "?" "" "0" "" "" "g.38317443C>A" "" "likely pathogenic" "ACMG" "0000798169" "0" "50" "X" "38145646" "38145646" "subst" "0" "00000" "RPGR_000632" "g.38145646T>C" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m34: c.2606A>G; p.Glu869Gly" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286393T>C" "" "VUS" "" "0000798434" "0" "70" "X" "38182130" "38182130" "subst" "0.0156032" "00000" "RPGR_000010" "g.38182130T>C" "" "{PMID:Song-2011:22025579}" "" "c.223A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000810335" "0" "30" "X" "38129003" "38129003" "subst" "0.000296934" "02330" "RPGR_000644" "g.38129003A>G" "" "" "" "RPGR(NM_000328.3):c.2324T>C (p.I775T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810336" "0" "10" "X" "38144822" "38144822" "subst" "0.139556" "02327" "RPGR_000074" "g.38144822C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810337" "0" "10" "X" "38144856" "38144856" "subst" "0.164719" "02327" "RPGR_000552" "g.38144856G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810338" "0" "90" "X" "38144941" "38144941" "del" "0" "02327" "RPGR_000465" "g.38144941del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810339" "0" "90" "X" "38145104" "38145105" "del" "0" "02327" "RPGR_000030" "g.38145104_38145105del" "" "" "" "RPGR(NM_001034853.2):c.3150_3151delGG (p.E1051Rfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810340" "0" "30" "X" "38145354" "38145354" "subst" "0" "01943" "RPGR_000645" "g.38145354C>T" "" "" "" "RPGR(NM_001034853.1):c.2898G>A (p.G966=), RPGR(NM_001034853.2):c.2898G>A (p.G966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810341" "0" "10" "X" "38145411" "38145411" "subst" "0" "02327" "RPGR_000646" "g.38145411C>T" "" "" "" "RPGR(NM_001034853.2):c.2841G>A (p.E947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810342" "0" "10" "X" "38145585" "38145587" "del" "0" "02327" "RPGR_000219" "g.38145585_38145587del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810343" "0" "10" "X" "38145911" "38145911" "subst" "0.121374" "02327" "RPGR_000080" "g.38145911C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810344" "0" "50" "X" "38147239" "38147239" "subst" "5.60824E-6" "01943" "RPGR_000647" "g.38147239T>A" "" "" "" "RPGR(NM_001034853.1):c.1628A>T (p.D543V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810345" "0" "30" "X" "38147259" "38147259" "subst" "0.000168376" "02327" "RPGR_000041" "g.38147259T>A" "" "" "" "RPGR(NM_001034853.1):c.1608A>T (p.T536=), RPGR(NM_001034853.2):c.1608A>T (p.T536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810346" "0" "30" "X" "38156584" "38156584" "subst" "0.0084194" "01804" "RPGR_000004" "g.38156584T>C" "" "" "" "RPGR(NM_000328.2):c.1367A>G (p.(Gln456Arg)), RPGR(NM_001034853.1):c.1367A>G (p.Q456R), RPGR(NM_001034853.2):c.1367A>G (p.Q456R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810347" "0" "10" "X" "38158193" "38158193" "subst" "0.124031" "02327" "RPGR_000257" "g.38158193T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810348" "0" "10" "X" "38158290" "38158290" "subst" "0.109585" "02327" "RPGR_000001" "g.38158290C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810349" "0" "10" "X" "38160526" "38160526" "subst" "0.00703357" "02327" "RPGR_000046" "g.38160526T>C" "" "" "" "RPGR(NM_001034853.1):c.1033A>G (p.N345D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810350" "0" "50" "X" "38182738" "38182738" "subst" "0" "01943" "RPGR_000648" "g.38182738G>T" "" "" "" "RPGR(NM_001034853.1):c.68C>A (p.A23D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811911" "0" "70" "X" "38146106" "38146106" "subst" "0" "00000" "RPGR_000393" "g.38146106C>A" "" "{PMID:Hariri 2018:31047384}" "" "c.2146G/T" "" "Germline" "?" "" "0" "" "" "g.38286853C>A" "" "likely pathogenic" "" "0000811912" "0" "70" "X" "38145203" "38145204" "del" "0" "00000" "RPGR_000204" "g.38145203_38145204del" "" "{PMID:Hariri 2018:31047384}" "" "c.3050_3051delAG" "" "Germline" "?" "" "0" "" "" "g.38285950_38285951del" "" "likely pathogenic" "" "0000811913" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Hariri 2018:31047384}" "" "c.2405_2406delAG" "" "Germline" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000811914" "0" "70" "X" "38160494" "38160494" "subst" "0.000423216" "00000" "RPGR_000045" "g.38160494C>T" "" "{PMID:Hariri 2018:31047384}" "" "c.1059+6G/A" "" "Germline" "?" "" "0" "" "" "g.38301241C>T" "" "likely pathogenic" "" "0000812548" "0" "90" "X" "38178199" "38178199" "subst" "0" "00000" "RPGR_000448" "g.38178199G>A" "" "{PMID:Wang 2019:31106028}" "" "c.352G>A, p.(Gln118*)" "error in annotation: c.352G>A instead of C>T, heterozygous" "De novo" "yes" "" "0" "" "" "g.38318946G>A" "" "pathogenic" "" "0000812623" "0" "90" "X" "38176715" "38176715" "del" "0" "00000" "RPGR_000651" "g.38176715del" "" "{PMID:Wang 2019:31106028}" "" "c.473del, p.(Asp158Valfs*17)" "hemizygous" "Germline" "?" "" "0" "" "" "g.38317462del" "" "pathogenic" "" "0000812657" "0" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Wang 2019:31106028}" "" "c.2236_2237del, p.(Glu746Argfs*23)" "heterozygous" "Germline" "?" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000812749" "21" "90" "X" "38176657" "38176657" "dup" "0" "00000" "RPGR_000650" "g.38176657dup" "" "{PMID:Wang 2019:31106028}" "" "c.532dup, p.(Ser178Lysfs*2)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38317404dup" "" "pathogenic" "" "0000812807" "0" "50" "X" "38145132" "38145134" "del" "0" "00000" "RPGR_000077" "g.38145132_38145134del" "" "{PMID:Wang 2019:31106028}" "" "c.3123_3125del, p.(Glu1042del)" "hemizygous" "Germline" "?" "" "0" "" "" "g.38285879_38285881del" "" "VUS" "" "0000812848" "0" "50" "X" "38158385" "38158387" "del" "0" "00000" "RPGR_000649" "g.38158385_38158387del" "" "{PMID:Wang 2019:31106028}" "" "c.1071_1073del, p.(Gly358del)" "heterozygous" "Germline" "?" "" "0" "" "" "g.38299132_38299134del" "" "VUS" "" "0000813011" "0" "70" "X" "38145980" "38145980" "subst" "0" "00000" "RPGR_000165" "g.38145980C>A" "" "{PMID:Ehrenberg 2019:31814694}" "" "RPGR (NM_001034853.1; OMIM: 312610): c.2272G>T; p.Glu758* (hemi) (RP), AVPR2 (NM_000054.5; OMIM: 300538): c.672C>A; p.Cys224* (hemi) (DI), STRC (NM_153700.2; OMIM: 606440) – CATSPER2 (NM_172095.3; OMIM: 607249) del (hom) (H" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38286727C>A" "" "likely pathogenic" "" "0000813662" "20" "90" "X" "38176694" "38176694" "subst" "0" "00000" "RPGR_000293" "g.38176694C>A" "" "{PMID:Xu 2020:31630094}" "" "RPGR NM_001034853: g.10124G>T, c.494G>T, p.G165V" "" "Germline" "yes" "" "0" "" "" "g.38317441C>A" "" "pathogenic" "ACMG" "0000813682" "20" "90" "X" "38147296" "38147296" "subst" "0" "00000" "RPGR_000242" "g.38147296T>C" "" "{PMID:Xu 2020:31630094}" "" "RPGR NM_001034853: g.39522A>G, c.1573-2A>G" "" "Germline" "yes" "" "0" "" "" "g.38288043T>C" "" "pathogenic" "ACMG" "0000813684" "20" "90" "X" "38169866" "38169866" "subst" "0" "00000" "RPGR_000654" "g.38169866A>G" "" "{PMID:Xu 2020:31630094}" "" "RPGR NM_001034853: g.22932T>C, c.778+2T>C" "" "Germline" "yes" "" "0" "" "" "g.38310613A>G" "" "pathogenic" "ACMG" "0000814285" "20" "70" "X" "38145661" "38145661" "dup" "0" "00000" "RPGR_000652" "g.38145661dup" "" "{PMID:Chen 2020:31872526}" "" "RPGR:NM_001034853:exon15:c.2592_2593insA: p.G865Rfs*214" "hemizygous" "Germline" "?" "" "0" "" "" "g.38286408dup" "" "likely pathogenic" "" "0000814286" "20" "70" "X" "38146220" "38146220" "subst" "0" "00000" "RPGR_000653" "g.38146220C>A" "" "{PMID:Chen 2020:31872526}" "" "RPGR:NM_001034853:exon15:c.2032G>T:p.E678X" "hemizygous" "Germline" "?" "" "0" "" "" "g.38286967C>A" "" "likely pathogenic" "" "0000814287" "20" "70" "X" "38156669" "38156669" "subst" "0.000140126" "00000" "RPGR_000531" "g.38156669G>C" "" "{PMID:Chen 2020:31872526}" "" "RPGR:NM_000328:exon11:c.1282C>G:p.L428V" "hemizygous" "Germline" "?" "" "0" "" "" "g.38297416G>C" "" "likely pathogenic" "" "0000814791" "0" "70" "X" "38146246" "38146246" "subst" "0" "00000" "RPGR_000542" "g.38146246C>T" "" "{PMID:Dan 2020:31960602}" "" "RPGR c.2006G>A, p.(Trp669*)" "hemizygous" "De novo" "?" "" "0" "" "" "g.38286993C>T" "" "likely pathogenic" "ACMG" "0000814792" "20" "70" "X" "38145960" "38145960" "del" "0" "00000" "RPGR_000660" "g.38145960del" "" "{PMID:Dan 2020:31960602}" "" "RPGR c.2293del, p.(Glu765Argfs*50)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286707del" "" "likely pathogenic" "ACMG" "0000814793" "0" "70" "X" "38164004" "38164004" "subst" "0" "00000" "RPGR_000662" "g.38164004T>C" "" "{PMID:Dan 2020:31960602}" "" "RPGR c.818A>G, p.(Gln273Arg)" "hemizygous" "De novo" "?" "" "0" "" "" "g.38304751T>C" "" "likely pathogenic" "ACMG" "0000814908" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Cho 2020:32000842}" "" "c.2405_2406del, p.Glu802Glyfs*32" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000814909" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Cho 2020:32000842}" "" "c.2405_2406del, p.Glu802Glyfs*32" "Heterozygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000814910" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Cho 2020:32000842}" "" "c.2405_2406del, p.Glu802Glyfs*32" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000814911" "20" "70" "X" "38146061" "38146061" "del" "0" "00000" "RPGR_000661" "g.38146061del" "" "{PMID:Cho 2020:32000842}" "" "c.2194del, p.Glu732Argfs*83" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286808del" "" "likely pathogenic" "" "0000814912" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Cho 2020:32000842}" "" "c.2426_2427del, p.Glu809Glyfs*25" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000814913" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Cho 2020:32000842}" "" "c.2426_2427del, p.Glu809Glyfs*25" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000814914" "20" "70" "X" "38145226" "38145227" "del" "0" "00000" "RPGR_000323" "g.38145226_38145227del" "" "{PMID:Cho 2020:32000842}" "" "c.3027_3028del, p.Glu1010Glyfs*68" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38285973_38285974del" "" "likely pathogenic" "" "0000814915" "20" "70" "X" "38145776" "38145786" "del" "0" "00000" "RPGR_000658" "g.38145776_38145786del" "" "{PMID:Cho 2020:32000842}" "" "c.2467_2477del, p.Arg826Glyfs*8" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286523_38286533del" "" "likely pathogenic" "" "0000814916" "20" "70" "X" "38145778" "38145781" "del" "0" "00000" "RPGR_000659" "g.38145778_38145781del" "" "{PMID:Cho 2020:32000842}" "" "c.2474_2477del, p.Glu825Glyfs*263" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286525_38286528del" "" "likely pathogenic" "" "0000814917" "20" "70" "X" "38145500" "38145500" "subst" "0" "00000" "RPGR_000656" "g.38145500C>A" "" "{PMID:Cho 2020:32000842}" "" "c.2752G>T, p.Glu918*" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286247C>A" "" "likely pathogenic" "" "0000814918" "20" "70" "X" "38145182" "38145182" "subst" "0" "00000" "RPGR_000655" "g.38145182C>A" "" "{PMID:Cho 2020:32000842}" "" "c.3070G>T, p.Glu1024*" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38285929C>A" "" "likely pathogenic" "" "0000814919" "20" "70" "X" "38145182" "38145182" "subst" "0" "00000" "RPGR_000655" "g.38145182C>A" "" "{PMID:Cho 2020:32000842}" "" "c.3070G>T, p.Glu1024*" "Heterozygous" "Unknown" "?" "" "0" "" "" "g.38285929C>A" "" "likely pathogenic" "" "0000814920" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Cho 2020:32000842}" "" "c.2405_2406del, p.Glu802Glyfs*32" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000814921" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Cho 2020:32000842}" "" "c.2405_2406del, p.Glu802Glyfs*32" "Heterozygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000814922" "20" "70" "X" "38145751" "38145752" "del" "0" "00000" "RPGR_000657" "g.38145751_38145752del" "" "{PMID:Cho 2020:32000842}" "" "c.2501_2502del, p.Glu834Glyfs*244" "Hemizygous" "Unknown" "?" "" "0" "" "" "g.38286498_38286499del" "" "likely pathogenic" "" "0000815295" "20" "90" "X" "38145957" "38145960" "del" "0" "00000" "RPGR_000586" "g.38145957_38145960del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_001034853 c.2296_2299del, p.G766fs" "hemizygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286704_38286707del" "" "pathogenic" "ACMG" "0000815296" "20" "90" "X" "38145957" "38145960" "del" "0" "00000" "RPGR_000586" "g.38145957_38145960del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.2296_2299del; p.(Gly766Asnfs*48)" "hemizygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286704_38286707del" "" "pathogenic" "ACMG" "0000815297" "20" "90" "X" "38145957" "38145960" "del" "0" "00000" "RPGR_000586" "g.38145957_38145960del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.2296_2299del; p.(Gly766Asnfs*48)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286704_38286707del" "" "pathogenic" "ACMG" "0000815298" "20" "90" "X" "38145957" "38145960" "del" "0" "00000" "RPGR_000586" "g.38145957_38145960del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.2296_2299del; p.(Gly766Asnfs*48)" "hemizygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286704_38286707del" "" "pathogenic" "ACMG" "0000815316" "20" "90" "X" "38163911" "38163911" "dup" "0" "00000" "RPGR_000666" "g.38163911dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_001034853 c.914dupA, p.N305fs" "hemizygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38304658dup" "" "pathogenic" "ACMG" "0000815332" "20" "90" "X" "38145507" "38145507" "del" "0" "00000" "RPGR_000663" "g.38145507del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_001034853 c.2746delG, p.E916Kfs*171" "hemizygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286254del" "" "pathogenic" "ACMG" "0000815333" "20" "90" "X" "38145507" "38145507" "del" "0" "00000" "RPGR_000663" "g.38145507del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.2746delG; p.(Glu916Lysfs*173)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286254del" "" "pathogenic" "ACMG" "0000815380" "20" "90" "X" "38145883" "38145901" "del" "0" "00000" "RPGR_000664" "g.38145883_38145901del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_001034853 c.2357_2375del, p.(Lys786Thrfs*23)" "hemizygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286630_38286648del" "" "pathogenic" "ACMG" "0000815381" "20" "90" "X" "38145883" "38145901" "del" "0" "00000" "RPGR_000664" "g.38145883_38145901del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_001034853 c.2357_2375del, p.(Lys786Thrfs*23)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286630_38286648del" "" "pathogenic" "ACMG" "0000815397" "0" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_001034853 c.2442_2445del, p.(Gly817Lysfs*2)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "ACMG" "0000815398" "0" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.2442_2445del; p.(Gly817Lysfs*2)" "hemizygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "ACMG" "0000815399" "0" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.2442_2445del; p.(Gly817Lysfs*2)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "ACMG" "0000815406" "0" "90" "X" "38150645" "38150645" "subst" "0" "00000" "RPGR_000665" "g.38150645C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_000328 c.1506+1G>A, p.?" "hemizygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38291392C>T" "" "pathogenic" "ACMG" "0000815407" "0" "90" "X" "38150645" "38150645" "subst" "0" "00000" "RPGR_000665" "g.38150645C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_000328 c.1506+1G>A, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38291392C>T" "" "pathogenic" "ACMG" "0000815408" "0" "90" "X" "38150645" "38150645" "subst" "0" "00000" "RPGR_000665" "g.38150645C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_000328 c.1506+1G>A, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38291392C>T" "" "pathogenic" "ACMG" "0000815409" "0" "90" "X" "38150645" "38150645" "subst" "0" "00000" "RPGR_000665" "g.38150645C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_000328 c.1506+1G>A, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.38291392C>T" "" "pathogenic" "ACMG" "0000815566" "0" "90" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RPGR:NM_001034853 c.2442_2445del, p.(Gly817Lysfs*2)" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.38286554_38286557del" "" "pathogenic" "ACMG" "0000815929" "0" "90" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.2323_2324del, p.Arg775GlufsTer59" "Located at end of transcript" "Unknown" "?" "" "0" "" "" "g.38286680_38286681del" "" "pathogenic" "" "0000815930" "0" "50" "X" "38182159" "38182159" "subst" "0" "00000" "RPGR_000596" "g.38182159C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.194G>A, p.Gly65Asp" "" "Unknown" "?" "" "0" "" "" "g.38322906C>T" "" "VUS" "" "0000815936" "0" "70" "X" "38147295" "38147295" "subst" "0" "00000" "RPGR_000409" "g.38147295C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.1573-1G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38288042C>T" "" "likely pathogenic" "" "0000815938" "0" "70" "X" "38163887" "38163887" "subst" "0" "00000" "RPGR_000616" "g.38163887C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.934+1G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38304634C>A" "" "likely pathogenic" "" "0000815941" "0" "70" "X" "38128166" "38146857" "del" "0" "00000" "RPGR_000667" "g.38128166_38146857del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR chrX:38128166_38146857del" "range 18690-22081 bp in various techniques, hemizygous" "Unknown" "?" "" "0" "" "" "g.38268913_38287604del" "" "likely pathogenic" "" "0000815976" "0" "70" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.1377_1378del, p.Leu460IlefsTer2" "" "Unknown" "?" "" "0" "" "" "g.38297321_38297322del" "" "likely pathogenic" "" "0000815977" "0" "90" "X" "38145999" "38146002" "del" "0" "00000" "RPGR_000671" "g.38145999_38146002del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.2252_2255del, p.Lys751ArgfsTer63" "Located at end of transcript" "Unknown" "?" "" "0" "" "" "g.38286746_38286749del" "" "pathogenic" "" "0000815983" "0" "90" "X" "38145158" "38145159" "del" "0" "00000" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.3096_3097del, p.Glu1033ArgfsTer45" "Located at end of transcript" "Unknown" "?" "" "0" "" "" "g.38285905_38285906del" "" "pathogenic" "" "0000815984" "0" "70" "X" "38182684" "38182684" "subst" "0" "00000" "RPGR_000676" "g.38182684G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.122C>A, p.Ser41Ter" "" "Unknown" "?" "" "0" "" "" "g.38323431G>T" "" "likely pathogenic" "" "0000815993" "0" "70" "X" "38163953" "38163953" "del" "0" "00000" "RPGR_000276" "g.38163953del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.869del, p.Glu290GlyfsTer8" "" "Unknown" "?" "" "0" "" "" "g.38304700del" "" "likely pathogenic" "" "0000816011" "0" "70" "X" "38158334" "38158334" "subst" "0" "00000" "RPGR_000263" "g.38158334C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.1120G>T, p.Glu374Ter" "" "Unknown" "?" "" "0" "" "" "g.38299081C>A" "" "likely pathogenic" "" "0000816023" "0" "50" "X" "38170002" "38170002" "subst" "0" "00000" "RPGR_000291" "g.38170002C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.644G>A, p.Gly215Glu" "" "Unknown" "?" "" "0" "" "" "g.38310749C>T" "" "VUS" "" "0000816036" "0" "70" "X" "38169863" "38169863" "subst" "5.60994E-6" "00000" "RPGR_000281" "g.38169863C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.778+5G>A" "" "Unknown" "?" "" "0" "" "" "g.38310610C>T" "" "likely pathogenic" "" "0000816045" "0" "70" "X" "38170013" "38170014" "del" "0" "00000" "RPGR_000672" "g.38170013_38170014del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.635_636del, p.Tyr212CysfsTer6" "" "Unknown" "?" "" "0" "" "" "g.38310760_38310761del" "" "likely pathogenic" "" "0000816173" "0" "50" "X" "38163917" "38163917" "subst" "0" "00000" "RPGR_000099" "g.38163917C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.905G>A, p.Cys302Tyr" "" "Unknown" "?" "" "0" "" "" "g.38304664C>T" "" "VUS" "" "0000816188" "0" "90" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.2257_2260del, p.Gly753LysfsTer61" "Located at end of transcript" "Unknown" "?" "" "0" "" "" "g.38286743_38286746del" "" "pathogenic" "" "0000816204" "0" "50" "X" "38176566" "38176566" "subst" "0" "00000" "RPGR_000673" "g.38176566T>A" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.619+3A>T" "" "Unknown" "?" "" "0" "" "" "g.38317313T>A" "" "VUS" "" "0000816208" "0" "70" "X" "38163971" "38163971" "subst" "0" "00000" "RPGR_000155" "g.38163971G>C" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.851C>G, p.Ser284Ter" "" "Unknown" "?" "" "0" "" "" "g.38304718G>C" "" "likely pathogenic" "" "0000816219" "0" "70" "X" "38158334" "38158334" "subst" "0" "00000" "RPGR_000263" "g.38158334C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.1120G>T, p.Glu374Ter" "" "Unknown" "?" "" "0" "" "" "g.38299081C>A" "" "likely pathogenic" "" "0000816220" "0" "70" "X" "38176568" "38176568" "subst" "0" "00000" "RPGR_000674" "g.38176568C>G" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.619+1G>C" "" "Unknown" "?" "" "0" "" "" "g.38317315C>G" "" "likely pathogenic" "" "0000816235" "0" "50" "X" "38182679" "38182679" "subst" "0" "00000" "RPGR_000454" "g.38182679C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "RPGR c.127G>A, p.Gly43Arg" "" "Unknown" "?" "" "0" "" "" "g.38323426C>T" "" "VUS" "" "0000816818" "20" "70" "X" "38182151" "38182151" "subst" "0" "00000" "RPGR_000309" "g.38182151C>T" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.202G>A, p.G68R" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38322898C>T" "" "likely pathogenic" "" "0000816819" "20" "70" "X" "38146061" "38146061" "del" "0" "00000" "RPGR_000661" "g.38146061del" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.2194del, p.E732RfsX83" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38286808del" "" "likely pathogenic" "" "0000816820" "20" "70" "X" "38156644" "38156644" "subst" "0" "00000" "RPGR_000255" "g.38156644C>T" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.1307G>A, p.G436D" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38297391C>T" "" "likely pathogenic" "" "0000816821" "20" "70" "X" "38178097" "38178097" "subst" "0" "00000" "RPGR_000675" "g.38178097A>G" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.454T>C, p.S152P" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38318844A>G" "" "likely pathogenic" "" "0000816822" "20" "70" "X" "38145683" "38145683" "del" "0" "00000" "RPGR_000669" "g.38145683del" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.2571delA, p.(?)" "no protein change annotation, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286430del" "" "likely pathogenic" "" "0000816823" "20" "70" "X" "38160499" "38160501" "del" "0" "00000" "RPGR_000267" "g.38160499_38160501del" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.1059_1059+2delGGT, p.(?)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38301246_38301248del" "" "likely pathogenic" "" "0000816824" "20" "70" "X" "38145226" "38145227" "del" "0" "00000" "RPGR_000323" "g.38145226_38145227del" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.3027_3028del, p.E1010GfsX68" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38285973_38285974del" "" "likely pathogenic" "" "0000816825" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.2426_2427del, p.E809GfsX25" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000816826" "20" "70" "X" "38145286" "38145286" "del" "0" "00000" "RPGR_000668" "g.38145286del" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.2966delA, p.(?)" "no protein change annotation, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286033del" "" "likely pathogenic" "" "0000816827" "20" "70" "X" "38146098" "38146098" "del" "0" "00000" "RPGR_000081" "g.38146098del" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.2155delC, p.H719Ifs" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38286845del" "" "likely pathogenic" "" "0000816828" "20" "70" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Jauregui 2020:32098976}" "" "RPGR c.2323_2324delAG, p.R775Efs" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38286680_38286681del" "" "likely pathogenic" "" "0000817327" "20" "70" "X" "38304664" "38304664" "subst" "0" "00000" "RPGR_000099" "g.38304664C>T" "" "{PMID:Sun 2020:32100970}" "" "RPGR c.905G > A, p.Cys302Tyr, hemizygous" "" "Unknown" "?" "" "0" "" "" "g.38304664C>T" "" "likely pathogenic" "ACMG" "0000817626" "20" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Zanolli 2020:32141364}" "" "RPGR c.2236_2237delGA" "no protein change given, probably hemizygous (gender unknown)" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000817639" "20" "70" "X" "38145800" "38145800" "subst" "0" "00000" "RPGR_000634" "g.38145800C>A" "" "{PMID:Zanolli 2020:32141364}" "" "RPGR c.2452G>T" "no protein change given, probably hemizygous (gender unknown)" "Unknown" "?" "" "0" "" "" "g.38286547C>A" "" "likely pathogenic" "" "0000817693" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Zanolli 2020:32141364}" "" "RPGR c.2426_2427delAG" "no protein change given, probably hemizygous (gender unknown)" "Unknown" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000817694" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Zanolli 2020:32141364}" "" "RPGR c.2426_2427delAG" "no protein change given, probably hemizygous (gender unknown)" "Unknown" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000817695" "20" "70" "X" "38145821" "38145821" "subst" "0" "00000" "RPGR_000670" "g.38145821C>A" "" "{PMID:Zanolli 2020:32141364}" "" "RPGR c.2431G>T" "no protein change given, probably hemizygous (gender unknown)" "Unknown" "?" "" "0" "" "" "g.38286568C>A" "" "likely pathogenic" "" "0000819065" "20" "70" "X" "38145971" "38145971" "del" "0" "00000" "RPGR_000677" "g.38145971del" "" "{PMID:Dineiro 2020:32483926}" "" "RPGR c.2284delG, p.(Glu762Lysfs*53)" "hemizygous" "Germline" "?" "" "0" "" "" "g.38286718del" "" "likely pathogenic" "ACMG" "0000819309" "1" "70" "X" "38146382" "38146383" "del" "0" "00000" "RPGR_000403" "g.38146382_38146383del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.1872_1873del/p.E624Dfs*5" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38287129_38287130del" "" "likely pathogenic" "" "0000819352" "1" "70" "X" "38145780" "38145781" "del" "0" "00000" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2476_2477 del/p.R826Gfs*8" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286527_38286528del" "" "likely pathogenic" "" "0000819407" "1" "70" "X" "38182651" "38182651" "subst" "0" "00000" "RPGR_000311" "g.38182651C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.154+1G>A/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38323398C>T" "" "likely pathogenic" "" "0000819408" "1" "70" "X" "38182651" "38182651" "subst" "0" "00000" "RPGR_000311" "g.38182651C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.154+1G>A/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38323398C>T" "" "likely pathogenic" "" "0000819409" "1" "70" "X" "38182651" "38182651" "subst" "0" "00000" "RPGR_000311" "g.38182651C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.154+1G>A/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38323398C>T" "" "likely pathogenic" "" "0000819416" "1" "70" "X" "38145868" "38145868" "del" "0" "00000" "RPGR_000063" "g.38145868del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2384del/p.E795Gfs*20" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286615del" "" "likely pathogenic" "" "0000819464" "1" "70" "X" "38145174" "38145177" "del" "0" "00000" "RPGR_000681" "g.38145174_38145177del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3077_3080del/p.E1026Gfs*62" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285921_38285924del" "" "likely pathogenic" "" "0000819465" "1" "70" "X" "38145174" "38145177" "del" "0" "00000" "RPGR_000681" "g.38145174_38145177del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3077_3080del/p.E1026Gfs*62" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285921_38285924del" "" "likely pathogenic" "" "0000819466" "1" "70" "X" "38145174" "38145177" "del" "0" "00000" "RPGR_000681" "g.38145174_38145177del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3077_3080del/p.E1026Gfs*62" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285921_38285924del" "" "likely pathogenic" "" "0000819506" "1" "70" "X" "38145904" "38145931" "del" "0" "00000" "RPGR_000695" "g.38145904_38145931del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2321_2348del/p.E774Gfs*32" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286651_38286678del" "" "likely pathogenic" "" "0000819556" "1" "70" "X" "38180291" "38180291" "subst" "0" "00000" "RPGR_000710" "g.38180291A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.299T>C/p.L100P" "possibly solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38321038A>G" "" "likely pathogenic" "" "0000819559" "1" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2405_2406del/p.E802Gfs*32" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000819575" "1" "70" "X" "38145846" "38145849" "del" "0" "00000" "RPGR_000375" "g.38145846_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2403_2406del/p.E802Gfs*12" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286593_38286596del" "" "likely pathogenic" "" "0000819584" "1" "70" "X" "38145709" "38145709" "del" "0" "00000" "RPGR_000361" "g.38145709del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2543del/p.E848Gfs*241" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286456del" "" "likely pathogenic" "" "0000819585" "1" "70" "X" "38145709" "38145709" "del" "0" "00000" "RPGR_000361" "g.38145709del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2543del/p.E848Gfs*241" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286456del" "" "likely pathogenic" "" "0000819595" "1" "70" "X" "38145312" "38145312" "del" "0" "00000" "RPGR_000330" "g.38145312del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2944del/p.E982Kfs*107" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286059del" "" "likely pathogenic" "" "0000819596" "1" "70" "X" "38145312" "38145312" "del" "0" "00000" "RPGR_000330" "g.38145312del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2944del/p.E982Kfs*107" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286059del" "" "likely pathogenic" "" "0000819600" "1" "70" "X" "38146245" "38146245" "subst" "0" "00000" "RPGR_000396" "g.38146245C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2007G>A/p.W669*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286992C>T" "" "likely pathogenic" "" "0000819603" "1" "70" "X" "38145460" "38145460" "del" "0" "00000" "RPGR_000506" "g.38145460del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2792del/p.E931Gfs*158" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286207del" "" "likely pathogenic" "" "0000819607" "1" "70" "X" "38145662" "38145662" "subst" "0" "00000" "RPGR_000356" "g.38145662C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2590G>T/p.E864*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286409C>A" "" "likely pathogenic" "" "0000819613" "1" "70" "X" "38182106" "38182106" "subst" "0" "00000" "RPGR_000712" "g.38182106C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.247G>T/p.A83S" "possibly solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38322853C>A" "" "likely pathogenic" "" "0000819618" "1" "70" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000450" "g.38180279C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.310+1G>A/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38321026C>T" "" "likely pathogenic" "" "0000819619" "1" "70" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000450" "g.38180279C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.310+1G>A/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38321026C>T" "" "likely pathogenic" "" "0000819620" "1" "70" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000450" "g.38180279C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.310+1G>A/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38321026C>T" "" "likely pathogenic" "" "0000819621" "1" "70" "X" "38180279" "38180279" "subst" "0" "00000" "RPGR_000450" "g.38180279C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.310+1G>A/p.?" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38321026C>T" "" "likely pathogenic" "" "0000819627" "1" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2236_2237del/p.E746Rfs*23" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000819628" "1" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2236_2237del/p.E746Rfs*23" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000819634" "1" "70" "X" "38182694" "38182694" "del" "0" "00000" "RPGR_000714" "g.38182694del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.112del/p.V38Yfs*30" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38323441del" "" "likely pathogenic" "" "0000819635" "1" "70" "X" "38182694" "38182694" "del" "0" "00000" "RPGR_000714" "g.38182694del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.112del/p.V38Yfs*30" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38323441del" "" "likely pathogenic" "" "0000819638" "1" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2426_2427del/p.E809Gfs*25" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000819641" "1" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3092del/p.E1031Gfs*58" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000819643" "1" "70" "X" "38145785" "38145785" "subst" "0" "00000" "RPGR_000223" "g.38145785T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2467A>T/p.K823*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286532T>A" "" "likely pathogenic" "" "0000819651" "1" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2405_2406del/p.E802Gfs*32" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000819652" "1" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2405_2406del/p.E802Gfs*32" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000819656" "1" "70" "X" "38178162" "38178162" "subst" "0" "00000" "RPGR_000709" "g.38178162A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.389T>C/p.F130S" "possibly solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38318909A>G" "" "likely pathogenic" "" "0000819661" "1" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2236_2237del/p.E746Rfs*23" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000819662" "1" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2236_2237del/p.E746Rfs*23" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000819666" "1" "70" "X" "38158237" "38158237" "dup" "0" "00000" "RPGR_000704" "g.38158237dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.1217dup/p.S407Ifs*46" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38298984dup" "" "likely pathogenic" "" "0000819670" "1" "70" "X" "38145709" "38145709" "del" "0" "00000" "RPGR_000361" "g.38145709del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2543del/p.E848Gfs*241" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286456del" "" "likely pathogenic" "" "0000819677" "1" "70" "X" "38180294" "38180294" "subst" "0" "00000" "RPGR_000302" "g.38180294G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.296C>A/p.T99N" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38321041G>T" "" "likely pathogenic" "" "0000819688" "1" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2236_2237del/p.E746Rfs*23" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000819698" "1" "70" "X" "38145708" "38145708" "del" "0" "00000" "RPGR_000556" "g.38145708del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2548del/p.E850Kfs*239" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286455del" "" "likely pathogenic" "" "0000819699" "1" "70" "X" "38145708" "38145708" "del" "0" "00000" "RPGR_000556" "g.38145708del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2548del/p.E850Kfs*239" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286455del" "" "likely pathogenic" "" "0000819700" "1" "70" "X" "38145708" "38145708" "del" "0" "00000" "RPGR_000556" "g.38145708del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2548del/p.E850Kfs*239" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286455del" "" "likely pathogenic" "" "0000819701" "1" "70" "X" "38145708" "38145708" "del" "0" "00000" "RPGR_000556" "g.38145708del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2548del/p.E850Kfs*239" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286455del" "" "likely pathogenic" "" "0000819707" "1" "70" "X" "38145337" "38145338" "del" "0" "00000" "RPGR_000207" "g.38145337_38145338del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2916_2917del/p.E973Rfs*105" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286084_38286085del" "" "likely pathogenic" "" "0000819710" "1" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2236_2237del/p.E746Rfs*23" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000819714" "1" "70" "X" "38182651" "38182651" "subst" "0" "00000" "RPGR_000311" "g.38182651C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.154+1G>A/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38323398C>T" "" "likely pathogenic" "" "0000819718" "1" "70" "X" "38145226" "38145227" "del" "0" "00000" "RPGR_000323" "g.38145226_38145227del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3027_3028del/p.E1010Gfs*68" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285973_38285974del" "" "likely pathogenic" "" "0000819719" "1" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2405_2406del/p.E802Gfs*32" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000819720" "1" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2405_2406del/p.E802Gfs*32" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000819728" "1" "70" "X" "38146016" "38146019" "del" "0" "00000" "RPGR_000384" "g.38146016_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2234_2237del/p.R745Lfs*69" "error in annotation, protein change should be p.(Arg745Lysfs*69) and not p.(Arg745Leufs*69), solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286763_38286766del" "" "likely pathogenic" "" "0000819729" "1" "70" "X" "38146016" "38146019" "del" "0" "00000" "RPGR_000384" "g.38146016_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2234_2237del/p.R745Lfs*69" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286763_38286766del" "" "likely pathogenic" "" "0000819734" "1" "70" "X" "38145463" "38145464" "del" "0" "00000" "RPGR_000162" "g.38145463_38145464del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2790_2791del/p.E931Gfs*147" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286210_38286211del" "" "likely pathogenic" "" "0000819737" "1" "70" "X" "38145807" "38145807" "del" "0" "00000" "RPGR_000692" "g.38145807del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2447del/p.G816Efs*4" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286554del" "" "likely pathogenic" "" "0000819738" "1" "70" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2442_2445del/p.G817Kfs*2" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286554_38286557del" "" "likely pathogenic" "" "0000819744" "1" "70" "X" "38145791" "38145791" "subst" "0" "00000" "RPGR_000691" "g.38145791C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2461G>T/p.E821*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286538C>A" "" "likely pathogenic" "" "0000819746" "1" "70" "X" "38145411" "38145411" "del" "0" "00000" "RPGR_000212" "g.38145411del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2845del/p.E949Kfs*140" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286158del" "" "likely pathogenic" "" "0000819747" "1" "70" "X" "38145868" "38145868" "del" "0" "00000" "RPGR_000063" "g.38145868del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2384del/p.E795Gfs*20" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286615del" "" "likely pathogenic" "" "0000819749" "1" "70" "X" "38145523" "38145524" "del" "0" "00000" "RPGR_000217" "g.38145523_38145524del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2730_2731del/p.E911Gfs*167" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286270_38286271del" "" "likely pathogenic" "" "0000819750" "1" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2236_2237del/p.E746Rfs*23" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000819751" "1" "70" "X" "38145652" "38145653" "del" "0" "00000" "RPGR_000355" "g.38145652_38145653del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2601_2602del/p.E868Gfs*210" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286399_38286400del" "" "likely pathogenic" "" "0000819754" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819755" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819758" "1" "70" "X" "38163915" "38163915" "subst" "0" "00000" "RPGR_000706" "g.38163915C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.907G>T/p.G303*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38304662C>A" "" "likely pathogenic" "" "0000819759" "1" "70" "X" "38163915" "38163915" "subst" "0" "00000" "RPGR_000706" "g.38163915C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.907G>T/p.G303*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38304662C>A" "" "likely pathogenic" "" "0000819762" "1" "70" "X" "38145751" "38145751" "del" "0" "00000" "RPGR_000367" "g.38145751del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2501del/p.E834Gfs*255" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286498del" "" "likely pathogenic" "" "0000819763" "1" "70" "X" "38145751" "38145751" "del" "0" "00000" "RPGR_000367" "g.38145751del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2501del/p.E834Gfs*255" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286498del" "" "likely pathogenic" "" "0000819764" "1" "70" "X" "38145751" "38145751" "del" "0" "00000" "RPGR_000367" "g.38145751del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2501del/p.E834Gfs*255" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286498del" "" "likely pathogenic" "" "0000819770" "1" "70" "X" "38145519" "38145519" "del" "0" "00000" "RPGR_000686" "g.38145519del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2735del/p.G912Efs*177" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286266del" "" "likely pathogenic" "" "0000819771" "1" "70" "X" "38145519" "38145519" "del" "0" "00000" "RPGR_000686" "g.38145519del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2735del/p.G912Efs*177" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286266del" "" "likely pathogenic" "" "0000819774" "1" "70" "X" "38160625" "38160625" "subst" "0" "00000" "RPGR_000705" "g.38160625C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.935-1G>T/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38301372C>A" "" "likely pathogenic" "" "0000819775" "1" "70" "X" "38160625" "38160625" "subst" "0" "00000" "RPGR_000705" "g.38160625C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.935-1G>T/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38301372C>A" "" "likely pathogenic" "" "0000819777" "1" "70" "X" "38146203" "38146221" "del" "0" "00000" "RPGR_000700" "g.38146203_38146221del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2038_2056del/p.D680Wfs*11" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286950_38286968del" "" "likely pathogenic" "" "0000819779" "1" "70" "X" "38145842" "38145842" "subst" "0" "00000" "RPGR_000694" "g.38145842T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2410A>T/p.R804*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286589T>A" "" "likely pathogenic" "" "0000819788" "1" "70" "X" "38145909" "38145909" "del" "0" "00000" "RPGR_000130" "g.38145909del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2346del/p.K783Rfs*32" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286656del" "" "likely pathogenic" "" "0000819791" "1" "70" "X" "38160579" "38160579" "subst" "0" "00000" "RPGR_000424" "g.38160579A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.980T>G/p.L327*" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38301326A>C" "" "likely pathogenic" "" "0000819792" "1" "70" "X" "38145203" "38145203" "subst" "0" "00000" "RPGR_000105" "g.38145203C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3049G>T/p.E1017*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285950C>A" "" "likely pathogenic" "" "0000819797" "1" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2405_2406del/p.E802Gfs*32" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000819803" "1" "70" "X" "38144879" "38144879" "subst" "0" "00000" "RPGR_000678" "g.38144879G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3373C>T/p.Q1125*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285626G>A" "" "likely pathogenic" "" "0000819807" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819808" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819809" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819810" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819811" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819812" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819813" "1" "70" "X" "38146087" "38146087" "del" "0" "00000" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2167del/p.R723Efs*92" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "" "0000819814" "1" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2405_2406del/p.E802Gfs*32" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000819815" "1" "70" "X" "38145076" "38145077" "del" "0" "00000" "RPGR_000199" "g.38145076_38145077del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3178_3179del/p.E1060Rfs*18" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285823_38285824del" "" "likely pathogenic" "" "0000819816" "1" "70" "X" "38178172" "38178172" "subst" "0" "00000" "RPGR_000446" "g.38178172T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.379A>G/p.R127G" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38318919T>C" "" "likely pathogenic" "" "0000819818" "1" "70" "X" "38182673" "38182673" "subst" "0" "00000" "RPGR_000713" "g.38182673C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.133G>T/p.E45*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38323420C>A" "" "likely pathogenic" "" "0000819820" "1" "70" "X" "38145647" "38145647" "subst" "0" "00000" "RPGR_000689" "g.38145647C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2605G>T/p.E869*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286394C>A" "" "likely pathogenic" "" "0000819822" "1" "70" "X" "38145463" "38145464" "del" "0" "00000" "RPGR_000162" "g.38145463_38145464del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2790_2791del/p.E931Gfs*147" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286210_38286211del" "" "likely pathogenic" "" "0000819825" "1" "70" "X" "38145780" "38145781" "del" "0" "00000" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2476_2477del/p.R826Gfs*8" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286527_38286528del" "" "likely pathogenic" "" "0000819827" "1" "70" "X" "38146289" "38146289" "dup" "0" "00000" "RPGR_000701" "g.38146289dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.1966dup/p.D656Gfs*5" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38287036dup" "" "likely pathogenic" "" "0000819828" "1" "70" "X" "38146289" "38146289" "dup" "0" "00000" "RPGR_000701" "g.38146289dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.1966dup/p.D656Gfs*5" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38287036dup" "" "likely pathogenic" "" "0000819829" "1" "70" "X" "38146194" "38146194" "dup" "0" "00000" "RPGR_000699" "g.38146194dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2059dup/p.E687Gfs*83" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286941dup" "" "likely pathogenic" "" "0000819830" "1" "70" "X" "38145780" "38145781" "del" "0" "00000" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2476_2477del/p.R826Gfs*8" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286527_38286528del" "" "likely pathogenic" "" "0000819831" "1" "70" "X" "38145836" "38145836" "subst" "0" "00000" "RPGR_000693" "g.38145836C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2416G>T/p.E806*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286583C>A" "" "likely pathogenic" "" "0000819833" "1" "70" "X" "38145411" "38145411" "del" "0" "00000" "RPGR_000212" "g.38145411del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2845del/p.E949Kfs*140" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286158del" "" "likely pathogenic" "" "0000819841" "1" "70" "X" "38146169" "38146169" "subst" "0" "00000" "RPGR_000698" "g.38146169C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2083G>T/p.E695*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286916C>A" "" "likely pathogenic" "" "0000819842" "1" "70" "X" "38182778" "38182778" "subst" "0" "00000" "RPGR_000642" "g.38182778C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.29-1G>T/p.?" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38323525C>A" "" "likely pathogenic" "" "0000819850" "1" "70" "X" "38145463" "38145464" "del" "0" "00000" "RPGR_000162" "g.38145463_38145464del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2790_2791del/p.E931Gfs*147" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286210_38286211del" "" "likely pathogenic" "" "0000819855" "1" "70" "X" "38146111" "38146112" "del" "0" "00000" "RPGR_000696" "g.38146111_38146112del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2143_2144del/p.R715Gfs*54" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286858_38286859del" "" "likely pathogenic" "" "0000819865" "1" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2405_2406del/p.E802Gfs*32" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000819869" "1" "70" "X" "38145729" "38145729" "dup" "0" "00000" "RPGR_000690" "g.38145729dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2527dup/p.E843Gfs*236" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286476dup" "" "likely pathogenic" "" "0000819872" "1" "70" "X" "38145357" "38145357" "dup" "0" "00000" "RPGR_000683" "g.38145357dup" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2899dup/p.E967Gfs*112" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286104dup" "" "likely pathogenic" "" "0000819874" "1" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2236_2237del/p.E746Rfs*23" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000819875" "1" "70" "X" "38176596" "38176596" "subst" "0" "00000" "RPGR_000173" "g.38176596C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.592G>A/p.G198R" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38317343C>T" "" "likely pathogenic" "" "0000819877" "1" "70" "X" "38146503" "38146513" "del" "0" "00000" "RPGR_000702" "g.38146503_38146513del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.1754-15_1754-5del/p.?" "possibly solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38287250_38287260del" "" "likely pathogenic" "" "0000819881" "1" "70" "X" "38176586" "38176586" "subst" "0" "00000" "RPGR_000707" "g.38176586T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.602A>T/p.H201L" "possibly solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38317333T>A" "" "likely pathogenic" "" "0000819883" "1" "70" "X" "38145365" "38145365" "del" "0" "00000" "RPGR_000684" "g.38145365del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2887del/p.E963Kfs*126" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38286112del" "" "likely pathogenic" "" "0000819887" "1" "70" "X" "38145563" "38145563" "subst" "0" "00000" "RPGR_000687" "g.38145563C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2689G>T/p.E897*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286310C>A" "" "likely pathogenic" "" "0000819896" "1" "70" "X" "38146129" "38146129" "subst" "0" "00000" "RPGR_000697" "g.38146129T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2123A>G/p.E708G" "possibly solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286876T>C" "" "likely pathogenic" "" "0000819898" "1" "70" "X" "38145150" "38145151" "del" "0" "00000" "RPGR_000680" "g.38145150_38145151del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3104_3105del/p.E1035Gfs*43" "solved, hemizygous" "Germline" "yes" "" "0" "" "" "g.38285897_38285898del" "" "likely pathogenic" "" "0000819906" "1" "70" "X" "38145204" "38145638" "del" "0" "00000" "RPGR_000682" "g.38145204_38145638del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2622_3056del/p.E875_G1019del" "error in annotation, protein change should be p.(Gly876_Glu1020del) and not p.(Glu875_Gly1019del), solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285951_38286385del" "" "likely pathogenic" "" "0000819909" "1" "70" "X" "38144879" "38144879" "subst" "0" "00000" "RPGR_000678" "g.38144879G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3373C>T/p.Q1125*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285626G>A" "" "likely pathogenic" "" "0000819914" "1" "70" "X" "38145077" "38145077" "del" "0" "00000" "RPGR_000679" "g.38145077del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.3175del/p.R1059Efs*30" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38285824del" "" "likely pathogenic" "" "0000819917" "1" "70" "X" "38145605" "38145605" "subst" "0" "00000" "RPGR_000688" "g.38145605C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.2647G>T/p.G883*" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38286352C>A" "" "likely pathogenic" "" "0000819920" "1" "70" "X" "38180338" "38180338" "del" "0" "00000" "RPGR_000711" "g.38180338del" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.255del/p.K85Nfs*5" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38321085del" "" "likely pathogenic" "" "0000819925" "1" "70" "X" "38180291" "38180291" "subst" "0" "00000" "RPGR_000710" "g.38180291A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.299T>C/p.L100P" "possibly solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38321038A>G" "" "likely pathogenic" "" "0000819930" "1" "70" "X" "38163957" "38163957" "subst" "0.000124097" "00000" "RPGR_000277" "g.38163957T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "RPGR, variant 1: c.865A>G/p.I289V" "solved, hemizygous" "Unknown" "?" "" "0" "" "" "g.38304704T>C" "" "likely pathogenic" "" "0000821383" "20" "70" "X" "38170013" "38170013" "del" "0" "00000" "RPGR_000438" "g.38170013del" "" "{PMID:Turro 2020:32581362}" "" "RPGR c.633delA, p.Tyr212MetfsTer11" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38310760del" "" "likely pathogenic" "" "0000821384" "20" "70" "X" "38144799" "38144799" "subst" "0" "00000" "RPGR_000317" "g.38144799C>A" "" "{PMID:Turro 2020:32581362}" "" "RPGR c.3453G>T, p.Leu1151Phe" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38285546C>A" "" "likely pathogenic" "" "0000821385" "20" "70" "X" "38164046" "38164046" "subst" "0" "00000" "RPGR_000433" "g.38164046G>T" "" "{PMID:Turro 2020:32581362}" "" "RPGR c.779-3C>A," "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38304793G>T" "" "likely pathogenic" "" "0000821386" "0" "70" "X" "38146358" "38146361" "del" "0" "00000" "RPGR_000402" "g.38146358_38146361del" "" "{PMID:Turro 2020:32581362}" "" "RPGR c.1894_1897delGACA, p.Asp632LysfsTer4" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38287105_38287108del" "" "likely pathogenic" "" "0000821387" "20" "70" "X" "38156559" "38156559" "del" "0" "00000" "RPGR_000414" "g.38156559del" "" "{PMID:Turro 2020:32581362}" "" "RPGR c.1393delC, p.Leu465SerfsTer11" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38297306del" "" "likely pathogenic" "" "0000821388" "20" "70" "X" "38158217" "38158217" "subst" "0" "00000" "RPGR_000419" "g.38158217T>A" "" "{PMID:Turro 2020:32581362}" "" "RPGR c.1237A>T, p.Arg413Ter" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38298964T>A" "" "likely pathogenic" "" "0000821389" "20" "90" "X" "38156582" "38156583" "del" "0" "00000" "RPGR_000415" "g.38156582_38156583del" "" "{PMID:Turro 2020:32581362}" "" "RPGR c.1372_1373delAG, p.Ser458CysfsTer4" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38297329_38297330del" "" "pathogenic" "" "0000821390" "20" "70" "X" "38150723" "38150723" "subst" "0" "00000" "RPGR_000413" "g.38150723C>A" "" "{PMID:Turro 2020:32581362}" "" "RPGR c.1429G>T, p.Glu477Ter" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38291470C>A" "" "likely pathogenic" "" "0000822147" "20" "90" "X" "38178082" "38182777" "del" "0" "00000" "RPGR_000708" "g.38178082_38182777del" "" "{PMID:Khateb-2016:27208209}" "" "c.29_469del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000822148" "20" "90" "X" "38156537" "38180342" "del" "0" "00000" "RPGR_000703" "g.38156537_38180342del" "" "{PMID:Khateb-2016:27208209}" "" "c.248_1414del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000822213" "1" "70" "X" "38145825" "38145826" "del" "0" "00000" "RPGR_000164" "g.38145825_38145826del" "" "{PMID:Maggi_2021:33546218}" "" "c.2426_2427del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822296" "0" "70" "X" "38145665" "38145666" "del" "0" "00000" "RPGR_000357" "g.38145665_38145666del" "" "{PMID:Maggi_2021:33546218}" "" "c.2586_2587del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822297" "1" "70" "X" "38146235" "38146244" "del" "0" "00000" "RPGR_000497" "g.38146235_38146244del" "" "{PMID:Maggi_2021:33546218}" "" "c.2008_2017del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822313" "0" "70" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Maggi_2021:33546218}" "" "c.2236_2237del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822328" "0" "70" "X" "38145414" "38145433" "dup" "0" "00000" "RPGR_000685" "g.38145414_38145433dup" "" "{PMID:Maggi_2021:33546218}" "" "c.2819_2838dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822742" "0" "70" "X" "38145800" "38145800" "subst" "0" "00000" "RPGR_000634" "g.38145800C>A" "" "{PMID:Gliem 2020:32646556}" "" "RPGR c.2452G>T, p.Glu818*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38286547C>A" "" "likely pathogenic" "" "0000822743" "20" "70" "X" "38144794" "38144794" "subst" "0" "00000" "RPGR_000458" "g.38144794T>G" "" "{PMID:Gliem 2020:32646556}" "" "RPGR c.3458A>C, p.*1153Serext*38" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38285541T>G" "" "likely pathogenic" "" "0000822744" "0" "70" "X" "38182778" "38182778" "subst" "0" "00000" "RPGR_000642" "g.38182778C>A" "" "{PMID:Gliem 2020:32646556}" "" "RPGR c.29-1G>T, splice site" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38323525C>A" "" "likely pathogenic" "" "0000822768" "20" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Koyanagi 2020:32749464}" "" "RPGR p.(Glu746fs)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000822776" "20" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Koyanagi 2020:32749464}" "" "RPGR p.(Glu746fs)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000822778" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Koyanagi 2020:32749464}" "" "RPGR p.(Glu802fs)" "only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000822784" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RPGR p.(Thr575fs)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822808" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Koyanagi 2020:32749464}" "" "RPGR p.(Gly718fs)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822824" "20" "70" "X" "38186588" "38186588" "subst" "0" "00000" "RPGR_000104" "g.38186588C>T" "" "{PMID:Koyanagi 2020:32749464}" "" "RPGR p.(?)" "only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); hemizygous" "Unknown" "?" "" "0" "" "" "g.38327335C>T" "" "likely pathogenic" "" "0000823214" "20" "90" "X" "38176638" "38176638" "subst" "0" "00000" "RPGR_000717" "g.38176638G>A" "" "{PMID:Hull 2020:32856788}" "" "RPGR nucleotide 1, protein 1:c.550C>T, p.Gln184*" "hemizygous, ACMG classified, novel (Table 2)" "Germline" "yes" "" "0" "" "" "g.38317385G>A" "" "pathogenic" "ACMG" "0000823215" "20" "90" "X" "38176591" "38176591" "subst" "0" "00000" "RPGR_000716" "g.38176591A>C" "" "{PMID:Hull 2020:32856788}" "" "RPGR nucleotide 1, protein 1:c.597T>G, p.Tyr199*" "hemizygous, ACMG classified, novel (Table 2)" "Germline" "yes" "" "0" "" "" "g.38317338A>C" "" "pathogenic" "ACMG" "0000823216" "20" "50" "X" "38176564" "38176564" "subst" "0" "00000" "RPGR_000195" "g.38176564C>T" "" "{PMID:Hull 2020:32856788}" "" "RPGR nucleotide 1, protein 1:c.619+5G>A, p.? nucleotide 2, protein 2:," "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "yes" "" "0" "" "" "g.38317311C>T" "" "VUS" "" "0000823217" "20" "50" "X" "38176564" "38176564" "subst" "0" "00000" "RPGR_000195" "g.38176564C>T" "" "{PMID:Hull 2020:32856788}" "" "RPGR nucleotide 1, protein 1:c.619+5G>A, p.? nucleotide 2, protein 2:," "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "yes" "" "0" "" "" "g.38317311C>T" "" "VUS" "" "0000823218" "20" "90" "X" "38156573" "38156573" "del" "0" "00000" "RPGR_000715" "g.38156573del" "" "{PMID:Hull 2020:32856788}" "" "RPGR nucleotide 1, protein 1:c.1379delT, p.Leu460Tyrfs*16 nucleotide 2, protein 2:," "hemizygous, ACMG classified, novel (Table 2)" "Germline" "yes" "" "0" "" "" "g.38297320del" "" "pathogenic" "ACMG" "0000823219" "20" "50" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Hull 2020:32856788}" "" "RPGR nucleotide 1, protein 1:c.2236_2237delGA, p.Glu746Argfs*23 nucleotide 2, protein 2:," "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "VUS" "" "0000824108" "0" "90" "X" "38182104" "38182104" "subst" "0" "00000" "RPGR_000718" "g.38182104A>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "RPGR c.247+2T>A, p.?" "" "Germline" "yes" "" "0" "" "" "g.38322851A>T" "" "pathogenic" "ACMG" "0000824109" "21" "90" "X" "38182104" "38182104" "subst" "0" "00000" "RPGR_000718" "g.38182104A>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "RPGR c.247+2T>A, p.?" "" "Germline" "yes" "" "0" "" "" "g.38322851A>T" "" "pathogenic" "ACMG" "0000824110" "21" "90" "X" "38182104" "38182104" "subst" "0" "00000" "RPGR_000718" "g.38182104A>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "RPGR c.247+2T>A, p.?" "" "Germline" "yes" "" "0" "" "" "g.38322851A>T" "" "pathogenic" "ACMG" "0000824146" "0" "90" "X" "38182104" "38182104" "subst" "0" "00000" "RPGR_000718" "g.38182104A>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "RPGR c.247+2T>A, p.?" "" "Germline" "yes" "" "0" "" "" "g.38322851A>T" "" "pathogenic" "ACMG" "0000824147" "21" "90" "X" "38182104" "38182104" "subst" "0" "00000" "RPGR_000718" "g.38182104A>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "RPGR c.247+2T>A, p.?" "" "Germline" "yes" "" "0" "" "" "g.38322851A>T" "" "pathogenic" "ACMG" "0000824148" "21" "90" "X" "38182104" "38182104" "subst" "0" "00000" "RPGR_000718" "g.38182104A>T" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "RPGR c.247+2T>A, p.?" "" "Germline" "yes" "" "0" "" "" "g.38322851A>T" "" "pathogenic" "ACMG" "0000824351" "0" "90" "X" "38147172" "38147173" "del" "0" "00000" "RPGR_000719" "g.38147172_38147173del" "" "{PMID:Xiao-2021:33598457}" "" "RPGR c.1694_1695delAA, p.(Q565Rfs*17)" "" "Unknown" "yes" "" "0" "" "" "g.38287919_38287920del" "" "pathogenic" "ACMG" "0000824402" "0" "90" "X" "38180306" "38180306" "subst" "0" "00000" "RPGR_000478" "g.38180306C>T" "" "{PMID:Xiao-2021:33598457}" "" "RPGR c.284G>A, p.(G95E)" "" "Unknown" "yes" "" "0" "" "" "g.38321053C>T" "" "pathogenic" "ACMG" "0000824403" "0" "90" "X" "38163918" "38163918" "subst" "0" "00000" "RPGR_000272" "g.38163918A>G" "" "{PMID:Xiao-2021:33598457}" "" "RPGR c.904T>C, p.(C302R)" "" "Unknown" "yes" "" "0" "" "" "g.38304665A>G" "" "pathogenic" "ACMG" "0000824408" "0" "90" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Xiao-2021:33598457}" "" "RPGR c.3092delA, p.(E1031Gfs*58)" "" "Unknown" "yes" "" "0" "" "" "g.38285907del" "" "pathogenic" "ACMG" "0000824700" "3" "50" "X" "38158378" "38158378" "dup" "0" "00000" "RPGR_000720" "g.38158378dup" "" "{PMID:Ma 2021:33691693}" "" "RPGR c.1076dupG, p.C359fs" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.38299125dup" "" "VUS" "ACMG" "0000824701" "20" "50" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Ma 2021:33691693}" "" "RPGR c.C1234T, p.R412X" "marked as causative, hemizygous" "Unknown" "?" "" "0" "" "" "g.38298967G>A" "" "VUS" "ACMG" "0000825565" "0" "50" "X" "38146195" "38146195" "subst" "0.00412313" "00000" "RPGR_000038" "g.38146195A>T" "" "{PMID:Ng 2021:33846575}" "" "RPGR c.2057T>A, p.M686K" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.38286942A>T" "" "VUS" "" "0000825566" "0" "50" "X" "38146195" "38146195" "subst" "0.00412313" "00000" "RPGR_000038" "g.38146195A>T" "" "{PMID:Ng 2021:33846575}" "" "RPGR c.2057T>A, p.M686K" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.38286942A>T" "" "VUS" "" "0000825567" "0" "50" "X" "38160613" "38160613" "subst" "0" "00000" "RPGR_000737" "g.38160613T>A" "" "{PMID:Ng 2021:33846575}" "" "RPGR c.946A>T, p.M316L" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.38301360T>A" "" "VUS" "" "0000825568" "0" "50" "X" "38146195" "38146195" "subst" "0.00412313" "00000" "RPGR_000038" "g.38146195A>T" "" "{PMID:Ng 2021:33846575}" "" "RPGR c.2057T>A, p.M686K" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.38286942A>T" "" "VUS" "" "0000825569" "0" "50" "X" "38145105" "38145105" "del" "0" "00000" "RPGR_000721" "g.38145105del" "" "{PMID:Ng 2021:33846575}" "" "RPGR c.3147delG, p.E1049Efs*38" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.38285852del" "" "VUS" "" "0000825570" "0" "50" "X" "38146195" "38146195" "subst" "0.00412313" "00000" "RPGR_000038" "g.38146195A>T" "" "{PMID:Ng 2021:33846575}" "" "RPGR c.2057T>A, p.M686K" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.38286942A>T" "" "VUS" "" "0000825666" "0" "70" "X" "38176581" "38176581" "subst" "0" "00000" "RPGR_000740" "g.38176581C>G" "" "{PMID:Liu-2020:33090715}" "" "c.607G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825674" "20" "70" "X" "38145849" "38145850" "del" "0" "00000" "RPGR_000726" "g.38145849_38145850del" "" "{PMID:Liu-2020:33090715}" "" "c.2402_2403delCA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825681" "20" "70" "X" "38145825" "38145826" "del" "0" "00000" "RPGR_000164" "g.38145825_38145826del" "" "{PMID:Liu-2020:33090715}" "" "c.2426_2427delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825712" "20" "70" "X" "38180277" "38180277" "subst" "0" "00000" "RPGR_000301" "g.38180277T>C" "" "{PMID:Liu-2020:33090715}" "" "c.310+3A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825773" "20" "70" "X" "38182779" "38182779" "subst" "0" "00000" "RPGR_000601" "g.38182779T>A" "" "{PMID:Liu-2020:33090715}" "" "c.29-2A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825775" "20" "70" "X" "38145251" "38145251" "subst" "0" "00000" "RPGR_000722" "g.38145251C>A" "" "{PMID:Liu-2020:33090715}" "" "c.3001G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825776" "20" "70" "X" "38150243" "38150243" "subst" "0" "00000" "RPGR_000735" "g.38150243G>C" "" "{PMID:Liu-2020:33090715}" "" "c.1541C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825784" "20" "70" "X" "38145557" "38145557" "subst" "0" "00000" "RPGR_000597" "g.38145557C>A" "" "{PMID:Liu-2020:33090715}" "" "c.2695G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825792" "20" "70" "X" "38156552" "38156552" "subst" "0" "00000" "RPGR_000253" "g.38156552G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1399C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825803" "20" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Liu-2020:33090715}" "" "c.2405_2406delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825816" "20" "70" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Liu-2020:33090715}" "" "c.2236_2237delGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825827" "20" "70" "X" "38156606" "38156606" "subst" "0" "00000" "RPGR_000132" "g.38156606G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1345C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825829" "20" "70" "X" "38146084" "38146088" "del" "0" "00000" "RPGR_000731" "g.38146084_38146088del" "" "{PMID:Liu-2020:33090715}" "" "c.2164_2468delGAAAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825867" "20" "70" "X" "38146501" "38146501" "subst" "0" "00000" "RPGR_000599" "g.38146501G>C" "" "{PMID:Liu-2020:33090715}" "" "c.1754-3C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825888" "20" "70" "X" "38178178" "38178178" "subst" "0" "00000" "RPGR_000600" "g.38178178C>A" "" "{PMID:Liu-2020:33090715}" "" "c.373G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825931" "20" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Liu-2020:33090715}" "" "c.2403_2404delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825958" "20" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Liu-2020:33090715}" "" "c.2403_2404delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825986" "20" "70" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Liu-2020:33090715}" "" "c.2442_2445delAGAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825990" "20" "70" "X" "38145746" "38145746" "subst" "0" "00000" "RPGR_000725" "g.38145746C>A" "" "{PMID:Liu-2020:33090715}" "" "c.2506G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000825995" "20" "70" "X" "38147173" "38147174" "del" "0" "00000" "RPGR_000733" "g.38147173_38147174del" "" "{PMID:Liu-2020:33090715}" "" "c.1693_1694delCA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826076" "20" "70" "X" "38145353" "38145353" "dup" "0" "00000" "RPGR_000683" "g.38145353dup" "" "{PMID:Liu-2020:33090715}" "" "c.2894_2895insG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826096" "20" "70" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Liu-2020:33090715}" "" "c.2236_2237delGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826108" "20" "70" "X" "38145761" "38145761" "subst" "0" "00000" "RPGR_000370" "g.38145761C>A" "" "{PMID:Liu-2020:33090715}" "" "c.2491G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826128" "20" "70" "X" "38146107" "38146108" "ins" "0" "00000" "RPGR_000732" "g.38146107_38146108insCTCAG" "" "{PMID:Liu-2020:33090715}" "" "c.2144_2145insCTGAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826135" "20" "70" "X" "38148253" "38148253" "del" "0" "00000" "RPGR_000734" "g.38148253delTC" "" "{PMID:Liu-2020:33090715}" "" "c.2236-2237delGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826138" "20" "70" "X" "38145551" "38145551" "del" "0" "00000" "RPGR_000724" "g.38145551del" "" "{PMID:Liu-2020:33090715}" "" "c.2701delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826143" "20" "70" "X" "38145977" "38145977" "subst" "0" "00000" "RPGR_000729" "g.38145977C>A" "" "{PMID:Liu-2020:33090715}" "" "c.2275G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826156" "20" "70" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Liu-2020:33090715}" "" "c.2233_2234delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826157" "20" "70" "X" "38145315" "38145319" "del" "0" "00000" "RPGR_000723" "g.38145315_38145319del" "" "{PMID:Liu-2020:33090715}" "" "c.2932_2936delGAAGG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826171" "20" "70" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Liu-2020:33090715}" "" "c.2236_2237delGA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826173" "20" "70" "X" "38178216" "38178216" "subst" "0" "00000" "RPGR_000741" "g.38178216C>T" "" "{PMID:Liu-2020:33090715}" "" "c.335G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826196" "20" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Liu-2020:33090715}" "" "c.2405_2406delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826200" "20" "70" "X" "38176567" "38176567" "subst" "0" "00000" "RPGR_000739" "g.38176567A>T" "" "{PMID:Liu-2020:33090715}" "" "c.619+2T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826248" "20" "70" "X" "38146066" "38146079" "del" "0" "00000" "RPGR_000730" "g.38146066_38146079del" "" "{PMID:Liu-2020:33090715}" "" "c.2173_2186del14bp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826280" "20" "70" "X" "38145452" "38145452" "subst" "0" "00000" "RPGR_000340" "g.38145452C>A" "" "{PMID:Liu-2020:33090715}" "" "c.2800G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826334" "20" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Liu-2020:33090715}" "" "c.2405_2406delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826343" "20" "70" "X" "38145746" "38145746" "del" "0" "00000" "RPGR_000228" "g.38145746del" "" "{PMID:Liu-2020:33090715}" "" "c.2506delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826346" "20" "70" "X" "38145521" "38145522" "del" "0" "00000" "RPGR_000217" "g.38145521_38145522del" "" "{PMID:Liu-2020:33090715}" "" "c.2730_2731delGG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000826347" "20" "70" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Liu-2020:33090715}" "" "c.2405_2406delAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000827577" "0" "90" "X" "38182704" "38182705" "ins" "0" "00000" "RPGR_000743" "g.38182704_38182705insT" "" "{PMID:Colombo-2020:33576794}" "" "c.101_102insA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000827578" "20" "90" "X" "38182652" "38182652" "subst" "0" "00000" "RPGR_000103" "g.38182652C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.154G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000827579" "20" "50" "X" "38180291" "38180291" "subst" "0" "00000" "RPGR_000710" "g.38180291A>G" "" "{PMID:Colombo-2020:33576794}" "" "c.299T>C" "" "Germline" "" "rs1064797366" "0" "" "" "" "" "VUS" "" "0000827580" "20" "90" "X" "38180343" "38180343" "subst" "0" "00000" "RPGR_000742" "g.38180343C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.248-1G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000827581" "0" "70" "X" "38178108" "38178108" "subst" "0" "00000" "RPGR_000539" "g.38178108C>A" "" "{PMID:Colombo-2020:33576794}" "" "c.443G>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000827582" "20" "90" "X" "38169907" "38169907" "delins" "0" "00000" "RPGR_000738" "g.38169907delinsTT" "" "{PMID:Colombo-2020:33576794}" "" "c.739delinsAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827583" "20" "70" "X" "38169894" "38169894" "subst" "0" "00000" "RPGR_000156" "g.38169894C>A" "" "{PMID:Colombo-2020:33576794}" "" "c.752G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000827584" "20" "90" "X" "38163887" "38163887" "subst" "0" "00000" "RPGR_000271" "g.38163887C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.934+1G>C" "" "Germline" "" "rs62640592" "0" "" "" "" "" "pathogenic" "" "0000827585" "20" "90" "X" "38150675" "38150679" "del" "0" "00000" "RPGR_000736" "g.38150675_38150679del" "" "{PMID:Colombo-2020:33576794}" "" "c.1473_1477del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000827586" "20" "70" "X" "38146285" "38146285" "del" "0" "00000" "RPGR_000537" "g.38146285del" "" "{PMID:Colombo-2020:33576794}" "" "c.1967del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000827587" "20" "90" "X" "38146229" "38146229" "subst" "0" "00000" "RPGR_000167" "g.38146229C>A" "" "{PMID:Colombo-2020:33576794}" "" "c.2023G>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000827588" "0" "90" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Colombo-2020:33576794}" "" "c.2236_2237del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827589" "20" "90" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Colombo-2020:33576794}" "" "c.2236_2237del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000827590" "20" "90" "X" "38145992" "38145995" "del" "0" "00000" "RPGR_000233" "g.38145992_38145995del" "" "{PMID:Colombo-2020:33576794}" "" "c.2257_2260del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827591" "20" "90" "X" "38145992" "38145995" "del" "0" "00000" "RPGR_000233" "g.38145992_38145995del" "" "{PMID:Colombo-2020:33576794}" "" "c.2257_2260del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000827592" "20" "70" "X" "38145941" "38145941" "del" "0" "00000" "RPGR_000728" "g.38145941del" "" "{PMID:Colombo-2020:33576794}" "" "c.2311del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000827593" "20" "70" "X" "38145941" "38145941" "del" "0" "00000" "RPGR_000728" "g.38145941del" "" "{PMID:Colombo-2020:33576794}" "" "c.2311del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000827594" "20" "90" "X" "38145881" "38145912" "dup" "0" "00000" "RPGR_000727" "g.38145881_38145912dup" "" "{PMID:Colombo-2020:33576794}" "" "c.2340_2371dup" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000827595" "20" "90" "X" "38145846" "38145847" "del" "0" "00000" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Colombo-2020:33576794}" "" "c.2405_2406del" "" "Germline" "yes" "rs398122960" "0" "" "" "" "" "pathogenic" "" "0000828550" "21" "70" "X" "38178172" "38178172" "subst" "0" "00000" "RPGR_000446" "g.38178172T>C" "" "{PMID:Perea-Romero 2021:34448047}" "" "RPGR, c.379A>G, p.Arg127Gly, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.38318919T>C" "" "likely pathogenic" "ACMG" "0000828840" "20" "90" "X" "38145092" "38145092" "subst" "0" "00000" "RPGR_000467" "g.38145092C>A" "" "{PMID:Chen 2021:43360855}" "" "RPGR c.[3160G>T];[0], V1: c.3160G>T, (p.Glu1054Ter)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38285839C>A" "" "pathogenic" "ACMG" "0000828854" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Chen 2021:43360855}" "" "RPGR c.[2405_2406del];[0], V1: c.2405_2406delAG, (p.Glu802GlyfsTer32)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "ACMG" "0000828855" "20" "90" "X" "38176574" "38176574" "dup" "0" "00000" "RPGR_000747" "g.38176574dup" "" "{PMID:Chen 2021:43360855}" "" "RPGR c.[614dup];[0], V1: c.614dupT, (p.Thr206AsnfsTer5)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38317321dup" "" "pathogenic" "ACMG" "0000828883" "20" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Chen 2021:43360855}" "" "RPGR c.[2236_2237del];[0], V1: c.2236_2237delGA, (p.Glu746ArgfsTer23)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "ACMG" "0000828884" "0" "70" "X" "38146014" "38146015" "del" "0" "00000" "RAPSN_000002" "g.38146014_38146015del" "" "{PMID:Chen 2021:43360855}" "" "RPGR c.[2237_2238del];[2237_2238=], V1: c.2237_2238delAA, (p.Glu746GlyfsTer23)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.38286761_38286762del" "" "likely pathogenic" "ACMG" "0000828895" "20" "90" "X" "38145827" "38145827" "subst" "0" "00000" "RPGR_000744" "g.38145827C>A" "" "{PMID:Chen 2021:43360855}" "" "RPGR c.[2425G>T];[0], V1: c.2425G>T, (p.Glu809Ter)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38286574C>A" "" "pathogenic" "ACMG" "0000828920" "20" "70" "X" "38146261" "38146261" "subst" "0" "00000" "RPGR_000745" "g.38146261G>C" "" "{PMID:Chen 2021:43360855}" "" "RPGR c.[1991C>G];[0], V1: c.1991C>G, (p.Ser664Ter)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38287008G>C" "" "likely pathogenic" "ACMG" "0000828928" "20" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Chen 2021:43360855}" "" "RPGR c.[2405_2406del];[0], V1: c.2405_2406delAG, (p.Glu802GlyfsTer32)" "hemizygous" "Unknown" "?" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "ACMG" "0000829044" "0" "70" "X" "38158211" "38158215" "del" "0" "00000" "RPGR_000746" "g.38158211_38158215del" "" "{PMID:Georgiou 2021:32795431}" "" "RPGR c.1239_1243delAGAGA, p.(Glu414Glyfs*37)" "" "Unknown" "?" "" "0" "" "" "g.38298958_38298962del" "" "likely pathogenic" "" "0000829045" "0" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Georgiou 2021:32795431}" "" "RPGR c.3092delA, p.(Glu1031Glyfs*58)" "" "Unknown" "?" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000829046" "0" "70" "X" "38176705" "38176706" "del" "0" "00000" "RPGR_000069" "g.38176705_38176706del" "" "{PMID:Georgiou 2021:32795431}" "" "RPGR c.485_486delTT, p.Phe162Tyrfs*4" "" "Unknown" "?" "" "0" "" "" "g.38317452_38317453del" "" "likely pathogenic" "" "0000829714" "1" "90" "X" "38146324" "38146324" "subst" "0" "00006" "RPGR_000237" "g.38146324G>C" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.38287071G>C" "" "pathogenic" "" "0000829799" "20" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Dockery 2017:29099798}" "" "RPGR c.2236_2237delGA, p.Glu746fs" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees," "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000829854" "20" "90" "X" "38164029" "38164029" "dup" "0" "00000" "RPGR_000750" "g.38164029dup" "" "{PMID:Numa-2020:33247286}" "" "c.793dupA:p.T265fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829855" "20" "90" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Numa-2020:33247286}" "" "c.2236_2237del:p.746_746del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829860" "20" "90" "X" "38147202" "38147202" "del" "0" "00000" "RPGR_000749" "g.38147202del" "" "{PMID:Numa-2020:33247286}" "" "c.1665delA:p.E555fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829864" "20" "90" "X" "38169882" "38169882" "subst" "0" "00000" "RPGR_000100" "g.38169882G>A" "" "{PMID:Numa-2020:33247286}" "" "c.764C>T:p.T255I" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829897" "20" "90" "X" "38146015" "38146016" "del" "0" "00000" "RPGR_000064" "g.38146015_38146016del" "" "{PMID:Numa-2020:33247286}" "" "c.2236_2237del:p.746_746del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829932" "20" "90" "X" "38145895" "38145902" "dup" "0" "00000" "RPGR_000748" "g.38145895_38145902dup" "" "{PMID:Numa-2020:33247286}" "" "c.2357_2358insGAGGAGAA:p.K786fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829952" "20" "90" "X" "38145545" "38145546" "del" "0" "00000" "RPGR_000630" "g.38145545_38145546del" "" "{PMID:Numa-2020:33247286}" "" "c.2706_2707del:p.902_903del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000831090" "20" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Cideciyan 2007:17554762}" "" "RPGR c.2236_2237delGA, p.E746fs; (g.ORF151483_484delGA), (p.ORF15E161fs)" "" "Germline" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000831091" "20" "70" "X" "38145992" "38145992" "subst" "0" "00000" "RPGR_000232" "g.38145992C>A" "" "{PMID:Cideciyan 2007:17554762}" "" "RPGR c.2260G>T, p.E754X; (g.ORF151507G4T), (p.ORF151E169X)" "" "Germline" "?" "" "0" "" "" "g.38286739C>A" "" "likely pathogenic" "" "0000840245" "21" "30" "X" "38158291" "38158291" "subst" "0.000240911" "00000" "RPGR_000751" "g.38158291G>A" "" "{PMID:Men-2017:29062221}" "" "c.1163C>T" "" "Germline" "" "rs199661899" "0" "" "" "" "" "likely benign" "" "0000841521" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "0/600 controls" "{PMID:Wutz 2002:12111638}" "" "V36F*" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000846777" "3" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E746fs" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000846778" "3" "70" "X" "38145846" "38145849" "del" "0" "00000" "RPGR_000375" "g.38145846_38145849del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E802fs" "no nucleotide annotation, extrapolated from protein and databases; also c.2405_2406del possible; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286593_38286596del" "" "likely pathogenic" "" "0000846779" "3" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E746fs" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000846780" "3" "70" "X" "38146025" "38146025" "subst" "0" "00000" "RPGR_000609" "g.38146025C>A" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.G743Ter" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286772C>A" "" "likely pathogenic" "" "0000846781" "3" "70" "X" "38145638" "38145638" "subst" "0" "00000" "RPGR_000607" "g.38145638C>A" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E872Ter" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286385C>A" "" "likely pathogenic" "" "0000846782" "3" "70" "X" "38145509" "38145509" "subst" "0" "00000" "RPGR_000752" "g.38145509C>A" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E915Ter" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286256C>A" "" "likely pathogenic" "" "0000846783" "3" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.G702fs" "no nucleotide annotation, no possibility of extrapolation from protein and databases; heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000846784" "3" "70" "X" "38145846" "38145849" "del" "0" "00000" "RPGR_000375" "g.38145846_38145849del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E802fs" "no nucleotide annotation, extrapolated from protein and databases; also c.2405_2406del possible; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286593_38286596del" "" "likely pathogenic" "" "0000846785" "3" "70" "X" "38145846" "38145849" "del" "0" "00000" "RPGR_000375" "g.38145846_38145849del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E802fs" "no nucleotide annotation, extrapolated from protein and databases; also c.2405_2406del possible; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286593_38286596del" "" "likely pathogenic" "" "0000846786" "3" "70" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.L460fs" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Unknown" "?" "" "0" "" "" "g.38297321_38297322del" "" "likely pathogenic" "" "0000846787" "3" "70" "X" "38145385" "38145385" "del" "0" "00000" "RPGR_000468" "g.38145385del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E956fs" "no nucleotide annotation, extrapolated from protein and databases; also c.2866delG possible; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286132del" "" "likely pathogenic" "" "0000846788" "3" "70" "X" "38145734" "38145735" "del" "0" "00000" "RPGR_000362" "g.38145734_38145735del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E839fs" "no nucleotide annotation, extrapolated from protein and databases; also c.2516_2520delAAGGG possible; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286481_38286482del" "" "likely pathogenic" "" "0000846789" "3" "70" "X" "38145846" "38145849" "del" "0" "00000" "RPGR_000375" "g.38145846_38145849del" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E802fs" "no nucleotide annotation, extrapolated from protein and databases; also c.2405_2406del possible; hemizygous" "Unknown" "?" "" "0" "" "" "g.38286593_38286596del" "" "likely pathogenic" "" "0000846790" "3" "70" "X" "38145992" "38145992" "subst" "0" "00000" "RPGR_000232" "g.38145992C>A" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E754Ter" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.38286739C>A" "" "likely pathogenic" "" "0000846791" "3" "70" "X" "38145992" "38145992" "subst" "0" "00000" "RPGR_000232" "g.38145992C>A" "" "{PMID:Jacobson 2014:25074776}" "" "RPGR p.E754Ter" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.38286739C>A" "" "likely pathogenic" "" "0000846792" "3" "70" "X" "66293652" "66293652" "subst" "0" "00000" "RPGR_000755" "g.66293652T>G" "" "{PMID:Jacobson 2014:25074776}" "" "BBS1 p.M390R" "no nucleotide annotation, extrapolated from protein and databases; homozygous" "Unknown" "?" "" "0" "" "" "g.66526181T>G" "" "likely pathogenic" "" "0000846878" "21" "70" "X" "38145803" "38145803" "del" "0" "00000" "RPGR_000754" "g.38145803del" "" "{PMID:Avela 2019:31087526}" "" "RPGR c.2452delG" "no protein annotation; hemizygous, also present in affected mother" "Germline" "yes" "" "0" "" "" "g.38286550del" "" "likely pathogenic" "" "0000846879" "20" "70" "X" "38145683" "38145683" "delins" "0" "00000" "RPGR_000753" "g.38145683delinsCC" "" "{PMID:Avela 2019:31087526}" "" "RPGR c.2569delinsGG" "no protein annotation; hemizygous" "Germline" "yes" "" "0" "" "" "g.38286430delinsCC" "" "likely pathogenic" "" "0000846880" "20" "70" "X" "38145683" "38145683" "delins" "0" "00000" "RPGR_000753" "g.38145683delinsCC" "" "{PMID:Avela 2019:31087526}" "" "RPGR c.2569delinsGG" "no protein annotation; hemizygous" "Germline" "yes" "" "0" "" "" "g.38286430delinsCC" "" "likely pathogenic" "" "0000846884" "21" "70" "X" "38178217" "38178217" "subst" "0" "00000" "RPGR_000567" "g.38178217C>A" "" "{PMID:Avela 2019:31087526}" "" "RPGR c.334G>T , p.(Gly112Cys)" "hemizygous, also present in affected mother" "Germline" "yes" "" "0" "" "" "g.38318964C>A" "" "likely pathogenic" "" "0000856582" "0" "50" "X" "38129055" "38129055" "subst" "0" "01943" "RPGR_000756" "g.38129055T>C" "" "" "" "RPGR(NM_000328.2):c.2272A>G (p.N758D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856583" "0" "10" "X" "38145190" "38145201" "del" "0" "02327" "RPGR_000202" "g.38145190_38145201del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856584" "0" "10" "X" "38145423" "38145443" "dup" "0" "02330" "RPGR_000034" "g.38145423_38145443dup" "" "" "" "RPGR(NM_001034853.1):c.2840_2841insAGGGGAGGATGGAGAAGGGGA (p.(Gly941_Glu947dup)), RPGR(NM_001034853.2):c.2820_2840dupAGGGGAGGATGGAGAAGGGGA (p.D943_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856585" "0" "30" "X" "38145658" "38145660" "del" "0" "02330" "RPGR_000759" "g.38145658_38145660del" "" "" "" "RPGR(NM_001034853.2):c.2594_2596delGAG (p.G865del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856586" "0" "50" "X" "38150659" "38150659" "subst" "0" "01943" "RPGR_000761" "g.38150659T>C" "" "" "" "RPGR(NM_001034853.1):c.1493A>G (p.D498G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856587" "0" "30" "X" "38158202" "38158202" "subst" "2.23912E-5" "01943" "RPGR_000762" "g.38158202A>G" "" "" "" "RPGR(NM_001034853.1):c.1245+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867342" "0" "90" "X" "38144907" "38144940" "dup" "0" "02327" "RPGR_000757" "g.38144907_38144940dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000867343" "0" "10" "X" "38145389" "38145389" "subst" "0" "02330" "RPGR_000758" "g.38145389A>C" "" "" "" "RPGR(NM_001034853.2):c.2863T>G (p.W955G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867345" "0" "90" "X" "38145909" "38145909" "del" "0" "02330" "RPGR_000130" "g.38145909del" "" "" "" "RPGR(NM_001034853.1):c.2346delG (p.K783Rfs*32), RPGR(NM_001034853.2):c.2346delG (p.K783Rfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000867346" "0" "30" "X" "38147282" "38147282" "subst" "1.13224E-5" "01943" "RPGR_000760" "g.38147282T>C" "" "" "" "RPGR(NM_001034853.1):c.1585A>G (p.I529V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867347" "0" "90" "X" "38160625" "38160625" "subst" "0" "02327" "RPGR_000705" "g.38160625C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000872438" "20" "90" "X" "38145160" "38145160" "del" "0" "03840" "RPGR_000179" "g.38145160del" "" "{PMID:Mahroo 2019:31804667}" "" "RPGR GRCh37 [hg19] x:38145160delT; NM_001034853.1: c.3092delA p.[Glu1031Glyfs*58]" "proband: his daughter found to have a tapetal reflex raising the possibility of an X chromosome–linked retinopathy - previously found GUCA1A mutation should probably be deemed non-pathogenic, though other family members were not available for RPGR segregation" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000872439" "11" "77" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Mahroo 2019:31804667}" "" "3092delA" "heterozygous; screened in Mahroo 2019 when phenotype was suspected of X-linked retinopathy" "Germline" "yes" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000873412" "21" "70" "X" "38178081" "38178081" "subst" "0" "00000" "RPGR_000050" "g.38178081C>A" "" "{PMID:Kurata 2019:30917587}" "" "c.469+1G>T, p.?" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38318828C>A" "" "likely pathogenic" "" "0000873413" "21" "70" "X" "38176696" "38176696" "subst" "0" "00000" "RPGR_000640" "g.38176696C>A" "" "{PMID:Kurata 2019:30917587}" "" "c.492G>T, p.(W164C)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38317443C>A" "" "likely pathogenic" "" "0000873414" "21" "70" "X" "38163992" "38163992" "subst" "0" "00000" "RPGR_000764" "g.38163992C>A" "" "{PMID:Kurata 2019:30917587}" "" "c.830G>T, p.(G277V)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38304739C>A" "" "likely pathogenic" "" "0000873415" "21" "70" "X" "38158377" "38158377" "subst" "0" "00000" "RPGR_000096" "g.38158377A>T" "" "{PMID:Kurata 2019:30917587}" "" "c.1077T>A, p.(C359 *)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38299124A>T" "" "likely pathogenic" "" "0000873416" "21" "70" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Kurata 2019:30917587}" "" "c.1234C>T, p.(R412 *)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38298967G>A" "" "likely pathogenic" "" "0000873417" "21" "70" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Kurata 2019:30917587}" "" "c.1234C>T, p.(R412 *)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38298967G>A" "" "likely pathogenic" "" "0000873418" "21" "70" "X" "38145256" "38145257" "del" "0" "00000" "RPGR_000326" "g.38145256_38145257del" "" "{PMID:Kurata 2019:30917587}" "" "c.2997_2998del, p.(E1000Gfs *78)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38286003_38286004del" "" "likely pathogenic" "" "0000873425" "21" "70" "X" "38178081" "38178081" "subst" "0" "00000" "RPGR_000050" "g.38178081C>A" "" "{PMID:Kurata 2019:30917587}" "" "c.469+1G>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38318828C>A" "" "likely pathogenic" "" "0000873426" "21" "70" "X" "38178081" "38178081" "subst" "0" "00000" "RPGR_000050" "g.38178081C>A" "" "{PMID:Kurata 2019:30917587}" "" "c.469+1G>T, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38318828C>A" "" "likely pathogenic" "" "0000873427" "21" "70" "X" "38176696" "38176696" "subst" "0" "00000" "RPGR_000640" "g.38176696C>A" "" "{PMID:Kurata 2019:30917587}" "" "c.492G>T, p.(W164C)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38317443C>A" "" "likely pathogenic" "" "0000873428" "21" "70" "X" "38163992" "38163992" "subst" "0" "00000" "RPGR_000764" "g.38163992C>A" "" "{PMID:Kurata 2019:30917587}" "" "c.830G>T, p.(G277V)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38304739C>A" "" "likely pathogenic" "" "0000873429" "21" "70" "X" "38158377" "38158377" "subst" "0" "00000" "RPGR_000096" "g.38158377A>T" "" "{PMID:Kurata 2019:30917587}" "" "c.1077T>A, p.(C359 *)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38299124A>T" "" "likely pathogenic" "" "0000873430" "21" "70" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Kurata 2019:30917587}" "" "c.1234C>T, p.(R412 *)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38298967G>A" "" "likely pathogenic" "" "0000873431" "21" "70" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Kurata 2019:30917587}" "" "c.1234C>T, p.(R412 *)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38298967G>A" "" "likely pathogenic" "" "0000873432" "21" "70" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Kurata 2019:30917587}" "" "c.1234C>T, p.(R412 *)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38298967G>A" "" "likely pathogenic" "" "0000873433" "21" "70" "X" "38158220" "38158220" "subst" "0" "00000" "RPGR_000068" "g.38158220G>A" "" "{PMID:Kurata 2019:30917587}" "" "c.1234C>T, p.(R412 *)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38298967G>A" "" "likely pathogenic" "" "0000873434" "21" "70" "X" "38145256" "38145257" "del" "0" "00000" "RPGR_000326" "g.38145256_38145257del" "" "{PMID:Kurata 2019:30917587}" "" "c.2997_2998del, p.(E1000Gfs *78)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38286003_38286004del" "" "likely pathogenic" "" "0000878773" "0" "90" "X" "38146439" "38146439" "subst" "0" "01741" "RPGR_000765" "g.38146439C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000880886" "0" "70" "X" "38182159" "38182159" "subst" "0" "00000" "RPGR_000596" "g.38182159C>T" "" "{PMID:Fahim 2011:21857984}" "" "c.194G>A (p.G65D)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38322906C>T" "" "likely pathogenic" "" "0000880887" "0" "70" "X" "38182159" "38182159" "subst" "0" "00000" "RPGR_000596" "g.38182159C>T" "" "{PMID:Fahim 2011:21857984}" "" "c.194G>A (p.G65D)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38322906C>T" "" "likely pathogenic" "" "0000880888" "0" "70" "X" "38180294" "38180294" "subst" "0" "00000" "RPGR_000102" "g.38180294G>A" "" "{PMID:Fahim 2011:21857984}" "" "c.296C>T (p.T99I)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38321041G>A" "" "likely pathogenic" "" "0000880889" "0" "70" "X" "38176571" "38176571" "subst" "0" "00000" "RPGR_000792" "g.38176571G>A" "" "{PMID:Fahim 2011:21857984}" "" "c.617C>T (p.T206I)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38317318G>A" "" "likely pathogenic" "" "0000880890" "0" "70" "X" "38164007" "38164007" "subst" "0" "00000" "RPGR_000791" "g.38164007C>T" "" "{PMID:Fahim 2011:21857984}" "" "c.815G>A (p.G272D)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38304754C>T" "" "likely pathogenic" "" "0000880891" "0" "70" "X" "38180277" "38180289" "del" "0" "00000" "RPGR_000796" "g.38180277_38180289del" "" "{PMID:Fahim 2011:21857984}" "" "c.301_IVS4+3del" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38321024_38321036del" "" "likely pathogenic" "" "0000880892" "0" "70" "X" "38180277" "38180289" "del" "0" "00000" "RPGR_000796" "g.38180277_38180289del" "" "{PMID:Fahim 2011:21857984}" "" "c.301_IVS4+3del" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38321024_38321036del" "" "likely pathogenic" "" "0000880893" "0" "70" "X" "38180277" "38180277" "subst" "0" "00000" "RPGR_000301" "g.38180277T>C" "" "{PMID:Fahim 2011:21857984}" "" "IVS4+3A>G" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38321024T>C" "" "likely pathogenic" "" "0000880894" "0" "70" "X" "38164044" "38164044" "subst" "0" "00000" "RPGR_000432" "g.38164044C>T" "" "{PMID:Fahim 2011:21857984}" "" "IVS7-1G>A" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38304791C>T" "" "likely pathogenic" "" "0000880895" "0" "70" "X" "38147302" "38147302" "subst" "0" "00000" "RPGR_000243" "g.38147302T>C" "" "{PMID:Fahim 2011:21857984}" "" "IVS13-8 A>G" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38288049T>C" "" "likely pathogenic" "" "0000880896" "0" "70" "X" "38147291" "38147295" "delins" "0" "00000" "RPGR_000784" "g.38147291_38147295delinsTT" "" "{PMID:Fahim 2011:21857984}" "" "IVS13-1_1576delGAAACinsAA" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38288038_38288042delinsTT" "" "likely pathogenic" "" "0000880897" "0" "70" "X" "38169916" "38169916" "subst" "0" "00000" "RPGR_000286" "g.38169916T>A" "" "{PMID:Fahim 2011:21857984}" "" "c.730A>T (p.K244X)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38310663T>A" "" "likely pathogenic" "" "0000880898" "0" "70" "X" "38169916" "38169916" "subst" "0" "00000" "RPGR_000286" "g.38169916T>A" "" "{PMID:Fahim 2011:21857984}" "" "c.730A>T (p.K244X)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38310663T>A" "" "likely pathogenic" "" "0000880899" "0" "70" "X" "38169916" "38169916" "subst" "0" "00000" "RPGR_000286" "g.38169916T>A" "" "{PMID:Fahim 2011:21857984}" "" "c.730A>T (p.K244X)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38310663T>A" "" "likely pathogenic" "" "0000880900" "0" "70" "X" "38163985" "38163989" "del" "0" "00000" "RPGR_000429" "g.38163985_38163989del" "" "{PMID:Fahim 2011:21857984}" "" "c.838_842del (p.L280X)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38304732_38304736del" "" "likely pathogenic" "" "0000880901" "0" "70" "X" "38163985" "38163989" "del" "0" "00000" "RPGR_000429" "g.38163985_38163989del" "" "{PMID:Fahim 2011:21857984}" "" "c.838_842del (p.L280X)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38304732_38304736del" "" "likely pathogenic" "" "0000880902" "0" "70" "X" "38163971" "38163971" "subst" "0" "00000" "RPGR_000155" "g.38163971G>C" "" "{PMID:Fahim 2011:21857984}" "" "c.851C>G (p.S284X)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38304718G>C" "" "likely pathogenic" "" "0000880903" "0" "70" "X" "38158328" "38158328" "subst" "0" "00000" "RPGR_000788" "g.38158328C>A" "" "{PMID:Fahim 2011:21857984}" "" "c.1126G>T (p.E376X)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38299075C>A" "" "likely pathogenic" "" "0000880904" "0" "70" "X" "38158328" "38158328" "subst" "0" "00000" "RPGR_000788" "g.38158328C>A" "" "{PMID:Fahim 2011:21857984}" "" "c.1126G>T (p.E376X)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38299075C>A" "" "likely pathogenic" "" "0000880905" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880906" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880907" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880908" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880909" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880910" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880911" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880912" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880913" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880914" "0" "70" "X" "38182709" "38182709" "del" "0" "00000" "RPGR_000313" "g.38182709del" "" "{PMID:Fahim 2011:21857984}" "" "c.101del (p.N34Mfs*34)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38323456del" "" "likely pathogenic" "" "0000880915" "0" "70" "X" "38182134" "38182134" "del" "0" "00000" "RPGR_000798" "g.38182134del" "" "{PMID:Fahim 2011:21857984}" "" "c.219del (p.A74Pfs*11)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38322881del" "" "likely pathogenic" "" "0000880916" "0" "70" "X" "38178196" "38178196" "del" "0" "00000" "RPGR_000447" "g.38178196del" "" "{PMID:Fahim 2011:21857984}" "" "c.356del (p.L119Wfs*14)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38318943del" "" "likely pathogenic" "" "0000880917" "0" "70" "X" "38178180" "38178180" "del" "0" "00000" "RPGR_000299" "g.38178180del" "" "{PMID:Fahim 2011:21857984}" "" "c.372del (p.E125Kfs*8)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38318927del" "" "likely pathogenic" "" "0000880918" "0" "70" "X" "38170010" "38170020" "del" "0" "00000" "RPGR_000437" "g.38170010_38170020del" "" "{PMID:Fahim 2011:21857984}" "" "c.629_639del (p.E210Vfs*5)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38310757_38310767del" "" "likely pathogenic" "" "0000880919" "0" "70" "X" "38170010" "38170020" "del" "0" "00000" "RPGR_000437" "g.38170010_38170020del" "" "{PMID:Fahim 2011:21857984}" "" "c.629_639del (p.E210Vfs*5)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38310757_38310767del" "" "likely pathogenic" "" "0000880920" "0" "70" "X" "38158366" "38158366" "dup" "0" "00000" "RPGR_000265" "g.38158366dup" "" "{PMID:Fahim 2011:21857984}" "" "c.1092dupA (p.A365Cfs*12)" "error in annotation, A is on genomic level, transcript level duplication is c.1092dupT; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38299113dup" "" "likely pathogenic" "" "0000880921" "0" "70" "X" "38158216" "38158217" "del" "0" "00000" "RPGR_000261" "g.38158216_38158217del" "" "{PMID:Fahim 2011:21857984}" "" "c.1243_1244del (p.R415Gfs*37)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38298963_38298964del" "" "likely pathogenic" "" "0000880922" "0" "70" "X" "38158216" "38158217" "del" "0" "00000" "RPGR_000261" "g.38158216_38158217del" "" "{PMID:Fahim 2011:21857984}" "" "c.1243_1244del (p.R415Gfs*37)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38298963_38298964del" "" "likely pathogenic" "" "0000880923" "0" "70" "X" "38156631" "38156634" "del" "0" "00000" "RPGR_000786" "g.38156631_38156634del" "" "{PMID:Fahim 2011:21857984}" "" "c.1319_1322del (p.C440Ffs*35)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38297378_38297381del" "" "likely pathogenic" "" "0000880924" "0" "70" "X" "38156631" "38156634" "del" "0" "00000" "RPGR_000786" "g.38156631_38156634del" "" "{PMID:Fahim 2011:21857984}" "" "c.1319_1322del (p.C440Ffs*35)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38297378_38297381del" "" "likely pathogenic" "" "0000880925" "0" "70" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Fahim 2011:21857984}" "" "c.1377_1378del (p.L460Ifs*2)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38297321_38297322del" "" "likely pathogenic" "" "0000880926" "0" "70" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Fahim 2011:21857984}" "" "c.1377_1378del (p.L460Ifs*2)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38297321_38297322del" "" "likely pathogenic" "" "0000880927" "0" "70" "X" "38156574" "38156575" "del" "0" "00000" "RPGR_000018" "g.38156574_38156575del" "" "{PMID:Fahim 2011:21857984}" "" "c.1377_1378del (p.L460Ifs*2)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38297321_38297322del" "" "likely pathogenic" "" "0000880928" "0" "70" "X" "38147205" "38147208" "del" "0" "00000" "RPGR_000138" "g.38147205_38147208del" "" "{PMID:Fahim 2011:21857984}" "" "c.1662_1665del (p.E555Gfs*14)" "hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38287952_38287955del" "" "likely pathogenic" "" "0000880929" "0" "70" "X" "38146172" "38146172" "subst" "0" "00000" "RPGR_000781" "g.38146172T>A" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+327A>T (ORF15K109X)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286919T>A" "" "likely pathogenic" "" "0000880930" "0" "70" "X" "38146106" "38146106" "subst" "0" "00000" "RPGR_000393" "g.38146106C>A" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+393G>T (ORF15Glu129X)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286853C>A" "" "likely pathogenic" "" "0000880931" "0" "70" "X" "38146106" "38146106" "subst" "0" "00000" "RPGR_000393" "g.38146106C>A" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+393G>T (ORF15Glu129X)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286853C>A" "" "likely pathogenic" "" "0000880932" "0" "70" "X" "38146076" "38146076" "subst" "0" "00000" "RPGR_000390" "g.38146076C>A" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+423G>T (ORF15Glu141X)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286823C>A" "" "likely pathogenic" "" "0000880933" "0" "70" "X" "38146040" "38146040" "subst" "0" "00000" "RPGR_000593" "g.38146040C>A" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+459G>T (ORF15G153X)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286787C>A" "" "likely pathogenic" "" "0000880934" "0" "70" "X" "38146040" "38146040" "subst" "0" "00000" "RPGR_000593" "g.38146040C>A" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+459G>T (ORF15G153X)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286787C>A" "" "likely pathogenic" "" "0000880935" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+483_484del (ORF15E161Rfs*23)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000880936" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+483_484del (ORF15E161Rfs*23)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000880937" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+483_484del (ORF15E161Rfs*23)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000880938" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+483_484del (ORF15E161Rfs*23)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000880939" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+483_484del (ORF15E161Rfs*23)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000880940" "0" "70" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+483_484del (ORF15E161Rfs*23)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286765_38286766del" "" "likely pathogenic" "" "0000880941" "0" "70" "X" "38145912" "38145912" "del" "0" "00000" "RPGR_000378" "g.38145912del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+587del (ORF15A196Rfs*34)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286659del" "" "likely pathogenic" "" "0000880942" "0" "70" "X" "38145912" "38145912" "del" "0" "00000" "RPGR_000378" "g.38145912del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+587del (ORF15A196Rfs*34)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286659del" "" "likely pathogenic" "" "0000880943" "0" "70" "X" "38145912" "38145912" "del" "0" "00000" "RPGR_000378" "g.38145912del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+587del (ORF15A196Rfs*34)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286659del" "" "likely pathogenic" "" "0000880944" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880945" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880946" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880947" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880948" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880949" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880950" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880951" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880952" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880953" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880954" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880955" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880956" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880957" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880958" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880959" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880960" "0" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+652_653del (ORF15E217Gfs*32)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000880961" "0" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+673_674del (ORF15E224Gfs*25)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000880962" "0" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+673_674del (ORF15E224Gfs*25)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000880963" "0" "70" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+689_692del (ORF15G232fs*2)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286554_38286557del" "" "likely pathogenic" "" "0000880964" "0" "70" "X" "38145807" "38145810" "del" "0" "00000" "RPGR_000229" "g.38145807_38145810del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+689_692del (ORF15G232fs*2)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286554_38286557del" "" "likely pathogenic" "" "0000880965" "0" "70" "X" "38145758" "38145771" "del" "0" "00000" "RPGR_000775" "g.38145758_38145771del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+730_743del (ORF15E828Gfs*2)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286505_38286518del" "" "likely pathogenic" "" "0000880966" "0" "70" "X" "38146313" "38146314" "ins" "0" "00000" "RPGR_000399" "g.38146313_38146314insCCTCT" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+185_186insAGAGG (ORF15A62Rfs*52)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38287060_38287061insCCTCT" "" "likely pathogenic" "" "0000880967" "0" "70" "X" "38146016" "38146019" "del" "0" "00000" "RPGR_000384" "g.38146016_38146019del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+481_484del (ORF15R160Kfs*69)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286763_38286766del" "" "likely pathogenic" "" "0000880968" "0" "70" "X" "38145999" "38146002" "del" "0" "00000" "RPGR_000671" "g.38145999_38146002del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+499_502del (ORF15K166fs*229)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286746_38286749del" "" "likely pathogenic" "" "0000880969" "0" "70" "X" "38145999" "38146002" "del" "0" "00000" "RPGR_000671" "g.38145999_38146002del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+499_502del (ORF15K166fs*229)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286746_38286749del" "" "likely pathogenic" "" "0000880970" "0" "70" "X" "38145979" "38145982" "del" "0" "00000" "RPGR_000778" "g.38145979_38145982del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+521_524del (ORF15G174Kfs*55)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286726_38286729del" "" "likely pathogenic" "" "0000880971" "0" "70" "X" "38145779" "38145779" "del" "0" "00000" "RPGR_000776" "g.38145779del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+720del (ORF15E240Rfs*264)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286526del" "" "likely pathogenic" "" "0000880972" "0" "70" "X" "38145734" "38145738" "del" "0" "00000" "RPGR_000227" "g.38145734_38145738del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+763_767del (ORF15E254Gfs*238)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286481_38286485del" "" "likely pathogenic" "" "0000880974" "0" "70" "X" "38145734" "38145738" "del" "0" "00000" "RPGR_000227" "g.38145734_38145738del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+763_767del (ORF15E254Gfs*238)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286481_38286485del" "" "likely pathogenic" "" "0000880975" "0" "70" "X" "38145734" "38145735" "del" "0" "00000" "RPGR_000362" "g.38145734_38145735del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15 c.764_765del (ORF15E256Gfs*237)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286481_38286482del" "" "likely pathogenic" "" "0000880976" "0" "70" "X" "38145652" "38145653" "del" "0" "00000" "RPGR_000355" "g.38145652_38145653del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+848_849del (ORF15E283Gfs*210)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286399_38286400del" "" "likely pathogenic" "" "0000880977" "0" "70" "X" "38145652" "38145653" "del" "0" "00000" "RPGR_000355" "g.38145652_38145653del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+848_849del (ORF15E283Gfs*210)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286399_38286400del" "" "likely pathogenic" "" "0000880978" "0" "70" "X" "38145628" "38145628" "dup" "0" "00000" "RPGR_000221" "g.38145628dup" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+872dupA (ORF15G291Rfs*203)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286375dup" "" "likely pathogenic" "" "0000880979" "0" "70" "X" "38145464" "38145464" "del" "0" "00000" "RPGR_000773" "g.38145464del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+1038delG (ORF15E346R*158)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286211del" "" "likely pathogenic" "" "0000880980" "0" "70" "X" "38145385" "38145385" "del" "0" "00000" "RPGR_000468" "g.38145385del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+1114delA (ORF15E371Gfs*133)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286132del" "" "likely pathogenic" "" "0000880981" "0" "70" "X" "38145385" "38145385" "del" "0" "00000" "RPGR_000468" "g.38145385del" "" "{PMID:Fahim 2011:21857984}" "" "ORF15+1114delA (ORF15E371Gfs*133)" "obsolete ORF15 annotation; hemizygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286132del" "" "likely pathogenic" "" "0000880985" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880986" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880987" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880988" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880989" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880990" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880991" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880992" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880993" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880994" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880995" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880996" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880997" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880998" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000880999" "20" "70" "X" "38186596" "38186596" "del" "0" "00000" "RPGR_000801" "g.38186596del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (1)" "Germline" "yes" "" "0" "" "" "g.38327343del" "" "likely pathogenic" "" "0000881000" "20" "70" "X" "38186591" "38186591" "subst" "0" "00000" "RPGR_000800" "g.38186591A>G" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38327338A>G" "" "likely pathogenic" "" "0000881001" "20" "70" "X" "38182694" "38182694" "del" "0" "00000" "RPGR_000714" "g.38182694del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38323441del" "" "likely pathogenic" "" "0000881002" "20" "70" "X" "38180356" "38180374" "del" "0" "00000" "RPGR_000072" "g.38180356_38180374del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38321103_38321121del" "" "likely pathogenic" "" "0000881003" "20" "70" "X" "38178222" "38178222" "subst" "0" "00000" "RPGR_000795" "g.38178222G>T" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38318969G>T" "" "likely pathogenic" "" "0000881004" "0" "70" "X" "38178216" "38178218" "del" "0" "00000" "RPGR_000794" "g.38178216_38178218del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38318963_38318965del" "" "likely pathogenic" "" "0000881005" "20" "70" "X" "38178126" "38178126" "subst" "0" "00000" "RPGR_000793" "g.38178126A>C" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38318873A>C" "" "likely pathogenic" "" "0000881006" "20" "70" "X" "38178126" "38178126" "subst" "0" "00000" "RPGR_000793" "g.38178126A>C" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38318873A>C" "" "likely pathogenic" "" "0000881007" "20" "70" "X" "38178126" "38178126" "subst" "0" "00000" "RPGR_000793" "g.38178126A>C" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38318873A>C" "" "likely pathogenic" "" "0000881008" "20" "70" "X" "38169940" "38169940" "subst" "0" "00000" "RPGR_000288" "g.38169940G>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (2)" "Germline" "yes" "" "0" "" "" "g.38310687G>A" "" "likely pathogenic" "" "0000881009" "20" "70" "X" "38169940" "38169940" "subst" "0" "00000" "RPGR_000288" "g.38169940G>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (2)" "Germline" "yes" "" "0" "" "" "g.38310687G>A" "" "likely pathogenic" "" "0000881010" "20" "70" "X" "38163923" "38163923" "del" "0" "00000" "RPGR_000790" "g.38163923del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38304670del" "" "likely pathogenic" "" "0000881011" "20" "70" "X" "38163923" "38163923" "del" "0" "00000" "RPGR_000790" "g.38163923del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38304670del" "" "likely pathogenic" "" "0000881012" "20" "70" "X" "38163923" "38163923" "del" "0" "00000" "RPGR_000790" "g.38163923del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38304670del" "" "likely pathogenic" "" "0000881013" "20" "70" "X" "38158396" "38158396" "subst" "0" "00000" "RPGR_000789" "g.38158396T>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 2 (1)" "Germline" "yes" "" "0" "" "" "g.38299143T>A" "" "likely pathogenic" "" "0000881014" "20" "70" "X" "38158396" "38158396" "subst" "0" "00000" "RPGR_000789" "g.38158396T>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 2 (1)" "Germline" "yes" "" "0" "" "" "g.38299143T>A" "" "likely pathogenic" "" "0000881015" "20" "70" "X" "38158247" "38158247" "subst" "0" "00000" "RPGR_000787" "g.38158247G>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38298994G>A" "" "likely pathogenic" "" "0000881016" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000881017" "20" "70" "X" "38156591" "38156616" "dup" "0" "00000" "RPGR_000785" "g.38156591_38156616dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38297338_38297363dup" "" "likely pathogenic" "" "0000881018" "20" "70" "X" "38156606" "38156606" "subst" "0" "00000" "RPGR_000132" "g.38156606G>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 2 (1)" "Germline" "yes" "" "0" "" "" "g.38297353G>A" "" "likely pathogenic" "" "0000881019" "20" "70" "X" "38156606" "38156606" "subst" "0" "00000" "RPGR_000132" "g.38156606G>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 2 (1)" "Germline" "yes" "" "0" "" "" "g.38297353G>A" "" "likely pathogenic" "" "0000881020" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000881021" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000881022" "20" "70" "X" "38147267" "38147267" "subst" "0" "00000" "RPGR_000783" "g.38147267G>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 2 (1)" "Germline" "yes" "" "0" "" "" "g.38288014G>A" "" "likely pathogenic" "" "0000881023" "20" "70" "X" "38147267" "38147267" "subst" "0" "00000" "RPGR_000783" "g.38147267G>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 2 (1)" "Germline" "yes" "" "0" "" "" "g.38288014G>A" "" "likely pathogenic" "" "0000881024" "20" "70" "X" "38147181" "38147182" "del" "0" "00000" "RPGR_000407" "g.38147181_38147182del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38287928_38287929del" "" "likely pathogenic" "" "0000881025" "20" "70" "X" "38146482" "38146485" "del" "0" "00000" "RPGR_000782" "g.38146482_38146485del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38287229_38287232del" "" "likely pathogenic" "" "0000881026" "20" "70" "X" "38146243" "38146243" "del" "0" "00000" "RPGR_000067" "g.38146243del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38286990del" "" "likely pathogenic" "" "0000881027" "20" "70" "X" "38146052" "38146052" "subst" "0" "00000" "RPGR_000780" "g.38146052C>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38286799C>A" "" "likely pathogenic" "" "0000881028" "20" "70" "X" "38146015" "38146019" "del" "0" "00000" "RPGR_000779" "g.38146015_38146019del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38286762_38286766del" "" "likely pathogenic" "" "0000881029" "20" "70" "X" "38146015" "38146019" "del" "0" "00000" "RPGR_000779" "g.38146015_38146019del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38286762_38286766del" "" "likely pathogenic" "" "0000881030" "20" "70" "X" "38146015" "38146019" "del" "0" "00000" "RPGR_000779" "g.38146015_38146019del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38286762_38286766del" "" "likely pathogenic" "" "0000881031" "20" "70" "X" "38146015" "38146019" "del" "0" "00000" "RPGR_000779" "g.38146015_38146019del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38286762_38286766del" "" "likely pathogenic" "" "0000881032" "20" "70" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 2 (1)" "Germline" "yes" "" "0" "" "" "g.38286743_38286746del" "" "likely pathogenic" "" "0000881033" "20" "70" "X" "38145996" "38145999" "del" "0" "00000" "RPGR_000233" "g.38145996_38145999del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 2 (1)" "Germline" "yes" "" "0" "" "" "g.38286743_38286746del" "" "likely pathogenic" "" "0000881034" "20" "70" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 5 (1)" "Germline" "yes" "" "0" "" "" "g.38286680_38286681del" "" "likely pathogenic" "" "0000881035" "20" "70" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 5 (1)" "Germline" "yes" "" "0" "" "" "g.38286680_38286681del" "" "likely pathogenic" "" "0000881036" "20" "70" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 5 (1)" "Germline" "yes" "" "0" "" "" "g.38286680_38286681del" "" "likely pathogenic" "" "0000881037" "20" "70" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 5 (1)" "Germline" "yes" "" "0" "" "" "g.38286680_38286681del" "" "likely pathogenic" "" "0000881038" "20" "70" "X" "38145933" "38145934" "del" "0" "00000" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 5 (1)" "Germline" "yes" "" "0" "" "" "g.38286680_38286681del" "" "likely pathogenic" "" "0000881039" "20" "70" "X" "38145890" "38145894" "del" "0" "00000" "RPGR_000777" "g.38145890_38145894del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (2)" "Germline" "yes" "" "0" "" "" "g.38286637_38286641del" "" "likely pathogenic" "" "0000881040" "20" "70" "X" "38145890" "38145894" "del" "0" "00000" "RPGR_000777" "g.38145890_38145894del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (2)" "Germline" "yes" "" "0" "" "" "g.38286637_38286641del" "" "likely pathogenic" "" "0000881041" "20" "70" "X" "38145890" "38145894" "del" "0" "00000" "RPGR_000777" "g.38145890_38145894del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (2)" "Germline" "yes" "" "0" "" "" "g.38286637_38286641del" "" "likely pathogenic" "" "0000881042" "20" "70" "X" "38145890" "38145894" "del" "0" "00000" "RPGR_000777" "g.38145890_38145894del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (2)" "Germline" "yes" "" "0" "" "" "g.38286637_38286641del" "" "likely pathogenic" "" "0000881043" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881044" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881045" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881046" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881047" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881048" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881049" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881050" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881051" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881052" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881053" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881054" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881055" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881056" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881057" "20" "70" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 15 (4)" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "" "0000881058" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (2)" "Germline" "yes" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000881059" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (2)" "Germline" "yes" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000881060" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (2)" "Germline" "yes" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000881061" "20" "70" "X" "38145827" "38145828" "del" "0" "00000" "RPGR_000164" "g.38145827_38145828del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (2)" "Germline" "yes" "" "0" "" "" "g.38286574_38286575del" "" "likely pathogenic" "" "0000881062" "20" "70" "X" "38145716" "38145716" "subst" "0" "00000" "RPGR_000224" "g.38145716C>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (3)" "Germline" "yes" "" "0" "" "" "g.38286463C>A" "" "likely pathogenic" "" "0000881063" "20" "70" "X" "38145716" "38145716" "subst" "0" "00000" "RPGR_000224" "g.38145716C>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (3)" "Germline" "yes" "" "0" "" "" "g.38286463C>A" "" "likely pathogenic" "" "0000881064" "20" "70" "X" "38145716" "38145716" "subst" "0" "00000" "RPGR_000224" "g.38145716C>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (3)" "Germline" "yes" "" "0" "" "" "g.38286463C>A" "" "likely pathogenic" "" "0000881065" "20" "70" "X" "38145677" "38145677" "subst" "0" "00000" "RPGR_000774" "g.38145677C>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38286424C>A" "" "likely pathogenic" "" "0000881066" "20" "70" "X" "38145415" "38145416" "del" "0" "00000" "RPGR_000505" "g.38145415_38145416del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38286162_38286163del" "" "likely pathogenic" "" "0000881067" "20" "70" "X" "38145415" "38145416" "del" "0" "00000" "RPGR_000505" "g.38145415_38145416del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38286162_38286163del" "" "likely pathogenic" "" "0000881068" "20" "70" "X" "38145415" "38145416" "del" "0" "00000" "RPGR_000505" "g.38145415_38145416del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 3 (1)" "Germline" "yes" "" "0" "" "" "g.38286162_38286163del" "" "likely pathogenic" "" "0000881069" "20" "70" "X" "38145412" "38145412" "dup" "0" "00000" "RPGR_000772" "g.38145412dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38286159dup" "" "likely pathogenic" "" "0000881070" "20" "70" "X" "38145412" "38145412" "dup" "0" "00000" "RPGR_000772" "g.38145412dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38286159dup" "" "likely pathogenic" "" "0000881071" "20" "70" "X" "38145412" "38145412" "dup" "0" "00000" "RPGR_000772" "g.38145412dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38286159dup" "" "likely pathogenic" "" "0000881072" "20" "70" "X" "38145412" "38145412" "dup" "0" "00000" "RPGR_000772" "g.38145412dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38286159dup" "" "likely pathogenic" "" "0000881073" "20" "70" "X" "38145380" "38145380" "subst" "0" "00000" "RPGR_000210" "g.38145380C>A" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38286127C>A" "" "likely pathogenic" "" "0000881074" "20" "70" "X" "38145338" "38145338" "del" "0" "00000" "RPGR_000771" "g.38145338del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38286085del" "" "likely pathogenic" "" "0000881075" "20" "70" "X" "38145197" "38145197" "del" "0" "00000" "RPGR_000203" "g.38145197del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38285944del" "" "likely pathogenic" "" "0000881076" "20" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000881077" "20" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000881078" "20" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000881079" "20" "70" "X" "38145160" "38145160" "del" "0" "00000" "RPGR_000179" "g.38145160del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 4 (1)" "Germline" "yes" "" "0" "" "" "g.38285907del" "" "likely pathogenic" "" "0000881080" "20" "70" "X" "38144988" "38144991" "del" "0" "00000" "RPGR_000768" "g.38144988_38144991del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in one female carrier" "Germline" "yes" "" "0" "" "" "g.38285735_38285738del" "" "likely pathogenic" "" "0000881081" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881082" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881083" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881084" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881085" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881086" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881087" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881088" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881089" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881090" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881091" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881092" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881093" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881094" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881095" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881096" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881097" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881098" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881099" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881100" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881101" "20" "70" "X" "38144941" "38144941" "dup" "0" "00000" "RPGR_000154" "g.38144941dup" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 21 (1)" "Germline" "yes" "" "0" "" "" "g.38285688dup" "" "likely pathogenic" "" "0000881102" "20" "70" "X" "38144865" "38144866" "del" "0" "00000" "RPGR_000766" "g.38144865_38144866del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 6 (3)" "Germline" "yes" "" "0" "" "" "g.38285612_38285613del" "" "likely pathogenic" "" "0000881103" "20" "70" "X" "38144865" "38144866" "del" "0" "00000" "RPGR_000766" "g.38144865_38144866del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 6 (3)" "Germline" "yes" "" "0" "" "" "g.38285612_38285613del" "" "likely pathogenic" "" "0000881104" "20" "70" "X" "38144865" "38144866" "del" "0" "00000" "RPGR_000766" "g.38144865_38144866del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 6 (3)" "Germline" "yes" "" "0" "" "" "g.38285612_38285613del" "" "likely pathogenic" "" "0000881105" "20" "70" "X" "38144865" "38144866" "del" "0" "00000" "RPGR_000766" "g.38144865_38144866del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 6 (3)" "Germline" "yes" "" "0" "" "" "g.38285612_38285613del" "" "likely pathogenic" "" "0000881106" "20" "70" "X" "38144865" "38144866" "del" "0" "00000" "RPGR_000766" "g.38144865_38144866del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 6 (3)" "Germline" "yes" "" "0" "" "" "g.38285612_38285613del" "" "likely pathogenic" "" "0000881107" "20" "70" "X" "38144865" "38144866" "del" "0" "00000" "RPGR_000766" "g.38144865_38144866del" "" "{PMID:Talib 2018:30105367}" "" "" "this mutation was found in N female carriers (n families): 6 (3)" "Germline" "yes" "" "0" "" "" "g.38285612_38285613del" "" "likely pathogenic" "" "0000881108" "20" "90" "X" "38147306" "38147306" "subst" "0" "00000" "RPGR_000116" "g.38147306T>C" "" "{PMID:Kortum 2021:33467000}" "" "RPGR c.1573-12A>G" "a novel acceptor site for exon 14; if translated, leads to an insertion of ten novel amino acid residues followed by a premature stop codon; hemizygous" "Germline" "yes" "" "0" "" "" "g.38288053T>C" "" "pathogenic" "" "0000881109" "21" "90" "X" "38164048" "38164048" "subst" "0" "00000" "RPGR_000280" "g.38164048A>C" "" "{PMID:Kortum 2021:33467000}" "" "RPGR c.779-5T>G" "in vitro splicing assay: exon 8 skipping; hemizygous" "Germline" "yes" "" "0" "" "" "g.38304795A>C" "" "pathogenic" "" "0000881110" "21" "90" "X" "38182101" "38182101" "subst" "0" "00000" "RPGR_000797" "g.38182101C>T" "" "{PMID:Kortum 2021:33467000}" "" "RPGR c.247+5G>A" "in vitro splicing assay: exon 3 skipping; hemizygous" "Germline" "yes" "" "0" "" "" "g.38322848C>T" "" "pathogenic" "" "0000881111" "21" "90" "X" "38182101" "38182101" "subst" "0" "00000" "RPGR_000797" "g.38182101C>T" "" "{PMID:Kortum 2021:33467000}" "" "RPGR c.247+5G>A" "in vitro splicing assay: exon 3 skipping; heterozygous" "Germline" "yes" "" "0" "" "" "g.38322848C>T" "" "pathogenic" "" "0000881112" "20" "90" "X" "38182648" "38182651" "del" "0" "00000" "RPGR_000799" "g.38182648_38182651del" "" "{PMID:Kortum 2021:33467000}" "" "RPGR c.154+3_6delTAGT" "in vitro splicing assay: exon 2 skipping; hemizygous" "Germline" "yes" "" "0" "" "" "g.38323395_38323398del" "" "pathogenic" "" "0000881447" "1" "70" "X" "38144916" "38144916" "del" "0" "04405" "RPGR_000767" "g.38144916del" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.38285663del" "" "likely pathogenic" "ACMG" "0000881448" "1" "70" "X" "38145090" "38145091" "del" "0" "04405" "RPGR_000769" "g.38145090_38145091del" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.38285837_38285838del" "" "likely pathogenic" "ACMG" "0000881449" "1" "70" "X" "38145272" "38145272" "subst" "0" "04405" "RPGR_000770" "g.38145272C>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.38286019C>A" "" "likely pathogenic" "ACMG" "0000896179" "0" "30" "X" "38134323" "38134323" "subst" "0" "02330" "RPGR_000802" "g.38134323T>C" "" "" "" "RPGR(NM_000328.3):c.2149+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896180" "0" "10" "X" "38144988" "38144988" "subst" "0.0801871" "02327" "RPGR_000803" "g.38144988C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896181" "0" "10" "X" "38145033" "38145033" "subst" "0.0805419" "02327" "RPGR_000198" "g.38145033G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896182" "0" "30" "X" "38145330" "38145350" "dup" "0" "02330" "RPGR_000033" "g.38145330_38145350dup" "" "" "" "RPGR(NM_000328.2):c.1905+1034_1905+1035insAGGGGAGGAAGGAGAAGGGGA (p.(=)), RPGR(NM_001034853.2):c.2919_2939dupAGGGGAGGAAGGAGAAGGGGA (p.G977_E983dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896183" "0" "30" "X" "38145354" "38145354" "subst" "0" "02330" "RPGR_000645" "g.38145354C>T" "" "" "" "RPGR(NM_001034853.1):c.2898G>A (p.G966=), RPGR(NM_001034853.2):c.2898G>A (p.G966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896184" "0" "30" "X" "38145411" "38145411" "subst" "0" "02330" "RPGR_000646" "g.38145411C>T" "" "" "" "RPGR(NM_001034853.2):c.2841G>A (p.E947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896185" "0" "10" "X" "38145451" "38145456" "del" "0" "02327" "RPGR_000804" "g.38145451_38145456del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896186" "0" "30" "X" "38145561" "38145563" "del" "0" "02330" "RPGR_000805" "g.38145561_38145563del" "" "" "" "RPGR(NM_001034853.2):c.2694_2696delGGA (p.E899del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896187" "0" "30" "X" "38145633" "38145647" "del" "0" "02327" "RPGR_000222" "g.38145633_38145647del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896188" "0" "30" "X" "38145646" "38145646" "subst" "0" "02330" "RPGR_000632" "g.38145646T>C" "" "" "" "RPGR(NM_001034853.2):c.2606A>G (p.E869G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896189" "0" "30" "X" "38145732" "38145732" "subst" "0" "02330" "RPGR_000806" "g.38145732C>A" "" "" "" "RPGR(NM_001034853.2):c.2520G>T (p.G840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896190" "0" "10" "X" "38145732" "38145752" "del" "0" "02327" "RPGR_000035" "g.38145732_38145752del" "" "" "" "RPGR(NM_001034853.1):c.2541_2561del (p.(Gly849_Glu855del)), RPGR(NM_001034853.1):c.2541_2561delGGAGGGGGAAGAGGAGGAAGG (p.E850_G856del), RPGR(NM_001...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896191" "0" "30" "X" "38145735" "38145735" "subst" "0" "02330" "RPGR_000807" "g.38145735T>C" "" "" "" "RPGR(NM_001034853.2):c.2517A>G (p.E839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896192" "0" "10" "X" "38146029" "38146029" "subst" "0" "02327" "RPGR_000385" "g.38146029C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896193" "0" "10" "X" "38147170" "38147170" "subst" "0.102629" "02327" "RPGR_000006" "g.38147170C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896194" "0" "10" "X" "38150201" "38150201" "subst" "0.0991745" "02327" "RPGR_000244" "g.38150201T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896195" "0" "10" "X" "38156655" "38156655" "subst" "0.00184882" "02327" "RPGR_000808" "g.38156655T>A" "" "" "" "RPGR(NM_001034853.2):c.1296A>T (p.(Glu432Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896196" "0" "10" "X" "38156660" "38156660" "subst" "0.0792322" "02327" "RPGR_000003" "g.38156660T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896197" "0" "10" "X" "38156677" "38156677" "subst" "0.102089" "02327" "RPGR_000002" "g.38156677C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896198" "0" "50" "X" "38158238" "38158238" "subst" "0" "02327" "RPGR_000809" "g.38158238G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896199" "0" "70" "X" "38164045" "38164045" "subst" "0" "02327" "RPGR_000810" "g.38164045T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896200" "0" "10" "X" "38186672" "38186672" "subst" "0.0150148" "02327" "RPGR_000811" "g.38186672G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000896468" "21" "90" "X" "38145827" "38145827" "subst" "0" "00000" "RPGR_000744" "g.38145827C>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPGR c.[2425G>T];[0]; p.(Glu809Ter)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38286574C>A" "" "pathogenic" "" "0000896469" "21" "90" "X" "38145092" "38145092" "subst" "0" "00000" "RPGR_000467" "g.38145092C>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPGR c.[3160G>T];[0]; p.(Glu1054Ter)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38285839C>A" "" "pathogenic" "" "0000896517" "21" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPGR c.[2405_2406del];[0]; p.(Glu802GlyfsTer32)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000896576" "21" "90" "X" "38146018" "38146019" "del" "0" "00000" "RPGR_000064" "g.38146018_38146019del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPGR c.[2236_2237del];[0]; p.(Glu746ArgfsTer23)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38286765_38286766del" "" "pathogenic" "" "0000896598" "21" "70" "X" "38146261" "38146261" "subst" "0" "00000" "RPGR_000745" "g.38146261G>C" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPGR c.[1991C>G];[0]; p.(Ser664Ter)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38287008G>C" "" "likely pathogenic" "" "0000896618" "21" "90" "X" "38145848" "38145849" "del" "0" "00000" "RPGR_000078" "g.38145848_38145849del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPGR c.[2405_2406del];[0]; p.(Glu802GlyfsTer32)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38286595_38286596del" "" "pathogenic" "" "0000896654" "21" "90" "X" "38176574" "38176574" "dup" "0" "00000" "RPGR_000747" "g.38176574dup" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPGR c.[614dup];[0]; p.(Thr206AsnfsTer5)" "hemizygous" "Germline" "yes" "" "0" "" "" "g.38317321dup" "" "pathogenic" "" "0000896719" "1" "70" "X" "38146014" "38146015" "del" "0" "00000" "RAPSN_000002" "g.38146014_38146015del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "RPGR c.[2237_2238del];[2237_2238=]; p.(Glu746GlyfsTer23)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.38286761_38286762del" "" "likely pathogenic" "" "0000902191" "0" "90" "X" "38144922" "38144923" "del" "0" "01741" "RPGR_000812" "g.38144922_38144923del" "" "" "" "" "hemizygous" "Germline/De novo (untested)" "" "" "0" "" "" "g.38285669_38285670del" "" "pathogenic" "" "0000905503" "20" "70" "X" "38145182" "38145182" "subst" "0" "00000" "RPGR_000655" "g.38145182C>A" "" "{PMID:Marsiglia 2015:25375877}" "" "RPGR c.3070G>T, pGlu1024X" "hemizygous, very likely causative" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38285929C>A" "" "likely pathogenic (recessive)" "" "0000905948" "0" "70" "X" "38170000" "38170000" "subst" "0" "00000" "RPGR_000814" "g.38170000C>A" "" "{PMID:Zhu 2022:35456422}" "" "RPGR c.646G>T, p.Glu216Ter" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38310747C>A" "" "likely pathogenic" "ACMG" "0000905949" "0" "70" "X" "38170000" "38170000" "subst" "0" "00000" "RPGR_000814" "g.38170000C>A" "" "{PMID:Zhu 2022:35456422}" "" "RPGR c.646G>T, p.Glu216Ter" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38310747C>A" "" "likely pathogenic" "ACMG" "0000905950" "0" "90" "X" "38145358" "38145358" "del" "0" "00000" "RPGR_000208" "g.38145358del" "" "{PMID:Zhu 2022:35456422}" "" "RPGR c.2894del, p.Glu965Glyfs*124" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286105del" "" "pathogenic" "ACMG" "0000905951" "0" "90" "X" "38145358" "38145358" "del" "0" "00000" "RPGR_000208" "g.38145358del" "" "{PMID:Zhu 2022:35456422}" "" "RPGR c.2894del, p.Glu965Glyfs*124" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286105del" "" "pathogenic" "ACMG" "0000905960" "0" "90" "X" "38145477" "38145478" "del" "0" "00000" "RPGR_000813" "g.38145477_38145478del" "" "{PMID:Zhu 2022:35456422}" "" "RPGR c.2777_2778del, p.Glu926Glyfs*152" "hemizygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.38286224_38286225del" "" "pathogenic" "ACMG" "0000915707" "0" "50" "X" "38144795" "38144795" "subst" "0" "02327" "RPGR_000815" "g.38144795A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915708" "0" "50" "X" "38145692" "38145692" "subst" "0" "02330" "RPGR_000816" "g.38145692C>G" "" "" "" "RPGR(NM_001034853.2):c.2560G>C (p.G854R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915792" "11" "70" "X" "38156583" "38156584" "del" "0" "04436" "RPGR_000821" "g.38156583_38156584del" "" "{PMID:Panneman 2023:36819107}" "" "c.1367_1368del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915810" "11" "70" "X" "38163887" "38163887" "subst" "0" "04436" "RPGR_000271" "g.38163887C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.934+1G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915865" "11" "90" "X" "38145224" "38145225" "del" "0" "04436" "RPGR_000323" "g.38145224_38145225del" "" "{PMID:Panneman 2023:36819107}" "" "c.3027_3028del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915898" "11" "70" "X" "38156646" "38156647" "del" "0" "04436" "RPGR_000094" "g.38156646_38156647del" "" "{PMID:Panneman 2023:36819107}" "" "c.1304_1305del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915967" "11" "70" "X" "38186591" "38186591" "subst" "0" "04436" "RPGR_000800" "g.38186591A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.28+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915975" "11" "90" "X" "38145927" "38145928" "del" "0" "04436" "RPGR_000817" "g.38145927_38145928del" "" "{PMID:Panneman 2023:36819107}" "" "c.2324_2325del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915991" "11" "70" "X" "38146210" "38146211" "del" "5.62794E-6" "04436" "RPGR_000819" "g.38146210_38146211del" "" "{PMID:Panneman 2023:36819107}" "" "c.2041_2042del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915992" "11" "70" "X" "38146192" "38146195" "del" "0" "04436" "RPGR_000818" "g.38146192_38146195del" "" "{PMID:Panneman 2023:36819107}" "" "c.2057_2060del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915998" "11" "70" "X" "38146210" "38146211" "del" "5.62794E-6" "04436" "RPGR_000819" "g.38146210_38146211del" "" "{PMID:Panneman 2023:36819107}" "" "c.2041_2042del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916040" "11" "90" "X" "38158210" "38158211" "del" "0" "04436" "RPGR_000170" "g.38158210_38158211del" "" "{PMID:Panneman 2023:36819107}" "" "c.1243_1244del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916050" "11" "50" "X" "38178201" "38178201" "subst" "0" "04436" "RPGR_000300" "g.38178201C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.350G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916213" "11" "70" "X" "38163930" "38163931" "del" "0" "04436" "RPGR_000275" "g.38163930_38163931del" "" "{PMID:Panneman 2023:36819107}" "" "c.891_892del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916346" "11" "50" "X" "38147279" "38147279" "subst" "0" "04436" "RPGR_000820" "g.38147279C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1588G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916387" "11" "70" "X" "0" "0" "" "0" "04436" "USP9X_000005" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(1245+1_1246-1)_(*135+?)del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916504" "11" "90" "X" "38169940" "38169940" "subst" "0" "04436" "RPGR_000288" "g.38169940G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.706C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916565" "11" "70" "X" "38163979" "38163980" "del" "0" "04436" "RPGR_000822" "g.38163979_38163980del" "" "{PMID:Panneman 2023:36819107}" "" "c.842_843del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916643" "11" "70" "X" "38182151" "38182151" "subst" "0" "04436" "RPGR_000309" "g.38182151C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.202G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916663" "11" "90" "X" "38158220" "38158220" "subst" "0" "04436" "RPGR_000068" "g.38158220G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1234C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916707" "11" "90" "X" "38145846" "38145847" "del" "0" "04436" "RPGR_000187" "g.38145846_38145847del" "" "{PMID:Panneman 2023:36819107}" "" "c.2405_2406del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916716" "11" "90" "X" "38146379" "38146380" "del" "0" "04436" "RPGR_000403" "g.38146379_38146380del" "" "{PMID:Panneman 2023:36819107}" "" "c.1872_1873del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916743" "11" "90" "X" "38158210" "38158211" "del" "0" "04436" "RPGR_000170" "g.38158210_38158211del" "" "{PMID:Panneman 2023:36819107}" "" "c.1243_1244del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000927360" "0" "70" "X" "38144829" "38144829" "subst" "0" "02327" "RPGR_000823" "g.38144829C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927361" "0" "30" "X" "38170043" "38170043" "subst" "2.83294E-5" "02327" "RPGR_000824" "g.38170043A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927362" "0" "90" "X" "38182157" "38182157" "subst" "0" "02327" "RPGR_000825" "g.38182157G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931404" "0" "50" "X" "38145144" "38145275" "del" "0" "02330" "RPGR_000826" "g.38145144_38145275del" "" "" "" "RPGR(NM_001034853.2):c.2985_3116del (p.E1002_E1045del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931405" "0" "90" "X" "38145160" "38145160" "del" "0" "02327" "RPGR_000179" "g.38145160del" "" "" "" "RPGR(NM_001034853.2):c.3092delA (p.E1031Gfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931406" "0" "90" "X" "38145374" "38145374" "subst" "0" "02327" "RPGR_000827" "g.38145374C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931407" "0" "10" "X" "38145810" "38145824" "del" "0" "02327" "RPGR_000036" "g.38145810_38145824del" "" "" "" "RPGR(NM_001034853.1):c.2447_2461del (p.(Gly816_Glu820del)), RPGR(NM_001034853.1):c.2447_2461delGAGGGGAAGTAGAGG (p.G816_E820del), RPGR(NM_001034853...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931408" "0" "10" "X" "38156584" "38156584" "subst" "0.0084194" "02327" "RPGR_000004" "g.38156584T>C" "" "" "" "RPGR(NM_000328.2):c.1367A>G (p.(Gln456Arg)), RPGR(NM_001034853.1):c.1367A>G (p.Q456R), RPGR(NM_001034853.2):c.1367A>G (p.Q456R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931409" "0" "10" "X" "38182653" "38182653" "subst" "0.000377567" "02327" "RPGR_000056" "g.38182653G>A" "" "" "" "RPGR(NM_001034853.1):c.153C>T (p.T51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931410" "0" "70" "X" "38182776" "38182779" "del" "0" "02327" "RPGR_000128" "g.38182776_38182779del" "" "" "" "RPGR(NM_001034853.2):c.29-2_30delAGAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000933410" "0" "90" "X" "38128900" "38128901" "del" "0" "04552" "RPGR_000828" "g.38128900_38128901del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs730882261" "0" "" "" "g.38269647_38269648del" "{CV:98813}" "pathogenic" "ACMG" "0000933411" "0" "90" "X" "38158242" "38158251" "del" "0" "04552" "RPGR_000829" "g.38158242_38158251del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.38298989_38298998del" "{CV:427872}" "pathogenic" "ACMG" "0000933412" "0" "90" "X" "38163887" "38163887" "subst" "0" "04552" "RPGR_000271" "g.38163887C>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs62640592" "0" "" "" "" "{CV:941626}" "pathogenic" "ACMG" "0000933804" "0" "90" "X" "38132638" "38164044" "del" "0" "04552" "RPGR_000830" "g.(38129086_38132638)_(38164044_38169867)del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "del ex8-18" "" "Germline" "yes" "" "0" "" "" "g.(38269833_38273385)_(38304791_38310614)del" "" "pathogenic" "ACMG" "0000951749" "0" "90" "X" "38145412" "38145412" "del" "0" "02327" "RPGR_000504" "g.38145412del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000952549" "0" "90" "X" "38146392" "38146392" "dup" "0" "03779" "RPGR_000840" "g.38146392dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952550" "0" "90" "X" "38145965" "38145965" "subst" "0" "03779" "RPGR_000839" "g.38145965C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952551" "0" "90" "X" "38145839" "38145839" "del" "0" "03779" "RPGR_000838" "g.38145839del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952552" "0" "90" "X" "38145793" "38145806" "del" "0" "03779" "RPGR_000837" "g.38145793_38145806del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952553" "0" "90" "X" "38145783" "38145787" "del" "0" "03779" "RPGR_000836" "g.38145783_38145787del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952554" "0" "90" "X" "38145704" "38145704" "subst" "0" "03779" "RPGR_000835" "g.38145704C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1601922074" "0" "" "" "" "" "pathogenic" "" "0000952555" "0" "10" "X" "38145533" "38145533" "subst" "0" "03779" "RPGR_000834" "g.38145533C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952556" "0" "90" "X" "38145388" "38145388" "subst" "0" "03779" "RPGR_000833" "g.38145388C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1555961491" "0" "" "" "" "" "pathogenic" "" "0000952557" "0" "90" "X" "38144965" "38144966" "delins" "0" "03779" "RPGR_000832" "g.38144965_38144966delinsG" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952558" "0" "90" "X" "38144944" "38144944" "dup" "0" "03779" "RPGR_000831" "g.38144944dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000952602" "0" "50" "X" "38145533" "38145533" "subst" "0" "03779" "RPGR_000834" "g.38145533C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "conflicting" "" "0000958121" "0" "70" "X" "38145172" "38145173" "del" "0" "00006" "RPGR_000464" "g.38145172_38145173del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.38285919_38285920del" "" "likely pathogenic" "ACMG" "0000958124" "0" "90" "X" "38145182" "38145182" "subst" "0" "00006" "RPGR_000655" "g.38145182C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.38285929C>A" "1275798" "pathogenic" "ACMG" "0000958186" "1" "70" "X" "38145848" "38145849" "del" "0" "00006" "RPGR_000078" "g.38145848_38145849del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5" "Germline" "" "" "0" "" "" "g.38286595_38286596del" "" "likely pathogenic" "ACMG" "0000958189" "0" "70" "X" "38145118" "38145121" "del" "0" "00006" "RPGR_000841" "g.38145118_38145121del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline/De novo (untested)" "" "" "0" "" "" "g.38285865_38285868del" "" "likely pathogenic" "ACMG" "0000958250" "0" "90" "X" "38144879" "38144879" "subst" "0" "00006" "RPGR_000678" "g.38144879G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline/De novo (untested)" "" "" "0" "" "" "g.38285626G>A" "" "pathogenic" "ACMG" "0000958355" "0" "90" "X" "38146416" "38146416" "del" "0" "00006" "RPGR_000846" "g.38146416del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "De novo" "" "" "0" "" "" "g.38287163del" "" "pathogenic" "ACMG" "0000958455" "0" "50" "X" "38145658" "38145660" "del" "0" "00006" "RPGR_000759" "g.38145658_38145660del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.38286405_38286407del" "" "VUS" "ACMG" "0000958791" "0" "70" "X" "38145625" "38145626" "del" "0" "00006" "RPGR_000220" "g.38145625_38145626del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.38286372_38286373del" "" "likely pathogenic" "ACMG" "0000958792" "0" "70" "X" "38146087" "38146087" "del" "0" "00006" "RPGR_000391" "g.38146087del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.38286834del" "" "likely pathogenic" "ACMG" "0000958793" "0" "90" "X" "38145751" "38145751" "del" "0" "00006" "RPGR_000367" "g.38145751del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.38286498del" "" "pathogenic" "ACMG" "0000958794" "0" "70" "X" "38145519" "38145519" "del" "0" "00006" "RPGR_000686" "g.38145519del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.38286266del" "" "likely pathogenic" "ACMG" "0000958795" "0" "70" "X" "38146018" "38146019" "del" "0" "00006" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "438142" "likely pathogenic" "ACMG" "0000958796" "0" "70" "X" "38146018" "38146019" "del" "0" "00006" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "438142" "likely pathogenic" "ACMG" "0000958798" "0" "90" "X" "38178174" "38178174" "del" "0" "00006" "RPGR_000849" "g.38178174del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38318921del" "" "pathogenic" "ACMG" "0000958799" "0" "70" "X" "38170002" "38170002" "subst" "0" "00006" "RPGR_000290" "g.38170002C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.38310749C>A" "" "likely pathogenic" "ACMG" "0000958801" "0" "90" "X" "38145203" "38145203" "subst" "0" "00006" "RPGR_000105" "g.38145203C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.38285950C>A" "" "pathogenic" "ACMG" "0000958803" "0" "90" "X" "38156671" "38156672" "del" "0" "00006" "RPGR_000140" "g.38156671_38156672del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38297418_38297419del" "" "pathogenic" "ACMG" "0000958804" "0" "90" "X" "38145780" "38145781" "del" "0" "00006" "RPGR_000371" "g.38145780_38145781del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.38286527_38286528del" "" "pathogenic" "ACMG" "0000958805" "0" "70" "X" "38146018" "38146019" "del" "0" "00006" "RPGR_000064" "g.38146018_38146019del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.38286765_38286766del" "438142" "likely pathogenic" "ACMG" "0000958806" "0" "90" "X" "38145563" "38145563" "subst" "0" "00006" "RPGR_000687" "g.38145563C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38286310C>A" "" "pathogenic" "ACMG" "0000958807" "0" "70" "X" "38164048" "38164048" "subst" "0" "00006" "RPGR_000280" "g.38164048A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4" "Germline" "" "" "0" "" "" "g.38304795A>C" "" "likely pathogenic" "ACMG" "0000958809" "1" "70" "X" "38145470" "38145472" "delins" "0" "00006" "RPGR_000843" "g.38145470_38145472delinsATTCCTCTCCTTCCTCCTC" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.38286217_38286219delinsATTCCTCTCCTTCCTCCTC" "" "likely pathogenic" "ACMG" "0000958810" "20" "70" "X" "38147306" "38147306" "subst" "0" "00006" "RPGR_000116" "g.38147306T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PS3" "Germline/De novo (untested)" "" "" "0" "" "" "g.38288053T>C" "" "likely pathogenic" "ACMG" "0000958811" "20" "70" "X" "38145933" "38145934" "del" "0" "00006" "RPGR_000380" "g.38145933_38145934del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.38286680_38286681del" "" "likely pathogenic" "ACMG" "0000958813" "0" "90" "X" "38145751" "38145751" "del" "0" "00006" "RPGR_000367" "g.38145751del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38286498del" "" "pathogenic" "ACMG" "0000958816" "0" "90" "X" "38145490" "38145491" "del" "0" "00006" "RPGR_000214" "g.38145490_38145491del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.38286237_38286238del" "" "pathogenic" "ACMG" "0000958817" "0" "90" "X" "38145704" "38145704" "subst" "0" "00006" "RPGR_000835" "g.38145704C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38286451C>A" "" "pathogenic" "ACMG" "0000958818" "0" "90" "X" "38158239" "38158240" "del" "0" "00006" "RPGR_000420" "g.38158239_38158240del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38298986_38298987del" "975132" "pathogenic" "ACMG" "0000958819" "0" "70" "X" "38146319" "38146320" "ins" "0" "00006" "RPGR_000524" "g.38146319_38146320insG" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.38287066_38287067insG" "1184953" "likely pathogenic" "ACMG" "0000958820" "0" "90" "X" "38182778" "38182778" "subst" "0" "00006" "RPGR_000642" "g.38182778C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.38323525C>A" "813233" "pathogenic" "ACMG" "0000958822" "0" "90" "X" "38184601" "38194323" "delins" "0" "00006" "RPGR_000000" "g.38184601_38194323delinsTACACAG" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000958823" "0" "90" "X" "38146034" "38146034" "subst" "0" "00006" "RPGR_000386" "g.38146034C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38286781C>A" "1275779" "pathogenic" "ACMG" "0000958825" "0" "90" "X" "38155887" "38157988" "del" "0" "00006" "RPGR_000847" "g.38155887_38157988del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.38296634_38298735del" "" "pathogenic" "ACMG" "0000958843" "0" "50" "X" "38145658" "38145660" "del" "0" "00006" "RPGR_000759" "g.38145658_38145660del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.38286405_38286407del" "" "VUS" "ACMG" "0000958865" "0" "50" "X" "38145992" "38145992" "subst" "0" "00006" "RPGR_000845" "g.38145992C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.38286739C>T" "" "VUS" "ACMG" "0000958989" "21" "50" "X" "38176571" "38176571" "subst" "0" "00006" "RPGR_000848" "g.38176571G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.38317318G>T" "" "VUS" "ACMG" "0000959081" "0" "50" "X" "38145157" "38145168" "del" "0" "00006" "RPGR_000842" "g.38145157_38145168del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.38285904_38285915del" "" "VUS" "ACMG" "0000959263" "0" "50" "X" "38145588" "38145619" "delins" "0" "00006" "RPGR_000844" "g.38145588_38145619delinsCCCTTCTT" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.38286335_38286366delinsCCCTTCTT" "" "VUS" "ACMG" "0000959282" "0" "50" "X" "38145658" "38145660" "del" "0" "00006" "RPGR_000759" "g.38145658_38145660del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.38286405_38286407del" "" "VUS" "ACMG" "0000971058" "0" "10" "X" "38131859" "38131860" "dup" "0" "02329" "RPGR_000141" "g.38131859_38131860dup" "" "" "" "RPGR(NM_000328.3):c.2241+792_2241+793dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000971060" "0" "90" "X" "38145256" "38145260" "del" "0" "02327" "RPGR_000205" "g.38145256_38145260del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000971061" "0" "30" "X" "38145357" "38145357" "subst" "0" "02330" "RPGR_000850" "g.38145357C>T" "" "" "" "RPGR(NM_001034853.2):c.2895G>A (p.E965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971063" "0" "50" "X" "38164016" "38164016" "subst" "0" "02327" "RPGR_000473" "g.38164016C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984658" "0" "50" "X" "38145534" "38145536" "dup" "0" "01804" "RPGR_000851" "g.38145534_38145536dup" "" "" "" "RPGR(NM_001034853.2):c.2718_2720dup (p.(Glu907dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984659" "0" "30" "X" "38150286" "38150286" "subst" "0" "01804" "RPGR_000042" "g.38150286A>G" "" "" "" "RPGR(NM_001034853.1):c.1507-9T>C, RPGR(NM_001034853.2):c.1507-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984660" "0" "30" "X" "38156653" "38156653" "subst" "5.60202E-6" "01804" "RPGR_000852" "g.38156653C>T" "" "" "" "RPGR(NM_001034853.2):c.1298G>A (p.(Gly433Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986583" "1" "90" "X" "38145076" "38145077" "del" "0" "04405" "RPGR_000199" "g.38145076_38145077del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.38285823_38285824del" "" "pathogenic" "ACMG" "0000986584" "1" "70" "X" "38144870" "38144870" "subst" "0" "04405" "RPGR_000853" "g.38144870G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.38285617G>A" "" "likely pathogenic" "ACMG" "0000986585" "1" "90" "X" "38145463" "38145464" "del" "0" "04405" "RPGR_000162" "g.38145463_38145464del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.38286210_38286211del" "" "pathogenic" "ACMG" "0000986586" "1" "70" "X" "38145505" "38145511" "del" "0" "04405" "RPGR_000855" "g.38145505_38145511del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.38286252_38286258del" "" "likely pathogenic" "ACMG" "0000986587" "1" "70" "X" "38145113" "38145113" "subst" "0" "04405" "RPGR_000854" "g.38145113C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.38285860C>A" "" "likely pathogenic" "ACMG" "0000986588" "1" "70" "X" "38145158" "38145159" "del" "0" "04405" "RPGR_000159" "g.38145158_38145159del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.38285905_38285906del" "" "likely pathogenic" "ACMG" "0001006732" "0" "30" "X" "38150700" "38150700" "subst" "0" "01804" "RPGR_000856" "g.38150700T>C" "" "" "" "RPGR(NM_001034853.1):c.1452A>G (p.(Ile484Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006733" "0" "70" "X" "38164008" "38164008" "subst" "0" "02330" "RPGR_000518" "g.38164008C>T" "" "" "" "RPGR(NM_001034853.2):c.814G>A (p.G272S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027491" "0" "70" "X" "38178162" "38178162" "subst" "0" "02327" "RPGR_000127" "g.38178162A>C" "" "" "" "RPGR(NM_001034853.1):c.389T>G (p.F130C), RPGR(NM_001034853.2):c.389T>G (p.F130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044311" "0" "30" "X" "38145201" "38145203" "del" "0" "01804" "RPGR_000857" "g.38145201_38145203del" "" "" "" "RPGR(NM_001034853.2):c.3051_3053del (p.(Glu1018del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044312" "0" "30" "X" "38145351" "38145353" "del" "0" "01804" "RPGR_000858" "g.38145351_38145353del" "" "" "" "RPGR(NM_001034853.2):c.2901_2903del (p.(Glu969del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044313" "0" "50" "X" "38145375" "38145377" "del" "0" "01804" "RPGR_000859" "g.38145375_38145377del" "" "" "" "RPGR(NM_001034853.2):c.2880_2882del (p.(Glu961del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044314" "0" "30" "X" "38145920" "38145922" "del" "0" "01804" "RPGR_000860" "g.38145920_38145922del" "" "" "" "RPGR(NM_001034853.2):c.2334_2336del (p.(Glu779del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044315" "0" "30" "X" "38156655" "38156655" "subst" "0.00184882" "01804" "RPGR_000808" "g.38156655T>A" "" "" "" "RPGR(NM_001034853.2):c.1296A>T (p.(Glu432Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044316" "0" "30" "X" "38176636" "38176636" "subst" "0.00541737" "01804" "RPGR_000861" "g.38176636C>A" "" "" "" "RPGR(NM_001034853.2):c.552G>T (p.(Gln184His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 RPGR ## Count = 2989 "{{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}}" "0000000153" "00023832" "90" "3009" "0" "3038" "0" "c.3009 _3038del" "r.?" "p.(Gly1005_Glu1014del)" "12" "0000000231" "00023832" "90" "2237" "0" "2238" "0" "c.2237_2238del" "r.(?)" "p.(Glu746Glyfs*23)" "15" "0000001862" "00023832" "50" "778" "90" "778" "90" "c.778+90dup" "r.(=)" "p.(=)" "7i" "0000001862" "00000592" "50" "778" "90" "778" "90" "c.778+90dup" "r.(=)" "p.(=)" "7i" "0000002881" "00023832" "50" "778" "90" "778" "90" "c.778+90dup" "r.(=)" "p.(=)" "" "0000002881" "00000592" "50" "778" "90" "778" "90" "c.778+90dup" "r.(=)" "p.(=)" "" "0000006594" "00000592" "50" "2241" "11" "2241" "11" "c.2241+11T>C" "r.(=)" "p.(=)" "" "0000006595" "00023832" "50" "4187" "0" "4187" "0" "c.*728T>C" "r.(?)" "p.(=)" "?" "0000006595" "00000592" "50" "1905" "2282" "1905" "2282" "c.1905+2282T>C" "r.(?)" "p.(=)" "15i" "0000006596" "00023832" "50" "935" "-71" "935" "-71" "c.935-71G>A" "r.(?)" "p.(=)" "8i" "0000006596" "00000592" "50" "935" "-71" "935" "-71" "c.935-71G>A" "r.(?)" "p.(=)" "8i" "0000006597" "00023832" "50" "619" "308" "619" "308" "c.619+308T>G" "r.(?)" "p.(=)" "6i" "0000006597" "00000592" "50" "619" "308" "619" "308" "c.619+308T>G" "r.(?)" "p.(=)" "6i" "0000006598" "00023832" "50" "469" "115" "469" "115" "c.469+115A>G" "r.(?)" "p.(=)" "5i" "0000006598" "00000592" "50" "469" "115" "469" "115" "c.469+115A>G" "r.(?)" "p.(=)" "5i" "0000008652" "00023832" "50" "4187" "0" "4187" "0" "c.*728T>C" "r.(?)" "p.(=)" "?" "0000008652" "00000592" "50" "1905" "2282" "1905" "2282" "c.1905+2282T>C" "r.(?)" "p.(=)" "15i" "0000008653" "00023832" "50" "935" "-71" "935" "-71" "c.935-71G>A" "r.(?)" "p.(=)" "8i" "0000008653" "00000592" "50" "935" "-71" "935" "-71" "c.935-71G>A" "r.(?)" "p.(=)" "8i" "0000008654" "00023832" "50" "778" "90" "778" "90" "c.778+90dup" "r.(=)" "p.(=)" "7i" "0000008654" "00000592" "50" "778" "90" "778" "90" "c.778+90dup" "r.(=)" "p.(=)" "7i" "0000008655" "00023832" "50" "469" "115" "469" "115" "c.469+115A>G" "r.(?)" "p.(=)" "6i" "0000008655" "00000592" "50" "469" "115" "469" "115" "c.469+115A>G" "r.(?)" "p.(=)" "5i" "0000010881" "00023832" "50" "778" "90" "778" "90" "c.778+90dup" "r.(=)" "p.(=)" "" "0000010881" "00000592" "50" "778" "90" "778" "90" "c.778+90dup" "r.(=)" "p.(=)" "" "0000014560" "00000592" "50" "2241" "11" "2241" "11" "c.2241+11T>C" "r.(=)" "p.(=)" "" "0000014561" "00000592" "50" "2150" "-266" "2150" "-266" "c.2150-266T>A" "r.(=)" "p.(=)" "" "0000014564" "00023832" "50" "619" "308" "619" "308" "c.619+308T>G" "r.(?)" "p.(=)" "6i" "0000014564" "00000592" "50" "619" "308" "619" "308" "c.619+308T>G" "r.(?)" "p.(=)" "6i" "0000019479" "00023832" "95" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000019479" "00000592" "95" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000019502" "00023832" "55" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Gln720*)" "?" "0000019502" "00000592" "55" "1905" "253" "1905" "253" "c.1905+253C>T" "r.(?)" "p.(?)" "15i" "0000019505" "00023832" "95" "1375" "0" "1376" "0" "c.1375_1376del" "r.(?)" "p.(Val459Leufs*3)" "11" "0000019505" "00000592" "95" "1375" "0" "1376" "0" "c.1375_1376del" "r.(?)" "p.(Val459Leufs*3)" "11" "0000060434" "00023832" "50" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.=" "10" "0000060434" "00000592" "50" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.=" "10" "0000060435" "00023832" "50" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000060435" "00000592" "50" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000060436" "00023832" "50" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "11" "0000060436" "00000592" "50" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "11" "0000060437" "00023832" "50" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "11" "0000060437" "00000592" "50" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "11" "0000060438" "00023832" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "11" "0000060438" "00000592" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "11" "0000060439" "00023832" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "11" "0000060439" "00000592" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "11" "0000060440" "00023832" "50" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000060440" "00000592" "50" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000060441" "00023832" "50" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000060441" "00000592" "50" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000060442" "00023832" "50" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.=" "7" "0000060442" "00000592" "50" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.=" "7" "0000060443" "00023832" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "14" "0000060443" "00000592" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "14" "0000060444" "00023832" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "14" "0000060444" "00000592" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "14" "0000060445" "00023832" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "14" "0000060445" "00000592" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "14" "0000060446" "00023832" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "14" "0000060446" "00000592" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "14" "0000060447" "00000592" "70" "1793" "0" "1794" "0" "c.1793_1794insT" "r.(?)" "p.(Asn599Lysfs*12)" "15" "0000060448" "00023832" "10" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ile75Val)" "3" "0000060448" "00000592" "10" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ile75Val)" "3" "0000170927" "00023832" "90" "762" "0" "777" "0" "c.762_777delinsCA" "r.(?)" "p.(Thr255Argfs*23)" "7" "0000170927" "00000592" "90" "762" "0" "777" "0" "c.762_777delinsCA" "r.(?)" "p.(Thr255Argfs*23)" "7" "0000247745" "00023832" "10" "310" "10" "310" "10" "c.310+10T>C" "r.(=)" "p.(=)" "" "0000247745" "00000592" "10" "310" "10" "310" "10" "c.310+10T>C" "r.(=)" "p.(=)" "" "0000255011" "00023832" "30" "141" "0" "141" "0" "c.141T>G" "r.(?)" "p.(Ser47=)" "" "0000255011" "00000592" "30" "141" "0" "141" "0" "c.141T>G" "r.(?)" "p.(Ser47=)" "" "0000255342" "00023832" "30" "1507" "-9" "1507" "-9" "c.1507-9T>C" "r.(=)" "p.(=)" "" "0000255342" "00000592" "30" "1507" "-9" "1507" "-9" "c.1507-9T>C" "r.(=)" "p.(=)" "" "0000294998" "00023832" "10" "1059" "6" "1059" "6" "c.1059+6G>A" "r.(=)" "p.(=)" "" "0000294998" "00000592" "10" "1059" "6" "1059" "6" "c.1059+6G>A" "r.(=)" "p.(=)" "" "0000294999" "00023832" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000294999" "00000592" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000295000" "00023832" "10" "1608" "0" "1608" "0" "c.1608A>T" "r.(?)" "p.(Thr536=)" "" "0000295000" "00000592" "10" "1608" "0" "1608" "0" "c.1608A>T" "r.(?)" "p.(Thr536=)" "" "0000295001" "00023832" "30" "1754" "-10" "1754" "-10" "c.1754-10C>G" "r.(=)" "p.(=)" "" "0000295001" "00000592" "30" "1754" "-10" "1754" "-10" "c.1754-10C>G" "r.(=)" "p.(=)" "" "0000295002" "00023832" "50" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000295002" "00000592" "50" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000295003" "00023832" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Ala74=)" "" "0000295003" "00000592" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Ala74=)" "" "0000295004" "00023832" "10" "19248" "0" "19248" "0" "c.*15789A>G" "r.(=)" "p.(=)" "" "0000295004" "00000592" "10" "2323" "0" "2323" "0" "c.2323A>G" "r.(?)" "p.(Ile775Val)" "" "0000295005" "00023832" "10" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000295005" "00000592" "10" "1905" "542" "1905" "556" "c.1905+542_1905+556del" "r.(=)" "p.(=)" "" "0000295007" "00023832" "90" "3150" "0" "3151" "0" "c.3150_3151del" "r.(?)" "p.(Glu1051ArgfsTer27)" "" "0000295007" "00000592" "90" "1905" "1245" "1905" "1246" "c.1905+1245_1905+1246del" "r.(=)" "p.(=)" "" "0000295008" "00023832" "90" "3212" "0" "3218" "0" "c.3212_3218del" "r.(?)" "p.(Glu1071AlafsTer16)" "" "0000295008" "00000592" "90" "1905" "1307" "1905" "1313" "c.1905+1307_1905+1313del" "r.(=)" "p.(=)" "" "0000295009" "00023832" "10" "3407" "0" "3407" "0" "c.3407G>A" "r.(?)" "p.(Gly1136Asp)" "" "0000295009" "00000592" "10" "1905" "1502" "1905" "1502" "c.1905+1502G>A" "r.(=)" "p.(=)" "" "0000295010" "00023832" "90" "469" "1" "469" "1" "c.469+1G>T" "r.spl?" "p.?" "" "0000295010" "00000592" "90" "469" "1" "469" "1" "c.469+1G>T" "r.spl?" "p.?" "" "0000295011" "00023832" "50" "469" "3" "469" "3" "c.469+3G>C" "r.spl?" "p.?" "" "0000295011" "00000592" "50" "469" "3" "469" "3" "c.469+3G>C" "r.spl?" "p.?" "" "0000295012" "00023832" "10" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Lys244=)" "" "0000295012" "00000592" "10" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Lys244=)" "" "0000295013" "00023832" "10" "779" "-16" "779" "-16" "c.779-16G>T" "r.(=)" "p.(=)" "" "0000295013" "00000592" "10" "779" "-16" "779" "-16" "c.779-16G>T" "r.(=)" "p.(=)" "" "0000295014" "00023832" "10" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000295014" "00000592" "10" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000307312" "00023832" "50" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "" "0000307312" "00000592" "50" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "" "0000307313" "00023832" "30" "1273" "0" "1273" "0" "c.1273A>G" "r.(?)" "p.(Arg425Gly)" "" "0000307313" "00000592" "30" "1273" "0" "1273" "0" "c.1273A>G" "r.(?)" "p.(Arg425Gly)" "" "0000307314" "00023832" "30" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000307314" "00000592" "30" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000307315" "00023832" "30" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Thr51=)" "" "0000307315" "00000592" "30" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Thr51=)" "" "0000307316" "00023832" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "" "0000307316" "00000592" "50" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "" "0000307317" "00023832" "30" "15594" "0" "15594" "0" "c.*12135A>G" "r.(=)" "p.(=)" "" "0000307317" "00000592" "30" "2222" "0" "2222" "0" "c.2222A>G" "r.(?)" "p.(Asp741Gly)" "" "0000307318" "00023832" "30" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Ala74=)" "" "0000307318" "00000592" "30" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Ala74=)" "" "0000307319" "00023832" "30" "19192" "0" "19192" "0" "c.*15733C>T" "r.(=)" "p.(=)" "" "0000307319" "00000592" "30" "2267" "0" "2267" "0" "c.2267C>T" "r.(?)" "p.(Ser756Leu)" "" "0000307320" "00023832" "30" "19273" "0" "19273" "0" "c.*15814G>A" "r.(=)" "p.(=)" "" "0000307320" "00000592" "30" "2348" "0" "2348" "0" "c.2348G>A" "r.(?)" "p.(Ser783Asn)" "" "0000307321" "00023832" "50" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "" "0000307321" "00000592" "50" "1905" "636" "1905" "656" "c.1905+636_1905+656del" "r.(=)" "p.(=)" "" "0000307322" "00023832" "30" "3402" "0" "3402" "0" "c.3402A>C" "r.(?)" "p.(Pro1134=)" "" "0000307322" "00000592" "30" "1905" "1497" "1905" "1497" "c.1905+1497A>C" "r.(=)" "p.(=)" "" "0000307323" "00023832" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Glu125Lys)" "" "0000307323" "00000592" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Glu125Lys)" "" "0000307324" "00023832" "30" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Val132Ile)" "" "0000307324" "00000592" "30" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Val132Ile)" "" "0000307325" "00023832" "90" "469" "1" "469" "1" "c.469+1G>T" "r.spl?" "p.?" "" "0000307325" "00000592" "90" "469" "1" "469" "1" "c.469+1G>T" "r.spl?" "p.?" "" "0000307326" "00023832" "30" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Lys244=)" "" "0000307326" "00000592" "30" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Lys244=)" "" "0000333743" "00023832" "50" "2919" "0" "2939" "0" "c.2919_2939dup" "r.(?)" "p.(Gly977_Glu983dup)" "" "0000333743" "00000592" "50" "1905" "1014" "1905" "1034" "c.1905+1014_1905+1034dup" "r.(=)" "p.(=)" "" "0000333744" "00023832" "50" "2820" "0" "2840" "0" "c.2820_2840dup" "r.(?)" "p.(Asp943_Glu949dup)" "" "0000333744" "00000592" "50" "1905" "915" "1905" "935" "c.1905+915_1905+935dup" "r.(=)" "p.(=)" "" "0000333745" "00023832" "30" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "" "0000333745" "00000592" "30" "1905" "636" "1905" "656" "c.1905+636_1905+656del" "r.(=)" "p.(=)" "" "0000333746" "00023832" "50" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000333746" "00000592" "50" "1905" "542" "1905" "556" "c.1905+542_1905+556del" "r.(=)" "p.(=)" "" "0000333747" "00023832" "50" "2228" "0" "2228" "0" "c.2228G>T" "r.(?)" "p.(Gly743Val)" "" "0000333747" "00000592" "50" "1905" "323" "1905" "323" "c.1905+323G>T" "r.(=)" "p.(=)" "" "0000333748" "00023832" "50" "2057" "0" "2057" "0" "c.2057T>A" "r.(?)" "p.(Met686Lys)" "" "0000333748" "00000592" "50" "1905" "152" "1905" "152" "c.1905+152T>A" "r.(=)" "p.(=)" "" "0000333749" "00023832" "30" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gly618Arg)" "" "0000333749" "00000592" "30" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gly618Arg)" "" "0000342853" "00023832" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000342853" "00000592" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000344515" "00023832" "90" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Gln118Arg)" "" "0000344515" "00000592" "90" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Gln118Arg)" "" "0000345522" "00023832" "90" "2101" "0" "2101" "0" "c.2101G>T" "r.(?)" "p.(Glu701Ter)" "" "0000345522" "00000592" "90" "1905" "196" "1905" "196" "c.1905+196G>T" "r.(=)" "p.(=)" "" "0000345602" "00023832" "90" "2947" "0" "2947" "0" "c.2947G>T" "r.(?)" "p.(Glu983Ter)" "" "0000345602" "00000592" "90" "1905" "1042" "1905" "1042" "c.1905+1042G>T" "r.(=)" "p.(=)" "" "0000346356" "00023832" "90" "3300" "0" "3301" "0" "c.3300_3301del" "r.(?)" "p.(His1100GlnfsTer10)" "" "0000346356" "00000592" "90" "1905" "1395" "1905" "1396" "c.1905+1395_1905+1396del" "r.(=)" "p.(=)" "" "0000346579" "00023832" "90" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Ile142LeufsTer14)" "" "0000346579" "00000592" "90" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Ile142LeufsTer14)" "" "0000477347" "00000592" "50" "2057" "0" "2057" "0" "c.2057C>T" "r.(?)" "p.(Thr686Ile)" "" "0000477348" "00023832" "50" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Val1144Ile)" "" "0000477348" "00000592" "50" "1905" "1525" "1905" "1525" "c.1905+1525G>A" "r.(=)" "p.(=)" "" "0000477349" "00023832" "90" "3202" "0" "3202" "0" "c.3202A>T" "r.(?)" "p.(Lys1068*)" "" "0000477349" "00000592" "90" "1905" "1297" "1905" "1297" "c.1905+1297A>T" "r.(=)" "p.(=)" "" "0000477350" "00023832" "50" "3189" "0" "3191" "0" "c.3189_3191del" "r.(?)" "p.(Glu1066del)" "" "0000477350" "00000592" "50" "1905" "1284" "1905" "1286" "c.1905+1284_1905+1286del" "r.(=)" "p.(=)" "" "0000477351" "00023832" "50" "3123" "0" "3125" "0" "c.3123_3125del" "r.(?)" "p.(Glu1042del)" "" "0000477351" "00000592" "50" "1905" "1218" "1905" "1220" "c.1905+1218_1905+1220del" "r.(=)" "p.(=)" "" "0000477352" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000477352" "00000592" "90" "1905" "500" "1905" "501" "c.1905+500_1905+501del" "r.(=)" "p.(=)" "" "0000477353" "00023832" "50" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Ala781Val)" "" "0000477353" "00000592" "50" "1905" "437" "1905" "437" "c.1905+437C>T" "r.(=)" "p.(=)" "" "0000477354" "00023832" "10" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Ala781Thr)" "" "0000477354" "00000592" "10" "1905" "436" "1905" "436" "c.1905+436G>A" "r.(=)" "p.(=)" "" "0000477355" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000477355" "00000592" "90" "1905" "331" "1905" "332" "c.1905+331_1905+332del" "r.(=)" "p.(=)" "" "0000477356" "00023832" "90" "2153" "0" "2153" "0" "c.2153del" "r.(?)" "p.(Gly718Alafs*97)" "" "0000477356" "00000592" "90" "1905" "249" "1905" "249" "c.1905+249del" "r.(=)" "p.(=)" "" "0000477357" "00023832" "90" "2073" "0" "2080" "0" "c.2073_2080dup" "r.(?)" "p.(Lys694Argfs*6)" "" "0000477357" "00000592" "90" "1905" "168" "1905" "175" "c.1905+168_1905+175dup" "r.(=)" "p.(=)" "" "0000477358" "00023832" "90" "2003" "0" "2003" "0" "c.2003del" "r.(?)" "p.(His668Profs*29)" "" "0000477358" "00000592" "90" "1905" "98" "1905" "98" "c.1905+98del" "r.(=)" "p.(=)" "" "0000477359" "00023832" "50" "1983" "0" "1983" "0" "c.1983A>C" "r.(?)" "p.(Glu661Asp)" "" "0000477359" "00000592" "50" "1905" "78" "1905" "78" "c.1905+78A>C" "r.(=)" "p.(=)" "" "0000477360" "00023832" "50" "1957" "0" "1957" "0" "c.1957G>A" "r.(?)" "p.(Gly653Ser)" "" "0000477360" "00000592" "50" "1905" "52" "1905" "52" "c.1905+52G>A" "r.(=)" "p.(=)" "" "0000477361" "00023832" "50" "1728" "0" "1729" "0" "c.1728_1729insATGACGCAT" "r.(?)" "p.(Ile576_Glu577insMetThrHis)" "" "0000477361" "00000592" "50" "1728" "0" "1729" "0" "c.1728_1729insATGACGCAT" "r.(?)" "p.(Ile576_Glu577insMetThrHis)" "" "0000477362" "00023832" "50" "1726" "0" "1726" "0" "c.1726A>T" "r.(?)" "p.(Ile576Phe)" "" "0000477362" "00000592" "50" "1726" "0" "1726" "0" "c.1726A>T" "r.(?)" "p.(Ile576Phe)" "" "0000477363" "00023832" "90" "1724" "0" "1725" "0" "c.1724_1725insGCATGAAGCAT" "r.(?)" "p.(Ile576Hisfs*13)" "" "0000477363" "00000592" "90" "1724" "0" "1725" "0" "c.1724_1725insGCATGAAGCAT" "r.(?)" "p.(Ile576Hisfs*13)" "" "0000477364" "00023832" "90" "1721" "0" "1722" "0" "c.1721_1722insAT" "r.(?)" "p.(Thr575*)" "" "0000477364" "00000592" "90" "1721" "0" "1722" "0" "c.1721_1722insAT" "r.(?)" "p.(Thr575*)" "" "0000477365" "00023832" "50" "1720" "0" "1720" "0" "c.1720A>T" "r.(?)" "p.(Thr574Ser)" "" "0000477365" "00000592" "50" "1720" "0" "1720" "0" "c.1720A>T" "r.(?)" "p.(Thr574Ser)" "" "0000477366" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "" "0000477366" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "" "0000477367" "00023832" "90" "1642" "0" "1642" "0" "c.1642G>T" "r.(?)" "p.(Glu548*)" "" "0000477367" "00000592" "90" "1642" "0" "1642" "0" "c.1642G>T" "r.(?)" "p.(Glu548*)" "" "0000477368" "00023832" "90" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Gln523*)" "" "0000477368" "00000592" "90" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Gln523*)" "" "0000477369" "00023832" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Gln521*)" "" "0000477369" "00000592" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Gln521*)" "" "0000477370" "00023832" "90" "1304" "0" "1305" "0" "c.1304_1305del" "r.(?)" "p.(Leu435Argfs*17)" "" "0000477370" "00000592" "90" "1304" "0" "1305" "0" "c.1304_1305del" "r.(?)" "p.(Leu435Argfs*17)" "" "0000477371" "00023832" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "" "0000477371" "00000592" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "" "0000477372" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "" "0000477372" "00000592" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "" "0000477373" "00023832" "50" "1125" "0" "1125" "0" "c.1125T>G" "r.(?)" "p.(Ile375Met)" "" "0000477373" "00000592" "50" "1125" "0" "1125" "0" "c.1125T>G" "r.(?)" "p.(Ile375Met)" "" "0000477374" "00023832" "90" "1077" "0" "1077" "0" "c.1077T>A" "r.(?)" "p.(Cys359*)" "" "0000477374" "00000592" "90" "1077" "0" "1077" "0" "c.1077T>A" "r.(?)" "p.(Cys359*)" "" "0000477375" "00023832" "50" "1048" "0" "1048" "0" "c.1048A>G" "r.(?)" "p.(Ile350Val)" "" "0000477375" "00000592" "50" "1048" "0" "1048" "0" "c.1048A>G" "r.(?)" "p.(Ile350Val)" "" "0000477376" "00023832" "90" "935" "-2" "935" "-2" "c.935-2A>G" "r.spl?" "p.?" "" "0000477376" "00000592" "90" "935" "-2" "935" "-2" "c.935-2A>G" "r.spl?" "p.?" "" "0000477377" "00023832" "90" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Cys302Tyr)" "" "0000477377" "00000592" "90" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Cys302Tyr)" "" "0000477378" "00023832" "50" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000477378" "00000592" "50" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000477379" "00000592" "90" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Thr255Ile)" "" "0000477380" "00023832" "90" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Phe130Serfs*4)" "" "0000477380" "00000592" "90" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Phe130Serfs*4)" "" "0000477381" "00023832" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Thr99Ile)" "" "0000477381" "00000592" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Thr99Ile)" "" "0000477382" "00023832" "90" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "" "0000477382" "00000592" "90" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "" "0000477383" "00023832" "90" "28" "5" "28" "5" "c.28+5G>A" "r.spl?" "p.?" "" "0000477383" "00000592" "90" "28" "5" "28" "5" "c.28+5G>A" "r.spl?" "p.?" "" "0000477609" "00023832" "50" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Val1144Ile)" "" "0000477609" "00000592" "50" "1905" "1525" "1905" "1525" "c.1905+1525G>A" "r.(=)" "p.(=)" "" "0000477610" "00023832" "90" "2073" "0" "2080" "0" "c.2073_2080dup" "r.(?)" "p.(Lys694Argfs*6)" "" "0000477610" "00000592" "90" "1905" "168" "1905" "175" "c.1905+168_1905+175dup" "r.(=)" "p.(=)" "" "0000477611" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "" "0000477611" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "" "0000477612" "00023832" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "" "0000477612" "00000592" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "" "0000477613" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "" "0000477613" "00000592" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "" "0000477614" "00023832" "50" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000477614" "00000592" "50" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000484103" "00023832" "90" "3049" "0" "3049" "0" "c.3049G>T" "r.(?)" "p.(Glu1017*)" "" "0000487579" "00023832" "90" "1859" "0" "1860" "0" "c.1859_1860del" "r.(?)" "p.(Lys620Argfs*9)" "12" "0000499709" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "12" "0000575816" "00023832" "30" "19290" "0" "19290" "0" "c.*15831G>A" "r.(=)" "p.(=)" "" "0000575816" "00000592" "30" "2365" "0" "2365" "0" "c.2365G>A" "r.(?)" "p.(Asp789Asn)" "" "0000575817" "00023832" "30" "19149" "0" "19149" "0" "c.*15690G>A" "r.(=)" "p.(=)" "" "0000575817" "00000592" "30" "2242" "-18" "2242" "-18" "c.2242-18G>A" "r.(=)" "p.(=)" "" "0000575818" "00023832" "30" "12381" "0" "12381" "0" "c.*8922A>G" "r.(=)" "p.(=)" "" "0000575818" "00000592" "30" "2060" "0" "2060" "0" "c.2060A>G" "r.(?)" "p.(Asn687Ser)" "" "0000575819" "00023832" "30" "3231" "0" "3231" "0" "c.3231T>A" "r.(?)" "p.(Asn1077Lys)" "" "0000575819" "00000592" "30" "1905" "1326" "1905" "1326" "c.1905+1326T>A" "r.(=)" "p.(=)" "" "0000575820" "00023832" "30" "3189" "0" "3191" "0" "c.3189_3191del" "r.(?)" "p.(Glu1066del)" "" "0000575820" "00000592" "30" "1905" "1284" "1905" "1286" "c.1905+1284_1905+1286del" "r.(=)" "p.(=)" "" "0000575823" "00023832" "10" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "" "0000575823" "00000592" "10" "1905" "636" "1905" "656" "c.1905+636_1905+656del" "r.(=)" "p.(=)" "" "0000575824" "00023832" "30" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000575824" "00000592" "30" "1905" "542" "1905" "556" "c.1905+542_1905+556del" "r.(=)" "p.(=)" "" "0000575825" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746ArgfsTer23)" "" "0000575825" "00000592" "90" "1905" "331" "1905" "332" "c.1905+331_1905+332del" "r.(=)" "p.(=)" "" "0000575826" "00023832" "30" "2228" "0" "2228" "0" "c.2228G>T" "r.(?)" "p.(Gly743Val)" "" "0000575826" "00000592" "30" "1905" "323" "1905" "323" "c.1905+323G>T" "r.(=)" "p.(=)" "" "0000575827" "00023832" "90" "2068" "0" "2068" "0" "c.2068G>T" "r.(?)" "p.(Gly690Ter)" "" "0000575827" "00000592" "90" "1905" "163" "1905" "163" "c.1905+163G>T" "r.(=)" "p.(=)" "" "0000575828" "00023832" "10" "2057" "0" "2057" "0" "c.2057T>A" "r.(?)" "p.(Met686Lys)" "" "0000575828" "00000592" "10" "1905" "152" "1905" "152" "c.1905+152T>A" "r.(=)" "p.(=)" "" "0000575829" "00023832" "10" "2057" "0" "2057" "0" "c.2057T>A" "r.(?)" "p.(Met686Lys)" "" "0000575829" "00000592" "10" "1905" "152" "1905" "152" "c.1905+152T>A" "r.(=)" "p.(=)" "" "0000575830" "00023832" "90" "1796" "0" "1796" "0" "c.1796dup" "r.(?)" "p.(Asn599LysfsTer12)" "" "0000575830" "00000592" "90" "1796" "0" "1796" "0" "c.1796dup" "r.(?)" "p.(Asn599LysfsTer12)" "" "0000575831" "00023832" "30" "1754" "-10" "1754" "-10" "c.1754-10C>G" "r.(=)" "p.(=)" "" "0000575831" "00000592" "30" "1754" "-10" "1754" "-10" "c.1754-10C>G" "r.(=)" "p.(=)" "" "0000575832" "00023832" "90" "1573" "-12" "1573" "-12" "c.1573-12A>G" "r.(=)" "p.(=)" "" "0000575832" "00000592" "90" "1573" "-12" "1573" "-12" "c.1573-12A>G" "r.(=)" "p.(=)" "" "0000575833" "00023832" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Gln521Ter)" "" "0000575833" "00000592" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Gln521Ter)" "" "0000575834" "00023832" "30" "1506" "6" "1506" "6" "c.1506+6G>C" "r.(=)" "p.(=)" "" "0000575834" "00000592" "30" "1506" "6" "1506" "6" "c.1506+6G>C" "r.(=)" "p.(=)" "" "0000575835" "00023832" "70" "1241" "0" "1245" "0" "c.1241_1245dup" "r.(?)" "p.(Glu416ArgfsTer11)" "" "0000575835" "00000592" "70" "1241" "0" "1245" "0" "c.1241_1245dup" "r.(?)" "p.(Glu416ArgfsTer11)" "" "0000575836" "00023832" "30" "1176" "0" "1176" "0" "c.1176G>C" "r.(?)" "p.(Pro392=)" "" "0000575836" "00000592" "30" "1176" "0" "1176" "0" "c.1176G>C" "r.(?)" "p.(Pro392=)" "" "0000575838" "00023832" "30" "1098" "0" "1098" "0" "c.1098T>C" "r.(?)" "p.(Ala366=)" "" "0000575838" "00000592" "30" "1098" "0" "1098" "0" "c.1098T>C" "r.(?)" "p.(Ala366=)" "" "0000575840" "00023832" "30" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Asp294Asn)" "" "0000575840" "00000592" "30" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Asp294Asn)" "" "0000575841" "00023832" "50" "768" "0" "770" "0" "c.768_770del" "r.(?)" "p.(Val257del)" "" "0000575841" "00000592" "50" "768" "0" "770" "0" "c.768_770del" "r.(?)" "p.(Val257del)" "" "0000575842" "00023832" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Pro191Ser)" "" "0000575842" "00000592" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Pro191Ser)" "" "0000575843" "00023832" "50" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Glu169Lys)" "" "0000575843" "00000592" "50" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Glu169Lys)" "" "0000575844" "00023832" "90" "485" "0" "486" "0" "c.485_486del" "r.(?)" "p.(Phe162TyrfsTer4)" "" "0000575844" "00000592" "90" "485" "0" "486" "0" "c.485_486del" "r.(?)" "p.(Phe162TyrfsTer4)" "" "0000575845" "00023832" "50" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Ala147Pro)" "" "0000575845" "00000592" "50" "439" "0" "439" "0" "c.439G>C" "r.(?)" "p.(Ala147Pro)" "" "0000575846" "00023832" "70" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Phe130Cys)" "" "0000575846" "00000592" "70" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Phe130Cys)" "" "0000575847" "00023832" "90" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Phe130Cys)" "" "0000575847" "00000592" "90" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Phe130Cys)" "" "0000575848" "00023832" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Glu125Lys)" "" "0000575848" "00000592" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Glu125Lys)" "" "0000575850" "00023832" "10" "141" "0" "141" "0" "c.141T>G" "r.(?)" "p.(Ser47=)" "" "0000575850" "00000592" "10" "141" "0" "141" "0" "c.141T>G" "r.(?)" "p.(Ser47=)" "" "0000575851" "00023832" "70" "29" "-2" "30" "0" "c.29-2_30del" "r.spl?" "p.?" "" "0000575851" "00000592" "70" "29" "-2" "30" "0" "c.29-2_30del" "r.spl?" "p.?" "" "0000619517" "00023832" "70" "3212" "0" "3218" "0" "c.3212_3218del" "r.(?)" "p.(Glu1071AlafsTer16)" "" "0000619517" "00000592" "70" "1905" "1307" "1905" "1313" "c.1905+1307_1905+1313del" "r.(=)" "p.(=)" "" "0000619518" "00023832" "30" "3093" "0" "3093" "0" "c.3093G>A" "r.(?)" "p.(Glu1031=)" "" "0000619518" "00000592" "30" "1905" "1188" "1905" "1188" "c.1905+1188G>A" "r.(=)" "p.(=)" "" "0000619519" "00023832" "90" "2346" "0" "2346" "0" "c.2346del" "r.(?)" "p.(Lys783ArgfsTer32)" "" "0000619519" "00000592" "90" "1905" "441" "1905" "441" "c.1905+441del" "r.(=)" "p.(=)" "" "0000619520" "00023832" "30" "2054" "0" "2054" "0" "c.2054A>G" "r.(?)" "p.(Glu685Gly)" "" "0000619520" "00000592" "30" "1905" "149" "1905" "149" "c.1905+149A>G" "r.(=)" "p.(=)" "" "0000619521" "00023832" "30" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "" "0000619521" "00000592" "30" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "" "0000619522" "00023832" "90" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449Ter)" "" "0000619522" "00000592" "90" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449Ter)" "" "0000619523" "00023832" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Phe377=)" "" "0000619523" "00000592" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Phe377=)" "" "0000619524" "00023832" "10" "905" "0" "905" "0" "c.905G>C" "r.(?)" "p.(Cys302Ser)" "" "0000619524" "00000592" "10" "905" "0" "905" "0" "c.905G>C" "r.(?)" "p.(Cys302Ser)" "" "0000619525" "00023832" "30" "417" "0" "417" "0" "c.417G>A" "r.(?)" "p.(Glu139=)" "" "0000619525" "00000592" "30" "417" "0" "417" "0" "c.417G>A" "r.(?)" "p.(Glu139=)" "" "0000619526" "00023832" "50" "154" "5" "154" "5" "c.154+5G>A" "r.spl?" "p.?" "" "0000619526" "00000592" "50" "154" "5" "154" "5" "c.154+5G>A" "r.spl?" "p.?" "" "0000619527" "00023832" "10" "29" "-15" "29" "-15" "c.29-15G>A" "r.(=)" "p.(=)" "" "0000619527" "00000592" "10" "29" "-15" "29" "-15" "c.29-15G>A" "r.(=)" "p.(=)" "" "0000624601" "00023832" "90" "3011" "0" "3012" "0" "c.3011_3012del" "r.(?)" "p.(Glu1004GlyfsTer74)" "" "0000624601" "00000592" "90" "1905" "1106" "1905" "1107" "c.1905+1106_1905+1107del" "r.(=)" "p.(=)" "" "0000624602" "00023832" "30" "1098" "0" "1098" "0" "c.1098T>C" "r.(?)" "p.(Ala366=)" "" "0000624602" "00000592" "30" "1098" "0" "1098" "0" "c.1098T>C" "r.(?)" "p.(Ala366=)" "" "0000632001" "00023832" "90" "1662" "0" "1665" "0" "c.1662_1665del" "r.(?)" "p.(Glu555Glyfs*14)" "" "0000632001" "00000592" "90" "1662" "0" "1665" "0" "c.1662_1665del" "r.(?)" "p.(Glu555Glyfs*14)" "" "0000653422" "00000592" "70" "1905" "268" "1905" "268" "c.1905+268C>T" "r.(?)" "p.(?)" "" "0000653484" "00023832" "90" "1281" "0" "1282" "0" "c.1281_1282del" "r.(?)" "p.(Leu428ThrfsTer24)" "" "0000659279" "00023832" "10" "16405" "0" "16406" "0" "c.*12946_*12947dup" "r.(=)" "p.(=)" "" "0000659279" "00000592" "10" "2241" "792" "2241" "793" "c.2241+792_2241+793dup" "r.(=)" "p.(=)" "" "0000659280" "00023832" "90" "1796" "0" "1796" "0" "c.1796dup" "r.(?)" "p.(Asn599LysfsTer12)" "" "0000659280" "00000592" "90" "1796" "0" "1796" "0" "c.1796dup" "r.(?)" "p.(Asn599LysfsTer12)" "" "0000659281" "00023832" "30" "1599" "0" "1599" "0" "c.1599G>A" "r.(?)" "p.(Thr533=)" "" "0000659281" "00000592" "30" "1599" "0" "1599" "0" "c.1599G>A" "r.(?)" "p.(Thr533=)" "" "0000659282" "00023832" "50" "778" "3" "778" "3" "c.778+3A>G" "r.spl?" "p.?" "" "0000659282" "00000592" "50" "778" "3" "778" "3" "c.778+3A>G" "r.spl?" "p.?" "" "0000660675" "00000592" "70" "1905" "268" "1905" "268" "c.1905+268C>T" "r.(?)" "p.(?)" "" "0000664345" "00023832" "70" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(Ser47Leufs*21)" "" "0000664345" "00000592" "70" "139" "0" "139" "0" "c.139del" "r.()" "p.(Ser47Leufs*21)" "" "0000664346" "00023832" "70" "1106" "0" "1115" "0" "c.1106_1115del" "r.(?)" "p.(Arg369Glnfs*9)" "" "0000664346" "00000592" "70" "1106" "0" "1115" "0" "c.1106_1115del" "r.()" "p.(Arg369Glnfs*9)" "" "0000664347" "00023832" "70" "1283" "0" "1283" "0" "c.1283dup" "r.(?)" "p.(Pro429Thrfs*24)" "" "0000664347" "00000592" "70" "1283" "0" "1283" "0" "c.1283dup" "r.()" "p.(Pro429Thrfs*24)" "" "0000664348" "00023832" "70" "19236" "0" "19236" "0" "c.*15777delG" "r.(=)" "p.(=)" "" "0000664348" "00000592" "70" "2311" "0" "2311" "0" "c.2311del" "r.()" "p.(Glu771Argfs*2)" "" "0000664349" "00023832" "70" "247" "1" "247" "1" "c.247+1G>A" "r.spl?" "p.?" "" "0000664349" "00000592" "70" "247" "1" "247" "1" "c.247+1G>A" "r.spl" "p.?" "" "0000664350" "00000592" "70" "2234" "0" "2237" "0" "c.2234_2237del" "r.()" "p.(Thr745Argfs*12)" "" "0000664351" "00023832" "70" "1059" "1" "1059" "1" "c.1059+1G>A" "r.spl?" "p.?" "" "0000664351" "00000592" "70" "1059" "1" "1059" "1" "c.1059+1G>A" "r.spl" "p.?" "" "0000664352" "00023832" "70" "1246" "-3" "1246" "-3" "c.1246-3A>G" "r.spl?" "p.?" "" "0000664352" "00000592" "70" "1246" "-3" "1246" "-3" "c.1246-3A>G" "r.spl?" "p.?" "" "0000664353" "00023832" "70" "237" "0" "238" "0" "c.237_238del" "r.(?)" "p.(Val81Glnfs*6)" "" "0000664353" "00000592" "70" "237" "0" "238" "0" "c.237_238del" "r.()" "p.(Val81Glnfs*6)" "" "0000682409" "00023832" "70" "3389" "0" "3389" "0" "c.3389T>G" "r.(?)" "p.(Leu1130Ter)" "" "0000682409" "00000592" "70" "1905" "1484" "1905" "1484" "c.1905+1484T>G" "r.(=)" "p.(=)" "" "0000682410" "00023832" "90" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Ser1107ValfsTer4)" "" "0000682410" "00000592" "90" "1905" "1412" "1905" "1412" "c.1905+1412dup" "r.(=)" "p.(=)" "" "0000682411" "00023832" "30" "3189" "0" "3191" "0" "c.3189_3191del" "r.(?)" "p.(Glu1066del)" "" "0000682411" "00000592" "30" "1905" "1284" "1905" "1286" "c.1905+1284_1905+1286del" "r.(=)" "p.(=)" "" "0000682412" "00023832" "30" "1608" "0" "1608" "0" "c.1608A>T" "r.(?)" "p.(Thr536=)" "" "0000682412" "00000592" "30" "1608" "0" "1608" "0" "c.1608A>T" "r.(?)" "p.(Thr536=)" "" "0000682413" "00023832" "90" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Ser284Ter)" "" "0000682413" "00000592" "90" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Ser284Ter)" "" "0000682414" "00023832" "70" "752" "0" "752" "0" "c.752G>T" "r.(?)" "p.(Gly251Val)" "" "0000682414" "00000592" "70" "752" "0" "752" "0" "c.752G>T" "r.(?)" "p.(Gly251Val)" "" "0000682415" "00023832" "90" "155" "-1" "155" "-1" "c.155-1G>T" "r.spl?" "p.?" "" "0000682415" "00000592" "90" "155" "-1" "155" "-1" "c.155-1G>T" "r.spl?" "p.?" "" "0000682416" "00023832" "30" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Glu3=)" "" "0000682416" "00000592" "30" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Glu3=)" "" "0000684575" "00023832" "70" "341" "0" "348" "0" "c.341_348del" "r.(?)" "p.(Asn114Argfs*7)" "" "0000684576" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000684577" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "" "0000685440" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.(Ala83_Pro471del)" "" "0000685441" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.(Asp10_Thr103del)" "" "0000685442" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.(Glu260_Pro471del)" "" "0000685443" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000685444" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000685445" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000685446" "00023832" "90" "2964" "0" "2965" "0" "c.2964_2965del" "r.(?)" "p.(Glu989Glyfs*89)" "" "0000685447" "00023832" "90" "2797" "0" "2797" "0" "c.2797del" "r.(?)" "p.(Glu933Lysfs*156)" "" "0000685448" "00023832" "90" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931Glyfs*147)" "" "0000685448" "00000592" "90" "1905" "885" "1905" "886" "c.1905+885_1905+886del" "" "" "" "0000685449" "00023832" "90" "2772" "0" "2773" "0" "c.2772_2773dup" "r.(?)" "p.(Gly925Glufs*165)" "" "0000685450" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000685451" "00023832" "90" "2272" "0" "2272" "0" "c.2272G>T" "r.(?)" "p.(Glu758*)" "" "0000685452" "00023832" "90" "2221" "0" "2224" "0" "c.2221_2224del" "r.(?)" "p.(Glu741Argfs*73)" "" "0000685453" "00023832" "90" "2173" "0" "2173" "0" "c.2173C>T" "r.(?)" "p.(Gln725*)" "" "0000685454" "00023832" "90" "2023" "0" "2023" "0" "c.2023G>T" "r.(?)" "p.(Glu675*)" "" "0000685455" "00023832" "90" "1572" "1" "1572" "1" "c.1572+1G>A" "r.spl" "p.?" "" "0000685456" "00023832" "90" "1334" "0" "1334" "0" "c.1334C>G" "r.(?)" "p.(Ser445*)" "" "0000685457" "00023832" "90" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "" "0000685458" "00023832" "90" "897" "0" "897" "0" "c.897dup" "r.(?)" "p.(Ile300Tyrfs*46)" "" "0000685459" "00023832" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "" "0000685460" "00023832" "90" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Arg)" "" "0000685461" "00023832" "70" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Gly165Asp)" "" "0000685462" "00023832" "90" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Glu87*)" "" "0000685463" "00023832" "70" "202" "0" "202" "0" "c.202G>C" "r.(?)" "p.(Gly68Arg)" "" "0000686017" "00023832" "90" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931Glyfs*147)" "" "0000686017" "00000592" "90" "1905" "885" "1905" "886" "c.1905+885_1905+886del" "r.(?)" "p.(=)" "" "0000693575" "00023832" "50" "19203" "0" "19203" "0" "c.*15744A>T" "r.(=)" "p.(=)" "" "0000693575" "00000592" "50" "2278" "0" "2278" "0" "c.2278A>T" "r.(?)" "p.(Lys760Ter)" "" "0000693576" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031GlyfsTer58)" "" "0000693576" "00000592" "90" "1905" "1187" "1905" "1187" "c.1905+1187del" "r.(=)" "p.(=)" "" "0000693577" "00023832" "30" "3074" "0" "3085" "0" "c.3074_3085dup" "r.(?)" "p.(Val1025_Glu1028dup)" "" "0000693577" "00000592" "30" "1905" "1169" "1905" "1180" "c.1905+1169_1905+1180dup" "r.(=)" "p.(=)" "" "0000710265" "00023832" "90" "1859" "0" "1860" "0" "c.1859_1860del" "r.(?)" "p.(Lys620Argfs*9)" "" "0000712305" "00023832" "90" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Phe130Cys)" "5" "0000712305" "00000592" "90" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Phe130Cys)" "5" "0000712306" "00023832" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Pro235Ser)" "7" "0000712306" "00000592" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Pro235Ser)" "7" "0000712307" "00023832" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "8" "0000712307" "00000592" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "8" "0000712308" "00023832" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "8" "0000712308" "00000592" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "8" "0000712309" "00023832" "90" "1402" "0" "1405" "0" "c.1402_1405del" "r.(?)" "p.(Pro468Argfs*7)" "11" "0000712309" "00000592" "90" "1402" "0" "1405" "0" "c.1402_1405del" "r.(?)" "p.(Pro468Argfs*7)" "11" "0000712310" "00023832" "90" "1245" "3" "1245" "3" "c.1245+3A>G" "r.[=,1226_1336del]" "p.?" "10i" "0000712310" "00000592" "90" "1245" "3" "1245" "3" "c.1245+3A>G" "r.[=,1226_1336del]" "p.?" "10i" "0000712311" "00023832" "90" "1573" "-8" "1573" "-8" "c.1573-8A>G" "r.1572_1573ins1573-7_1573-1" "p.?" "13i" "0000712311" "00000592" "90" "1573" "-8" "1573" "-8" "c.1573-8A>G" "r.1572_1573ins1573-7_1573-1" "p.?" "13i" "0000712312" "00023832" "90" "1573" "-1" "1905" "1" "c.(1572+1_1573-1)_(1905+1_1906-1)del" "r.1573_1905del" "p.?" "13i_15i" "0000712312" "00000592" "90" "1573" "-1" "1905" "1" "c.(1572+1_1573-1)_(1905+1_1906-1)del" "r.1573_1905del" "p.?" "13i_15i" "0000712313" "00023832" "90" "154" "0" "154" "0" "c.154G>T" "r.spl" "p.(Gly52*)" "2" "0000712313" "00000592" "90" "154" "0" "154" "0" "c.154G>T" "r.spl" "p.(Gly52*)" "2" "0000712314" "00023832" "90" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(His98Gln)" "4" "0000712314" "00000592" "90" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(His98Gln)" "4" "0000712315" "00023832" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "6" "0000712315" "00000592" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "6" "0000712316" "00023832" "90" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Gly215Val)" "7" "0000712316" "00000592" "90" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Gly215Val)" "7" "0000712317" "00023832" "90" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Cys250Arg)" "7" "0000712317" "00000592" "90" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Cys250Arg)" "7" "0000712318" "00023832" "90" "886" "0" "900" "0" "c.886_900del" "r.(?)" "p.(Thr296_Ile300del)" "8" "0000712318" "00000592" "90" "886" "0" "900" "0" "c.886_900del" "r.(?)" "p.(Thr296_Ile300del)" "8" "0000712319" "00023832" "90" "154" "0" "154" "0" "c.154G>T" "r.spl" "p.(Gly52*)" "2" "0000712319" "00000592" "90" "154" "0" "154" "0" "c.154G>T" "r.spl" "p.(Gly52*)" "2" "0000712320" "00023832" "90" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Trp164*)" "6" "0000712320" "00000592" "90" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Trp164*)" "6" "0000712321" "00023832" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "7" "0000712321" "00000592" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "7" "0000712322" "00023832" "90" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Glu374*)" "10" "0000712322" "00000592" "90" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Glu374*)" "10" "0000712323" "00023832" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "0000712323" "00000592" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "0000712324" "00023832" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "0000712324" "00000592" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "3" "0000712325" "00023832" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Glu125Lysfs*8)" "5" "0000712325" "00000592" "90" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Glu125Lysfs*8)" "5" "0000712326" "00023832" "90" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Glu290Glyfs*8)" "8" "0000712326" "00000592" "90" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Glu290Glyfs*8)" "8" "0000712327" "00023832" "90" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Glu290Glyfs*8)" "8" "0000712327" "00000592" "90" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Glu290Glyfs*8)" "8" "0000712329" "00023832" "90" "779" "-1" "1245" "1" "c.(778+1_779-1)_(1245+1_1246-1)del" "r.779_1245del" "p.?" "7i_10i" "0000712329" "00000592" "90" "779" "-1" "1245" "1" "c.(778+1_779-1)_(1245+1_1246-1)del" "r.779_1245del" "p.?" "7i_10i" "0000712330" "00023832" "90" "1261" "0" "1279" "0" "c.1261_1279del" "r.(?)" "p.(Ser421Hisfs*5)" "11" "0000712330" "00000592" "90" "1261" "0" "1279" "0" "c.1261_1279del" "r.(?)" "p.(Ser421Hisfs*5)" "11" "0000712331" "00023832" "90" "1512" "0" "1513" "0" "c.1512_1513del" "r.(?)" "p.(Ile505Hisfs*7)" "13" "0000712331" "00000592" "90" "1512" "0" "1513" "0" "c.1512_1513del" "r.(?)" "p.(Ile505Hisfs*7)" "13" "0000712332" "00023832" "90" "1582" "0" "1585" "0" "c.1582_1585del" "r.(?)" "p.(Thr528Leufs*4)" "14" "0000712332" "00000592" "90" "1582" "0" "1585" "0" "c.1582_1585del" "r.(?)" "p.(Thr528Leufs*4)" "14" "0000712333" "00023832" "90" "310" "3" "310" "3" "c.310+3A>G" "r.248_310del" "p.?" "4i" "0000712333" "00000592" "90" "310" "3" "310" "3" "c.310+3A>G" "r.248_310del" "p.?" "4i" "0000712334" "00023832" "90" "778" "5" "778" "5" "c.778+5G>A" "r.620_778del" "p.?" "7i" "0000712334" "00000592" "90" "778" "5" "778" "5" "c.778+5G>A" "r.620_778del" "p.?" "7i" "0000712335" "00023832" "30" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ile75Val)" "" "0000712335" "00000592" "30" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ile75Val)" "" "0000712336" "00023832" "30" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Ala388=)" "10" "0000712336" "00000592" "30" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Ala388=)" "10" "0000712337" "00023832" "30" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712337" "00000592" "30" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712338" "00023832" "30" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "11" "0000712338" "00000592" "30" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "11" "0000712339" "00023832" "30" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712339" "00000592" "30" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712340" "00023832" "30" "29" "-15" "29" "-15" "c.29-15G>A" "r.(?)" "p.?" "1i" "0000712340" "00000592" "30" "29" "-15" "29" "-15" "c.29-15G>A" "r.(?)" "p.?" "1i" "0000712341" "00023832" "30" "1507" "-68" "1507" "-68" "c.1507-68T>C" "r.(?)" "p.?" "12i" "0000712341" "00000592" "30" "1507" "-68" "1507" "-68" "c.1507-68T>C" "r.(?)" "p.?" "12i" "0000712342" "00023832" "30" "1507" "-97" "1507" "-97" "c.1507-97T>C" "r.(?)" "p.?" "12i" "0000712342" "00000592" "30" "1507" "-97" "1507" "-97" "c.1507-97T>C" "r.(?)" "p.?" "12i" "0000712343" "00023832" "30" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.?" "13i" "0000712343" "00000592" "30" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.?" 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"p.(Ile289Val)" "8" "0000712350" "00000592" "90" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Ile289Val)" "8" "0000712351" "00023832" "90" "237" "0" "238" "0" "c.237_238del" "r.(?)" "p.(Val81Glnfs*6)" "3" "0000712351" "00000592" "90" "237" "0" "238" "0" "c.237_238del" "r.(?)" "p.(Val81Glnfs*6)" "3" "0000712352" "00023832" "90" "486" "0" "486" "0" "c.486del" "r.(?)" "p.(Phe162Leufs*13)" "6" "0000712352" "00000592" "90" "486" "0" "486" "0" "c.486del" "r.(?)" "p.(Phe162Leufs*13)" "6" "0000712353" "00023832" "90" "486" "0" "486" "0" "c.486del" "r.(?)" "p.(Phe162Leufs*13)" "6" "0000712353" "00000592" "90" "486" "0" "486" "0" "c.486del" "r.(?)" "p.(Phe162Leufs*13)" "6" "0000712354" "00023832" "90" "155" "-2" "155" "-2" "c.155-2A>G" "r.154_155ins[154+1_155-3;gg]" "p.?" "2i" "0000712354" "00000592" "90" "155" "-2" "155" "-2" "c.155-2A>G" "r.154_155ins[154+1_155-3;gg]" "p.?" "2i" "0000712355" "00023832" "90" "934" "1" "934" "1" "c.934+1G>A" "r.779_934del" "p.?" 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"p.(Arg425Lys)" "11" "0000712361" "00023832" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "11" "0000712361" "00000592" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "11" "0000712362" "00023832" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712362" "00000592" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712363" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712363" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712364" "00023832" "10" "29" "-15" "29" "-15" "c.29-15G>A" "r.(?)" "p.?" "1i" "0000712364" "00000592" "10" "29" "-15" "29" "-15" "c.29-15G>A" "r.(?)" "p.?" "1i" "0000712365" "00023832" "10" "1245" "16" "1245" "16" "c.1245+16A>G" "r.(?)" "p.?" "10i" "0000712365" "00000592" "10" "1245" "16" "1245" "16" "c.1245+16A>G" "r.(?)" "p.?" "10i" "0000712366" "00023832" "10" "1507" "-101" "1507" "-101" "c.1507-101T>A" "r.(?)" 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"p.(Glu802Glyfs*32)" "15b" "0000712383" "00023832" "90" "2993" "0" "2997" "0" "c.2993_2997del" "r.(?)" "p.(Glu998Glyfs*79)" "15b" "0000712384" "00023832" "90" "2522" "0" "2522" "0" "c.2522del" "r.(?)" "p.(Glu841Glyfs*248)" "15b" "0000712385" "00023832" "90" "2144" "0" "2216" "0" "c.2144_2216dup" "r.(?)" "p.(Glu740Glyfs*54)" "15b" "0000712386" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15b" "0000712387" "00023832" "90" "2245" "0" "2245" "0" "c.2245G>T" "r.(?)" "p.(Glu749*)" "15b" "0000712388" "00023832" "90" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(His98Gln)" "4" "0000712388" "00000592" "90" "294" "0" "294" "0" "c.294C>A" "r.(?)" "p.(His98Gln)" "4" "0000712389" "00023832" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "6" "0000712389" "00000592" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "6" "0000712390" "00023832" "90" "2557" "0" "2557" "0" "c.2557G>T" "r.(?)" 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"" "0000712399" "00000592" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000712400" "00023832" "90" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Cys250Arg)" "7" "0000712400" "00000592" "90" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Cys250Arg)" "7" "0000712401" "00023832" "90" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "15b" "0000712402" "00023832" "90" "2625" "0" "2625" "0" "c.2625dup" "r.(?)" "p.(Gly876Argfs*203)" "15b" "0000712403" "00023832" "90" "2730" "0" "2731" "0" "c.2730_2731del" "r.(?)" "p.(Glu911Glyfs*167)" "15b" "0000712405" "00023832" "90" "835" "0" "934" "1317" "c.835_934+1317del" "r.?" "p.?" "8_8i" "0000712405" "00000592" "90" "835" "0" "934" "1317" "c.835_934+1317del" "r.?" "p.?" "8_8i" "0000712406" "00023832" "10" "2401" "0" "2401" "0" "c.2401A>G" "r.(?)" "p.(Thr801Ala)" "15b" "0000712407" "00023832" "10" "2667" "0" "2669" "0" "c.2667_2669del" "r.(?)" "p.(Glu890del)" "15b" "0000712408" "00023832" "10" "3060" "0" "3071" "0" "c.3060_3071del" "r.(?)" "p.(Val1025_Glu1028del)" "15b" "0000712409" "00023832" "10" "3074" "0" "3085" "0" "c.3074_3085del" "r.(?)" "p.(Val1025_Glu1028del)" "15b" "0000712410" "00023832" "10" "2606" "0" "2620" "0" "c.2606_2620del" "r.(?)" "p.(Glu869_Glu873del)" "15b" "0000712411" "00023832" "10" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "15b" "0000712412" "00023832" "10" "2820" "0" "2840" "0" "c.2820_2840dup" "r.(?)" "p.(Asp943_Glu949dup)" "15b" "0000712413" "00023832" "10" "2919" "0" "2939" "0" "c.2919_2939dup" "r.(?)" "p.(Gly977_Glu983dup)" "15b" "0000712414" "00023832" "10" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "15b" "0000712415" "00023832" "10" "3219" "0" "3219" "0" "c.3219C>T" "r.(?)" "p.(Gly1073=)" "15b" "0000712416" "00023832" "90" "469" "1" "469" "1" "c.469+1G>T" "r.394_469del" "p.?" "5i" "0000712416" "00000592" "90" "469" "1" "469" "1" "c.469+1G>T" "r.394_469del" "p.?" "5i" "0000712417" "00023832" "90" "789" "0" "790" "0" "c.789_790del" "r.(?)" "p.(Thr265Leufs*17)" "8" "0000712417" "00000592" "90" "789" "0" "790" "0" "c.789_790del" "r.(?)" "p.(Thr265Leufs*17)" "8" "0000712418" "00023832" "90" "572" "0" "619" "9" "c.572_619+9del" "r.529_619del" "p.?" "6_6i" "0000712418" "00000592" "90" "572" "0" "619" "9" "c.572_619+9del" "r.529_619del" "p.?" "6_6i" "0000712419" "00023832" "90" "1059" "363" "1059" "363" "c.1059+363G>A" "r.1059_1060ins1059+418_1059+553" "p.?" "9i" "0000712419" "00000592" "90" "1059" "363" "1059" "363" "c.1059+363G>A" "r.1059_1060ins1059+418_1059+553" "p.?" "9i" "0000712420" "00023832" "90" "28" "1" "28" "1" "c.28+1G>A" "r.(?)" "p.?" "1i" "0000712420" "00000592" "90" "28" "1" "28" "1" "c.28+1G>A" "r.(?)" "p.?" "1i" "0000712421" "00023832" "90" "28" "5" "28" "5" "c.28+5G>A" "r.(?)" "p.?" "1i" "0000712421" "00000592" "90" "28" "5" "28" "5" "c.28+5G>A" "r.(?)" "p.?" "1i" "0000712422" "00023832" "90" "750" "0" "751" "0" "c.750_751del" "r.(?)" "p.(Cys250Trpfs*32)" "7" "0000712422" "00000592" "90" "750" "0" "751" "0" "c.750_751del" "r.(?)" "p.(Cys250Trpfs*32)" "7" "0000712423" "00023832" "90" "1243" "0" "1244" "0" "c.1243_1244dup" "r.(?)" "p.(Glu416Glyfs*10)" "10" "0000712423" "00000592" "90" "1243" "0" "1244" "0" "c.1243_1244dup" "r.(?)" "p.(Glu416Glyfs*10)" "10" "0000712424" "00023832" "90" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000712424" "00000592" "90" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000712425" "00023832" "10" "227" "0" "227" "0" "c.227G>T" "r.(?)" "p.(Ser76Ile)" "3" "0000712425" "00000592" "10" "227" "0" "227" "0" "c.227G>T" "r.(?)" "p.(Ser76Ile)" "3" "0000712426" "00023832" "10" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Ala388=)" "10" "0000712426" "00000592" "10" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Ala388=)" "10" "0000712427" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712427" "00000592" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712428" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712428" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712429" "00000592" "10" "2241" "11" "2241" "11" "c.2241+11T>C" "r.(?)" "p.?" "20i" "0000712430" "00023832" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Gln467*)" "11" "0000712430" "00000592" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Gln467*)" "11" "0000712431" "00023832" "90" "28" "1" "28" "1" "c.28+1G>A" "r.(?)" "p.?" "1i" "0000712431" "00000592" "90" "28" "1" "28" "1" "c.28+1G>A" "r.(?)" "p.?" "1i" "0000712432" "00023832" "90" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "6i" "0000712432" "00000592" "90" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "6i" "0000712433" "00023832" "90" "891" "0" "892" "0" "c.891_892del" "r.(?)" "p.(Ile297Metfs*48)" "8" "0000712433" "00000592" "90" "891" "0" "892" "0" "c.891_892del" "r.(?)" "p.(Ile297Metfs*48)" "8" "0000712434" "00023832" "90" "904" "0" "904" "0" "c.904T>C" "r.(?)" "p.(Cys302Arg)" "8" "0000712434" "00000592" "90" "904" "0" "904" "0" "c.904T>C" "r.(?)" "p.(Cys302Arg)" "8" "0000712435" "00023832" "90" "778" "1" "935" "-1" "c.(778+1_935-1)del(?)" "r.?" "p.?" "7i_8i" "0000712435" "00000592" "90" "778" "1" "935" "-1" "c.(778+1_935-1)del(?)" "r.?" "p.?" "7i_8i" "0000712436" "00023832" "90" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000712436" "00000592" "90" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000712437" "00023832" "90" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Lys244*)" "7" "0000712437" "00000592" "90" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Lys244*)" "7" "0000712438" "00023832" "90" "934" "1" "934" "1" "c.934+1G>C" "r.799_934del" "p.?" "8i" "0000712438" "00000592" "90" "934" "1" "934" "1" "c.934+1G>C" "r.799_934del" "p.?" "8i" "0000712439" "00023832" "90" "1092" "0" "1092" "0" "c.1092dup" "r.(?)" "p.(Ala365Cysfs*12)" "10" "0000712439" "00000592" "90" "1092" "0" "1092" "0" "c.1092dup" "r.(?)" "p.(Ala365Cysfs*12)" "10" "0000712440" "00023832" "90" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Gly436Asp)" "11" "0000712440" "00000592" "90" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Gly436Asp)" "11" "0000712441" "00023832" "90" "697" "0" "724" "0" "c.697_724del" "r.(?)" "p.(Thr234Argfs*3)" "7" "0000712441" "00000592" "90" "697" "0" "724" "0" "c.697_724del" "r.(?)" "p.(Thr234Argfs*3)" "7" "0000712442" "00023832" "90" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "10" "0000712442" "00000592" "90" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "10" "0000712443" "00023832" "90" "154" "1" "154" "1" "c.154+1G>A" "r.(?)" "p.?" "2i" "0000712443" "00000592" "90" "154" "1" "154" "1" "c.154+1G>A" "r.(?)" "p.?" "2i" "0000712444" "00023832" "90" "154" "0" "154" "0" "c.154G>A" "r.29_154del" "p.?" "2" "0000712444" "00000592" "90" "154" "0" "154" "0" "c.154G>A" "r.29_154del" "p.?" "2" "0000712445" "00023832" "90" "-80" "0" "1414" "42" "c.-80_1414+42delinsC" "r.?" "p.?" "1_11i" "0000712445" "00000592" "90" "-80" "0" "1414" "42" "c.-80_1414+42delinsC" "r.?" "p.?" "1_11i" "0000712446" "00023832" "90" "194" "0" "194" "0" "c.194del" "r.(?)" "p.(Gly65Valfs*3)" "3" "0000712446" "00000592" "90" "194" "0" "194" "0" "c.194del" "r.(?)" "p.(Gly65Valfs*3)" "3" "0000712447" "00023832" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Glu)" "5" "0000712447" "00000592" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Glu)" "5" "0000712448" "00023832" "90" "408" "0" "408" "0" "c.408del" "r.(?)" "p.(Phe136Leufs*20)" "5" "0000712448" "00000592" "90" "408" "0" "408" "0" "c.408del" "r.(?)" "p.(Phe136Leufs*20)" "5" "0000712449" "00023832" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "6" "0000712449" "00000592" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "6" "0000712450" "00023832" "90" "778" "1" "778" "1" "c.778+1G>C" "r.(?)" "p.?" "7i" "0000712450" "00000592" "90" "778" "1" "778" "1" "c.778+1G>C" "r.(?)" "p.?" "7i" "0000712451" "00023832" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Gln273*)" "8" "0000712451" "00000592" "90" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Gln273*)" "8" "0000712452" "00023832" "90" "1135" "0" "1135" "0" "c.1135G>T" "r.(?)" "p.(Glu379*)" "10" "0000712452" "00000592" "90" "1135" "0" "1135" "0" "c.1135G>T" "r.(?)" "p.(Glu379*)" "10" "0000712453" "00023832" "90" "1414" "2" "1414" "2" "c.1414+2T>A" "r.(?)" "p.?" "11i" "0000712453" "00000592" "90" "1414" "2" "1414" "2" "c.1414+2T>A" "r.(?)" "p.?" "11i" "0000712454" "00023832" "90" "1572" "1" "1572" "1" "c.1572+1G>A" "r.(?)" "p.?" "13i" "0000712454" "00000592" "90" "1572" "1" "1572" "1" "c.1572+1G>A" "r.(?)" "p.?" "13i" "0000712455" "00023832" "90" "1765" "0" "1765" "0" "c.1765G>T" "r.(?)" "p.(Glu589*)" "15b" "0000712456" "00023832" "90" "1928" "0" "1928" "0" "c.1928C>G" "r.(?)" "p.(Ser643*)" "15b" "0000712457" "00023832" "90" "2049" "0" "2128" "0" "c.2049_2128dup" "r.(?)" "p.(Gln712Lysfs*12)" "15b" "0000712458" "00023832" "90" "2506" "0" "2506" "0" "c.2506del" "r.(?)" "p.(Glu836Lysfs*253)" "15b" "0000712459" "00023832" "90" "2529" "0" "2529" "0" "c.2529del" "r.(?)" "p.(Glu844Argfs*245)" "15b" "0000712460" "00023832" "90" "2536" "0" "2536" "0" "c.2536G>T" "r.(?)" "p.(Glu846*)" "15b" "0000712461" "00023832" "90" "2929" "0" "2929" "0" "c.2929G>T" "r.(?)" "p.(Gly977*)" "15b" "0000712462" "00023832" "90" "2760" "0" "2761" "0" "c.2760_2761del" "r.(?)" "p.(Glu922Glyfs*156)" "15b" "0000712463" "00023832" "90" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931Glyfs*147)" "15b" "0000712464" "00023832" "90" "2845" "0" "2845" "0" "c.2845del" "r.(?)" "p.(Glu949Lysfs*140)" "15b" "0000712465" "00023832" "90" "2862" "0" "2862" "0" "c.2862dup" "r.(?)" "p.(Trp955Metfs*124)" "15b" "0000712466" "00023832" "90" "2872" "0" "2872" "0" "c.2872G>T" "r.(?)" "p.(Glu958*)" "15b" "0000712467" "00023832" "90" "2892" "0" "2893" "0" "c.2892_2893del" "r.(?)" "p.(Glu965Glyfs*113)" "15b" "0000712468" "00023832" "90" "2916" "0" "2917" "0" "c.2916_2917del" "r.(?)" "p.(Glu973Argfs*105)" "15b" "0000712469" "00023832" "90" "3058" "0" "3058" "0" "c.3058del" "r.(?)" "p.(Glu1020Lysfs*69)" "15b" "0000712470" "00023832" "90" "1245" "3" "1245" "3" "c.1245+3A>T" "r.1060_1245del" "p.?" "10i" "0000712470" "00000592" "90" "1245" "3" "1245" "3" "c.1245+3A>T" "r.1060_1245del" "p.?" "10i" "0000712471" "00023832" "90" "154" "0" "154" "0" "c.154G>A" "r.spl" "p.(Gly52Arg)" "2" "0000712471" "00000592" "90" "154" "0" "154" "0" "c.154G>A" "r.spl" "p.(Gly52Arg)" "2" "0000712472" "00023832" "90" "824" "0" "824" "0" "c.824G>T" "r.(?)" "p.(Gly275Val)" "8" "0000712472" "00000592" "90" "824" "0" "824" "0" "c.824G>T" "r.(?)" "p.(Gly275Val)" "8" "0000712473" "00023832" "90" "2812" "0" "2812" "0" "c.2812G>T" "r.(?)" "p.(Glu938*)" "15b" "0000712474" "00023832" "90" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Arg)" "3" "0000712474" "00000592" "90" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Arg)" "3" "0000712475" "00023832" "90" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Gly436Asp)" "11" "0000712475" "00000592" "90" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Gly436Asp)" "11" "0000712476" "00023832" "90" "2812" "0" "2812" "0" "c.2812G>T" "r.(?)" "p.(Glu938*)" "15b" "0000712477" "00023832" "90" "28" "1" "28" "1" "c.28+1G>A" "r.(?)" "p.?" "1i" "0000712477" "00000592" "90" "28" "1" "28" "1" "c.28+1G>A" "r.(?)" "p.?" "1i" "0000712479" "00023832" "90" "29" "-1" "247" "1" "c.(28+1_29-1)_(247+1_248-1)del" "r.?" "p.?" "1i_3i" "0000712479" "00000592" "90" "29" "-1" "247" "1" "c.(28+1_29-1)_(247+1_248-1)del" "r.?" "p.?" "1i_3i" "0000712480" "00023832" "90" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Trp164*)" "6" "0000712480" "00000592" "90" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Trp164*)" "6" "0000712481" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15b" "0000712482" "00023832" "90" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753Lysfs*61)" "15b" "0000712483" "00023832" "90" "2260" "0" "2260" "0" "c.2260G>T" "r.(?)" "p.(Glu754*)" "15b" "0000712484" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15b" "0000712485" "00023832" "90" "2516" "0" "2520" "0" "c.2516_2520del" "r.(?)" "p.(Glu839Glyfs*238)" "15b" "0000712486" "00023832" "90" "2714" "0" "2715" "0" "c.2714_2715del" "r.(?)" "p.(Glu905Glyfs*173)" "15b" "0000712487" "00023832" "90" "2764" "0" "2764" "0" "c.2764del" "r.(?)" "p.(Glu922Argfs*167)" "15b" "0000712488" "00023832" "90" "2929" "0" "2929" "0" "c.2929G>T" "r.(?)" "p.(Gly977*)" "15b" "0000712489" "00023832" "90" "3039" "0" "3040" "0" "c.3039_3040del" "r.(?)" "p.(Glu1014Glyfs*64)" "15b" "0000712490" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "15b" "0000712491" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15b" "0000712492" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15b" "0000712493" "00023832" "90" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753Lysfs*61)" "15b" "0000712494" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15b" "0000712495" "00023832" "90" "2516" "0" "2520" "0" "c.2516_2520del" "r.(?)" "p.(Glu839Glyfs*238)" "15b" "0000712496" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15b" "0000712497" "00023832" "90" "2516" "0" "2520" "0" "c.2516_2520del" "r.(?)" "p.(Glu839Glyfs*238)" "15b" "0000712498" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15b" "0000712499" "00023832" "90" "2516" "0" "2520" "0" "c.2516_2520del" "r.(?)" "p.(Glu839Glyfs*238)" "15b" "0000712500" "00023832" "90" "2714" "0" "2715" "0" "c.2714_2715del" "r.(?)" "p.(Glu905Glyfs*173)" "15b" "0000712501" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "15b" "0000712502" "00023832" "90" "1059" "0" "1059" "2" "c.1059_1059+2del" "r.spl?" "p.?" "9_9i" "0000712502" "00000592" "90" "1059" "0" "1059" "2" "c.1059_1059+2del" "r.spl?" "p.?" "9_9i" "0000712503" "00023832" "90" "470" "-1" "470" "-1" "c.470-1G>A" "r.470_471del" "p.?" "5i" "0000712503" "00000592" "90" "470" "-1" "470" "-1" "c.470-1G>A" "r.470_471del" "p.?" "5i" "0000712504" "00023832" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "6" "0000712504" "00000592" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "6" "0000712505" "00023832" "90" "779" "-5" "779" "-5" "c.779-5T>G" "r.(?)" "p.?" "7i" "0000712505" "00000592" "90" "779" "-5" "779" "-5" "c.779-5T>G" "r.(?)" "p.?" "7i" "0000712506" "00023832" "90" "904" "0" "904" "0" "c.904T>G" "r.(?)" "p.(Cys302Gly)" "8" "0000712506" "00000592" "90" "904" "0" "904" "0" "c.904T>G" "r.(?)" "p.(Cys302Gly)" "8" "0000712507" "00023832" "90" "1047" "0" "1047" "0" "c.1047del" "r.(?)" "p.(Phe349Leufs*2)" "9" "0000712507" "00000592" "90" "1047" "0" "1047" "0" "c.1047del" "r.(?)" "p.(Phe349Leufs*2)" "9" "0000712508" "00023832" "90" "1047" "0" "1047" "0" "c.1047del" "r.(?)" "p.(Phe349Leufs*2)" "9" "0000712508" "00000592" "90" "1047" "0" "1047" "0" "c.1047del" "r.(?)" "p.(Phe349Leufs*2)" "9" "0000712509" "00023832" "90" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000712509" "00000592" "90" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000712510" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15b" "0000712511" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "15b" "0000712512" "00023832" "90" "2993" "0" "2997" "0" "c.2993_2997del" "r.(?)" "p.(Glu998Glyfs*79)" "15b" "0000712513" "00023832" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "15b" "0000712514" "00023832" "90" "2628" "0" "2629" "0" "c.2628_2629del" "r.(?)" "p.(Glu877Glyfs*201)" "15b" "0000712515" "00023832" "90" "3178" "0" "3179" "0" "c.3178_3179del" "r.(?)" "p.(Glu1060Argfs*18)" "15b" "0000712516" "00023832" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "15b" "0000712517" "00023832" "90" "2650" "0" "2650" "0" "c.2650G>T" "r.(?)" "p.(Glu884*)" "15b" "0000712518" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15b" "0000712519" "00023832" "90" "215" "0" "215" "0" "c.215del" "r.(?)" "p.(Lys72Serfs*13)" "3" "0000712519" "00000592" "90" "215" "0" "215" "0" "c.215del" "r.(?)" "p.(Lys72Serfs*13)" "3" "0000712520" "00023832" "90" "408" "0" "408" "0" "c.408del" "r.(?)" "p.(Phe136Leufs*20)" "5" "0000712520" "00000592" "90" "408" "0" "408" "0" "c.408del" "r.(?)" "p.(Phe136Leufs*20)" "5" "0000712521" "00023832" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "6" "0000712521" "00000592" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "6" "0000712522" "00023832" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "15b" "0000712523" "00023832" "90" "2993" "0" "2997" "0" "c.2993_2997del" "r.(?)" "p.(Glu998Glyfs*79)" "15b" "0000712524" "00023832" "90" "1379" "0" "1379" "0" "c.1379T>A" "r.(?)" "p.(Leu460*)" "11" "0000712524" "00000592" "90" "1379" "0" "1379" "0" "c.1379T>A" "r.(?)" "p.(Leu460*)" "11" "0000712525" "00023832" "90" "1571" "0" "1571" "0" "c.1571del" "r.(?)" "p.(Lys524Argfs*9)" "13" "0000712525" "00000592" "90" "1571" "0" "1571" "0" "c.1571del" "r.(?)" "p.(Lys524Argfs*9)" "13" "0000712526" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15b" "0000712527" "00023832" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Gly165Asp)" "6" "0000712527" "00000592" "90" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Gly165Asp)" "6" "0000712528" "00023832" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Glu)" "7" "0000712528" "00000592" "90" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Glu)" "7" "0000712529" "00023832" "90" "994" "0" "994" "0" "c.994G>T" "r.(?)" "p.(Glu332*)" "9" "0000712529" "00000592" "90" "994" "0" "994" "0" "c.994G>T" "r.(?)" "p.(Glu332*)" "9" "0000712530" "00023832" "90" "1477" "0" "1477" "0" "c.1477del" "r.(?)" "p.(Gly494Glufs*7)" "12" "0000712530" "00000592" "90" "1477" "0" "1477" "0" "c.1477del" "r.(?)" "p.(Gly494Glufs*7)" "12" "0000712531" "00023832" "90" "212" "0" "212" "0" "c.212C>G" "r.(?)" "p.(Ser71*)" "3" "0000712531" "00000592" "90" "212" "0" "212" "0" "c.212C>G" "r.(?)" "p.(Ser71*)" "3" "0000712532" "00023832" "90" "1591" "0" "1591" "0" "c.1591G>T" "r.(?)" "p.(Glu531*)" "14" "0000712532" "00000592" "90" "1591" "0" "1591" "0" "c.1591G>T" "r.(?)" "p.(Glu531*)" "14" "0000712533" "00023832" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Cys)" "10" "0000712533" "00000592" "90" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Cys)" "10" "0000712534" "00023832" "90" "274" "0" "277" "0" "c.274_277dup" "r.(?)" "p.(Ala93Glyfs*24)" "4" "0000712534" "00000592" "90" "274" "0" "277" "0" "c.274_277dup" "r.(?)" "p.(Ala93Glyfs*24)" "4" "0000712535" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15b" "0000712536" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15b" "0000712537" "00000592" "90" "778" "3" "778" "3" "c.778+3A>T" "r.spl?" "p.?" "7i" "0000712547" "00023832" "30" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000712547" "00000592" "30" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000712548" "00023832" "30" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "15b" "0000712548" "00000592" "30" "1905" "542" "1905" "556" "c.1905+542_1905+556del" "r.(?)" "p.(=)" "" "0000712549" "00023832" "10" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" "" "0000712549" "00000592" "10" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" "" "0000712550" "00023832" "30" "3248" "0" "3248" "0" "c.3248A>G" "r.(?)" "p.(Glu1083Gly)" "" "0000712550" "00000592" "30" "1905" "1343" "1905" "1343" "c.1905+1343A>G" "r.(=)" "p.(=)" "" "0000712676" "00023832" "90" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "" "0000712676" "00000592" "90" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "6i" "0000712678" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712678" "00000592" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712679" "00023832" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "13i" "0000712679" "00000592" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "13i" "0000712680" "00023832" "10" "1576" "0" "1578" "0" "c.1576_1578del" "r.(?)" "p.(Gln527del)" "14" "0000712680" "00000592" "10" "1576" "0" "1578" "0" "c.1576_1578del" "r.(?)" "p.(Gln527del)" "14" "0000712681" "00023832" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712681" "00000592" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712682" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712682" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712683" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712683" "00000592" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712684" "00023832" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "13i" "0000712684" "00000592" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "13i" "0000712685" "00023832" "10" "1576" "0" "1578" "0" "c.1576_1578del" "r.(?)" "p.(Gln527del)" "14" "0000712685" "00000592" "10" "1576" "0" "1578" "0" "c.1576_1578del" "r.(?)" "p.(Gln527del)" "14" "0000712686" "00023832" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712686" "00000592" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712687" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712687" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712688" "00023832" "90" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "6i" "0000712688" "00000592" "90" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "6i" "0000712689" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712689" "00000592" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712690" "00023832" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "13i" "0000712690" "00000592" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "13i" "0000712691" "00023832" "10" "1576" "0" "1578" "0" "c.1576_1578del" "r.(?)" "p.(Gln527del)" "14" "0000712691" "00000592" "10" "1576" "0" "1578" "0" "c.1576_1578del" "r.(?)" "p.(Gln527del)" "14" "0000712692" "00023832" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712692" "00000592" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712693" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712693" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712694" "00023832" "90" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "6i" "0000712694" "00000592" "90" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "6i" "0000712695" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712695" "00000592" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "11" "0000712696" "00023832" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "13i" "0000712696" "00000592" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "13i" "0000712697" "00023832" "10" "1576" "0" "1578" "0" "c.1576_1578del" "r.(?)" "p.(Gln527del)" "14" "0000712697" "00000592" "10" "1576" "0" "1578" "0" "c.1576_1578del" "r.(?)" "p.(Gln527del)" "14" "0000712698" "00023832" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712698" "00000592" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "14" "0000712699" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712699" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "14" "0000712700" "00000592" "10" "2241" "11" "2241" "11" "c.2241+11T>C" "r.(?)" "p.(=)" "18i" "0000713247" "00023832" "90" "126" "0" "126" "0" "c.126T>G" "r.(?)" "p.(Cys42Trp)" "" "0000713247" "00000592" "90" "126" "0" "126" "0" "c.126T>G" "r.(?)" "p.(Cys42Trp)" "" "0000713261" "00023832" "90" "2323" "0" "2324" "0" "c.2323_2324del" "r.(?)" "p.(Arg775Glufs*59)" "" "0000713261" "00000592" "90" "1905" "418" "1905" "419" "c.1905+418_1905+419del" "r.(=)" "p.(=)" "" "0000713265" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000713265" "00000592" "90" "1905" "331" "1905" "332" "c.1905+331_1905+332del" "r.(=)" "p.(=)" "" "0000713269" "00023832" "90" "913" "0" "914" "0" "c.913_914insA" "r.(?)" "p.(Asn305Lysfs*41)" "" "0000713269" "00000592" "90" "913" "0" "914" "0" "c.913_914insA" "r.(?)" "p.(Asn305Lysfs*41)" "" "0000713286" "00023832" "90" "2250" "0" "2251" "0" "c.2250_2251del" "r.(?)" "p.(Lys751Glyfs*18)" "" "0000713286" "00000592" "90" "1905" "345" "1905" "346" "c.1905+345_1905+346del" "r.(=)" "p.(=)" "" "0000713315" "00023832" "90" "633" "0" "633" "0" "c.633del" "r.(?)" "p.(Tyr212Metfs*11)" "" "0000713315" "00000592" "90" "633" "0" "633" "0" "c.633del" "r.(?)" "p.(Tyr212Metfs*11)" "" "0000713439" "00023832" "90" "3453" "0" "3453" "0" "c.3453G>T" "r.(?)" "p.(Leu1151Phe)" "" "0000713439" "00000592" "90" "1905" "1548" "1905" "1548" "c.1905+1548G>T" "r.(=)" "p.(=)" "" "0000713449" "00023832" "90" "779" "-3" "779" "-3" "c.779-3C>A" "r.spl?" "p.?" "" "0000713449" "00000592" "90" "779" "-3" "779" "-3" "c.779-3C>A" "r.spl?" "p.?" "" "0000713503" "00023832" "90" "1894" "0" "1897" "0" "c.1894_1897del" "r.(?)" "p.(Asp632Lysfs*4)" "" "0000713503" "00000592" "90" "1894" "0" "1897" "0" "c.1894_1897del" "r.(?)" "p.(Asp632Lysfs*13)" "" "0000713575" "00023832" "90" "1393" "0" "1393" "0" "c.1393del" "r.(?)" "p.(Leu465Serfs*11)" "" "0000713575" "00000592" "90" "1393" "0" "1393" "0" "c.1393del" "r.(?)" "p.(Leu465Serfs*11)" "" "0000713584" "00023832" "90" "1237" "0" "1237" "0" "c.1237A>T" "r.(?)" "p.(Arg413*)" "" "0000713584" "00000592" "90" "1237" "0" "1237" "0" "c.1237A>T" "r.(?)" "p.(Arg413*)" "" "0000713611" "00023832" "90" "1372" "0" "1373" "0" "c.1372_1373del" "r.(?)" "p.(Ser458Cysfs*4)" "" "0000713611" "00000592" "90" "1372" "0" "1373" "0" "c.1372_1373del" "r.(?)" "p.(Ser458Cysfs*4)" "" "0000713651" "00023832" "90" "1429" "0" "1429" "0" "c.1429G>T" "r.(?)" "p.(Glu477*)" "" "0000713651" "00000592" "90" "1429" "0" "1429" "0" "c.1429G>T" "r.(?)" "p.(Glu477*)" "" "0000713926" "00023832" "90" "3027" "0" "3028" "0" "c.3027_3028del" "r.(?)" "p.(Glu1010Glyfs*68)" "" "0000713927" "00023832" "90" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826Glyfs*8)" "" "0000713928" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000713929" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000713930" "00023832" "90" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Ser637Asn)" "" "0000713931" "00023832" "90" "1685" "0" "1686" "0" "c.1685_1686del" "r.(?)" "p.(His562Argfs*20)" "" "0000713932" "00023832" "90" "1630" "0" "1630" "0" "c.1630A>G" "r.(?)" "p.(Ser544Gly)" "" "0000713933" "00023832" "90" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Gln144Arg)" "" "0000713934" "00023832" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Gln118*)" "" "0000713935" "00023832" "90" "122" "0" "122" "0" "c.122C>G" "r.(?)" "p.(Ser41*)" "" "0000714056" "00023832" "70" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Gly60Ser)" "" "0000714057" "00023832" "70" "1170" "0" "1170" "0" "c.1170del" "r.(?)" "p.(Leu391Cysfs*6)" "" "0000714153" "00023832" "90" "2384" "0" "2384" "0" "c.2384del" "r.(?)" "p.(Glu795Glyfs*20)" "" "0000714154" "00023832" "90" "779" "-1" "1245" "1" "c.(778+1_779-1)_(1245+1_1246-1)del" "r.779_1245del" "p.?" "" "0000714155" "00023832" "90" "1245" "3" "1245" "3" "c.1245+3A>G" "r.spl" "p.?" "" "0000714156" "00023832" "90" "1573" "-8" "1573" "-8" "c.1573-8A>G" "r.spl" "p.?" "" "0000714157" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714158" "00023832" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "" "0000714159" "00023832" "90" "778" "5" "778" "5" "c.778+5G>A" "r.spl" "p.?" "" "0000714160" "00023832" "90" "2917" "0" "2917" "0" "c.2917G>T" "r.(?)" "p.(Glu973*)" "" "0000714161" "00023832" "90" "1216" "0" "1217" "0" "c.1216_1217del" "r.(?)" "p.(Leu406Ilefs*46)" "" "0000714162" "00023832" "90" "1872" "0" "1873" "0" "c.1872_1873del" "r.(?)" "p.(Glu624Aspfs*5)" "" "0000714163" "00023832" "90" "2007" "0" "2007" "0" "c.2007G>A" "r.(?)" "p.(Trp669*)" "" "0000714164" "00023832" "90" "2155" "0" "2155" "0" "c.2155dup" "r.(?)" "p.(His719Profs*51)" "" "0000714165" "00023832" "90" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000714166" "00023832" "10" "2223" "0" "2223" "0" "c.2223G>A" "r.(?)" "p.(Glu741=)" "" "0000714167" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714168" "00023832" "90" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753Lysfs*61)" "" "0000714169" "00023832" "90" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753Lysfs*61)" "" "0000714170" "00023832" "90" "2340" "0" "2341" "0" "c.2340_2341del" "r.(?)" "p.(Arg780Serfs*54)" "" "0000714171" "00023832" "10" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Ala781Thr)" "" "0000714172" "00023832" "90" "2398" "0" "2398" "0" "c.2398del" "r.(?)" "p.(Glu800Lysfs*15)" "" "0000714173" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714174" "00023832" "90" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "" "0000714175" "00023832" "90" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826Glyfs*8)" "" "0000714176" "00023832" "90" "2499" "0" "2520" "0" "c.2499_2520del" "r.(?)" "p.(Glu834Argfs*248)" "" "0000714177" "00023832" "90" "2501" "0" "2501" "0" "c.2501del" "r.(?)" "p.(Glu834Glyfs*255)" "" "0000714178" "00023832" "10" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "" "0000714179" "00023832" "10" "2606" "0" "2620" "0" "c.2606_2620del" "r.(?)" "p.(Glu869_Glu873del)" "" "0000714180" "00023832" "90" "2554" "0" "2555" "0" "c.2554_2555insC" "r.(?)" "p.(Glu852Alafs*227)" "" "0000714181" "00023832" "90" "2601" "0" "2602" "0" "c.2601_2602del" "r.(?)" "p.(Glu868Glyfs*210)" "" "0000714182" "00023832" "10" "2667" "0" "2669" "0" "c.2667_2669del" "r.(?)" "p.(Glu890del)" "" "0000714183" "00023832" "10" "2670" "0" "2744" "0" "c.2670_2744dup" "r.(?)" "p.(Gly891_Glu915dup)" "" "0000714184" "00023832" "90" "2782" "0" "2782" "0" "c.2782G>T" "r.(?)" "p.(Gly928*)" "" "0000714185" "00023832" "10" "2884" "0" "2884" "0" "c.2884G>A" "r.(?)" "p.(Gly962Arg)" "" "0000714186" "00023832" "90" "3007" "0" "3008" "0" "c.3007_3008del" "r.(?)" "p.(Gly1003Argfs*75)" "" "0000714187" "00023832" "10" "3060" "0" "3071" "0" "c.3060_3071del" "r.(?)" "p.(Val1025_Glu1028del)" "" "0000714188" "00023832" "10" "3074" "0" "3085" "0" "c.3074_3085del" "r.(?)" "p.(Val1025_Glu1028del)" "" "0000714189" "00023832" "10" "3074" "0" "3085" "0" "c.3074_3085del" "r.(?)" "p.(Val1025_Glu1028del)" "" "0000714190" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "" "0000714191" "00023832" "10" "3231" "0" "3231" "0" "c.3231T>A" "r.(?)" "p.(Asn1077Lys)" "" "0000714192" "00023832" "90" "35" "0" "35" "0" "c.35del" "r.(?)" "p.(Gly12Valfs*56)" "" "0000714193" "00023832" "10" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Val1144Ile)" "" "0000714194" "00023832" "90" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ser152Leu)" "" "0000714195" "00023832" "90" "618" "0" "621" "0" "c.618_621del" "r.spl" "p.?" "" "0000714196" "00023832" "90" "" "0" "" "0" "c.(1245+1_1246-1)_*456{0}" "r.?" "p.?" "" "0000714197" "00023832" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "" "0000714198" "00023832" "90" "778" "5" "778" "5" "c.778+5G>A" "r.620_778del" "p.Thr207_Glu260delinsLys" "" "0000714199" "00023832" "10" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Thr51=)" "" "0000714200" "00023832" "10" "1164" "0" "1164" "0" "c.1164G>T" "r.(?)" "p.(Ala388=)" "" "0000714201" "00023832" "10" "619" "16" "619" "16" "c.619+16A>G" "r.(?)" "p.(=)" "" "0000714202" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "" "0000714203" "00023832" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "" "0000714204" "00023832" "10" "1295" "0" "1295" "0" "c.1295A>G" "r.(?)" "p.(Glu432Gly)" "" "0000714205" "00023832" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000714206" "00023832" "10" "1507" "-97" "1507" "-97" "c.1507-97T>C" "r.(?)" "p.(=)" "" "0000714207" "00023832" "10" "1507" "-93" "1507" "-92" "c.1507-93_1507-92dup" "r.(?)" "p.(=)" "" "0000714208" "00023832" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "" "0000714209" "00023832" "10" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Gln527del)" "" "0000714210" "00023832" "10" "1598" "0" "1598" "0" "c.1598C>T" "r.(?)" "p.(Thr533Met)" "" "0000714211" "00023832" "10" "1687" "0" "1687" "0" "c.1687G>A" "r.(?)" "p.(Val563Met)" "" "0000714212" "00000592" "10" "2092" "-137" "2092" "-137" "c.2092-137T>A" "r.(?)" "p.(=)" "" "0000714213" "00000592" "10" "2149" "46" "2149" "46" "c.2149+46C>T" "r.(?)" "p.(=)" "" "0000714214" "00000592" "10" "2241" "11" "2241" "11" "c.2241+11T>C" "r.(?)" "p.(=)" "" "0000714215" "00023832" "10" "2615" "0" "2616" "0" "c.2615_2616insN[21]" "r.(?)" "p.(Glu872_Glu873ins7)" "" "0000714216" "00023832" "10" "2667" "0" "2669" "0" "c.2667_2669del" "r.(?)" "p.(Glu890del)" "" "0000714217" "00023832" "10" "2718" "0" "2720" "0" "c.2718_2720del" "r.(?)" "p.(Glu907del)" "" "0000714218" "00023832" "10" "2808" "0" "2828" "0" "c.2808_2828dup" "r.(?)" "p.(Glu936_Glu942dup)" "" "0000714219" "00023832" "10" "2976" "0" "2990" "0" "c.2976_2990del" "r.(?)" "p.(Glu994_Glu998del)" "" "0000714220" "00023832" "10" "3060" "0" "3071" "0" "c.3060_3071del" "r.(?)" "p.(Val1025_Glu1028del)" "" "0000714221" "00023832" "10" "3074" "0" "3085" "0" "c.3074_3085del" "r.(?)" "p.(Val1025_Glu1028del)" "" "0000714222" "00023832" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000714223" "00023832" "90" "1245" "2" "1245" "2" "c.1245+2T>C" "r.spl" "p.?" "" "0000714224" "00023832" "90" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Gly436Asp)" "" "0000714225" "00023832" "90" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449*)" "" "0000714226" "00023832" "90" "1372" "0" "1373" "0" "c.1372_1373del" "r.(?)" "p.(Ser458Cysfs*4)" "" "0000714227" "00023832" "90" "1685" "0" "1686" "0" "c.1685_1686del" "r.(?)" "p.(His562Argfs*20)" "" "0000714228" "00023832" "90" "2185" "0" "2185" "0" "c.2185del" "r.(?)" "p.(Glu729Argfs*86)" "" "0000714229" "00023832" "90" "1938" "0" "1939" "0" "c.1938_1939insAGAGG" "r.(?)" "p.(Ala647Argfs*52)" "" "0000714230" "00023832" "90" "2105" "0" "2213" "0" "c.2105_2213dup" "r.(?)" "p.(Glu742Glyfs*64)" "" "0000714231" "00023832" "90" "2122" "0" "2122" "0" "c.2122G>T" "r.(?)" "p.(Glu708*)" "" "0000714232" "00023832" "90" "2146" "0" "2146" "0" "c.2146G>T" "r.(?)" "p.(Glu716*)" "" "0000714233" "00023832" "90" "2176" "0" "2176" "0" "c.2176G>T" "r.(?)" "p.(Glu726*)" "" "0000714234" "00023832" "90" "2260" "0" "2260" "0" "c.2260G>T" "r.(?)" "p.(Glu754*)" "" "0000714235" "00023832" "90" "2176" "0" "2176" "0" "c.2176G>T" "r.(?)" "p.(Glu726*)" "" "0000714236" "00023832" "90" "2260" "0" "2260" "0" "c.2260G>T" "r.(?)" "p.(Glu754*)" "" "0000714237" "00023832" "90" "2176" "0" "2176" "0" "c.2176G>T" "r.(?)" "p.(Glu726*)" "" "0000714238" "00023832" "90" "2260" "0" "2260" "0" "c.2260G>T" "r.(?)" "p.(Glu754*)" "" "0000714239" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714240" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714241" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714242" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714243" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714244" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714245" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714246" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714247" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714248" "00023832" "90" "2234" "0" "2237" "0" "c.2234_2237del" "r.(?)" "p.(Arg745Lysfs*69)" "" "0000714249" "00023832" "90" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753Lysfs*61)" "" "0000714250" "00023832" "90" "2323" "0" "2324" "0" "c.2323_2324del" "r.(?)" "p.(Arg775Glufs*59)" "" "0000714251" "00023832" "90" "2384" "0" "2384" "0" "c.2384del" "r.(?)" "p.(Glu795Glyfs*20)" "" "0000714252" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714253" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714254" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714255" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714256" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714257" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714258" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714259" "00023832" "90" "2937" "0" "2938" "0" "c.2937_2938del" "r.(?)" "p.(Glu980Glyfs*98)" "" "0000714260" "00023832" "90" "2997" "0" "2998" "0" "c.2997_2998del" "r.(?)" "p.(Glu1000Glyfs*78)" "" "0000714261" "00023832" "90" "3092" "0" "3093" "0" "c.3092_3093del" "r.(?)" "p.(Glu1031Glyfs*47)" "" "0000714262" "00023832" "90" "310" "1" "310" "1" "c.310+1G>C" "r.spl" "p.?" "" "0000714263" "00023832" "90" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Arg127Gly)" "" "0000714264" "00023832" "90" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449*)" "" "0000714265" "00023832" "90" "415" "0" "415" "0" "c.415G>T" "r.(?)" "p.(Glu139*)" "" "0000714266" "00023832" "90" "2665" "0" "2665" "0" "c.2665G>T" "r.(?)" "p.(Glu889*)" "" "0000714267" "00023832" "90" "485" "0" "486" "0" "c.485_486del" "r.(?)" "p.(Phe162Tyrfs*4)" "" "0000714268" "00023832" "90" "2929" "0" "2929" "0" "c.2929G>T" "r.(?)" "p.(Gly977*)" "" "0000714269" "00023832" "90" "492" "0" "492" "0" "c.492G>A" "r.(?)" "p.(Trp164*)" "" "0000714270" "00023832" "90" "2847" "0" "2848" "0" "c.2847_2848delinsCT" "r.(?)" "p.(Glu949_Glu950delinsAsp*)" "" "0000714271" "00023832" "90" "517" "0" "517" "0" "c.517G>C" "r.(?)" "p.(Gly173Arg)" "" "0000714272" "00023832" "90" "629" "0" "639" "0" "c.629_639del" "r.(?)" "p.(Glu210Valfs*5)" "" "0000714273" "00023832" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000714274" "00023832" "90" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Cys250Tyr)" "" "0000714275" "00023832" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000714276" "00023832" "10" "2517" "0" "2518" "0" "c.2517_2518del" "r.(?)" "p.(Glu841Glyfs*237)" "" "0000714277" "00023832" "90" "771" "0" "773" "0" "c.771_773del" "r.(?)" "p.(Leu258del)" "" "0000714278" "00023832" "90" "517" "0" "517" "0" "c.517G>C" "r.(?)" "p.(Gly173Arg)" "" "0000714279" "00023832" "90" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Arg)" "" "0000714280" "00023832" "90" "2002" "0" "2002" "0" "c.2002del" "r.(?)" "p.(His668Thrfs*29)" "" "0000714281" "00023832" "90" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Ile289Val)" "" "0000714282" "00023832" "90" "2952" "0" "2978" "0" "c.2952_2978delinsT" "r.(?)" "p.(Glu984Aspfs*86)" "" "0000714283" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000714284" "00023832" "90" "1953" "0" "1953" "0" "c.1953dup" "r.(?)" "p.(Glu652*)" "" "0000714285" "00023832" "90" "3092" "0" "3093" "0" "c.3092_3093del" "r.(?)" "p.(Glu1031Glyfs*47)" "" "0000714286" "00023832" "90" "154" "0" "154" "0" "c.154G>T" "r.(?)" "p.(Gly52*)" "" "0000714287" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000714288" "00023832" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "" "0000714289" "00023832" "10" "3428" "0" "3428" "0" "c.3428A>G" "r.(?)" "p.(Asn1143Ser)" "" "0000714290" "00023832" "90" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Ser1107Valfs*4)" "" "0000714291" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714292" "00023832" "90" "2985" "0" "2986" "0" "c.2985_2986del" "r.(?)" "p.(Glu996Argfs*82)" "" "0000714293" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714294" "00023832" "90" "1926" "0" "1926" "0" "c.1926dup" "r.(?)" "p.(Ser643Ilefs*10)" "" "0000714295" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*)" "" "0000714296" "00023832" "10" "2586" "0" "2587" "0" "c.2586_2587del" "r.(?)" "p.(Glu863Argfs*215)" "" "0000714297" "00023832" "10" "2613" "0" "2614" "0" "c.2613_2614dup" "r.(?)" "p.(Glu872Glyfs*218)" "" "0000714298" "00023832" "90" "1872" "0" "1873" "0" "c.1872_1873del" "r.(?)" "p.(Glu624Aspfs*5)" "" "0000714299" "00023832" "10" "2543" "0" "2543" "0" "c.2543del" "r.(?)" "p.(Glu848Glyfs*241)" "" "0000714300" "00023832" "10" "2628" "0" "2629" "0" "c.2628_2629del" "r.(?)" "p.(Glu877Glyfs*201)" "" "0000714301" "00023832" "90" "2997" "0" "2998" "0" "c.2997_2998del" "r.(?)" "p.(Glu1000Glyfs*78)" "" "0000714302" "00023832" "90" "3232" "0" "3232" "0" "c.3232G>T" "r.(?)" "p.(Glu1078*)" "" "0000714303" "00023832" "90" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000714304" "00023832" "90" "2384" "0" "2384" "0" "c.2384del" "r.(?)" "p.(Glu795Glyfs*20)" "" "0000714305" "00023832" "90" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826Glyfs*8)" "" "0000714306" "00023832" "90" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826Glyfs*8)" "" "0000714307" "00023832" "90" "2480" "0" "2520" "0" "c.2480_2520dup" "r.(?)" "p.(Glu841Lysfs*262)" "" "0000714308" "00023832" "10" "2590" "0" "2590" "0" "c.2590G>T" "r.(?)" "p.(Glu864*)" "" "0000714309" "00023832" "90" "2782" "0" "2782" "0" "c.2782G>T" "r.(?)" "p.(Gly928*)" "" "0000714310" "00023832" "90" "3316" "0" "3319" "0" "c.3316_3319del" "r.(?)" "p.(Lys1106Glnfs*24)" "" "0000714311" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000714312" "00023832" "10" "2501" "0" "2572" "0" "c.2501_2572del" "r.(?)" "p.(Glu834_Lys857del)" "" "0000714313" "00023832" "10" "2667" "0" "2669" "0" "c.2667_2669del" "r.(?)" "p.(Glu890del)" "" "0000714314" "00023832" "90" "2189" "0" "2189" "0" "c.2189del" "r.(?)" "p.(Gly730Glufs*85)" "" "0000714315" "00023832" "90" "2218" "0" "2218" "0" "c.2218G>T" "r.(?)" "p.(Glu740*)" "" "0000714316" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714317" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000714318" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714319" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000714320" "00023832" "90" "2683" "0" "2683" "0" "c.2683G>T" "r.(?)" "p.(Gly895*)" "" "0000714321" "00023832" "90" "2812" "0" "2812" "0" "c.2812G>T" "r.(?)" "p.(Glu938*)" "" "0000714322" "00023832" "90" "2840" "0" "2844" "0" "c.2840_2844del" "r.(?)" "p.(Glu947Glyfs*130)" "" "0000714323" "00023832" "10" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "" "0000714324" "00023832" "10" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Ala388=)" "" "0000714325" "00023832" "10" "1246" "-13" "1246" "-13" "c.1246-13del" "r.(?)" "p.(=)" "" "0000714326" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "" "0000714327" "00023832" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "" "0000714328" "00023832" "10" "1507" "-103" "1507" "-100" "c.1507-103_1507-100del" "r.(?)" "p.(=)" "" "0000714329" "00023832" "10" "1507" "-93" "1507" "-92" "c.1507-93_1507-92del" "r.(?)" "p.(=)" "" "0000714330" "00023832" "10" "1507" "-93" "1507" "-92" "c.1507-93_1507-92dup" "r.(?)" "p.(=)" "" "0000714331" "00023832" "10" "1507" "-97" "1507" "-97" "c.1507-97T>C" "r.(?)" "p.(=)" "" "0000714332" "00023832" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(?)" "p.(=)" "" "0000714333" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "" "0000714334" "00000592" "10" "2149" "46" "2149" "46" "c.2149+46C>T" "r.(?)" "p.(=)" "" "0000714335" "00000592" "10" "2241" "11" "2241" "11" "c.2241+11T>C" "r.(?)" "p.(=)" "" "0000714336" "00023832" "10" "2493" "0" "2494" "0" "c.2493_2494del" "r.(?)" "p.(Glu832Glyfs*2)" "" "0000714337" "00023832" "10" "2499" "0" "2499" "0" "c.2499del" "r.(?)" "p.(Glu834Argfs*255)" "" "0000714338" "00023832" "10" "2505" "0" "2506" "0" "c.2505_2506del" "r.(?)" "p.(Glu836Argfs*242)" "" "0000714339" "00023832" "10" "2516" "0" "2520" "0" "c.2516_2520del" "r.(?)" "p.(Glu839Glyfs*238)" "" "0000714340" "00023832" "10" "2517" "0" "2518" "0" "c.2517_2518del" "r.(?)" "p.(Glu841Glyfs*237)" "" "0000714341" "00023832" "10" "2571" "0" "2572" "0" "c.2571_2572del" "r.(?)" "p.(Glu859Glyfs*219)" "" "0000714342" "00023832" "10" "2613" "0" "2614" "0" "c.2613_2614del" "r.(?)" "p.(Glu872Glyfs*206)" "" "0000714343" "00023832" "10" "619" "16" "619" "16" "c.619+16A>G" "r.(?)" "p.(=)" "" "0000714344" "00023832" "10" "620" "-41" "620" "-41" "c.620-41T>C" "r.(?)" "p.(=)" "" "0000714345" "00023832" "10" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Lys244=)" "" "0000714346" "00023832" "90" "1092" "0" "1093" "0" "c.1092_1093insT" "r.(?)" "p.(Ala365Cysfs*12)" "" "0000714347" "00023832" "90" "1100" "0" "1100" "0" "c.1100del" "r.(?)" "p.(Pro367Leufs*14)" "" "0000714348" "00023832" "90" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Arg)" "" "0000714349" "00023832" "90" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Gly43Glu)" "" "0000714350" "00023832" "90" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Gly436Asp)" "" "0000714351" "00023832" "90" "1376" "0" "1377" "0" "c.1376_1377delTC" "r.(?)" "p.(Leu460Ilefs*2)" "" "0000714352" "00023832" "90" "1573" "-1" "1573" "-1" "c.1573-1G>A" "r.spl" "p.?" "" "0000714353" "00023832" "90" "1582" "0" "1585" "0" "c.1582_1585del" "r.(?)" "p.(Thr528Leufs*4)" "" "0000714354" "00023832" "90" "1747" "0" "1747" "0" "c.1747G>T" "r.(?)" "p.(Glu583*)" "" "0000714355" "00023832" "90" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000714356" "00023832" "90" "1835" "0" "1835" "0" "c.1835dup" "r.(?)" "p.(Asn612Lysfs*18)" "" "0000714357" "00023832" "90" "2106" "0" "2109" "0" "c.2106_2109dup" "r.(?)" "p.(Lys704Glufs*67)" "" "0000714358" "00023832" "90" "2714" "0" "2715" "0" "c.2714_2715del" "r.(?)" "p.(Glu905Glyfs*173)" "" "0000714359" "00023832" "90" "2270" "0" "2271" "0" "c.2270_2271del" "r.(?)" "p.(Glu757Glyfs*12)" "" "0000714360" "00023832" "90" "2293" "0" "2293" "0" "c.2293G>T" "r.(?)" "p.(Glu765*)" "" "0000714361" "00023832" "90" "2340" "0" "2340" "0" "c.2340del" "r.(?)" "p.(Ala781Argfs*34)" "" "0000714362" "00023832" "90" "2357" "0" "2358" "0" "c.2357_2358del" "r.(?)" "p.(Lys786Argfs*48)" "" "0000714363" "00023832" "90" "2403" "0" "2406" "0" "c.2403_2406del" "r.(?)" "p.(Glu802Glyfs*12)" "" "0000714364" "00023832" "90" "2412" "0" "2413" "0" "c.2412_2413del" "r.(?)" "p.(Glu806Glyfs*28)" "" "0000714365" "00023832" "90" "2423" "0" "2424" "0" "c.2423_2424del" "r.(?)" "p.(Lys808Argfs*26)" "" "0000714366" "00023832" "90" "2437" "0" "2437" "0" "c.2437G>T" "r.(?)" "p.(Glu813*)" "" "0000714367" "00023832" "90" "248" "-6" "248" "-6" "c.248-6T>A" "r.spl" "p.?" "" "0000714368" "00023832" "90" "2491" "0" "2491" "0" "c.2491G>T" "r.(?)" "p.(Glu831*)" "" "0000714369" "00023832" "90" "2650" "0" "2650" "0" "c.2650G>T" "r.(?)" "p.(Glu884*)" "" "0000714370" "00023832" "90" "2655" "0" "2656" "0" "c.2655_2656del" "r.(?)" "p.(Glu886Glyfs*192)" "" "0000714371" "00023832" "90" "2659" "0" "2662" "0" "c.2659_2662del" "r.(?)" "p.(Gly887Lysfs*201)" "" "0000714372" "00023832" "90" "2679" "0" "2680" "0" "c.2679_2680del" "r.(?)" "p.(Glu894Glyfs*184)" "" "0000714373" "00023832" "90" "2707" "0" "2707" "0" "c.2707G>T" "r.(?)" "p.(Glu903*)" "" "0000714374" "00023832" "90" "2715" "0" "2716" "0" "c.2715_2716insCCTC" "r.(?)" "p.(Glu906Profs*174)" "" "0000714375" "00023832" "90" "2716" "0" "2716" "0" "c.2716G>T" "r.(?)" "p.(Glu906*)" "" "0000714376" "00023832" "90" "28" "1" "28" "1" "c.28+1G>A" "r.spl" "p.?" "" "0000714377" "00023832" "90" "2800" "0" "2800" "0" "c.2800G>T" "r.(?)" "p.(Glu934*)" "" "0000714378" "00023832" "90" "2851" "0" "2854" "0" "c.2851_2854del" "r.(?)" "p.(Glu951Lysfs*137)" "" "0000714379" "00023832" "90" "2866" "0" "2866" "0" "c.2866del" "r.(?)" "p.(Glu956Argfs*133)" "" "0000714380" "00023832" "90" "2899" "0" "2899" "0" "c.2899del" "r.(?)" "p.(Glu967Lysfs*122)" "" "0000714381" "00023832" "90" "2944" "0" "2944" "0" "c.2944del" "r.(?)" "p.(Glu982Lysfs*107)" "" "0000714382" "00023832" "90" "3007" "0" "3010" "0" "c.3007_3010del" "r.(?)" "p.(Gly1003Argfs*85)" "" "0000714383" "00023832" "90" "3011" "0" "3012" "0" "c.3011_3012del" "r.(?)" "p.(Glu1004Glyfs*74)" "" "0000714384" "00023832" "90" "310" "1" "310" "1" "c.310+1G>A" "r.spl" "p.?" "" "0000714385" "00023832" "90" "310" "1" "310" "1" "c.310+1G>C" "r.spl" "p.?" "" "0000714386" "00023832" "90" "3211" "0" "3211" "0" "c.3211G>T" "r.(?)" "p.(Glu1071*)" "" "0000714387" "00023832" "90" "356" "0" "356" "0" "c.356del" "r.(?)" "p.(Leu119Trpfs*14)" "" "0000714388" "00023832" "90" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Arg127Gly)" "" "0000714389" "00023832" "90" "485" "0" "486" "0" "c.485_486del" "r.(?)" "p.(Phe162Tyrfs*4)" "" "0000714390" "00023832" "90" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ser202*)" "" "0000714391" "00023832" "90" "747" "0" "747" "0" "c.747del" "r.(?)" "p.(Cys250Valfs*48)" "" "0000714392" "00023832" "90" "779" "-1" "779" "-1" "c.779-1G>A" "r.spl" "p.?" "" "0000714393" "00023832" "90" "837" "0" "837" "0" "c.837del" "r.(?)" "p.(Leu280Phefs*18)" "" "0000714394" "00023832" "90" "838" "0" "842" "0" "c.838_842del" "r.(?)" "p.(Leu280*)" "" "0000714395" "00023832" "90" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Glu290Glyfs*8)" "" "0000714396" "00023832" "90" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Cys302Tyr)" "" "0000714397" "00023832" "90" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Asp312Asn)" "" "0000714398" "00023832" "90" "934" "0" "934" "0" "c.934G>T" "r.(?)" "p.(Asp312Tyr)" "" "0000714399" "00023832" "90" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Gly320Arg)" "" "0000714400" "00023832" "90" "980" "0" "980" "0" "c.980T>G" "r.(?)" "p.(Leu327*)" "" "0000714401" "00023832" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "" "0000714402" "00023832" "90" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000714403" "00023832" "90" "3097" "0" "3097" "0" "c.3097_3097del" "r.(?)" "p.(Glu1033Lysfs*56)" "" "0000714404" "00023832" "10" "2506" "0" "2506" "0" "c.2506dup" "r.(?)" "p.(Glu836Glyfs*243)" "" "0000714405" "00023832" "10" "2586" "0" "2587" "0" "c.2586_2587del" "r.(?)" "p.(Glu863Argfs*215)" "" "0000714406" "00023832" "10" "2613" "0" "2614" "0" "c.2613_2614dup" "r.(?)" "p.(Glu872Glyfs*218)" "" "0000714407" "00023832" "10" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000714408" "00023832" "10" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000714409" "00023832" "10" "2606" "0" "2620" "0" "c.2606_2620del" "r.(?)" "p.(Glu869_Glu873del)" "" "0000714410" "00023832" "10" "3060" "0" "3071" "0" "c.3060_3071del" "r.(?)" "p.(Val1025_Glu1028del)" "" "0000714411" "00023832" "10" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "" "0000714412" "00023832" "10" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "" "0000714413" "00023832" "10" "2919" "0" "2939" "0" "c.2919_2939dup" "r.(?)" "p.(Gly977_Glu983dup)" "" "0000728859" "00023832" "90" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Ser1107ValfsTer4)" "" "0000728859" "00000592" "90" "1905" "1412" "1905" "1412" "c.1905+1412dup" "r.(=)" "p.(=)" "" "0000728860" "00023832" "70" "1792" "0" "1792" "0" "c.1792G>T" "r.(?)" "p.(Gly598*)" "" "0000728860" "00000592" "70" "1792" "0" "1792" "0" "c.1792G>T" "r.(?)" "p.(Gly598*)" "" "0000728861" "00023832" "50" "1696" "0" "1696" "0" "c.1696G>C" "r.(?)" "p.(Gly566Arg)" "" "0000728861" "00000592" "50" "1696" "0" "1696" "0" "c.1696G>C" "r.(?)" "p.(Gly566Arg)" "" "0000728862" "00023832" "30" "1507" "-7" "1507" "-7" "c.1507-7A>G" "r.(=)" "p.(=)" "" "0000728862" "00000592" "30" "1507" "-7" "1507" "-7" "c.1507-7A>G" "r.(=)" "p.(=)" "" "0000729747" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000729748" "00023832" "70" "591" "0" "591" "0" "c.591T>G" "r.(?)" "p.(Cys197Trp)" "" "0000729765" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000729797" "00023832" "90" "3142" "0" "3143" "0" "c.3142_3143dup" "r.(?)" "p.(Glu1049Argfs*41)" "" "0000729798" "00023832" "90" "2716" "0" "2716" "0" "c.2716G>T" "r.(?)" "p.(Glu906*)" "" "0000730694" "00023832" "90" "3458" "0" "3458" "0" "c.3458A>C" "r.(?)" "p.(*1153Serext*38)" "15" "0000731583" "00023832" "90" "3081" "0" "3082" "0" "c.3081_3082del" "r.(?)" "p.(Glu1028Glyfs*50)" "" "0000732438" "00023832" "90" "905" "0" "905" "0" "c.905G>C" "r.(?)" "p.(Cys302Ser)" "" "0000732439" "00023832" "90" "1243" "0" "1244" "0" "c.1243_1244delAG" "r.(?)" "p.(Arg415Glyfs*37)" "" "0000732551" "00023832" "90" "1088" "0" "1089" "0" "c.1088_1089delinsA" "r.(?)" "p.(Val363Aspfs*18)" "" "0000732551" "00000592" "90" "1088" "0" "1089" "0" "c.1088_1089delinsA" "r.(?)" "p.(Val363Aspfs*18)" "" "0000732569" "00023832" "90" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Gln66Arg)" "" "0000732569" "00000592" "90" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Gln66Arg)" "" "0000732617" "00023832" "90" "1088" "0" "1089" "0" "c.1088_1089delinsA" "r.(?)" "p.(Val363Aspfs*18)" "" "0000732617" "00000592" "90" "1088" "0" "1089" "0" "c.1088_1089delinsA" "r.(?)" "p.(Val363Aspfs*18)" "" "0000732620" "00023832" "90" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Gln66Arg)" "" "0000732620" "00000592" "90" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Gln66Arg)" "" "0000732678" "00023832" "70" "1572" "3" "1572" "3" "c.1572+3A>T" "r.spl?" "p.?" "" "0000732678" "00000592" "70" "1572" "3" "1572" "3" "c.1572+3A>T" "r.spl?" "p.?" "" "0000732757" "00023832" "70" "2679" "0" "2680" "0" "c.2679_2680del" "r.(?)" "p.(Glu894Glyfs*184)" "" "0000732758" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000732759" "00023832" "70" "2944" "0" "2944" "0" "c.2944del" "r.(?)" "p.(Glu982Lysfs*107)" "" "0000732760" "00023832" "70" "2176" "0" "2176" "0" "c.2176G>T" "r.(?)" "p.(Glu726*)" "" "0000732768" "00023832" "70" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "" "0000732769" "00023832" "70" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "" "0000732770" "00023832" "70" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "" "0000732771" "00023832" "70" "2679" "0" "2680" "0" "c.2679_2680del" "r.(?)" "p.(Glu894Glyfs*184)" "" "0000732772" "00023832" "70" "2679" "0" "2680" "0" "c.2679_2680del" "r.(?)" "p.(Glu894Glyfs*184)" "" "0000732773" "00023832" "70" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931Glyfs*147)" "" "0000732774" "00023832" "70" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931Glyfs*147)" "" "0000732775" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000732776" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000732777" "00023832" "70" "3092" "0" "3093" "0" "c.3092_3093del" "r.(?)" "p.(Glu1031Glyfs*47)" "" "0000732778" "00023832" "70" "2419" "0" "2419" "0" "c.2419G>T" "r.(?)" "p.(Glu807*)" "" "0000732779" "00023832" "70" "2867" "0" "2867" "0" "c.2867del" "r.(?)" "p.(Glu956Glyfs*133)" "" "0000732780" "00023832" "70" "2628" "0" "2629" "0" "c.2628_2629del" "r.(?)" "p.(Glu877Glyfs*201)" "" "0000732781" "00023832" "70" "2818" "0" "2818" "0" "c.2818del" "r.(?)" "p.(Glu940Lysfs*149)" "" "0000732782" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "" "0000732783" "00023832" "70" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000732784" "00023832" "70" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000732785" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000732786" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000732787" "00023832" "70" "2176" "0" "2176" "0" "c.2176G>T" "r.(?)" "p.(Glu726*)" "" "0000732788" "00023832" "70" "2023" "0" "2023" "0" "c.2023G>T" "r.(?)" "p.(Glu675*)" "" "0000732789" "00023832" "70" "2293" "0" "2293" "0" "c.2293G>T" "r.(?)" "p.(Glu765*)" "" "0000732790" "00023832" "70" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "" "0000732791" "00023832" "70" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753Lysfs*61)" "" "0000732792" "00023832" "70" "173" "0" "173" "0" "c.173T>A" "r.(?)" "p.(Met58Lys)" "" "0000732793" "00023832" "70" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Glu125Lysfs*8)" "" "0000732794" "00023832" "70" "466" "0" "466" "0" "c.466A>C" "r.(?)" "p.(Thr156Pro)" "" "0000732795" "00023832" "70" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31*)" "" "0000732796" "00023832" "70" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "" "0000732797" "00023832" "70" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "" "0000732814" "00023832" "70" "527" "0" "527" "0" "c.527del" "r.(?)" "p.(Asn176Metfs*2)" "" "0000732815" "00023832" "70" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Gln523*)" "" "0000732845" "00023832" "70" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(Gly60Val)" "" "0000732846" "00023832" "70" "2679" "0" "2680" "0" "c.2679_2680del" "r.(?)" "p.(Glu894Glyfs*184)" "" "0000732847" "00023832" "70" "501" "0" "501" "0" "c.501T>A" "r.(?)" "p.(Asn167Lys)" "" "0000732848" "00023832" "70" "2323" "0" "2324" "0" "c.2323_2324del" "r.(?)" "p.(Arg775Glufs*59)" "" "0000732852" "00023832" "70" "3278" "0" "3279" "0" "c.3278_3279del" "r.(?)" "p.(Gly1093Valfs*8)" "" "0000732853" "00023832" "70" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000732854" "00023832" "70" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000732855" "00023832" "70" "3178" "0" "3179" "0" "c.3178_3179del" "r.(?)" "p.(Glu1060Argfs*18)" "" "0000732856" "00023832" "70" "3160" "0" "3160" "0" "c.3160G>T" "r.(?)" "p.(Glu1054*)" "" "0000732857" "00023832" "70" "3317" "0" "3317" "0" "c.3317del" "r.(?)" "p.(Lys1106Serfs*25)" "" "0000733091" "00023832" "70" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Gly269Glu)" "" "0000733092" "00023832" "70" "380" "0" "383" "0" "c.380_383del" "r.(?)" "p.(Arg127Thrfs*5)" "" "0000734360" "00023832" "70" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Gly95Glu)" "" "0000734361" "00023832" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000734362" "00023832" "70" "1477" "0" "1477" "0" "c.1477del" "r.(?)" "p.(Gly494Glufs*7)" "" "0000734709" "00023832" "90" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Arg)" "" "0000734715" "00023832" "50" "2729" "0" "2729" "0" "c.2729G>A" "r.(?)" "p.(Gly910Glu)" "" "0000735664" "00023832" "90" "1671" "0" "1671" "0" "c.1671del" "r.(?)" "p.(Ala558Hisfs*12)" "" "0000735665" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000735666" "00023832" "90" "2384" "0" "2384" "0" "c.2384del" "r.(?)" "p.(Glu795Glyfs*20)" "" "0000735667" "00023832" "90" "248" "-28" "248" "-10" "c.248-28_248-10del" "r.spl?" "p.?" "" "0000735668" "00023832" "90" "2947" "0" "2947" "0" "c.2947G>T" "r.(?)" "p.(Glu983*)" "" "0000735669" "00023832" "90" "2993" "0" "2996" "0" "c.2993_2996del" "r.(?)" "p.(Glu998Glyfs*90)" "" "0000735670" "00023832" "90" "423" "0" "423" "0" "c.423del" "r.(?)" "p.(Ile142Leufs*14)" "" "0000735671" "00023832" "90" "485" "0" "486" "0" "c.485_486del" "r.(?)" "p.(Phe162Tyrfs*4)" "" "0000735857" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746ArgfsTer23)" "" "0000735941" "00023832" "70" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247Ter)" "" "0000735942" "00023832" "70" "888" "0" "889" "0" "c.888_889delAA" "r.(?)" "p.(Ile297LysfsTer48)" "" "0000735943" "00023832" "70" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753LysfsTer61)" "" "0000735949" "00023832" "70" "619" "1" "619" "1" "c.619+1G>T" "r.spl" "p.?" "" "0000735965" "00023832" "70" "347" "0" "349" "0" "c.347_349delAAG" "r.(?)" "p.(Glu116del)" "" "0000736097" "00023832" "70" "815" "0" "815" "0" "c.815G>T" "r.(?)" "p.(Gly272Val)" "" "0000736103" "00023832" "70" "247" "2" "247" "2" "c.247+2T>C" "r.spl" "p.?" "" "0000736218" "00023832" "90" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "8" "0000736219" "00023832" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Cys)" "8" "0000736220" "00023832" "90" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "2" "0000736221" "00023832" "90" "89" "0" "89" "0" "c.89delT" "r.(?)" "p.(Phe30Serfs*38)" "2" "0000736484" "00000592" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000736485" "00000592" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000759602" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000759603" "00023832" "90" "295" "0" "295" "0" "c.295A>G" "r.(?)" "p.(Thr99Ala)" "" "0000759604" "00023832" "90" "1928" "0" "1928" "0" "c.1928C>G" "r.(?)" "p.(Ser643*)" "" "0000759605" "00023832" "90" "2007" "0" "2007" "0" "c.2007G>A" "r.(?)" "p.(Trp669*)" "" "0000759664" "00023832" "90" "2333" "0" "2333" "0" "c.2333del" "r.(?)" "p.(Glu778GlyfsTer37)" "" "0000759667" "00023832" "70" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Gly165Asp)" "" "0000759926" "00023832" "90" "2143" "0" "2144" "0" "c.2143_2144dup" "r.(?)" "p.(Glu716Glyfs*100)" "" "0000759927" "00023832" "90" "2008" "0" "2017" "0" "c.2008_2017del" "r.(?)" "p.(Gln670Argfs*24)" "" "0000759928" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000760172" "00023832" "70" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000760255" "00023832" "70" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "" "0000760270" "00023832" "50" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Gln270Ter)" "" "0000760299" "00023832" "50" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Gly303Glu)" "" "0000760319" "00023832" "70" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194Ter)" "" "0000760328" "00023832" "50" "1572" "1" "1572" "1" "c.1572+1del" "r.spl" "p.?" "" "0000760350" "00023832" "70" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "" "0000760647" "00023832" "90" "3168" "0" "3168" "0" "c.3168G>C" "r.(?)" "p.(Arg1056Ser)" "" "0000760652" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000764532" "00000592" "90" "323" "0" "328" "0" "c.323_328del" "r.(?)" "p.(Val108_Tyr109del)" "5" "0000764533" "00000592" "90" "753" "0" "754" "0" "c.753_754del" "r.(?)" "p.(Gly252Argfs*30)" "7" "0000764534" "00000592" "90" "1175" "0" "1175" "0" "c.1175del" "r.(?)" "p.(Pro392Argfs*5)" "10" "0000764535" "00000592" "90" "1216" "0" "1217" "0" "c.1216_1217del" "r.(?)" "p.(Leu406Ilefs*46)" "10" "0000764536" "00000592" "90" "1685" "0" "1686" "0" "c.1685_1686del" "r.(=)" "p.(His562Argfs*20)" "14" "0000764537" "00000592" "90" "122" "0" "122" "0" "c.122C>G" "r.(?)" "p.(Ser41*)" "2" "0000764538" "00000592" "90" "310" "3" "310" "3" "c.310+3A>G" "r.spl?" "p.?" "4i" "0000764539" "00000592" "90" "1246" "-2" "1246" "-2" "c.1246-2A>C" "r.spl?" "p.?" "10i" "0000764540" "00000592" "90" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Gly65Val)" "3" "0000764541" "00000592" "90" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Ile195Val)" "6" "0000764542" "00000592" "90" "800" "0" "800" "0" "c.800G>A" "r.(?)" "p.(Gly267Glu)" "8" "0000764543" "00000592" "90" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Gly272Ser)" "8" "0000764544" "00000592" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "8" "0000764545" "00000592" "90" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "2" "0000764546" "00023832" "90" "2189" "0" "2189" "0" "c.2189del" "r.(=)" "p.(Gly730Glufs*85)" "12" "0000764547" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(Glu746Argfs*23)" "12" "0000764548" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(Glu746Argfs*23)" "12" "0000764549" "00023832" "90" "2241" "0" "2242" "0" "c.2241_2242del" "r.(=)" "p.(Glu748Argfs*21)" "12" "0000764550" "00023832" "90" "2270" "0" "2271" "0" "c.2270_2271del" "r.(=)" "p.(=)" "12" "0000764551" "00023832" "90" "2403" "0" "2406" "0" "c.2403_2406del" "r.(=)" "p.(Glu802Glyfs*12)" "12" "0000764552" "00023832" "90" "2403" "0" "2406" "0" "c.2403_2406del" "r.(=)" "p.(Glu802Glyfs*12)" "12" "0000764553" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000764554" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000764555" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000764556" "00023832" "90" "2464" "0" "2468" "0" "c.2464 _2468del" "r.(=)" "p.(=)" "12" "0000764557" "00023832" "90" "2473" "0" "2486" "0" "c.2473_2486del" "r.(=)" "p.(Glu825Argfs*5)" "12" "0000764558" "00023832" "90" "2506" "0" "2506" "0" "c.2506del" "r.(=)" "p.(Glu836Lysfs*253)" "12" "0000764559" "00023832" "90" "2792" "0" "2792" "0" "c.2792del" "r.(=)" "p.(Glu931Glyfs*158)" "12" "0000764560" "00023832" "90" "2838" "0" "2839" "0" "c.2838_2839del" "r.(=)" "p.(Glu947Glyfs*131)" "12" "0000764561" "00023832" "90" "2840" "0" "2844" "0" "c.2840_2844del" "r.(=)" "p.(Glu947Glyfs*130)" "12" "0000764562" "00023832" "90" "2840" "0" "2840" "0" "c.2840del" "r.(=)" "p.(Glu947Glyfs*142)" "12" "0000764563" "00023832" "90" "2867" "0" "2867" "0" "c.2867del" "r.(=)" "p.(=)" "12" "0000764564" "00023832" "90" "3007" "0" "3010" "0" "c.3007_3010del" "r.(=)" "p.(Gly1003Argfs*85)" "12" "0000764565" "00023832" "90" "3027" "0" "3028" "0" "c.3027_3028del" "r.(=)" "p.(Glu1010Glyfs*68)" "12" "0000764566" "00023832" "90" "3394" "0" "3395" "0" "c.3394_3395del" "r.(=)" "p.(Asn1132Argfs*11)" "12" "0000764567" "00023832" "90" "2506" "0" "2506" "0" "c.2506dup" "r.(?)" "p.(Glu836fs)" "12" "0000764568" "00023832" "90" "2707" "0" "2757" "0" "c.2707_2757dup" "r.(?)" "-" "12" "0000764569" "00023832" "90" "2635" "0" "2635" "0" "c.2635dup" "r.(=)" "p.(=)" "12" "0000764570" "00023832" "90" "2924" "0" "2943" "0" "c.2924_2943dup" "r.(?)" "p.(Glu982Argfs*114)" "12" "0000764571" "00023832" "50" "3009" "0" "3038" "0" "c.3009_3038del" "r.(?)" "-" "12" "0000764572" "00023832" "90" "2931" "0" "2932" "0" "c.2931_2932ins[AAAGG;2908_2931]" "r.(?)" "p.(Glu393Lysfs*121)" "12" "0000764573" "00023832" "90" "2218" "0" "2218" "0" "c.2218G>T" "r.(=)" "p.(Glu740*)" "12" "0000764574" "00023832" "90" "2305" "0" "2305" "0" "c.2305G>A" "r.(=)" "p.(Glu769Lys)" "12" "0000764575" "00023832" "90" "2467" "0" "2467" "0" "c.2467A>T" "r.(=)" "p.(Lys823*)" "12" "0000764576" "00023832" "90" "2557" "0" "2557" "0" "c.2557G>T" "r.(=)" "p.(Glu853*)" "12" "0000764577" "00023832" "90" "2683" "0" "2683" "0" "c.2683G>T" "r.(=)" "p.(Gly895*)" "12" "0000764578" "00023832" "90" "2683" "0" "2683" "0" "c.2683G>T" "r.(=)" "p.(Gly895*)" "12" "0000764579" "00023832" "90" "2812" "0" "2812" "0" "c.2812G>T" "r.(=)" "p.(Glu938*)" "12" "0000764580" "00023832" "90" "2494" "0" "2494" "0" "c.2494G>T" "r.(=)" "p.(Glu832*)" "12" "0000764927" "00023832" "70" "1245" "1" "1245" "1" "c.1245+1G>T" "r.spl" "p.?" "" "0000764928" "00023832" "70" "3011" "0" "3012" "0" "c.3011_3012del" "r.(?)" "p.(Glu1004GlyfsTer74)" "" "0000765196" "00023832" "90" "1932" "0" "1933" "0" "c.1932_1933insC" "r.(?)" "p.(Gly645ArgfsTer8)" "" "0000765449" "00023832" "90" "139" "0" "140" "0" "c.139_140insTCTGC" "r.(?)" "p.(Ser47PhefsTer23)" "" "0000765450" "00023832" "90" "3241" "0" "3241" "0" "c.3241del" "r.(?)" "p.(Asp1081MetfsTer8)" "" "0000765451" "00023832" "90" "3364" "0" "3364" "0" "c.3364del" "r.(?)" "p.(Met1122CysfsTer9)" "" "0000765473" "00023832" "70" "1967" "0" "1967" "0" "c.1967A>T" "r.(?)" "p.(Asp656Val)" "" "0000765474" "00023832" "70" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Glu734Lys)" "" "0000765491" "00023832" "70" "1282" "0" "1282" "0" "c.1282C>G" "r.(?)" "p.(Leu428Val)" "" "0000765492" "00023832" "70" "2135" "0" "2135" "0" "c.2135A>G" "r.(?)" "p.(Gln712Arg)" "" "0000765573" "00023832" "90" "2245" "0" "2245" "0" "c.2245G>T" "r.(?)" "p.(Glu749*)" "" "0000765574" "00023832" "90" "3039" "0" "3040" "0" "c.3039_3040del" "r.(?)" "p.(Glu1014Glyfs*64)" "" "0000765575" "00023832" "90" "1495" "0" "1495" "0" "c.1495dup" "r.spl" "p.(Ile499Asnfs*14)" "" "0000783263" "00023832" "90" "485" "0" "486" "0" "c.485_486delTT" "r.(?)" "p.(Phe162TyrfsTer4)" "" "0000783890" "00023832" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl" "p.?" "" "0000784125" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000784162" "00023832" "50" "2995" "0" "2995" "0" "c.2995G>T" "r.(?)" "p.(Gly999Trp)" "" "0000784223" "00023832" "90" "310" "1" "310" "1" "c.310+1G>A" "r.spl" "p.?" "" "0000784224" "00023832" "90" "530" "0" "530" "0" "c.530dup" "r.(?)" "p.(Ser178LysfsTer2)" "" "0000784225" "00023832" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000784226" "00023832" "90" "2072" "0" "2073" "0" "c.2072_2073insG" "r.(?)" "p.(Glu693ArgfsTer77)" "" "0000784227" "00023832" "90" "2420" "0" "2435" "0" "c.2420_2435del" "r.(?)" "p.(Glu807GlyfsTer3)" "" "0000784228" "00023832" "90" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826GlyfsTer8)" "" "0000784436" "00023832" "50" "2057" "0" "2057" "0" "c.2057T>A" "r.(?)" "p.(Met686Lys)" "" "0000784479" "00023832" "50" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "" "0000784480" "00023832" "50" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000784483" "00023832" "50" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "" "0000784484" "00023832" "50" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Ala262Gly)" "" "0000784500" "00023832" "50" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "" "0000785384" "00023832" "90" "485" "0" "486" "0" "c.485_486del" "r.(?)" "p.(Phe162TyrfsTer4)" "" "0000785386" "00023832" "90" "2993" "0" "2996" "0" "c.2993_2996del" "r.(?)" "p.(Glu998GlyfsTer90)" "" "0000785465" "00023832" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809GlyfsTer25)" "" "0000785530" "00023832" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000785594" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000785595" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000786297" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000786362" "00023832" "90" "778" "1" "778" "1" "c.778+1G>C" "r.spl" "p.?" "" "0000786401" "00023832" "90" "3178" "0" "3179" "0" "c.3178_3179del" "r.(?)" "p.(Glu1060ArgfsTer18)" "" "0000786435" "00023832" "90" "392" "0" "393" "0" "c.392_393insGAA" "r.(?)" "p.(His131delinsGlnAsn)" "" "0000786436" "00023832" "90" "469" "2" "469" "2" "c.469+2T>A" "r.spl" "p.?" "" "0000786466" "00023832" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000786507" "00023832" "70" "2023" "0" "2023" "0" "c.2023G>T" "r.(?)" "p.(Glu675Ter)" "" "0000786508" "00023832" "70" "443" "0" "443" "0" "c.443G>T" "r.(?)" "p.(Gly148Val)" "" "0000786509" "00023832" "70" "1967" "0" "1967" "0" "c.1967del" "r.(?)" "p.(Asp656ValfsTer41)" "" "0000786512" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000787621" "00023832" "70" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Trp669Ter)" "" "0000787642" "00023832" "70" "935" "-2" "935" "-2" "c.935-2A>G" "r.spl" "p.?" "" "0000787661" "00023832" "70" "2377" "0" "2377" "0" "c.2377C>T" "r.(?)" "p.(Gln793Ter)" "" "0000787758" "00023832" "90" "3394" "0" "3395" "0" "c.3394_3395del" "r.(?)" "p.(Asn1132Argfs*11)" "" "0000787758" "00000592" "90" "1905" "1489" "1905" "1490" "c.1905+1489_1905+1490del" "r.(=)" "p.(=)" "" "0000788120" "00023832" "90" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Glu661Ter)" "" "0000788121" "00023832" "90" "1084" "0" "1087" "0" "c.1084_1087dup" "r.(?)" "p.(Val363GlyfsTer15)" "" "0000788122" "00023832" "90" "469" "1" "469" "1" "c.469+1G>A" "r.spl" "p.?" "" "0000788123" "00023832" "90" "894" "0" "895" "0" "c.894_895del" "r.(?)" "p.(Ser298ArgfsTer47)" "" "0000788148" "00023832" "70" "922" "0" "922" "0" "c.922G>C" "r.(?)" "p.(Ala308Pro)" "" "0000788403" "00023832" "50" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Gly357Asp)" "10" "0000789704" "00023832" "55" "2321" "0" "2324" "0" "c.2321_2324del" "r.(?)" "p.(Glu774Glyfs*40)" "6" "0000789773" "00023832" "90" "154" "3" "154" "3" "c.154+3del4" "r.spl?" "p.?" "2i" "0000789774" "00023832" "90" "311" "-9" "311" "-9" "c.311-9del13" "r.spl?" "p.?" "4i" "0000789775" "00023832" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Gly198Glu)" "6" "0000789776" "00023832" "90" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Gly215Val)" "7" "0000789777" "00023832" "90" "779" "-5" "779" "-5" "c.779-5T>G" "r.spl?" "p.?" "7i" "0000789778" "00023832" "90" "812" "0" "813" "0" "c.812_813del" "r.(?)" "p.(Phe271Trpfs*11)" "8" "0000789779" "00023832" "90" "1933" "0" "1934" "0" "c.1933_1934insC" "r.(?)" "p.(Gly645Alafs*8)" "12" "0000789780" "00023832" "90" "2235" "0" "2238" "0" "c.2235_2238del" "r.(?)" "p.(Glu746Argfs*68)" "12" "0000789781" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "12" "0000789782" "00023832" "90" "2268" "0" "2268" "0" "c.2268del" "r.(?)" "p.(Glu757Argfs*58)" "12" "0000789783" "00023832" "10" "1507" "-101" "1507" "-101" "c.1507-101A>T" "r.spl?" "p.?" "11i" "0000789784" "00023832" "90" "2270" "0" "2271" "0" "c.2270_2271del" "r.(?)" "p.(Glu757Glyfs*12)" "12" "0000789785" "00023832" "90" "2321" "0" "2330" "0" "c.2321_2330del" "r.(?)" "p.(Glu774Glyfs*38)" "12" "0000789786" "00023832" "90" "2340" "0" "2341" "0" "c.2340_2341del" "r.(?)" "p.(Arg780Serfs*54)" "12" "0000789787" "00023832" "90" "3060" "0" "3071" "0" "c.3060_3071del" "r.(=)" "p.(Val1025_Glu1028del)" "12" "0000789788" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "12" "0000789789" "00023832" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "12" "0000789790" "00023832" "90" "2443" "0" "2443" "0" "c.2443G>T" "r.(?)" "p.(Glu815*)" "12" "0000789791" "00023832" "90" "2467" "0" "2467" "0" "c.2467A>T" "r.(?)" "p.(Lys823*)" "12" "0000789792" "00023832" "90" "2499" "0" "2500" "0" "c.2499_2500dup" "r.(?)" "p.(Glu834Valfs*256)" "12" "0000789793" "00023832" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "11" "0000789794" "00023832" "90" "2501" "0" "2501" "0" "c.2501del" "r.(=)" "p.(Glu834Glyfs*255)" "12" "0000789795" "00023832" "10" "1164" "0" "1164" "0" "c.1164G>A" "r.(=)" "p.(=)" "10" "0000789796" "00023832" "90" "2506" "0" "2506" "0" "c.2506del" "r.(?)" "p.(Glu836Lysfs*253)" "12" "0000789797" "00023832" "10" "1164" "0" "1164" "0" "c.1164G>A" "r.(=)" "p.(=)" "10" "0000789798" "00023832" "90" "2548" "0" "2548" "0" "c.2548del" "r.(?)" "p.(Glu850Lysfs*239)" "12" "0000789799" "00023832" "90" "2548" "0" "2548" "0" "c.2548del" "r.(?)" "p.(Glu850Lysfs*239)" "12" "0000789800" "00023832" "10" "3396" "0" "3396" "0" "c.3396C>T" "r.(?)" "p.(=)" "12" "0000789801" "00023832" "10" "3430" "0" "3430" "0" "c.3430G>A" "r.(=)" "p.(Val1144Ile)" "12" "0000789802" "00023832" "10" "2820" "0" "2840" "0" "c.2820_2840dup" "r.(=)" "p.(Asp943_Glu949dup)" "12" "0000789803" "00023832" "10" "29" "-15" "29" "-15" "c.29-15G>A" "r.spl?" "p.?" "1i" "0000789804" "00023832" "90" "2554" "0" "2554" "0" "c.2554dup" "r.(?)" "p.(Glu852Glyfs*227)" "12" "0000789805" "00023832" "10" "3566" "0" "3566" "0" "c.*107A>C" "r.(=)" "p.(=)" "13" "0000789806" "00023832" "90" "2586" "0" "2587" "0" "c.2586_2587del" "r.(?)" "p.(Glu863Argfs*215)" "12" "0000789807" "00023832" "90" "3060" "0" "3071" "0" "c.3060_3071del" "r.(=)" "p.(Val1025_Glu1028del)" "12" "0000789808" "00023832" "90" "2628" "0" "2629" "0" "c.2628_2629del" "r.(?)" "p.(Glu877Glyfs*201)" "12" "0000789809" "00023832" "90" "2820" "0" "2840" "0" "c.[2820_2840dup21; 2840_2841insA]" "r.?" "p.?" "12" "0000789810" "00023832" "10" "3396" "0" "3396" "0" "c.3396C>T" "r.(?)" "p.(=)" "12" "0000789811" "00023832" "10" "3430" "0" "3430" "0" "c.3430G>A" "r.(=)" "p.(Val1144Ile)" "12" "0000789812" "00023832" "10" "3566" "0" "3566" "0" "c.*107A>C" "r.(=)" "p.(=)" "13" "0000789813" "00023832" "10" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "9" "0000789814" "00023832" "10" "1507" "-101" "1507" "-101" "c.1507-101A>T" "r.spl?" "p.?" "11i" "0000789815" "00023832" "90" "3007" "0" "3010" "0" "c.3007_3010del" "r.(?)" "p.(Gly1003Argfs*85)" "12" "0000789816" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "12" "0000789817" "00023832" "10" "3396" "0" "3396" "0" "c.3396C>T" "r.(?)" "p.(=)" "12" "0000789818" "00023832" "10" "29" "-15" "29" "-15" "c.29-15G>A" "r.spl?" "p.?" "1i" "0000789819" "00023832" "10" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "9" "0000789820" "00023832" "10" "3430" "0" "3430" "0" "c.3430G>A" "r.(=)" "p.(Val1144Ile)" "12" "0000789821" "00023832" "90" "3395" "0" "3395" "0" "c.3395del" "r.(?)" "p.(Asn1132Thrfs*20)" "12" "0000789822" "00023832" "10" "1507" "-101" "1507" "-101" "c.1507-101A>T" "r.spl?" "p.?" "11i" "0000789823" "00023832" "10" "2667" "0" "2669" "0" "c.2667_2669del" "r.(=)" "p.(Glu890del)" "12" "0000789824" "00023832" "10" "2341" "0" "2341" "0" "c.2341G>A" "r.(=)" "p.(Ala781Thr)" "12" "0000789825" "00023832" "10" "29" "-15" "29" "-15" "c.29-15G>A" "r.spl?" "p.?" "1i" "0000789826" "00023832" "10" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "9" "0000789827" "00023832" "10" "1507" "-101" "1507" "-101" "c.1507-101A>T" "r.spl?" "p.?" "11i" "0000789844" "00000592" "70" "2452" "0" "2452" "0" "c.2452del" "r.(=)" "p.(=)" "17" "0000789845" "00000592" "70" "2569" "0" "2569" "0" "c.2569delinsGG" "r.(=)" "p.(=)" "17" "0000789846" "00000592" "70" "2569" "0" "2569" "0" "c.2569delinsGG" "r.(=)" "p.(=)" "17" "0000789850" "00000592" "70" "334" "0" "334" "0" "c.334G>T" "r.(?)" "p.(Gly112Cys)" "5" "0000790344" "00023832" "50" "2847" "0" "2847" "0" "c.2847A>C" "r.(?)" "p.(Glu949Asp)" "12" "0000790345" "00023832" "50" "2847" "0" "2847" "0" "c.2847A>C" "r.(?)" "p.(Glu949Asp)" "12" "0000790346" "00023832" "50" "2847" "0" "2847" "0" "c.2847A>C" "r.(?)" "p.(Glu949Asp)" "12" "0000790347" "00023832" "50" "2929" "0" "2929" "0" "c.2929G>T" "r.(?)" "p.(Gly977*)" "12" "0000790366" "00023832" "90" "1573" "-3" "1573" "-3" "c.1573-3C>G" "r.spl?" "p.?" "11i" "0000790367" "00023832" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Gln467*)" "11" "0000790368" "00023832" "90" "0" "0" "0" "0" "c.?" "r.(?)" "r.spl?" "8" "0000790369" "00023832" "90" "1402" "0" "1405" "0" "c.1402_1405del" "r.(?)" "p.(Pro468Argfs*?)" "11" "0000790370" "00023832" "90" "1059" "2" "1059" "2" "c.1059+2T>C" "r.spl?" "p.?" "9i" "0000790371" "00023832" "90" "248" "-1" "4550" "1" "c.(?_248-1)_(*1091+1_?)del" "r.(?)" "p.?" "3i_13" "0000790372" "00023832" "90" "28" "1" "28" "1" "c.28+1G>A" "r.spl?" "p.?" "1i" "0000790373" "00023832" "90" "0" "0" "0" "0" "c.?" "r.(?)" "r.spl?" "8" "0000790374" "00023832" "90" "1477" "0" "1477" "0" "c.1477del" "r.(?)" "p.(Gly494Glufs*7)" "12" "0000790375" "00023832" "90" "1179" "0" "1179" "0" "c.1179T>G" "r.(?)" "p.(Tyr393*)" "10" "0000790376" "00023832" "90" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Thr255Ile)" "7" "0000790377" "00023832" "90" "1628" "0" "1629" "0" "c.1628_1629insAACGATGA" "r.(=)" "p.(=)" "12" "0000790378" "00023832" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000790379" "00023832" "90" "2506" "0" "2506" "0" "c.2506del" "r.(?)" "p.(Glu836Lysfs*253)" "12" "0000790380" "00023832" "90" "2270" "0" "2271" "0" "c.2270_2271delAG" "r.(=)" "p.(=)" "12" "0000790381" "00023832" "90" "2171" "0" "2171" "0" "c.2171del" "r.(?)" "p.(Asn724Thrfs*91)" "12" "0000790382" "00023832" "90" "2548" "0" "2548" "0" "c.2548del" "r.(?)" "p.(Glu850Lysfs*239)" "12" "0000790383" "00023832" "90" "3027" "0" "3028" "0" "c.3027_3028del" "r.(=)" "p.(=)" "12" "0000790384" "00023832" "90" "2323" "0" "2324" "0" "c.2323_2324delAG" "r.(?)" "p.(Arg775Glufs*59)" "12" "0000790385" "00023832" "90" "2148" "0" "2149" "0" "c.2148_2149ins356" "r.(?)" "p.?" "12" "0000790386" "00023832" "90" "2548" "0" "2667" "0" "c.2548_2667delinsAGGGAGAA" "r.(=)" "p.(=)" "12" "0000790404" "00023832" "70" "1202" "0" "1206" "0" "c.1202_1206del" "r.(?)" "p.(Val401AlafsTer50)" "" "0000790441" "00023832" "70" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Trp31Ter)" "" "0000790442" "00023832" "70" "3178" "0" "3179" "0" "c.3178_3179del" "r.(?)" "g.38145076_38145077del" "" "0000790464" "00023832" "50" "905" "0" "905" "0" "c.905G>C" "r.(?)" "p.(Cys302Ser)" "" "0000790554" "00023832" "50" "1709" "0" "1709" "0" "c.1709C>T" "r.(?)" "p.(Thr570Met)" "" "0000790580" "00023832" "50" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Thr51=)" "" "0000790676" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000790677" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000790684" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000790685" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000790877" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(=)" "12" "0000790878" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(=)" "12" "0000790879" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(=)" "12" "0000790880" "00023832" "70" "2403" "0" "2406" "0" "c.2403_2406del" "r.(=)" "p.(=)" "12" "0000791131" "00023832" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Thr129Phefs*5)" "5" "0000791132" "00023832" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Thr129Phefs*5)" "5" "0000791133" "00023832" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Thr129Phefs*5)" "5" "0000791134" "00023832" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Thr129Phefs*5)" "5" "0000791135" "00023832" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Thr129Phefs*5)" "5" "0000791136" "00023832" "90" "385" "0" "386" "0" "c.385_386del" "r.(?)" "p.(Thr129Phefs*5)" "5" "0000791179" "00023832" "70" "632" "0" "632" "0" "c.632T>G" "r.(?)" "p.(Leu211Arg)" "7" "0000791180" "00023832" "70" "632" "0" "632" "0" "c.632T>G" "r.(?)" "p.(Leu211Arg)" "7" "0000791181" "00023832" "70" "632" "0" "632" "0" "c.632T>G" "r.(?)" "p.(Leu211Arg)" "7" "0000791189" "00023832" "90" "1245" "1" "1245" "1" "c.1245+1G>A" "r.spl" "p.(?)" "10i" "0000791190" "00023832" "90" "1245" "1" "1245" "1" "c.1245+1G>A" "r.spl" "p.(?)" "10i" "0000791191" "00023832" "90" "1245" "1" "1245" "1" "c.1245+1G>A" "r.spl" "p.(?)" "10i" "0000791195" "00023832" "90" "3142" "0" "3143" "0" "c.3142_3143dup" "r.spl" "p.(Glu1049Argfs*41)" "15" "0000791196" "00023832" "90" "3142" "0" "3143" "0" "c.3142_3143dup" "r.spl" "p.(Glu1049Argfs*41)" "15" "0000791197" "00023832" "90" "3142" "0" "3143" "0" "c.3142_3143dup" "r.spl" "p.(Glu1049Argfs*41)" "15" "0000791198" "00023832" "90" "3142" "0" "3143" "0" "c.3142_3143dup" "r.spl" "p.(Glu1049Argfs*41)" "15" "0000791213" "00023832" "70" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "2" "0000791214" "00023832" "70" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "2" "0000791215" "00023832" "70" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "2" "0000791545" "00023832" "70" "485" "0" "486" "0" "c.485_486del" "r.(?)" "p.(Phe162Tyrfs*4)" "6" "0000791546" "00023832" "70" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Ile297Lysfs*48)" "8" "0000791547" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000791548" "00023832" "70" "2296" "0" "2299" "0" "c.2296_2299del" "r.(?)" "p.(Gly766Asnfs*48)" "15" "0000791576" "00023832" "70" "977" "0" "977" "0" "c.977A>C" "r.(?)" "p.(Lys326Thr)" "9" "0000791917" "00023832" "70" "2212" "0" "2212" "0" "c.2212G>T" "r.(?)" "p.(Gly738*)" "12" "0000791918" "00023832" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "3" "0000792252" "00023832" "90" "248" "-2" "248" "-2" "c.248-2A>G" "r.spl?" "p.?" "3i" "0000792325" "00023832" "90" "3317" "-1565" "3317" "-1564" "c.3317-1565_3317-1564insA" "r.spl?" "p.?" "11i" "0000792326" "00023832" "90" "3333" "1580" "3333" "1581" "c.3333+1580_3333+1581delTA" "r.spl?" "p.?" "13" "0000792347" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000792347" "00000592" "70" "1905" "500" "1905" "501" "c.1905+500_1905+501del" "r.(?)" "p.(=)" "" "0000792361" "00023832" "70" "2779" "0" "2779" "0" "c.2779del" "r.(?)" "p.(Glu927Lysfs*162)" "" "0000792361" "00000592" "70" "1905" "874" "1905" "874" "c.1905+874del" "r.(=)" "p.(=)" "" "0000793687" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(=)" "12" "0000793688" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(=)" "12" "0000793689" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(=)" "12" "0000793820" "00023832" "70" "3027" "0" "3028" "0" "c.3027_3028del" "r.(=)" "p.(=)" "12" "0000793821" "00023832" "70" "2476" "0" "2477" "0" "c.2476_2477del" "r.(=)" "p.(=)" "12" "0000793822" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(=)" "12" "0000793823" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(=)" "12" "0000793824" "00023832" "70" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Ser637Asn)" "12" "0000793825" "00023832" "70" "1685" "0" "1686" "0" "c.1685_1686del" "r.(=)" "p.(=)" "12" "0000793826" "00023832" "70" "1630" "0" "1630" "0" "c.1630A>G" "r.(=)" "p.(=)" "12" "0000793827" "00023832" "70" "431" "0" "431" "0" "c.431A>G" "r.(?)" "p.(Gln144Arg)" "5" "0000793828" "00023832" "70" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Gln118*)" "5" "0000793829" "00023832" "70" "122" "0" "122" "0" "c.122C>G" "r.(?)" "p.(Ser41*)" "2" "0000793904" "00023832" "90" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "10" "0000793908" "00023832" "70" "28" "5" "28" "5" "c.28+5G>A" "r.spl?" "p.?" "1i" "0000793921" "00023832" "70" "310" "1" "310" "1" "c.310+1G>T" "r.spl?" "p.?" "" "0000793921" "00000592" "70" "310" "1" "310" "1" "c.310+1G>T" "r.spl?" "p.?" "" "0000793948" "00023832" "70" "2625" "0" "2625" "0" "c.2625dup" "r.(=)" "p.(Gly876Argfs*203)" "12" "0000793964" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "12" "0000793970" "00023832" "70" "1928" "0" "1928" "0" "c.1928C>G" "r.(?)" "p.(Ser643*)" "12" "0000794042" "00023832" "70" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Gly173Asp)" "" "0000794042" "00000592" "70" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Gly173Asp)" "" "0000794108" "00023832" "70" "2961" "0" "2968" "0" "c.2961_2968dup" "r.(?)" "p.(Gly990Glufs*102)" "" "0000794108" "00000592" "70" "1905" "1056" "1905" "1063" "c.1905+1056_1905+1063dup" "r.(?)" "p.(=)" "" "0000794119" "00023832" "70" "2937" "0" "2938" "0" "c.2937_2938del" "r.(?)" "p.(Glu980Glyfs*98)" "" "0000794119" "00000592" "70" "1905" "1032" "1905" "1033" "c.1905+1032_1905+1033del" "r.(=)" "p.(=)" "" "0000794149" "00023832" "70" "154" "4" "154" "4" "c.154+4A>G" "r.spl?" "p.(?)" "" "0000794150" "00023832" "70" "1832" "0" "1832" "0" "c.1832A>G" "r.(?)" "p.(Glu611Gly)" "" "0000794381" "00023832" "90" "310" "3" "310" "3" "c.310+3A>G" "r.spl" "p.?" "4i" "0000794382" "00023832" "90" "2218" "0" "2218" "0" "c.2218G>T" "r.(?)" "p.(Glu740*)" "15" "0000794383" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "15" "0000794384" "00023832" "90" "29" "-2" "29" "-2" "c.29-2A>T" "r.spl" "p.?" "1i" "0000794385" "00023832" "90" "2695" "0" "2695" "0" "c.2695G>T" "r.(?)" "p.(Glu899*)" "15" "0000794386" "00023832" "90" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Gln467*)" "13" "0000794387" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000794388" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15" "0000794389" "00023832" "70" "1754" "-3" "1754" "-3" "c.1754-3C>G" "r.spl" "p.?" "14i" "0000794390" "00023832" "70" "1754" "-3" "1754" "-3" "c.1754-3C>G" "r.spl" "p.?" "14i" "0000794391" "00023832" "90" "2964" "0" "2965" "0" "c.2964_2965del" "r.(?)" "p.(Glu989Glyfs*89)" "15" "0000794392" "00023832" "90" "373" "0" "373" "0" "c.373G>T" "r.(?)" "p.(Glu125*)" "5" "0000794393" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "15" "0000794394" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000794758" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000794758" "00000592" "70" "1905" "331" "1905" "332" "c.1905+331_1905+332del" "r.(=)" "p.(=)" "" "0000794776" "00023832" "70" "2293" "0" "2293" "0" "c.2293G>T" "r.(?)" "p.(Glu765*)" "" "0000794776" "00000592" "70" "1905" "388" "1905" "388" "c.1905+388G>T" "r.(=)" "p.(=)" "" "0000794835" "00023832" "70" "2232" "0" "2235" "0" "c.2232_2235del" "r.(?)" "p.(Asp744Glufs*70)" "" "0000794836" "00023832" "70" "2232" "0" "2235" "0" "c.2232_2235del" "r.(?)" "p.(Asp744Glufs*70)" "" "0000794837" "00023832" "70" "2232" "0" "2235" "0" "c.2232_2235del" "r.(?)" "p.(Asp744Glufs*70)" "" "0000795688" "00023832" "90" "247" "2" "247" "2" "c.247+2T>C" "r.spl" "p.(?)" "4i" "0000795874" "00023832" "90" "28" "2" "28" "2" "c.28+2T>G" "r.spl?" "p.?" "" "0000795875" "00023832" "90" "154" "0" "154" "0" "c.154G>T" "r.(?)" "p.(Gly52*)" "2" "0000795876" "00023832" "90" "155" "-2" "155" "-2" "c.155-2A>G" "r.spl?" "p.?" "2i" "0000795877" "00023832" "90" "173" "0" "175" "0" "c.173_175delinsG" "r.(?)" "p.(Met58Serfs*4)" "3" "0000795878" "00023832" "90" "460" "0" "460" "0" "c.460G>C" "r.(?)" "p.(Ala154Pro)" "5" "0000795879" "00023832" "90" "469" "2" "469" "2" "c.469+2T>A" "r.spl?" "p.?" "5i" "0000795880" "00023832" "90" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Glu290Glyfs*8)" "8" "0000795881" "00023832" "90" "934" "1" "934" "1" "c.934+1G>A" "r.spl?" "p.?" "8i" "0000795882" "00023832" "90" "1216" "0" "1217" "0" "c.1216_1217del" "r.(?)" "p.(Leu406Ilefs*46)" "10" "0000795883" "00023832" "90" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449*)" "11" "0000795884" "00023832" "90" "1348" "0" "1348" "0" "c.1348T>C" "r.(?)" "p.(Cys450Arg)" "11" "0000795885" "00023832" "90" "1699" "0" "1699" "0" "c.1699A>T" "r.(?)" "p.(Ile567Phe)" "12" "0000795886" "00023832" "90" "2088" "0" "2088" "0" "c.2088del" "r.(?)" "p.(Ala697Glnfs*118)" "12" "0000795887" "00023832" "90" "2227" "0" "2227" "0" "c.2227G>T" "r.(?)" "p.(Gly743*)" "12" "0000795888" "00023832" "90" "2234" "0" "2237" "0" "c.2234_2237del" "r.(?)" "p.(Arg745Lysfs*69)" "12" "0000795889" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "12" "0000795890" "00023832" "90" "2296" "0" "2299" "0" "c.2296_2299del" "r.(?)" "p.(Gly766Asnfs*48)" "12" "0000795891" "00023832" "90" "2384" "0" "2384" "0" "c.2384del" "r.(?)" "p.(Glu795Glyfs*20)" "12" "0000795892" "00023832" "90" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "12" "0000795893" "00023832" "90" "2509" "0" "2509" "0" "c.2509G>T" "r.(?)" "p.(Glu837*)" "12" "0000795894" "00023832" "90" "2614" "0" "2614" "0" "c.2614G>T" "r.(?)" "p.(Glu872*)" "12" "0000795895" "00023832" "90" "2703" "0" "2703" "0" "c.2703del" "r.(?)" "p.(Glu903Argfs*186)" "12" "0000795896" "00023832" "90" "2893" "0" "2893" "0" "c.2893G>T" "r.(?)" "p.(Glu965*)" "12" "0000795897" "00023832" "90" "2965" "0" "2965" "0" "c.2965G>T" "r.(?)" "p.(Glu989*)" "12" "0000795898" "00023832" "90" "3308" "0" "3309" "0" "c.3308_3309del" "r.(?)" "p.(Tyr1103Serfs*7)" "12" "0000795899" "00023832" "90" "2625" "0" "2625" "0" "c.2625dup" "r.(?)" "p.(Gly876Argfs*203)" "12" "0000795902" "00023832" "90" "2212" "0" "2212" "0" "c.2212G>T" "r.(?)" "p.(Gly738*)" "12" "0000795903" "00023832" "90" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Ile289Val)" "8" "0000795904" "00023832" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "3" "0000795905" "00023832" "90" "3106" "0" "3106" "0" "c.3106del" "r.(=)" "p.(Glu1036Lysfs*53)" "12" "0000795906" "00023832" "90" "2517" "0" "2518" "0" "c.2517_2518del" "r.(=)" "p.(Glu841Glyfs*237)" "12" "0000795907" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000795908" "00023832" "90" "1573" "-8" "1573" "-8" "c.1573-8A>G" "r.(?)" "p.?" "11i" "0000795909" "00023832" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "3" "0000795910" "00023832" "90" "934" "1" "934" "1" "c.934+1G>T" "r.spl?" "p.?" "" "0000795911" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000795912" "00023832" "90" "2218" "0" "2218" "0" "c.2218G>T" "r.(?)" "p.(Glu740*)" "12" "0000795913" "00023832" "90" "297" "0" "306" "0" "c.297_306del" "r.(?)" "p.(Leu100Glnfs*30)" "4" "0000795914" "00023832" "90" "2340" "0" "2340" "0" "c.2340del" "r.(=)" "p.(Ala781Argfs*34)" "12" "0000795915" "00023832" "90" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000795916" "00023832" "90" "2442" "0" "2445" "0" "c.2442_2445del" "r.(=)" "p.(Gly817Lysfs*2)" "12" "0000795917" "00023832" "90" "1636" "0" "1636" "0" "c.1636G>T" "r.(?)" "p.(Glu546*)" "12" "0000795918" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000795919" "00023832" "90" "2763" "0" "2764" "0" "c.2763_2764del" "r.(=)" "p.(Glu922Glyfs*156)" "12" "0000795920" "00023832" "90" "2188" "0" "2188" "0" "c.2188G>T" "r.(?)" "p.(Gly730*)" "12" "0000795950" "00023832" "90" "2038" "0" "2041" "0" "c.2038_2041del" "r.(?)" "p.(Asp680Argfs*16)" "12" "0000796277" "00023832" "90" "248" "-1" "248" "-1" "c.248-1G>T" "r.spl?" "p.?" "3i" "0000796641" "00023832" "70" "292" "0" "292" "0" "c.292C>G" "r.(?)" "p.(His98Asp)" "" "0000796799" "00023832" "90" "1853" "0" "1856" "0" "c.1853_1856dup" "r.(=)" "p.(=)" "12" "0000796827" "00023832" "90" "1544" "0" "1544" "0" "c.1544T>G" "r.(?)" "p.(Leu515*)" "12" "0000796871" "00023832" "90" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000796886" "00023832" "90" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Gln720*)" "12" "0000796887" "00023832" "90" "2359" "0" "2359" "0" "c.2359G>T" "r.(?)" "p.(Gly787*)" "12" "0000796889" "00023832" "90" "1375" "0" "1376" "0" "c.1375_1376del" "r.(?)" "p.(Val459Leufs*3)" "11" "0000796976" "00023832" "90" "360" "0" "360" "0" "c.360dup" "r.(?)" "p.(Leu121Alafs*3)" "5" "0000796977" "00023832" "70" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "10" "0000796978" "00023832" "70" "1507" "-27" "2729" "0" "c.1507-27_2729delinsN[103]" "r.(?)" "p.?" "11i_12" "0000796979" "00023832" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "3" "0000796980" "00023832" "70" "2309" "0" "2309" "0" "c.2309del" "r.(=)" "p.(=)" "12" "0000796981" "00023832" "70" "2323" "0" "2324" "0" "c.2323_2324del" "r.(=)" "p.(=)" "12" "0000796982" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(=)" "12" "0000797125" "00023832" "70" "29" "-1" "29" "-1" "c.29-1G>T" "r.spl" "p.(?)" "1i" "0000797126" "00023832" "70" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "15" "0000797127" "00023832" "70" "2452" "0" "2452" "0" "c.2452G>T" "r.(?)" "p.(Glu818*)" "15" "0000797128" "00023832" "70" "2706" "0" "2707" "0" "c.2706_2707del" "r.(?)" "p.(Glu903Glyfs*175)" "15" "0000797129" "00023832" "70" "917" "0" "917" "0" "c.917A>C" "r.(?)" "p.(His306Pro)" "8" "0000797130" "00023832" "70" "2630" "0" "2630" "0" "c.2630del" "r.(?)" "p.(Glu877Glyfs*212)" "15" "0000797131" "00023832" "70" "1006" "0" "1006" "0" "c.1006A>T" "r.(?)" "p.(Asn336Tyr)" "9" "0000797132" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "15" "0000797133" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000797134" "00023832" "70" "3034" "0" "3034" "0" "c.3034del" "r.(?)" "p.(Glu1012Lysfs*77)" "15" "0000797135" "00023832" "90" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Gly65Val)" "3" "0000797136" "00023832" "90" "2313" "0" "2314" "0" "c.2313_2314delinsC" "r.(?)" "p.(Glu771Aspfs*44)" "15" "0000797534" "00023832" "70" "2596" "0" "2596" "0" "c.2596del" "r.(?)" "p.(Glu866Lysfs*223)" "" "0000797824" "00023832" "70" "1731" "0" "1731" "0" "c.1731dup" "r.(?)" "p.(Ala578Serfs*5)" "" "0000797825" "00023832" "70" "1236" "0" "1239" "0" "c.1236_1239del" "r.(?)" "p.(Glu414Glyfs*10)" "" "0000797826" "00023832" "70" "1573" "-3" "1573" "-3" "c.1573-3C>G" "r.spl?" "p.(?)" "" "0000797827" "00023832" "90" "248" "-2" "248" "-2" "c.248-2A>G" "r.spl" "p.(?)" "" "0000797828" "00023832" "70" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000797829" "00023832" "70" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000797830" "00023832" "90" "28" "1" "28" "1" "c.28+1G>C" "r.spl" "p.(?)" "" "0000797831" "00023832" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "" "0000797832" "00023832" "70" "155" "-1" "155" "-1" "c.155-1G>A" "r.spl" "p.(?)" "" "0000797833" "00023832" "70" "1573" "-3" "1573" "-3" "c.1573-3C>G" "r.spl?" "p.(?)" "" "0000797834" "00023832" "70" "1236" "0" "1239" "0" "c.1236_1239del" "r.(?)" "p.(Glu414Glyfs*10)" "" "0000797835" "00023832" "70" "1179" "0" "1179" "0" "c.1179T>G" "r.(?)" "p.(Tyr393*)" "" "0000797836" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "" "0000797837" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000797838" "00023832" "70" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753Lysfs*61)" "" "0000797924" "00023832" "70" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000798080" "00023832" "70" "492" "0" "492" "0" "c.492G>T" "r.(?)" "p.(Trp164Cys)" "" "0000798169" "00023832" "50" "2606" "0" "2606" "0" "c.2606A>G" "r.(?)" "p.(Glu869Gly)" "" "0000798434" "00023832" "70" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Ile75Val)" "3" "0000810335" "00023832" "30" "19249" "0" "19249" "0" "c.*15790T>C" "r.(=)" "p.(=)" "" "0000810335" "00000592" "30" "2324" "0" "2324" "0" "c.2324T>C" "r.(?)" "p.(Ile775Thr)" "" "0000810336" "00023832" "10" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Val1144Ile)" "" "0000810336" "00000592" "10" "1905" "1525" "1905" "1525" "c.1905+1525G>A" "r.(=)" "p.(=)" "" "0000810337" "00023832" "10" "3396" "0" "3396" "0" "c.3396C>T" "r.(?)" "p.(Asn1132=)" "" "0000810337" "00000592" "10" "1905" "1491" "1905" "1491" "c.1905+1491C>T" "r.(=)" "p.(=)" "" "0000810338" "00023832" "90" "3317" "0" "3317" "0" "c.3317del" "r.(?)" "p.(Lys1106Serfs*25)" "" "0000810338" "00000592" "90" "1905" "1412" "1905" "1412" "c.1905+1412del" "r.(=)" "p.(=)" "" "0000810339" "00023832" "90" "3150" "0" "3151" "0" "c.3150_3151del" "r.(?)" "p.(Glu1051ArgfsTer27)" "" "0000810339" "00000592" "90" "1905" "1245" "1905" "1246" "c.1905+1245_1905+1246del" "r.(=)" "p.(=)" "" "0000810340" "00023832" "30" "2898" "0" "2898" "0" "c.2898G>A" "r.(?)" "p.(Gly966=)" "" "0000810340" "00000592" "30" "1905" "993" "1905" "993" "c.1905+993G>A" "r.(=)" "p.(=)" "" "0000810341" "00023832" "10" "2841" "0" "2841" "0" "c.2841G>A" "r.(?)" "p.(Glu947=)" "" "0000810341" "00000592" "10" "1905" "936" "1905" "936" "c.1905+936G>A" "r.(=)" "p.(=)" "" "0000810342" "00023832" "10" "2667" "0" "2669" "0" "c.2667_2669del" "r.(?)" "p.(Glu890del)" "" "0000810342" "00000592" "10" "1905" "762" "1905" "764" "c.1905+762_1905+764del" "r.(=)" "p.(=)" "" "0000810343" "00023832" "10" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Ala781Thr)" "" "0000810343" "00000592" "10" "1905" "436" "1905" "436" "c.1905+436G>A" "r.(=)" "p.(=)" "" "0000810344" "00023832" "50" "1628" "0" "1628" "0" "c.1628A>T" "r.(?)" "p.(Asp543Val)" "" "0000810344" "00000592" "50" "1628" "0" "1628" "0" "c.1628A>T" "r.(?)" "p.(Asp543Val)" "" "0000810345" "00023832" "30" "1608" "0" "1608" "0" "c.1608A>T" "r.(?)" "p.(Thr536=)" "" "0000810345" "00000592" "30" "1608" "0" "1608" "0" "c.1608A>T" "r.(?)" "p.(Thr536=)" "" "0000810346" "00023832" "30" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000810346" "00000592" "30" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000810347" "00023832" "10" "1245" "16" "1245" "16" "c.1245+16A>G" "r.(=)" "p.(=)" "" "0000810347" "00000592" "10" "1245" "16" "1245" "16" "c.1245+16A>G" "r.(=)" "p.(=)" "" "0000810348" "00023832" "10" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Ala388=)" "" "0000810348" "00000592" "10" "1164" "0" "1164" "0" "c.1164G>A" "r.(?)" "p.(Ala388=)" "" "0000810349" "00023832" "10" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "" "0000810349" "00000592" "10" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Asn345Asp)" "" "0000810350" "00023832" "50" "68" "0" "68" "0" "c.68C>A" "r.(?)" "p.(Ala23Asp)" "" "0000810350" "00000592" "50" "68" "0" "68" "0" "c.68C>A" "r.(?)" "p.(Ala23Asp)" "" "0000811911" "00023832" "70" "2146" "0" "2146" "0" "c.2146G>T" "r.(?)" "p.(Glu716*)" "" "0000811912" "00023832" "70" "3050" "0" "3051" "0" "c.3050_3051del" "r.(?)" "p.(Glu1017Glyfs*61)" "" "0000811913" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000811914" "00023832" "70" "1059" "6" "1059" "6" "c.1059+6G>A" "r.spl?" "p.(?)" "" "0000812548" "00023832" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Gln118*)" "" "0000812623" "00023832" "90" "473" "0" "473" "0" "c.473del" "r.(?)" "p.(Asp158Valfs*17)" "" "0000812657" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000812749" "00023832" "90" "532" "0" "532" "0" "c.532dup" "r.(?)" "p.(Ser178Lysfs*2)" "" "0000812807" "00023832" "50" "3123" "0" "3125" "0" "c.3123_3125del" "r.(?)" "p.(Glu1042del)" "" "0000812848" "00023832" "50" "1071" "0" "1073" "0" "c.1071_1073del" "r.(?)" "p.(Gly358del)" "" "0000813011" "00023832" "70" "2272" "0" "2272" "0" "c.2272G>T" "r.(?)" "p.(Glu758*)" "" "0000813662" "00023832" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "" "0000813662" "00000592" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "" "0000813682" "00023832" "90" "1573" "-2" "1573" "-2" "c.1573-2A>G" "r.spl" "p.(?)" "" "0000813682" "00000592" "90" "1573" "-2" "1573" "-2" "c.1573-2A>G" "r.spl?" "p.?" "" "0000813684" "00023832" "90" "778" "2" "778" "2" "c.778+2T>C" "r.spl" "p.(?)" "" "0000813684" "00000592" "90" "778" "2" "778" "2" "c.778+2T>C" "r.spl?" "p.?" "" "0000814285" "00023832" "70" "2592" "0" "2592" "0" "c.2592dup" "r.(?)" "p.(Gly865Argfs*214)" "15" "0000814285" "00000592" "70" "1905" "686" "1905" "686" "c.1905+686dup" "r.(=)" "p.(=)" "" "0000814286" "00023832" "70" "2032" "0" "2032" "0" "c.2032G>T" "r.(?)" "p.(Glu678*)" "15" "0000814286" "00000592" "70" "1905" "127" "1905" "127" "c.1905+127G>T" "r.(=)" "p.(=)" "" "0000814287" "00023832" "70" "1282" "0" "1282" "0" "c.1282C>G" "r.(?)" "p.(Leu428Val)" "" "0000814287" "00000592" "70" "1282" "0" "1282" "0" "c.1282C>G" "r.(?)" "p.(Leu428Val)" "11" "0000814791" "00023832" "70" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Trp669*)" "15" "0000814791" "00000592" "70" "1905" "101" "1905" "101" "c.1905+101G>A" "r.(=)" "p.(=)" "" "0000814792" "00023832" "70" "2293" "0" "2293" "0" "c.2293del" "r.(?)" "p.(Glu765Argfs*50)" "15" "0000814792" "00000592" "70" "1905" "387" "1905" "387" "c.1905+387del" "r.(=)" "p.(=)" "" "0000814793" "00023832" "70" "818" "0" "818" "0" "c.818A>G" "r.(?)" "p.(Gln273Arg)" "8" "0000814793" "00000592" "70" "818" "0" "818" "0" "c.818A>G" "r.(?)" "p.(Gln273Arg)" "" "0000814908" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000814908" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000814909" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000814909" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000814910" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000814910" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000814911" "00023832" "70" "2194" "0" "2194" "0" "c.2194del" "r.(?)" "p.(Glu732Argfs*83)" "15" "0000814911" "00000592" "70" "1905" "286" "1905" "286" "c.1905+286del" "r.(=)" "p.(=)" "" "0000814912" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "15" "0000814912" "00000592" "70" "1905" "519" "1905" "520" "c.1905+519_1905+520del" "r.(=)" "p.(=)" "" "0000814913" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "15" "0000814913" "00000592" "70" "1905" "519" "1905" "520" "c.1905+519_1905+520del" "r.(=)" "p.(=)" "" "0000814914" "00023832" "70" "3027" "0" "3028" "0" "c.3027_3028del" "r.(?)" "p.(Glu1010Glyfs*68)" "15" "0000814914" "00000592" "70" "1905" "1120" "1905" "1121" "c.1905+1120_1905+1121del" "r.(=)" "p.(=)" "" "0000814915" "00023832" "70" "2467" "0" "2477" "0" "c.2467_2477del" "r.(?)" "p.(Lys823Glyfs*8)" "15" "0000814915" "00000592" "70" "1905" "561" "1905" "571" "c.1905+561_1905+571del" "r.(=)" "p.(=)" "" "0000814916" "00023832" "70" "2474" "0" "2477" "0" "c.2474_2477del" "r.(?)" "p.(Glu825Glyfs*263)" "15" "0000814916" "00000592" "70" "1905" "566" "1905" "569" "c.1905+566_1905+569del" "r.(=)" "p.(=)" "" "0000814917" "00023832" "70" "2752" "0" "2752" "0" "c.2752G>T" "r.(?)" "p.(Glu918*)" "15" "0000814917" "00000592" "70" "1905" "847" "1905" "847" "c.1905+847G>T" "r.(=)" "p.(=)" "" "0000814918" "00023832" "70" "3070" "0" "3070" "0" "c.3070G>T" "r.(?)" "p.(Glu1024*)" "15" "0000814918" "00000592" "70" "1905" "1165" "1905" "1165" "c.1905+1165G>T" "r.(=)" "p.(=)" "" "0000814919" "00023832" "70" "3070" "0" "3070" "0" "c.3070G>T" "r.(?)" "p.(Glu1024*)" "15" "0000814919" "00000592" "70" "1905" "1165" "1905" "1165" "c.1905+1165G>T" "r.(=)" "p.(=)" "" "0000814920" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000814920" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000814921" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000814921" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000814922" "00023832" "70" "2501" "0" "2502" "0" "c.2501_2502del" "r.(?)" "p.(Glu834Glyfs*244)" "15" "0000814922" "00000592" "70" "1905" "595" "1905" "596" "c.1905+595_1905+596del" "r.(=)" "p.(=)" "" "0000815295" "00023832" "90" "2296" "0" "2299" "0" "c.2296_2299del" "r.(?)" "p.(Gly766Asnfs*48)" "" "0000815295" "00000592" "90" "1905" "387" "1905" "390" "c.1905+387_1905+390del" "r.(=)" "p.(=)" "" "0000815296" "00023832" "90" "2296" "0" "2299" "0" "c.2296_2299del" "r.(?)" "p.(Gly766Asnfs*48)" "" "0000815296" "00000592" "90" "1905" "387" "1905" "390" "c.1905+387_1905+390del" "r.(=)" "p.(=)" "" "0000815297" "00023832" "90" "2296" "0" "2299" "0" "c.2296_2299del" "r.(?)" "p.(Gly766Asnfs*48)" "" "0000815297" "00000592" "90" "1905" "387" "1905" "390" "c.1905+387_1905+390del" "r.(=)" "p.(=)" "" "0000815298" "00023832" "90" "2296" "0" "2299" "0" "c.2296_2299del" "r.(?)" "p.(Gly766Asnfs*48)" "" "0000815298" "00000592" "90" "1905" "387" "1905" "390" "c.1905+387_1905+390del" "r.(=)" "p.(=)" "" "0000815316" "00023832" "90" "914" "0" "914" "0" "c.914dup" "r.(?)" "p.(Asn305Lysfs*41)" "" "0000815316" "00000592" "90" "911" "0" "911" "0" "c.911dup" "r.(?)" "p.(Asn305Lysfs*41)" "" "0000815332" "00023832" "90" "2746" "0" "2746" "0" "c.2746del" "r.(?)" "p.(Glu916Lysfs*173)" "" "0000815332" "00000592" "90" "1905" "840" "1905" "840" "c.1905+840del" "r.(=)" "p.(=)" "" "0000815333" "00023832" "90" "2746" "0" "2746" "0" "c.2746del" "r.(?)" "p.(Glu916Lysfs*173)" "" "0000815333" "00000592" "90" "1905" "840" "1905" "840" "c.1905+840del" "r.(=)" "p.(=)" "" "0000815380" "00023832" "90" "2357" "0" "2375" "0" "c.2357_2375del" "r.(?)" "p.(Lys786Thrfs*23)" "" "0000815380" "00000592" "90" "1905" "446" "1905" "464" "c.1905+446_1905+464del" "r.(=)" "p.(=)" "" "0000815381" "00023832" "90" "2357" "0" "2375" "0" "c.2357_2375del" "r.(?)" "p.(Lys786Thrfs*23)" "" "0000815381" "00000592" "90" "1905" "446" "1905" "464" "c.1905+446_1905+464del" "r.(=)" "p.(=)" "" "0000815397" "00023832" "90" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "" "0000815397" "00000592" "90" "1905" "537" "1905" "540" "c.1905+537_1905+540del" "r.(=)" "p.(=)" "" "0000815398" "00023832" "90" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "" "0000815398" "00000592" "90" "1905" "537" "1905" "540" "c.1905+537_1905+540del" "r.(=)" "p.(=)" "" "0000815399" "00023832" "90" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "" "0000815399" "00000592" "90" "1905" "537" "1905" "540" "c.1905+537_1905+540del" "r.(=)" "p.(=)" "" "0000815406" "00023832" "90" "1506" "1" "1506" "1" "c.1506+1G>A" "r.spl" "p.(?)" "" "0000815406" "00000592" "90" "1506" "1" "1506" "1" "c.1506+1G>A" "r.spl?" "p.?" "" "0000815407" "00023832" "90" "1506" "1" "1506" "1" "c.1506+1G>A" "r.spl" "p.(?)" "" "0000815407" "00000592" "90" "1506" "1" "1506" "1" "c.1506+1G>A" "r.spl?" "p.?" "" "0000815408" "00023832" "90" "1506" "1" "1506" "1" "c.1506+1G>A" "r.spl" "p.(?)" "" "0000815408" "00000592" "90" "1506" "1" "1506" "1" "c.1506+1G>A" "r.spl?" "p.?" "" "0000815409" "00023832" "90" "1506" "1" "1506" "1" "c.1506+1G>A" "r.spl" "p.(?)" "" "0000815409" "00000592" "90" "1506" "1" "1506" "1" "c.1506+1G>A" "r.spl?" "p.?" "" "0000815566" "00023832" "90" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "" "0000815566" "00000592" "90" "1905" "537" "1905" "540" "c.1905+537_1905+540del" "r.(=)" "p.(=)" "" "0000815929" "00023832" "90" "2323" "0" "2324" "0" "c.2323_2324del" "r.(?)" "p.(Arg775Glufs*59)" "" "0000815930" "00023832" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "" "0000815936" "00023832" "70" "1573" "-1" "1573" "-1" "c.1573-1G>A" "r.spl" "p.(?)" "" "0000815938" "00023832" "70" "934" "1" "934" "1" "c.934+1G>T" "r.spl" "p.(?)" "" "0000815941" "00023832" "70" "1753" "257" "20086" "0" "c.1753+257_*16627del" "r.spl" "p.(?)" "" "0000815976" "00023832" "70" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "" "0000815977" "00023832" "90" "2252" "0" "2255" "0" "c.2252_2255del" "r.(?)" "p.(Lys751Argfs*63)" "" "0000815983" "00023832" "90" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033Argfs*45)" "" "0000815984" "00023832" "70" "122" "0" "122" "0" "c.122C>A" "r.(?)" "p.(Ser41*)" "" "0000815993" "00023832" "70" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Glu290Glyfs*8)" "" "0000816011" "00023832" "70" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Glu374*)" "" "0000816023" "00023832" "50" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Glu)" "" "0000816036" "00023832" "70" "778" "5" "778" "5" "c.778+5G>A" "r.spl?" "p.(?)" "" "0000816045" "00023832" "70" "635" "0" "636" "0" "c.635_636del" "r.(?)" "p.(Tyr212Cysfs*6)" "" "0000816173" "00023832" "50" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Cys302Tyr)" "" "0000816188" "00023832" "90" "2257" "0" "2260" "0" "c.2257_2260del" "r.(?)" "p.(Gly753Lysfs*61)" "" "0000816204" "00023832" "50" "619" "3" "619" "3" "c.619+3A>T" "r.spl?" "p.(?)" "" "0000816208" "00023832" "70" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Ser284*)" "" "0000816219" "00023832" "70" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Glu374*)" "" "0000816220" "00023832" "70" "619" "1" "619" "1" "c.619+1G>C" "r.spl" "p.(?)" "" "0000816235" "00023832" "50" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Arg)" "" "0000816818" "00023832" "70" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Arg)" "" "0000816818" "00000592" "70" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Arg)" "" "0000816819" "00023832" "70" "2194" "0" "2194" "0" "c.2194del" "r.(?)" "p.(Glu732Argfs*83)" "" "0000816819" "00000592" "70" "1905" "286" "1905" "286" "c.1905+286del" "r.(=)" "p.(=)" "" "0000816820" "00023832" "70" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Gly436Asp)" "" "0000816820" "00000592" "70" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.(Gly436Asp)" "" "0000816821" "00023832" "70" "454" "0" "454" "0" "c.454T>C" "r.(?)" "p.(Ser152Pro)" "" "0000816821" "00000592" "70" "454" "0" "454" "0" "c.454T>C" "r.(?)" "p.(Ser152Pro)" "" "0000816822" "00023832" "70" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Glu859Argfs*230)" "" "0000816822" "00000592" "70" "1905" "664" "1905" "664" "c.1905+664del" "r.(=)" "p.(=)" "" "0000816823" "00023832" "70" "1059" "0" "1059" "2" "c.1059_1059+2del" "r.(?)" "p.(?)" "" "0000816823" "00000592" "70" "1058" "0" "1059" "1" "c.1058_1059+1del" "r.spl?" "p.?" "" "0000816824" "00023832" "70" "3027" "0" "3028" "0" "c.3027_3028del" "r.(?)" "p.(Glu1010Glyfs*68)" "" "0000816824" "00000592" "70" "1905" "1120" "1905" "1121" "c.1905+1120_1905+1121del" "r.(=)" "p.(=)" "" "0000816825" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "" "0000816825" "00000592" "70" "1905" "519" "1905" "520" "c.1905+519_1905+520del" "r.(=)" "p.(=)" "" "0000816826" "00023832" "70" "2966" "0" "2966" "0" "c.2966del" "r.(?)" "p.(Glu989Glyfs*100)" "" "0000816826" "00000592" "70" "1905" "1061" "1905" "1061" "c.1905+1061del" "r.(=)" "p.(=)" "" "0000816827" "00023832" "70" "2155" "0" "2155" "0" "c.2155del" "r.(?)" "p.(His719Ilefs*96)" "" "0000816827" "00000592" "70" "1905" "249" "1905" "249" "c.1905+249del" "r.(=)" "p.(=)" "" "0000816828" "00023832" "70" "2323" "0" "2324" "0" "c.2323_2324del" "r.(?)" "p.(Arg775Glufs*59)" "" "0000816828" "00000592" "70" "1905" "413" "1905" "414" "c.1905+413_1905+414del" "r.(=)" "p.(=)" "" "0000817327" "00023832" "70" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Cys302Tyr)" "8" "0000817626" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746ArgfsTer23)" "" "0000817626" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000817639" "00023832" "70" "2452" "0" "2452" "0" "c.2452G>T" "r.(?)" "p.(Glu818Ter)" "" "0000817639" "00000592" "70" "1905" "547" "1905" "547" "c.1905+547G>T" "r.(=)" "p.(=)" "" "0000817693" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809GlyfsTer25)" "" "0000817693" "00000592" "70" "1905" "519" "1905" "520" "c.1905+519_1905+520del" "r.(=)" "p.(=)" "" "0000817694" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809GlyfsTer25)" "" "0000817694" "00000592" "70" "1905" "519" "1905" "520" "c.1905+519_1905+520del" "r.(=)" "p.(=)" "" "0000817695" "00023832" "70" "2431" "0" "2431" "0" "c.2431G>T" "r.(?)" "p.(Gly811Ter)" "" "0000817695" "00000592" "70" "1905" "526" "1905" "526" "c.1905+526G>T" "r.(=)" "p.(=)" "" "0000819065" "00023832" "70" "2284" "0" "2284" "0" "c.2284delG" "r.(?)" "p.(Glu762Lysfs*53)" "" "0000819065" "00000592" "70" "1905" "376" "1905" "376" "c.1905+376del" "r.(=)" "p.(=)" "" "0000819309" "00023832" "70" "1872" "0" "1873" "0" "c.1872_1873del" "r.(?)" "p.(Glu624Aspfs*5)" "" "0000819309" "00000592" "70" "1869" "0" "1870" "0" "c.1869_1870del" "r.(?)" "p.(Glu624Aspfs*5)" "" "0000819352" "00023832" "70" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826Glyfs*8)" "" "0000819352" "00000592" "70" "1905" "566" "1905" "567" "c.1905+566_1905+567del" "r.(=)" "p.(=)" "" "0000819407" "00023832" "70" "154" "1" "154" "1" "c.154+1G>A" "r.spl" "p.(?)" "" "0000819407" "00000592" "70" "154" "1" "154" "1" "c.154+1G>A" "r.spl?" "p.?" "" "0000819408" "00023832" "70" "154" "1" "154" "1" "c.154+1G>A" "r.spl" "p.(?)" "" "0000819408" "00000592" "70" "154" "1" "154" "1" "c.154+1G>A" "r.spl?" "p.?" "" "0000819409" "00023832" "70" "154" "1" "154" "1" "c.154+1G>A" "r.spl" "p.(?)" "" "0000819409" "00000592" "70" "154" "1" "154" "1" "c.154+1G>A" "r.spl?" "p.?" "" "0000819416" "00023832" "70" "2384" "0" "2384" "0" "c.2384del" "r.(?)" "p.(Glu795Glyfs*20)" "" "0000819416" "00000592" "70" "1905" "479" "1905" "479" "c.1905+479del" "r.(=)" "p.(=)" "" "0000819464" "00023832" "70" "3077" "0" "3080" "0" "c.3077_3080del" "r.(?)" "p.(Glu1026Glyfs*62)" "" "0000819464" "00000592" "70" "1905" "1170" "1905" "1173" "c.1905+1170_1905+1173del" "r.(=)" "p.(=)" "" "0000819465" "00023832" "70" "3077" "0" "3080" "0" "c.3077_3080del" "r.(?)" "p.(Glu1026Glyfs*62)" "" "0000819465" "00000592" "70" "1905" "1170" "1905" "1173" "c.1905+1170_1905+1173del" "r.(=)" "p.(=)" "" "0000819466" "00023832" "70" "3077" "0" "3080" "0" "c.3077_3080del" "r.(?)" "p.(Glu1026Glyfs*62)" "" "0000819466" "00000592" "70" "1905" "1170" "1905" "1173" "c.1905+1170_1905+1173del" "r.(=)" "p.(=)" "" "0000819506" "00023832" "70" "2321" "0" "2348" "0" "c.2321_2348del" "r.(?)" "p.(Glu774Glyfs*32)" "" "0000819506" "00000592" "70" "1905" "416" "1905" "443" "c.1905+416_1905+443del" "r.(=)" "p.(=)" "" "0000819556" "00023832" "70" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Leu100Pro)" "" "0000819556" "00000592" "70" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Leu100Pro)" "" "0000819559" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000819559" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000819575" "00023832" "70" "2403" "0" "2406" "0" "c.2403_2406del" "r.(?)" "p.(Glu802Glyfs*12)" "" "0000819575" "00000592" "70" "1905" "498" "1905" "501" "c.1905+498_1905+501del" "r.(=)" "p.(=)" "" "0000819584" "00023832" "70" "2543" "0" "2543" "0" "c.2543del" "r.(?)" "p.(Glu848Glyfs*241)" "" "0000819584" "00000592" "70" "1905" "638" "1905" "638" "c.1905+638del" "r.(=)" "p.(=)" "" "0000819585" "00023832" "70" "2543" "0" "2543" "0" "c.2543del" "r.(?)" "p.(Glu848Glyfs*241)" "" "0000819585" "00000592" "70" "1905" "638" "1905" "638" "c.1905+638del" "r.(=)" "p.(=)" "" "0000819595" "00023832" "70" "2944" "0" "2944" "0" "c.2944del" "r.(?)" "p.(Glu982Lysfs*107)" "" "0000819595" "00000592" "70" "1905" "1035" "1905" "1035" "c.1905+1035del" "r.(=)" "p.(=)" "" "0000819596" "00023832" "70" "2944" "0" "2944" "0" "c.2944del" "r.(?)" "p.(Glu982Lysfs*107)" "" "0000819596" "00000592" "70" "1905" "1035" "1905" "1035" "c.1905+1035del" "r.(=)" "p.(=)" "" "0000819600" "00023832" "70" "2007" "0" "2007" "0" "c.2007G>A" "r.(?)" "p.(Trp669*)" "" "0000819600" "00000592" "70" "1905" "102" "1905" "102" "c.1905+102G>A" "r.(=)" "p.(=)" "" "0000819603" "00023832" "70" "2792" "0" "2792" "0" "c.2792del" "r.(?)" "p.(Glu931Glyfs*158)" "" "0000819603" "00000592" "70" "1905" "887" "1905" "887" "c.1905+887del" "r.(=)" "p.(=)" "" "0000819607" "00023832" "70" "2590" "0" "2590" "0" "c.2590G>T" "r.(?)" "p.(Glu864*)" "" "0000819607" "00000592" "70" "1905" "685" "1905" "685" "c.1905+685G>T" "r.(=)" "p.(=)" "" "0000819613" "00023832" "70" "247" "0" "247" "0" "c.247G>T" "r.(?)" "p.(Ala83Ser)" "" "0000819613" "00000592" "70" "247" "0" "247" "0" "c.247G>T" "r.(?)" "p.(Ala83Ser)" "" "0000819618" "00023832" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl" "p.(?)" "" "0000819618" "00000592" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl?" "p.?" "" "0000819619" "00023832" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl" "p.(?)" "" "0000819619" "00000592" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl?" "p.?" "" "0000819620" "00023832" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl" "p.(?)" "" "0000819620" "00000592" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl?" "p.?" "" "0000819621" "00023832" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl" "p.(?)" "" "0000819621" "00000592" "70" "310" "1" "310" "1" "c.310+1G>A" "r.spl?" "p.?" "" "0000819627" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000819627" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000819628" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000819628" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000819634" "00023832" "70" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Val38Tyrfs*30)" "" "0000819634" "00000592" "70" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Val38Tyrfs*30)" "" "0000819635" "00023832" "70" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Val38Tyrfs*30)" "" "0000819635" "00000592" "70" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Val38Tyrfs*30)" "" "0000819638" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "" "0000819638" "00000592" "70" "1905" "519" "1905" "520" "c.1905+519_1905+520del" "r.(=)" "p.(=)" "" "0000819641" "00023832" "70" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "" "0000819641" "00000592" "70" "1905" "1187" "1905" "1187" "c.1905+1187del" "r.(=)" "p.(=)" "" "0000819643" "00023832" "70" "2467" "0" "2467" "0" "c.2467A>T" "r.(?)" "p.(Lys823*)" "" "0000819643" "00000592" "70" "1905" "562" "1905" "562" "c.1905+562A>T" "r.(=)" "p.(=)" "" "0000819651" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000819651" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000819652" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000819652" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000819656" "00023832" "70" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Phe130Ser)" "" "0000819656" "00000592" "70" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Phe130Ser)" "" "0000819661" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000819661" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000819662" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000819662" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000819666" "00023832" "70" "1217" "0" "1217" "0" "c.1217dup" "r.(?)" "p.(Ser407Ilefs*46)" "" "0000819666" "00000592" "70" "1217" "0" "1217" "0" "c.1217dup" "r.(?)" "p.(Ser407Ilefs*46)" "" "0000819670" "00023832" "70" "2543" "0" "2543" "0" "c.2543del" "r.(?)" "p.(Glu848Glyfs*241)" "" "0000819670" "00000592" "70" "1905" "638" "1905" "638" "c.1905+638del" "r.(=)" "p.(=)" "" "0000819677" "00023832" "70" "296" "0" "296" "0" "c.296C>A" "r.(?)" "p.(Thr99Asn)" "" "0000819677" "00000592" "70" "296" "0" "296" "0" "c.296C>A" "r.(?)" "p.(Thr99Asn)" "" "0000819688" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000819688" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000819698" "00023832" "70" "2548" "0" "2548" "0" "c.2548del" "r.(?)" "p.(Glu850Lysfs*239)" "" "0000819698" "00000592" "70" "1905" "639" "1905" "639" "c.1905+639del" "r.(=)" "p.(=)" "" "0000819699" "00023832" "70" "2548" "0" "2548" "0" "c.2548del" "r.(?)" "p.(Glu850Lysfs*239)" "" "0000819699" "00000592" "70" "1905" "639" "1905" "639" "c.1905+639del" "r.(=)" "p.(=)" "" "0000819700" "00023832" "70" "2548" "0" "2548" "0" "c.2548del" "r.(?)" "p.(Glu850Lysfs*239)" "" "0000819700" "00000592" "70" "1905" "639" "1905" "639" "c.1905+639del" "r.(=)" "p.(=)" "" "0000819701" "00023832" "70" "2548" "0" "2548" "0" "c.2548del" "r.(?)" "p.(Glu850Lysfs*239)" "" "0000819701" "00000592" "70" "1905" "639" "1905" "639" "c.1905+639del" "r.(=)" "p.(=)" "" "0000819707" "00023832" "70" "2916" "0" "2917" "0" "c.2916_2917del" "r.(?)" "p.(Glu973Argfs*105)" "" "0000819707" "00000592" "70" "1905" "1009" "1905" "1010" "c.1905+1009_1905+1010del" "r.(=)" "p.(=)" "" "0000819710" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000819710" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000819714" "00023832" "70" "154" "1" "154" "1" "c.154+1G>A" "r.spl" "p.(?)" "" "0000819714" "00000592" "70" "154" "1" "154" "1" "c.154+1G>A" "r.spl?" "p.?" "" "0000819718" "00023832" "70" "3027" "0" "3028" "0" "c.3027_3028del" "r.(?)" "p.(Glu1010Glyfs*68)" "" "0000819718" "00000592" "70" "1905" "1120" "1905" "1121" "c.1905+1120_1905+1121del" "r.(=)" "p.(=)" "" "0000819719" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000819719" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000819720" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000819720" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000819728" "00023832" "70" "2234" "0" "2237" "0" "c.2234_2237del" "r.(?)" "p.(Arg745Lysfs*69)" "" "0000819728" "00000592" "70" "1905" "328" "1905" "331" "c.1905+328_1905+331del" "r.(=)" "p.(=)" "" "0000819729" "00023832" "70" "2234" "0" "2237" "0" "c.2234_2237del" "r.(?)" "p.(Arg745Lysfs*69)" "" "0000819729" "00000592" "70" "1905" "328" "1905" "331" "c.1905+328_1905+331del" "r.(=)" "p.(=)" "" "0000819734" "00023832" "70" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931Glyfs*147)" "" "0000819734" "00000592" "70" "1905" "883" "1905" "884" "c.1905+883_1905+884del" "r.(=)" "p.(=)" "" "0000819737" "00023832" "70" "2447" "0" "2447" "0" "c.2447del" "r.(?)" "p.(Gly816Glufs*4)" "" "0000819737" "00000592" "70" "1905" "540" "1905" "540" "c.1905+540del" "r.(=)" "p.(=)" "" "0000819738" "00023832" "70" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "" "0000819738" "00000592" "70" "1905" "537" "1905" "540" "c.1905+537_1905+540del" "r.(=)" "p.(=)" "" "0000819744" "00023832" "70" "2461" "0" "2461" "0" "c.2461G>T" "r.(?)" "p.(Glu821*)" "" "0000819744" "00000592" "70" "1905" "556" "1905" "556" "c.1905+556G>T" "r.(=)" "p.(=)" "" "0000819746" "00023832" "70" "2845" "0" "2845" "0" "c.2845del" "r.(?)" "p.(Glu949Lysfs*140)" "" "0000819746" "00000592" "70" "1905" "936" "1905" "936" "c.1905+936del" "r.(=)" "p.(=)" "" "0000819747" "00023832" "70" "2384" "0" "2384" "0" "c.2384del" "r.(?)" "p.(Glu795Glyfs*20)" "" "0000819747" "00000592" "70" "1905" "479" "1905" "479" "c.1905+479del" "r.(=)" "p.(=)" "" "0000819749" "00023832" "70" "2730" "0" "2731" "0" "c.2730_2731del" "r.(?)" "p.(Glu911Glyfs*167)" "" "0000819749" "00000592" "70" "1905" "823" "1905" "824" "c.1905+823_1905+824del" "r.(=)" "p.(=)" "" "0000819750" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000819750" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000819751" "00023832" "70" "2601" "0" "2602" "0" "c.2601_2602del" "r.(?)" "p.(Glu868Glyfs*210)" "" "0000819751" "00000592" "70" "1905" "694" "1905" "695" "c.1905+694_1905+695del" "r.(=)" "p.(=)" "" "0000819754" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819754" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819755" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819755" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819758" "00023832" "70" "907" "0" "907" "0" "c.907G>T" "r.(?)" "p.(Gly303*)" "" "0000819758" "00000592" "70" "907" "0" "907" "0" "c.907G>T" "r.(?)" "p.(Gly303*)" "" "0000819759" "00023832" "70" "907" "0" "907" "0" "c.907G>T" "r.(?)" "p.(Gly303*)" "" "0000819759" "00000592" "70" "907" "0" "907" "0" "c.907G>T" "r.(?)" "p.(Gly303*)" "" "0000819762" "00023832" "70" "2501" "0" "2501" "0" "c.2501del" "r.(?)" "p.(Glu834Glyfs*255)" "" "0000819762" "00000592" "70" "1905" "596" "1905" "596" "c.1905+596del" "r.(=)" "p.(=)" "" "0000819763" "00023832" "70" "2501" "0" "2501" "0" "c.2501del" "r.(?)" "p.(Glu834Glyfs*255)" "" "0000819763" "00000592" "70" "1905" "596" "1905" "596" "c.1905+596del" "r.(=)" "p.(=)" "" "0000819764" "00023832" "70" "2501" "0" "2501" "0" "c.2501del" "r.(?)" "p.(Glu834Glyfs*255)" "" "0000819764" "00000592" "70" "1905" "596" "1905" "596" "c.1905+596del" "r.(=)" "p.(=)" "" "0000819770" "00023832" "70" "2735" "0" "2735" "0" "c.2735del" "r.(?)" "p.(Gly912Glufs*177)" "" "0000819770" "00000592" "70" "1905" "828" "1905" "828" "c.1905+828del" "r.(=)" "p.(=)" "" "0000819771" "00023832" "70" "2735" "0" "2735" "0" "c.2735del" "r.(?)" "p.(Gly912Glufs*177)" "" "0000819771" "00000592" "70" "1905" "828" "1905" "828" "c.1905+828del" "r.(=)" "p.(=)" "" "0000819774" "00023832" "70" "935" "-1" "935" "-1" "c.935-1G>T" "r.spl" "p.(?)" "" "0000819774" "00000592" "70" "935" "-1" "935" "-1" "c.935-1G>T" "r.spl?" "p.?" "" "0000819775" "00023832" "70" "935" "-1" "935" "-1" "c.935-1G>T" "r.spl" "p.(?)" "" "0000819775" "00000592" "70" "935" "-1" "935" "-1" "c.935-1G>T" "r.spl?" "p.?" "" "0000819777" "00023832" "70" "2038" "0" "2056" "0" "c.2038_2056del" "r.(?)" "p.(Asp680Trpfs*11)" "" "0000819777" "00000592" "70" "1905" "126" "1905" "144" "c.1905+126_1905+144del" "r.(=)" "p.(=)" "" "0000819779" "00023832" "70" "2410" "0" "2410" "0" "c.2410A>T" "r.(?)" "p.(Arg804*)" "" "0000819779" "00000592" "70" "1905" "505" "1905" "505" "c.1905+505A>T" "r.(=)" "p.(=)" "" "0000819788" "00023832" "70" "2346" "0" "2346" "0" "c.2346del" "r.(?)" "p.(Lys783Argfs*32)" "" "0000819788" "00000592" "70" "1905" "438" "1905" "438" "c.1905+438del" "r.(=)" "p.(=)" "" "0000819791" "00023832" "70" "980" "0" "980" "0" "c.980T>G" "r.(?)" "p.(Leu327*)" "" "0000819791" "00000592" "70" "980" "0" "980" "0" "c.980T>G" "r.(?)" "p.(Leu327*)" "" "0000819792" "00023832" "70" "3049" "0" "3049" "0" "c.3049G>T" "r.(?)" "p.(Glu1017*)" "" "0000819792" "00000592" "70" "1905" "1144" "1905" "1144" "c.1905+1144G>T" "r.(=)" "p.(=)" "" "0000819797" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000819797" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000819803" "00023832" "70" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Gln1125*)" "" "0000819803" "00000592" "70" "1905" "1468" "1905" "1468" "c.1905+1468C>T" "r.(=)" "p.(=)" "" "0000819807" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819807" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819808" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819808" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819809" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819809" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819810" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819810" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819811" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819811" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819812" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819812" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819813" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723Glufs*92)" "" "0000819813" "00000592" "70" "1905" "260" "1905" "260" "c.1905+260del" "r.(=)" "p.(=)" "" "0000819814" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000819814" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000819815" "00023832" "70" "3178" "0" "3179" "0" "c.3178_3179del" "r.(?)" "p.(Glu1060Argfs*18)" "" "0000819815" "00000592" "70" "1905" "1270" "1905" "1271" "c.1905+1270_1905+1271del" "r.(=)" "p.(=)" "" "0000819816" "00023832" "70" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Arg127Gly)" "" "0000819816" "00000592" "70" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Arg127Gly)" "" "0000819818" "00023832" "70" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Glu45*)" "" "0000819818" "00000592" "70" "133" "0" "133" "0" "c.133G>T" "r.(?)" "p.(Glu45*)" "" "0000819820" "00023832" "70" "2605" "0" "2605" "0" "c.2605G>T" "r.(?)" "p.(Glu869*)" "" "0000819820" "00000592" "70" "1905" "700" "1905" "700" "c.1905+700G>T" "r.(=)" "p.(=)" "" "0000819822" "00023832" "70" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931Glyfs*147)" "" "0000819822" "00000592" "70" "1905" "883" "1905" "884" "c.1905+883_1905+884del" "r.(=)" "p.(=)" "" "0000819825" "00023832" "70" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826Glyfs*8)" "" "0000819825" "00000592" "70" "1905" "566" "1905" "567" "c.1905+566_1905+567del" "r.(=)" "p.(=)" "" "0000819827" "00023832" "70" "1966" "0" "1966" "0" "c.1966dup" "r.(?)" "p.(Asp656Glyfs*5)" "" "0000819827" "00000592" "70" "1905" "58" "1905" "58" "c.1905+58dup" "r.(=)" "p.(=)" "" "0000819828" "00023832" "70" "1966" "0" "1966" "0" "c.1966dup" "r.(?)" "p.(Asp656Glyfs*5)" "" "0000819828" "00000592" "70" "1905" "58" "1905" "58" "c.1905+58dup" "r.(=)" "p.(=)" "" "0000819829" "00023832" "70" "2059" "0" "2059" "0" "c.2059dup" "r.(?)" "p.(Glu687Glyfs*83)" "" "0000819829" "00000592" "70" "1905" "153" "1905" "153" "c.1905+153dup" "r.(=)" "p.(=)" "" "0000819830" "00023832" "70" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826Glyfs*8)" "" "0000819830" "00000592" "70" "1905" "566" "1905" "567" "c.1905+566_1905+567del" "r.(=)" "p.(=)" "" "0000819831" "00023832" "70" "2416" "0" "2416" "0" "c.2416G>T" "r.(?)" "p.(Glu806*)" "" "0000819831" "00000592" "70" "1905" "511" "1905" "511" "c.1905+511G>T" "r.(=)" "p.(=)" "" "0000819833" "00023832" "70" "2845" "0" "2845" "0" "c.2845del" "r.(?)" "p.(Glu949Lysfs*140)" "" "0000819833" "00000592" "70" "1905" "936" "1905" "936" "c.1905+936del" "r.(=)" "p.(=)" "" "0000819841" "00023832" "70" "2083" "0" "2083" "0" "c.2083G>T" "r.(?)" "p.(Glu695*)" "" "0000819841" "00000592" "70" "1905" "178" "1905" "178" "c.1905+178G>T" "r.(=)" "p.(=)" "" "0000819842" "00023832" "70" "29" "-1" "29" "-1" "c.29-1G>T" "r.spl" "p.(?)" "" "0000819842" "00000592" "70" "29" "-1" "29" "-1" "c.29-1G>T" "r.spl?" "p.?" "" "0000819850" "00023832" "70" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931Glyfs*147)" "" "0000819850" "00000592" "70" "1905" "883" "1905" "884" "c.1905+883_1905+884del" "r.(=)" "p.(=)" "" "0000819855" "00023832" "70" "2143" "0" "2144" "0" "c.2143_2144del" "r.(?)" "p.(Arg715Glyfs*54)" "" "0000819855" "00000592" "70" "1905" "235" "1905" "236" "c.1905+235_1905+236del" "r.(=)" "p.(=)" "" "0000819865" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000819865" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000819869" "00023832" "70" "2527" "0" "2527" "0" "c.2527dup" "r.(?)" "p.(Glu843Glyfs*236)" "" "0000819869" "00000592" "70" "1905" "618" "1905" "618" "c.1905+618dup" "r.(=)" "p.(=)" "" "0000819872" "00023832" "70" "2899" "0" "2899" "0" "c.2899dup" "r.(?)" "p.(Glu967Glyfs*112)" "" "0000819872" "00000592" "70" "1905" "990" "1905" "990" "c.1905+990dup" "r.(=)" "p.(=)" "" "0000819874" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000819874" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000819875" "00023832" "70" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Arg)" "" "0000819875" "00000592" "70" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Gly198Arg)" "" "0000819877" "00023832" "70" "1754" "-15" "1754" "-5" "c.1754-15_1754-5del" "r.spl" "p.(?)" "" "0000819877" "00000592" "70" "1754" "-15" "1754" "-5" "c.1754-15_1754-5del" "r.spl?" "p.?" "" "0000819881" "00023832" "70" "602" "0" "602" "0" "c.602A>T" "r.(?)" "p.(His201Leu)" "" "0000819881" "00000592" "70" "602" "0" "602" "0" "c.602A>T" "r.(?)" "p.(His201Leu)" "" "0000819883" "00023832" "70" "2887" "0" "2887" "0" "c.2887del" "r.(?)" "p.(Glu963Lysfs*126)" "" "0000819883" "00000592" "70" "1905" "982" "1905" "982" "c.1905+982del" "r.(=)" "p.(=)" "" "0000819887" "00023832" "70" "2689" "0" "2689" "0" "c.2689G>T" "r.(?)" "p.(Glu897*)" "" "0000819887" "00000592" "70" "1905" "784" "1905" "784" "c.1905+784G>T" "r.(=)" "p.(=)" "" "0000819896" "00023832" "70" "2123" "0" "2123" "0" "c.2123A>G" "r.(?)" "p.(Glu708Gly)" "" "0000819896" "00000592" "70" "1905" "218" "1905" "218" "c.1905+218A>G" "r.(=)" "p.(=)" "" "0000819898" "00023832" "70" "3104" "0" "3105" "0" "c.3104_3105del" "r.(?)" "p.(Glu1035Glyfs*43)" "" "0000819898" "00000592" "70" "1905" "1196" "1905" "1197" "c.1905+1196_1905+1197del" "r.(=)" "p.(=)" "" "0000819906" "00023832" "70" "2622" "0" "3056" "0" "c.2622_3056del" "r.(?)" "p.(Gly876_Glu1020del)" "" "0000819906" "00000592" "70" "1905" "709" "1905" "1143" "c.1905+709_1905+1143del" "r.(=)" "p.(=)" "" "0000819909" "00023832" "70" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Gln1125*)" "" "0000819909" "00000592" "70" "1905" "1468" "1905" "1468" "c.1905+1468C>T" "r.(=)" "p.(=)" "" "0000819914" "00023832" "70" "3175" "0" "3175" "0" "c.3175del" "r.(?)" "p.(Arg1059Glufs*30)" "" "0000819914" "00000592" "70" "1905" "1270" "1905" "1270" "c.1905+1270del" "r.(=)" "p.(=)" "" "0000819917" "00023832" "70" "2647" "0" "2647" "0" "c.2647G>T" "r.(?)" "p.(Gly883*)" "" "0000819917" "00000592" "70" "1905" "742" "1905" "742" "c.1905+742G>T" "r.(=)" "p.(=)" "" "0000819920" "00023832" "70" "255" "0" "255" "0" "c.255del" "r.(?)" "p.(Lys85Asnfs*5)" "" "0000819920" "00000592" "70" "252" "0" "252" "0" "c.252del" "r.(?)" "p.(Lys85Asnfs*5)" "" "0000819925" "00023832" "70" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Leu100Pro)" "" "0000819925" "00000592" "70" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Leu100Pro)" "" "0000819930" "00023832" "70" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Ile289Val)" "" "0000819930" "00000592" "70" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Ile289Val)" "" "0000821383" "00023832" "70" "633" "0" "633" "0" "c.633del" "r.(?)" "p.(Tyr212Metfs*11)" "" "0000821383" "00000592" "70" "633" "0" "633" "0" "c.633del" "r.(?)" "p.(Tyr212Metfs*11)" "" "0000821384" "00023832" "70" "3453" "0" "3453" "0" "c.3453G>T" "r.(?)" "p.(Leu1151Phe)" "" "0000821384" "00000592" "70" "1905" "1548" "1905" "1548" "c.1905+1548G>T" "r.(=)" "p.(=)" "" "0000821385" "00023832" "70" "779" "-3" "779" "-3" "c.779-3C>A" "r.spl" "p.(?)" "" "0000821385" "00000592" "70" "779" "-3" "779" "-3" "c.779-3C>A" "r.spl?" "p.?" "" "0000821386" "00023832" "70" "1894" "0" "1897" "0" "c.1894_1897del" "r.(?)" "p.(Asp632Lysfs*4)" "" "0000821386" "00000592" "70" "1891" "0" "1894" "0" "c.1891_1894del" "r.(?)" "p.(Asp632Lysfs*13)" "" "0000821387" "00023832" "70" "1393" "0" "1393" "0" "c.1393del" "r.(?)" "p.(Leu465Serfs*11)" "" "0000821387" "00000592" "70" "1392" "0" "1392" "0" "c.1392del" "r.(?)" "p.(Leu465Serfs*11)" "" "0000821388" "00023832" "70" "1237" "0" "1237" "0" "c.1237A>T" "r.(?)" "p.(Arg413*)" "" "0000821388" "00000592" "70" "1237" "0" "1237" "0" "c.1237A>T" "r.(?)" "p.(Arg413*)" "" "0000821389" "00023832" "90" "1372" "0" "1373" "0" "c.1372_1373del" "r.(?)" "p.(Ser458Cysfs*4)" "" "0000821389" "00000592" "90" "1368" "0" "1369" "0" "c.1368_1369del" "r.(?)" "p.(Ser458Cysfs*4)" "" "0000821390" "00023832" "70" "1429" "0" "1429" "0" "c.1429G>T" "r.(?)" "p.(Glu477*)" "" "0000821390" "00000592" "70" "1429" "0" "1429" "0" "c.1429G>T" "r.(?)" "p.(Glu477*)" "" "0000822147" "00023832" "90" "29" "0" "469" "0" "c.29_469del" "r.(?)" "p.(Asp10_Thr156del)" "2_5" "0000822148" "00023832" "90" "248" "0" "1414" "0" "c.248_1414del" "r.(?)" "p.(Ala83_Pro471del)" "4_11" "0000822213" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(=)" "p.(=)" "12" "0000822296" "00023832" "70" "2586" "0" "2587" "0" "c.2586_2587del" "r.(=)" "p.(=)" "12" "0000822297" "00023832" "70" "2008" "0" "2017" "0" "c.2008_2017del" "r.(=)" "p.(=)" "12" "0000822313" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(=)" "12" "0000822328" "00023832" "70" "2819" "0" "2838" "0" "c.2819_2838dup" "r.(=)" "p.(=)" "12" "0000822742" "00023832" "70" "2452" "0" "2452" "0" "c.2452G>T" "r.(?)" "p.(Glu818*)" "15" "0000822742" "00000592" "70" "1905" "547" "1905" "547" "c.1905+547G>T" "r.(=)" "p.(=)" "" "0000822743" "00023832" "70" "3458" "0" "3458" "0" "c.3458A>C" "r.(?)" "p.(*1153Serext*38)" "15" "0000822743" "00000592" "70" "1905" "1553" "1905" "1553" "c.1905+1553A>C" "r.(=)" "p.(=)" "" "0000822744" "00023832" "70" "29" "-1" "29" "-1" "c.29-1G>T" "r.spl" "p.(?)" "1i" "0000822744" "00000592" "70" "29" "-1" "29" "-1" "c.29-1G>T" "r.spl?" "p.?" "" "0000822768" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000822768" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000822776" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000822776" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000822778" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000822778" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000822784" "00023832" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Thr575fs)" "" "0000822808" "00023832" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly718fs)" "" "0000822824" "00023832" "70" "28" "5" "28" "5" "c.28+5G>A" "r.spl?" "p.(?)" "" "0000822824" "00000592" "70" "28" "5" "28" "5" "c.28+5G>A" "r.spl?" "p.?" "" "0000823214" "00023832" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Gln184*)" "" "0000823214" "00000592" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Gln184*)" "" "0000823215" "00023832" "90" "597" "0" "597" "0" "c.597T>G" "r.(?)" "p.(Tyr199*)" "" "0000823215" "00000592" "90" "597" "0" "597" "0" "c.597T>G" "r.(?)" "p.(Tyr199*)" "" "0000823216" "00023832" "50" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.(?)" "" "0000823216" "00000592" "50" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "" "0000823217" "00023832" "50" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.(?)" "" "0000823217" "00000592" "50" "619" "5" "619" "5" "c.619+5G>A" "r.spl?" "p.?" "" "0000823218" "00023832" "90" "1379" "0" "1379" "0" "c.1379del" "r.(?)" "p.(Leu460Tyrfs*16)" "" "0000823218" "00000592" "90" "1378" "0" "1378" "0" "c.1378del" "r.(?)" "p.(Leu460Tyrfs*16)" "" "0000823219" "00023832" "50" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000823219" "00000592" "50" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000824108" "00023832" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl" "p.?" "" "0000824108" "00000592" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl?" "p.?" "" "0000824109" "00023832" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl" "p.?" "" "0000824109" "00000592" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl?" "p.?" "" "0000824110" "00023832" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl" "p.?" "" "0000824110" "00000592" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl?" "p.?" "" "0000824146" "00023832" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl" "p.?" "" "0000824146" "00000592" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl?" "p.?" "" "0000824147" "00023832" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl" "p.?" "" "0000824147" "00000592" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl?" "p.?" "" "0000824148" "00023832" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl" "p.?" "" "0000824148" "00000592" "90" "247" "2" "247" "2" "c.247+2T>A" "r.spl?" "p.?" "" "0000824351" "00023832" "90" "1694" "0" "1695" "0" "c.1694_1695del" "r.(?)" "p.(Gln565Argfs*17)" "14" "0000824351" "00000592" "90" "1694" "0" "1695" "0" "c.1694_1695del" "r.(?)" "p.(Gln565Argfs*17)" "" "0000824402" "00023832" "90" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Gly95Glu)" "4" "0000824402" "00000592" "90" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Gly95Glu)" "" "0000824403" "00023832" "90" "904" "0" "904" "0" "c.904T>C" "r.(?)" "p.(Cys302Arg)" "8" "0000824403" "00000592" "90" "904" "0" "904" "0" "c.904T>C" "r.(?)" "p.(Cys302Arg)" "" "0000824408" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "15" "0000824408" "00000592" "90" "1905" "1187" "1905" "1187" "c.1905+1187del" "r.(=)" "p.(=)" "" "0000824700" "00023832" "50" "1076" "0" "1076" "0" "c.1076dup" "r.(?)" "p.(Cys359TrpfsTer18)" "" "0000824700" "00000592" "50" "1076" "0" "1076" "0" "c.1076dup" "r.(?)" "p.(Cys359Trpfs*18)" "" "0000824701" "00023832" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000824701" "00000592" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000825565" "00023832" "50" "2057" "0" "2057" "0" "c.2057T>A" "r.(?)" "p.(Met686Lys)" "" "0000825565" "00000592" "50" "1905" "152" "1905" "152" "c.1905+152T>A" "r.(=)" "p.(=)" "" "0000825566" "00023832" "50" "2057" "0" "2057" "0" "c.2057T>A" "r.(?)" "p.(Met686Lys)" "" "0000825566" "00000592" "50" "1905" "152" "1905" "152" "c.1905+152T>A" "r.(=)" "p.(=)" "" "0000825567" "00023832" "50" "946" "0" "946" "0" "c.946A>T" "r.(?)" "p.(Met316Leu)" "" "0000825567" "00000592" "50" "946" "0" "946" "0" "c.946A>T" "r.(?)" "p.(Met316Leu)" "" "0000825568" "00023832" "50" "2057" "0" "2057" "0" "c.2057T>A" "r.(?)" "p.(Met686Lys)" "" "0000825568" "00000592" "50" "1905" "152" "1905" "152" "c.1905+152T>A" "r.(=)" "p.(=)" "" "0000825569" "00023832" "50" "3151" "0" "3151" "0" "c.3151del" "r.(?)" "p.(Glu1051LysfsTer38)" "" "0000825569" "00000592" "50" "1905" "1242" "1905" "1242" "c.1905+1242del" "r.(=)" "p.(=)" "" "0000825570" "00023832" "50" "2057" "0" "2057" "0" "c.2057T>A" "r.(?)" "p.(Met686Lys)" "" "0000825570" "00000592" "50" "1905" "152" "1905" "152" "c.1905+152T>A" "r.(=)" "p.(=)" "" "0000825666" "00023832" "70" "607" "0" "607" "0" "c.607G>C" "r.(?)" "p.(Ala203Pro)" "6" "0000825674" "00023832" "70" "2402" "0" "2403" "0" "c.2402_2403del" "r.(=)" "p.(Thr801Argfs*33)" "12" "0000825681" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(=)" "p.(Glu809Glyfs*25)" "12" "0000825712" "00023832" "70" "310" "3" "310" "3" "c.310+3A>G" "r.spl?" "p.?" "4i" "0000825773" "00023832" "70" "29" "-2" "29" "-2" "c.29-2A>T" "r.spl?" "p.?" "1i" "0000825775" "00023832" "70" "3001" "0" "3001" "0" "c.3001G>T" "r.?" "p.(Glu1001*)" "12" "0000825776" "00023832" "70" "1541" "0" "1541" "0" "c.1541C>G" "r.?" "p.(Ser514*)" "12" "0000825784" "00023832" "70" "2695" "0" "2695" "0" "c.2695G>T" "r.(=)" "p.(Glu899*)" "12" "0000825792" "00023832" "70" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Gln467*)" "11" "0000825803" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000825816" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(Glu746Argfs*23)" "12" "0000825827" "00023832" "70" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449*)" "11" "0000825829" "00023832" "70" "2164" "0" "2168" "0" "c.2164_2168del" "r.(=)" "p.(Glu722Lysfs*46)" "12" "0000825867" "00023832" "70" "1754" "-3" "1754" "-3" "c.1754-3C>G" "r.(?)" "p.?" "11i" "0000825888" "00023832" "70" "373" "0" "373" "0" "c.373G>T" "r.(?)" "p.(Glu125*)" "5" "0000825931" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000825958" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000825986" "00023832" "70" "2442" "0" "2445" "0" "c.2442_2445del" "r.(=)" "p.(Gly817Lysfs*2)" "12" "0000825990" "00023832" "70" "2506" "0" "2506" "0" "c.2506G>T" "r.?" "p.(Glu836*)" "12" "0000825995" "00023832" "70" "1693" "0" "1694" "0" "c.1693_1694del" "r.(=)" "p.(Gln565Argfs*17)" "12" "0000826076" "00023832" "70" "2899" "0" "2899" "0" "c.2899dup" "r.(=)" "p.(Glu967Glyfs*112)" "12" "0000826096" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(Glu746Argfs*23)" "12" "0000826108" "00023832" "70" "2491" "0" "2491" "0" "c.2491G>T" "r.?" "p.(Glu831*)" "12" "0000826128" "00023832" "70" "2144" "0" "2145" "0" "c.2144_2145insCTGAG" "r.(=)" "p.(Arg715Serfs*2)" "12" "0000826135" "00023832" "70" "2236" "-2237" "2236" "-2237" "c.2236-2237delGA" "r.(?)" "p.?" "11i" "0000826138" "00023832" "70" "2701" "0" "2701" "0" "c.2701del" "r.(=)" "p.(Glu901Lysfs*188)" "12" "0000826143" "00023832" "70" "2275" "0" "2275" "0" "c.2275G>T" "r.(=)" "p.(Gly759*)" "12" "0000826156" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(Glu746Argfs*23)" "12" "0000826157" "00023832" "70" "2933" "0" "2937" "0" "c.2933_2937del" "r.(=)" "p.(Glu978Glyfs*99)" "12" "0000826171" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(Glu746Argfs*23)" "12" "0000826173" "00023832" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Asp)" "5" "0000826196" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000826200" "00023832" "70" "619" "2" "619" "2" "c.619+2T>A" "r.spl?" "p.?" "6i" "0000826248" "00023832" "70" "2173" "0" "2186" "0" "c.2173_2186del" "r.(=)" "p.(Gln725Glyfs*40)" "12" "0000826280" "00023832" "70" "2800" "0" "2800" "0" "c.2800G>T" "r.?" "p.(Glu934*)" "12" "0000826334" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000826343" "00023832" "70" "2506" "0" "2506" "0" "c.2506del" "r.(=)" "p.(Glu836Lysfs*253)" "12" "0000826346" "00023832" "70" "2730" "0" "2731" "0" "c.2730_2731del" "r.(=)" "p.(Glu911Glyfs*167)" "12" "0000826347" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000827577" "00023832" "90" "101" "0" "102" "0" "c.101_102insA" "r.(?)" "p.(Asn34Lysfs*2)" "2" "0000827578" "00023832" "90" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Arg)" "2" "0000827579" "00023832" "50" "299" "0" "299" "0" "c.299T>C" "r.(?)" "p.(Leu100Pro)" "4" "0000827580" "00023832" "90" "248" "-1" "248" "-1" "c.248-1G>C" "r.spl?" "p.?" "3i" "0000827581" "00023832" "70" "443" "0" "443" "0" "c.443G>T" "r.(?)" "p.(Gly148Val)" "5" "0000827582" "00023832" "90" "739" "0" "739" "0" "c.739delinsAA" "r.(?)" "p.(Gln247Lysfs*36)" "7" "0000827583" "00023832" "70" "752" "0" "752" "0" "c.752G>T" "r.(?)" "p.(Gly251Val)" "7" "0000827584" "00023832" "90" "934" "1" "934" "1" "c.934+1G>C" "r.spl?" "p.?" "8i" "0000827585" "00023832" "90" "1473" "0" "1477" "0" "c.1473_1477del" "r.(=)" "p.(=)" "12" "0000827586" "00023832" "70" "1967" "0" "1967" "0" "c.1967del" "r.(=)" "p.(=)" "12" "0000827587" "00023832" "90" "2023" "0" "2023" "0" "c.2023G>T" "r.(?)" "p.(Glu675*)" "12" "0000827588" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(=)" "12" "0000827589" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(=)" "12" "0000827590" "00023832" "90" "2257" "0" "2260" "0" "c.2257_2260del" "r.(=)" "p.(=)" "12" "0000827591" "00023832" "90" "2257" "0" "2260" "0" "c.2257_2260del" "r.(=)" "p.(=)" "12" "0000827592" "00023832" "70" "2311" "0" "2311" "0" "c.2311del" "r.(=)" "p.(=)" "12" "0000827593" "00023832" "70" "2311" "0" "2311" "0" "c.2311del" "r.(=)" "p.(=)" "12" "0000827594" "00023832" "90" "2340" "0" "2371" "0" "c.2340_2371dup" "r.(=)" "p.(=)" "12" "0000827595" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(=)" "12" "0000828550" "00023832" "70" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Arg127Gly)" "" "0000828550" "00000592" "70" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Arg127Gly)" "" "0000828840" "00023832" "90" "3160" "0" "3160" "0" "c.3160G>T" "r.(?)" "p.(Glu1054*)" "" "0000828840" "00000592" "90" "1905" "1255" "1905" "1255" "c.1905+1255G>T" "r.(=)" "p.(=)" "" "0000828854" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000828854" "00000592" "90" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000828855" "00023832" "90" "614" "0" "614" "0" "c.614dup" "r.(?)" "p.(Thr206Asnfs*5)" "" "0000828855" "00000592" "90" "614" "0" "614" "0" "c.614dup" "r.(?)" "p.(Thr206Asnfs*5)" "" "0000828883" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000828883" "00000592" "90" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000828884" "00023832" "70" "2237" "0" "2238" "0" "c.2237_2238del" "r.(?)" "p.(Glu746Glyfs*23)" "" "0000828884" "00000592" "70" "1905" "332" "1905" "333" "c.1905+332_1905+333del" "r.(=)" "p.(=)" "" "0000828895" "00023832" "90" "2425" "0" "2425" "0" "c.2425G>T" "r.(?)" "p.(Glu809*)" "" "0000828895" "00000592" "90" "1905" "520" "1905" "520" "c.1905+520G>T" "r.(=)" "p.(=)" "" "0000828920" "00023832" "70" "1991" "0" "1991" "0" "c.1991C>G" "r.(?)" "p.(Ser664*)" "" "0000828920" "00000592" "70" "1905" "86" "1905" "86" "c.1905+86C>G" "r.(=)" "p.(=)" "" "0000828928" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "" "0000828928" "00000592" "90" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000829044" "00023832" "70" "1239" "0" "1243" "0" "c.1239_1243del" "r.(?)" "p.(Glu414Glyfs*37)" "" "0000829044" "00000592" "70" "1239" "0" "1243" "0" "c.1239_1243del" "r.(?)" "p.(Glu414Glyfs*37)" "" "0000829045" "00023832" "70" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "" "0000829045" "00000592" "70" "1905" "1187" "1905" "1187" "c.1905+1187del" "r.(=)" "p.(=)" "" "0000829046" "00023832" "70" "485" "0" "486" "0" "c.485_486del" "r.(?)" "p.(Phe162Tyrfs*4)" "" "0000829046" "00000592" "70" "482" "0" "483" "0" "c.482_483del" "r.(?)" "p.(Phe162Tyrfs*4)" "" "0000829714" "00023832" "90" "1928" "0" "1928" "0" "c.1928C>G" "r.(?)" "p.(Ser643Ter)" "" "0000829799" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000829799" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000829854" "00023832" "90" "793" "0" "793" "0" "c.793dup" "r.(?)" "p.(Thr265Asnfs*18)" "8" "0000829855" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(Glu746Argfs*23)" "12" "0000829860" "00023832" "90" "1665" "0" "1665" "0" "c.1665del" "r.(=)" "p.(Ala558Hisfs*12)" "12" "0000829864" "00023832" "90" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Thr255Ile)" "7" "0000829897" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237del" "r.(=)" "p.(Glu746Argfs*23)" "12" "0000829932" "00023832" "90" "2350" "0" "2357" "0" "c.2350_2357dup" "r.(=)" "p.(Gly787Argfs*31)" "12" "0000829952" "00023832" "90" "2706" "0" "2707" "0" "c.2706_2707del" "r.(=)" "p.(Glu903Glyfs*175)" "12" "0000831090" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "" "0000831090" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000831091" "00023832" "70" "2260" "0" "2260" "0" "c.2260G>T" "r.(?)" "p.(Glu754*)" "" "0000831091" "00000592" "70" "1905" "355" "1905" "355" "c.1905+355G>T" "r.(=)" "p.(=)" "" "0000840245" "00023832" "30" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Ala388Val)" "10" "0000841521" "00023832" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000846777" "00023832" "70" "2236" "0" "2237" "0" "c.(2236_2237del)" "r.(?)" "p.(Glu746Argfs*23)" "" "0000846777" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000846778" "00023832" "70" "2403" "0" "2406" "0" "c.(2403_2406del)" "r.(?)" "p.(Glu802Glyfs*12)" "" "0000846778" "00000592" "70" "1905" "498" "1905" "501" "c.1905+498_1905+501del" "r.(=)" "p.(=)" "" "0000846779" "00023832" "70" "2236" "0" "2237" "0" "c.(2236_2237del)" "r.(?)" "p.(Glu746Argfs*23)" "" "0000846779" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000846780" "00023832" "70" "2227" "0" "2227" "0" "c.(2227G>T)" "r.(?)" "p.(Gly743*)" "" "0000846780" "00000592" "70" "1905" "322" "1905" "322" "c.1905+322G>T" "r.(=)" "p.(=)" "" "0000846781" "00023832" "70" "2614" "0" "2614" "0" "c.(2614G>T)" "r.(?)" "p.(Glu872*)" "" "0000846781" "00000592" "70" "1905" "709" "1905" "709" "c.1905+709G>T" "r.(=)" "p.(=)" "" "0000846782" "00023832" "70" "2743" "0" "2743" "0" "c.(2743G>T)" "r.(?)" "p.(Glu915*)" "" "0000846782" "00000592" "70" "1905" "838" "1905" "838" "c.1905+838G>T" "r.(=)" "p.(=)" "" "0000846783" "00023832" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly702fs)" "" "0000846784" "00023832" "70" "2403" "0" "2406" "0" "c.(2403_2406del)" "r.(?)" "p.(Glu802Glyfs*12)" "" "0000846784" "00000592" "70" "1905" "498" "1905" "501" "c.1905+498_1905+501del" "r.(=)" "p.(=)" "" "0000846785" "00023832" "70" "2403" "0" "2406" "0" "c.(2403_2406del)" "r.(?)" "p.(Glu802Glyfs*12)" "" "0000846785" "00000592" "70" "1905" "498" "1905" "501" "c.1905+498_1905+501del" "r.(=)" "p.(=)" "" "0000846786" "00023832" "70" "1377" "0" "1378" "0" "c.(1377_1378del)" "r.(?)" "p.(Leu460Ilefs*2)" "" "0000846786" "00000592" "70" "1376" "0" "1377" "0" "c.1376_1377del" "r.(?)" "p.(Leu460Ilefs*2)" "" "0000846787" "00023832" "70" "2867" "0" "2867" "0" "c.(2867delA)" "r.(?)" "p.(Glu956Glyfs*133)" "" "0000846787" "00000592" "70" "1905" "962" "1905" "962" "c.1905+962del" "r.(=)" "p.(=)" "" "0000846788" "00023832" "70" "2517" "0" "2518" "0" "c.(2517_2518delAG)" "r.(?)" "p.(Glu841Glyfs*237)" "" "0000846788" "00000592" "70" "1905" "612" "1905" "613" "c.1905+612_1905+613del" "r.(=)" "p.(=)" "" "0000846789" "00023832" "70" "2403" "0" "2406" "0" "c.(2403_2406del)" "r.(?)" "p.(Glu802Glyfs*12)" "" "0000846789" "00000592" "70" "1905" "498" "1905" "501" "c.1905+498_1905+501del" "r.(=)" "p.(=)" "" "0000846790" "00023832" "70" "2260" "0" "2260" "0" "c.(2260G>T)" "r.(?)" "p.(Glu754*)" "" "0000846790" "00000592" "70" "1905" "355" "1905" "355" "c.1905+355G>T" "r.(=)" "p.(=)" "" "0000846791" "00023832" "70" "2260" "0" "2260" "0" "c.(2260G>T)" "r.(?)" "p.(Glu754*)" "" "0000846791" "00000592" "70" "1905" "355" "1905" "355" "c.1905+355G>T" "r.(=)" "p.(=)" "" "0000846792" "00023832" "70" "1169" "0" "1169" "0" "c.(1169T>G)" "r.(?)" "p.(Met390Arg)" "" "0000846878" "00023832" "70" "2452" "0" "2452" "0" "c.2452del" "r.(?)" "p.(Glu818Lysfs*2)" "" "0000846878" "00000592" "70" "1905" "544" "1905" "544" "c.1905+544del" "r.(=)" "p.(=)" "" "0000846879" "00023832" "70" "2569" "0" "2569" "0" "c.2569delinsGG" "r.(?)" "p.(Lys857Glyfs*222)" "" "0000846879" "00000592" "70" "1905" "664" "1905" "664" "c.1905+664delinsGG" "r.(=)" "p.(=)" "" "0000846880" "00023832" "70" "2569" "0" "2569" "0" "c.2569delinsGG" "r.(?)" "p.(Lys857Glyfs*222)" "" "0000846880" "00000592" "70" "1905" "664" "1905" "664" "c.1905+664delinsGG" "r.(=)" "p.(=)" "" "0000846884" "00023832" "70" "334" "0" "334" "0" "c.334G>T" "r.(?)" "p.(Gly112Cys)" "" "0000846884" "00000592" "70" "334" "0" "334" "0" "c.334G>T" "r.(?)" "p.(Gly112Cys)" "" "0000856582" "00023832" "50" "19197" "0" "19197" "0" "c.*15738A>G" "r.(=)" "p.(=)" "" "0000856582" "00000592" "50" "2272" "0" "2272" "0" "c.2272A>G" "r.(?)" "p.(Asn758Asp)" "" "0000856583" "00023832" "10" "3060" "0" "3071" "0" "c.3060_3071del" "r.(?)" "p.(Val1025_Glu1028del)" "" "0000856583" "00000592" "10" "1905" "1155" "1905" "1166" "c.1905+1155_1905+1166del" "r.(=)" "p.(=)" "" "0000856584" "00023832" "10" "2820" "0" "2840" "0" "c.2820_2840dup" "r.(?)" "p.(Asp943_Glu949dup)" "" "0000856584" "00000592" "10" "1905" "915" "1905" "935" "c.1905+915_1905+935dup" "r.(=)" "p.(=)" "" "0000856585" "00023832" "30" "2594" "0" "2596" "0" "c.2594_2596del" "r.(?)" "p.(Gly865del)" "" "0000856585" "00000592" "30" "1905" "689" "1905" "691" "c.1905+689_1905+691del" "r.(=)" "p.(=)" "" "0000856586" "00023832" "50" "1493" "0" "1493" "0" "c.1493A>G" "r.(?)" "p.(Asp498Gly)" "" "0000856586" "00000592" "50" "1493" "0" "1493" "0" "c.1493A>G" "r.(?)" "p.(Asp498Gly)" "" "0000856587" "00023832" "30" "1245" "7" "1245" "7" "c.1245+7T>C" "r.(=)" "p.(=)" "" "0000856587" "00000592" "30" "1245" "7" "1245" "7" "c.1245+7T>C" "r.(=)" "p.(=)" "" "0000867342" "00023832" "90" "3315" "0" "3348" "0" "c.3315_3348dup" "r.(?)" "p.(Glu1117Lysfs*5)" "" "0000867342" "00000592" "90" "1905" "1410" "1905" "1443" "c.1905+1410_1905+1443dup" "r.(=)" "p.(=)" "" "0000867343" "00023832" "10" "2863" "0" "2863" "0" "c.2863T>G" "r.(?)" "p.(Trp955Gly)" "" "0000867343" "00000592" "10" "1905" "958" "1905" "958" "c.1905+958T>G" "r.(=)" "p.(=)" "" "0000867345" "00023832" "90" "2346" "0" "2346" "0" "c.2346del" "r.(?)" "p.(Lys783ArgfsTer32)" "" "0000867345" "00000592" "90" "1905" "441" "1905" "441" "c.1905+441del" "r.(=)" "p.(=)" "" "0000867346" "00023832" "30" "1585" "0" "1585" "0" "c.1585A>G" "r.(?)" "p.(Ile529Val)" "" "0000867346" "00000592" "30" "1585" "0" "1585" "0" "c.1585A>G" "r.(?)" "p.(Ile529Val)" "" "0000867347" "00023832" "90" "935" "-1" "935" "-1" "c.935-1G>T" "r.spl?" "p.?" "" "0000867347" "00000592" "90" "935" "-1" "935" "-1" "c.935-1G>T" "r.spl?" "p.?" "" "0000872438" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "15" "0000872439" "00023832" "77" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031Glyfs*58)" "" "0000873412" "00023832" "70" "469" "1" "469" "1" "c.469+1G>T" "r.spl" "p.(?)" "" "0000873413" "00023832" "70" "492" "0" "492" "0" "c.492G>T" "r.(?)" "p.(Trp164Cys)" "" "0000873414" "00023832" "70" "830" "0" "830" "0" "c.830G>T" "r.(?)" "p.(Gly277Val)" "" "0000873415" "00023832" "70" "1077" "0" "1077" "0" "c.1077T>A" "r.(?)" "p.(Cys359*)" "" "0000873416" "00023832" "70" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000873417" "00023832" "70" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000873418" "00023832" "70" "2997" "0" "2998" "0" "c.2997_2998del" "r.(?)" "p.(Glu1000Glyfs*78)" "" "0000873425" "00023832" "70" "469" "1" "469" "1" "c.469+1G>T" "r.spl" "p.(?)" "" "0000873426" "00023832" "70" "469" "1" "469" "1" "c.469+1G>T" "r.spl" "p.(?)" "" "0000873427" "00023832" "70" "492" "0" "492" "0" "c.492G>T" "r.(?)" "p.(Trp164Cys)" "" "0000873428" "00023832" "70" "830" "0" "830" "0" "c.830G>T" "r.(?)" "p.(Gly277Val)" "" "0000873429" "00023832" "70" "1077" "0" "1077" "0" "c.1077T>A" "r.(?)" "p.(Cys359*)" "" "0000873430" "00023832" "70" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000873431" "00023832" "70" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000873432" "00023832" "70" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000873433" "00023832" "70" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" "0000873434" "00023832" "70" "2997" "0" "2998" "0" "c.2997_2998del" "r.(?)" "p.(Glu1000Glyfs*78)" "" "0000878773" "00023832" "90" "1813" "0" "1813" "0" "c.1813G>T" "r.(?)" "p.(Glu605*)" "" "0000878773" "00000592" "90" "1813" "0" "1813" "0" "c.1813G>T" "r.(?)" "p.(Glu605*)" "" "0000880886" "00023832" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "3" "0000880886" "00000592" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "" "0000880887" "00023832" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "3" "0000880887" "00000592" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "" "0000880888" "00023832" "70" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Thr99Ile)" "4" "0000880888" "00000592" "70" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Thr99Ile)" "" "0000880889" "00023832" "70" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Thr206Ile)" "6" "0000880889" "00000592" "70" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Thr206Ile)" "" "0000880890" "00023832" "70" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "8" "0000880890" "00000592" "70" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Gly272Asp)" "" "0000880891" "00023832" "70" "301" "0" "310" "3" "c.301_310+3del" "r.spl" "p.(Val101Lysfs*29)" "4i" "0000880891" "00000592" "70" "301" "0" "310" "3" "c.301_310+3del" "r.spl?" "p.?" "" "0000880892" "00023832" "70" "301" "0" "310" "3" "c.301_310+3del" "r.spl" "p.(Val101Lysfs*29)" "4i" "0000880892" "00000592" "70" "301" "0" "310" "3" "c.301_310+3del" "r.spl?" "p.?" "" "0000880893" "00023832" "70" "310" "3" "310" "3" "c.310+3A>G" "r.spl" "p.?" "4i" "0000880893" "00000592" "70" "310" "3" "310" "3" "c.310+3A>G" "r.spl?" "p.?" "" "0000880894" "00023832" "70" "779" "-1" "779" "-1" "c.779-1G>A" "r.spl" "p.?" "7i" "0000880894" "00000592" "70" "779" "-1" "779" "-1" "c.779-1G>A" "r.spl?" "p.?" "" "0000880895" "00023832" "70" "1573" "-8" "1573" "-8" "c.1573-8A>G" "r.spl?" "p.?" "13i" "0000880895" "00000592" "70" "1573" "-8" "1573" "-8" "c.1573-8A>G" "r.(=)" "p.(=)" "" "0000880896" "00023832" "70" "1573" "-1" "1576" "0" "c.1573-1_1576delinsAA" "r.spl" "p.(Gln526Thrfs*14)" "1" "0000880896" "00000592" "70" "1573" "-1" "1576" "0" "c.1573-1_1576delinsAA" "r.spl?" "p.?" "" "0000880897" "00023832" "70" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Lys244*)" "7" "0000880897" "00000592" "70" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Lys244*)" "" "0000880898" "00023832" "70" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Lys244*)" "7" "0000880898" "00000592" "70" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Lys244*)" "" "0000880899" "00023832" "70" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Lys244*)" "7" "0000880899" "00000592" "70" "730" "0" "730" "0" "c.730A>T" "r.(?)" "p.(Lys244*)" "" "0000880900" "00023832" "70" "838" "0" "842" "0" "c.838_842del" "r.(?)" "p.(Leu280*)" "8" "0000880900" "00000592" "70" "833" "0" "837" "0" "c.833_837del" "r.(?)" "p.(Leu280*)" "" "0000880901" "00023832" "70" "838" "0" "842" "0" "c.838_842del" "r.(?)" "p.(Leu280*)" "8" "0000880901" "00000592" "70" "833" "0" "837" "0" "c.833_837del" "r.(?)" "p.(Leu280*)" "" "0000880902" "00023832" "70" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Ser284*)" "8" "0000880902" "00000592" "70" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Ser284*)" "" "0000880903" "00023832" "70" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Glu376*)" "10" "0000880903" "00000592" "70" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Glu376*)" "" "0000880904" "00023832" "70" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Glu376*)" "10" "0000880904" "00000592" "70" "1126" "0" "1126" "0" "c.1126G>T" "r.(?)" "p.(Glu376*)" "" "0000880905" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880905" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880906" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880906" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880907" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880907" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880908" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880908" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880909" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880909" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880910" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880910" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880911" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880911" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880912" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880912" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880913" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880913" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880914" "00023832" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Asn34Metfs*34)" "2" "0000880914" "00000592" "70" "97" "0" "97" "0" "c.97del" "r.(?)" "p.(Asn34Metfs*34)" "" "0000880915" "00023832" "70" "219" "0" "219" "0" "c.219del" "r.(?)" "p.(Ala74Profs*11)" "3" "0000880915" "00000592" "70" "219" "0" "219" "0" "c.219del" "r.(?)" "p.(Ala74Profs*11)" "" "0000880916" "00023832" "70" "356" "0" "356" "0" "c.356del" "r.(?)" "p.(Leu119Trpfs*14)" "5" "0000880916" "00000592" "70" "355" "0" "355" "0" "c.355del" "r.(?)" "p.(Leu119Trpfs*14)" "" "0000880917" "00023832" "70" "372" "0" "372" "0" "c.372del" "r.(?)" "p.(Glu125Lysfs*8)" "5" "0000880917" "00000592" "70" "371" "0" "371" "0" "c.371del" "r.(?)" "p.(Glu125Lysfs*8)" "" "0000880918" "00023832" "70" "629" "0" "639" "0" "c.629_639del" "r.(?)" "p.(Glu210Valfs*5)" "7" "0000880918" "00000592" "70" "626" "0" "636" "0" "c.626_636del" "r.(?)" "p.(Glu210Valfs*5)" "" "0000880919" "00023832" "70" "629" "0" "639" "0" "c.629_639del" "r.(?)" "p.(Glu210Valfs*5)" "7" "0000880919" "00000592" "70" "626" "0" "636" "0" "c.626_636del" "r.(?)" "p.(Glu210Valfs*5)" "" "0000880920" "00023832" "70" "1092" "0" "1092" "0" "c.1092dup" "r.(?)" "p.(Ala365Cysfs*12)" "10" "0000880920" "00000592" "70" "1088" "0" "1088" "0" "c.1088dup" "r.(?)" "p.(Ala365Cysfs*12)" "" "0000880921" "00023832" "70" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "10" "0000880921" "00000592" "70" "1237" "0" "1238" "0" "c.1237_1238del" "r.(?)" "p.(Arg415Glyfs*37)" "" "0000880922" "00023832" "70" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "10" "0000880922" "00000592" "70" "1237" "0" "1238" "0" "c.1237_1238del" "r.(?)" "p.(Arg415Glyfs*37)" "" "0000880923" "00023832" "70" "1319" "0" "1322" "0" "c.1319_1322del" "r.(?)" "p.(Cys440Phefs*35)" "11" "0000880923" "00000592" "70" "1317" "0" "1320" "0" "c.1317_1320del" "r.(?)" "p.(Cys440Phefs*35)" "" "0000880924" "00023832" "70" "1319" "0" "1322" "0" "c.1319_1322del" "r.(?)" "p.(Cys440Phefs*35)" "11" "0000880924" "00000592" "70" "1317" "0" "1320" "0" "c.1317_1320del" "r.(?)" "p.(Cys440Phefs*35)" "" "0000880925" "00023832" "70" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000880925" "00000592" "70" "1376" "0" "1377" "0" "c.1376_1377del" "r.(?)" "p.(Leu460Ilefs*2)" "" "0000880926" "00023832" "70" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000880926" "00000592" "70" "1376" "0" "1377" "0" "c.1376_1377del" "r.(?)" "p.(Leu460Ilefs*2)" "" "0000880927" "00023832" "70" "1377" "0" "1378" "0" "c.1377_1378del" "r.(?)" "p.(Leu460Ilefs*2)" "11" "0000880927" "00000592" "70" "1376" "0" "1377" "0" "c.1376_1377del" "r.(?)" "p.(Leu460Ilefs*2)" "" "0000880928" "00023832" "70" "1662" "0" "1665" "0" "c.1662_1665del" "r.(?)" "p.(Glu555Glyfs*14)" "14" "0000880928" "00000592" "70" "1659" "0" "1662" "0" "c.1659_1662del" "r.(?)" "p.(Glu555Glyfs*14)" "" "0000880929" "00023832" "70" "2080" "0" "2080" "0" "c.2080A>T" "r.(?)" "p.(Lys694*)" "15" "0000880929" "00000592" "70" "1905" "175" "1905" "175" "c.1905+175A>T" "r.(=)" "p.(=)" "" "0000880930" "00023832" "70" "2146" "0" "2146" "0" "c.2146G>T" "r.(?)" "p.(Glu716*)" "15" "0000880930" "00000592" "70" "1905" "241" "1905" "241" "c.1905+241G>T" "r.(=)" "p.(=)" "" "0000880931" "00023832" "70" "2146" "0" "2146" "0" "c.2146G>T" "r.(?)" "p.(Glu716*)" "15" "0000880931" "00000592" "70" "1905" "241" "1905" "241" "c.1905+241G>T" "r.(=)" "p.(=)" "" "0000880932" "00023832" "70" "2176" "0" "2176" "0" "c.2176G>T" "r.(?)" "p.(Glu726*)" "15" "0000880932" "00000592" "70" "1905" "271" "1905" "271" "c.1905+271G>T" "r.(=)" "p.(=)" "" "0000880933" "00023832" "70" "2212" "0" "2212" "0" "c.2212G>T" "r.(?)" "p.(Gly738*)" "15" "0000880933" "00000592" "70" "1905" "307" "1905" "307" "c.1905+307G>T" "r.(=)" "p.(=)" "" "0000880934" "00023832" "70" "2212" "0" "2212" "0" "c.2212G>T" "r.(?)" "p.(Gly738*)" "15" "0000880934" "00000592" "70" "1905" "307" "1905" "307" "c.1905+307G>T" "r.(=)" "p.(=)" "" "0000880935" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15" "0000880935" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000880936" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15" "0000880936" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000880937" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15" "0000880937" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000880938" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15" "0000880938" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000880939" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15" "0000880939" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000880940" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746Argfs*23)" "15" "0000880940" "00000592" "70" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000880941" "00023832" "70" "2340" "0" "2340" "0" "c.2340del" "r.(?)" 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"p.(Glu802Glyfs*32)" "15" "0000880950" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880951" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880951" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880952" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880952" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880953" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880953" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880954" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880954" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880955" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880955" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880956" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880956" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880957" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880957" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880958" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880958" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880959" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880959" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880960" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802Glyfs*32)" "15" "0000880960" "00000592" "70" "1905" "498" "1905" "499" "c.1905+498_1905+499del" "r.(=)" "p.(=)" "" "0000880961" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "15" "0000880961" "00000592" "70" "1905" "519" "1905" "520" "c.1905+519_1905+520del" "r.(=)" "p.(=)" "" "0000880962" "00023832" "70" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Glu809Glyfs*25)" "15" "0000880962" "00000592" "70" "1905" "519" "1905" "520" "c.1905+519_1905+520del" "r.(=)" "p.(=)" "" "0000880963" "00023832" "70" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "15" "0000880963" "00000592" "70" "1905" "537" "1905" "540" "c.1905+537_1905+540del" "r.(=)" "p.(=)" "" "0000880964" "00023832" "70" "2442" "0" "2445" "0" "c.2442_2445del" "r.(?)" "p.(Gly817Lysfs*2)" "15" "0000880964" "00000592" "70" "1905" "537" "1905" "540" "c.1905+537_1905+540del" "r.(=)" "p.(=)" "" "0000880965" "00023832" "70" "2483" "0" "2496" "0" "c.2483_2496del" "r.(?)" "p.(Glu828Glyfs*2)" "15" "0000880965" "00000592" "70" "1905" "576" "1905" "589" "c.1905+576_1905+589del" "r.(=)" "p.(=)" "" "0000880966" "00023832" "70" "1938" "0" "1939" "0" "c.1938_1939insAGAGG" "r.(?)" "p.(Ala647Argfs*52)" "15" "0000880966" "00000592" "70" "1905" "33" "1905" "34" "c.1905+33_1905+34insAGAGG" "r.(=)" "p.(=)" "" "0000880967" "00023832" "70" "2234" "0" "2237" "0" "c.2234_2237del" "r.(?)" "p.(Arg745Lysfs*69)" "15" "0000880967" "00000592" "70" "1905" "328" "1905" "331" "c.1905+328_1905+331del" "r.(=)" "p.(=)" "" "0000880968" "00023832" "70" "2252" "0" "2255" "0" "c.2252_2255del" "r.(?)" "p.(Lys751Argfs*63)" "15" "0000880968" "00000592" "70" "1905" "345" "1905" "348" "c.1905+345_1905+348del" "r.(=)" "p.(=)" "" "0000880969" "00023832" "70" "2252" "0" "2255" "0" "c.2252_2255del" "r.(?)" "p.(Lys751Argfs*63)" "15" "0000880969" "00000592" "70" "1905" "345" "1905" "348" "c.1905+345_1905+348del" "r.(=)" "p.(=)" "" "0000880970" "00023832" "70" "2274" "0" "2277" "0" "c.2274_2277del" "r.(?)" "p.(Gly759Lysfs*55)" "15" "0000880970" "00000592" "70" "1905" "365" "1905" "368" "c.1905+365_1905+368del" "r.(=)" "p.(=)" "" "0000880971" "00023832" "70" "2473" "0" "2473" "0" "c.2473del" "r.(?)" "p.(Glu825Argfs*264)" "15" "0000880971" "00000592" "70" "1905" "568" "1905" "568" "c.1905+568del" "r.(=)" "p.(=)" "" "0000880972" "00023832" "70" "2516" "0" "2520" "0" "c.2516_2520del" "r.(?)" "p.(Glu839Glyfs*238)" "15" "0000880972" "00000592" "70" "1905" "609" "1905" "613" "c.1905+609_1905+613del" "r.(=)" "p.(=)" "" "0000880974" "00023832" "70" "2516" "0" "2520" "0" "c.2516_2520del" "r.(?)" "p.(Glu839Glyfs*238)" "15" "0000880974" "00000592" "70" "1905" "609" "1905" "613" "c.1905+609_1905+613del" "r.(=)" "p.(=)" "" "0000880975" "00023832" "70" "2517" "0" "2518" "0" "c.2517_2518del" "r.(?)" "p.(Glu841Glyfs*237)" "15" "0000880975" "00000592" "70" "1905" "612" "1905" "613" "c.1905+612_1905+613del" "r.(=)" "p.(=)" "" "0000880976" "00023832" "70" "2601" "0" "2602" "0" "c.2601_2602del" "r.(?)" "p.(Glu868Glyfs*210)" "15" "0000880976" "00000592" "70" "1905" "694" "1905" "695" "c.1905+694_1905+695del" "r.(=)" "p.(=)" "" "0000880977" "00023832" "70" "2601" "0" "2602" "0" "c.2601_2602del" "r.(?)" "p.(Glu868Glyfs*210)" "15" "0000880977" "00000592" "70" "1905" "694" "1905" "695" "c.1905+694_1905+695del" "r.(=)" "p.(=)" "" "0000880978" "00023832" "70" "2625" "0" "2625" "0" "c.2625dupA" "r.(?)" "p.(Gly876Argfs*203)" "15" "0000880978" "00000592" "70" "1905" "719" "1905" "719" "c.1905+719dup" "r.(=)" "p.(=)" "" "0000880979" "00023832" "70" "2791" "0" "2791" "0" "c.2791delG" "r.(?)" "p.(Glu931Argfs*158)" "15" "0000880979" "00000592" "70" "1905" "883" "1905" "883" "c.1905+883del" "r.(=)" "p.(=)" "" "0000880980" "00023832" "70" "2867" "0" "2867" "0" "c.2867delA" "r.(?)" "p.(Glu956Glyfs*133)" "15" "0000880980" "00000592" "70" "1905" "962" "1905" "962" "c.1905+962del" "r.(=)" "p.(=)" "" "0000880981" "00023832" "70" "2867" "0" "2867" "0" "c.2867delA" "r.(?)" "p.(Glu956Glyfs*133)" "15" "0000880981" "00000592" "70" "1905" "962" "1905" "962" "c.1905+962del" "r.(=)" "p.(=)" "" "0000880985" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880985" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880986" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880986" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880987" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880987" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880988" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880988" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880989" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880989" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880990" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880990" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880991" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880991" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880992" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880992" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880993" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880993" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880994" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880994" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880995" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880995" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880996" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880996" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880997" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880997" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880998" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880998" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000880999" "00023832" "70" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Asp10Ilefs*58)" "1" "0000880999" "00000592" "70" "25" "0" "25" "0" "c.25del" "r.(?)" "p.(Asp10Ilefs*58)" "" "0000881000" "00023832" "70" "28" "2" "28" "2" "c.28+2T>C" "r.(?)" "p.(?)" "1i" "0000881000" "00000592" "70" "28" "2" "28" "2" "c.28+2T>C" "r.spl?" "p.?" "" "0000881001" "00023832" "70" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Val38Tyrfs*30)" "2" "0000881001" "00000592" "70" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Val38Tyrfs*30)" "" "0000881002" "00023832" "70" "248" "-28" "248" "-10" "c.248-28_248-10del" "r.(?)" "p.(?)" "3" "0000881002" "00000592" "70" "248" "-32" "248" "-14" "c.248-32_248-14del" "r.(=)" "p.(=)" "" "0000881003" "00023832" "70" "329" "0" "329" "0" "c.329C>A" "r.(?)" "p.(Ala110Glu)" "5" "0000881003" "00000592" "70" "329" "0" "329" "0" "c.329C>A" "r.(?)" "p.(Ala110Glu)" "" "0000881004" "00023832" "70" "334" "0" "336" "0" "c.334_336del" "r.(?)" "p.(Glu778_799delinsGlu)" "5" "0000881004" "00000592" "70" "333" "0" "335" "0" "c.333_335del" "r.(?)" "p.(Gly113del)" "" "0000881005" "00023832" "70" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Ile142Ser)" "5" "0000881005" "00000592" "70" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Ile142Ser)" "" "0000881006" "00023832" "70" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Ile142Ser)" "5" "0000881006" "00000592" "70" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Ile142Ser)" "" "0000881007" "00023832" "70" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Ile142Ser)" "5" "0000881007" "00000592" "70" "425" "0" "425" "0" "c.425T>G" "r.(?)" "p.(Ile142Ser)" "" "0000881008" "00023832" "70" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "7" "0000881008" "00000592" "70" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "" "0000881009" "00023832" "70" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "7" "0000881009" "00000592" "70" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "" "0000881010" "00023832" "70" "901" "0" "901" "0" "c.901del" "r.(?)" "p.(Ser301Leufs*9)" "8" "0000881010" "00000592" "70" "899" "0" "899" "0" "c.899del" "r.(?)" "p.(Ser301Leufs*9)" "" "0000881011" "00023832" "70" "901" "0" "901" "0" "c.901del" "r.(?)" "p.(Ser301Leufs*9)" "8" "0000881011" "00000592" "70" "899" "0" "899" "0" "c.899del" "r.(?)" "p.(Ser301Leufs*9)" "" "0000881012" "00023832" "70" "901" "0" "901" "0" "c.901del" "r.(?)" "p.(Ser301Leufs*9)" "8" "0000881012" "00000592" "70" "899" "0" "899" "0" "c.899del" "r.(?)" "p.(Ser301Leufs*9)" "" "0000881013" "00023832" "70" "1060" "-2" "1060" "-2" "c.1060-2A>T" "r.(?)" "p.(?)" "10" "0000881013" "00000592" "70" "1060" "-2" "1060" "-2" "c.1060-2A>T" "r.spl?" "p.?" "" "0000881014" "00023832" "70" "1060" "-2" "1060" "-2" "c.1060-2A>T" "r.(?)" "p.(?)" "10" "0000881014" "00000592" "70" "1060" "-2" "1060" "-2" "c.1060-2A>T" "r.spl?" "p.?" "" "0000881015" "00023832" "70" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403*)" "10" "0000881015" "00000592" "70" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Gln403*)" "" "0000881016" "00023832" "70" "" "0" "" "0" "1246-?_*1091-?" "r.(?)" "p.(?) deletion after exon 10" "10" "0000881017" "00023832" "70" "1336" "0" "1361" "0" "c.1336_1361dup" "r.(?)" "p.(Asn454Lysfs*31)" "10" "0000881017" "00000592" "70" "1335" "0" "1360" "0" "c.1335_1360dup" "r.(?)" "p.(Asn454Lysfs*31)" "" "0000881018" "00023832" "70" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449*)" "11" "0000881018" "00000592" "70" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449*)" "" "0000881019" "00023832" "70" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449*)" "11" "0000881019" "00000592" "70" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449*)" "" "0000881020" "00023832" "70" "1573" "-1" "1753" "1" "c.1573-?_1753+?del" "r.(?)" "p.(Lys525Argfs*17)" "14" "0000881021" "00023832" "70" "1573" "-1" "3459" "1" "c.1573-?_3459+?del" "r.(?)" "p.(?)" "14-" "0000881022" "00023832" "70" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Gln534*)" "14" "0000881022" "00000592" "70" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Gln534*)" "" "0000881023" "00023832" "70" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Gln534*)" "14" "0000881023" "00000592" "70" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Gln534*)" "" "0000881024" "00023832" "70" "1685" "0" "1686" "0" "c.1685_1686del" "r.(?)" "p.(His562Argfs*20)" "14" "0000881024" "00000592" "70" "1685" "0" "1686" "0" "c.1685_1686del" "r.(?)" "p.(His562Argfs*20)" "" "0000881025" "00023832" "70" "1773" "0" "1776" "0" "c.1773_1776del" "r.(?)" "p.(Gly592Glnfs*9)" "15" "0000881025" "00000592" "70" "1767" "0" "1770" "0" "c.1767_1770del" "r.(?)" "p.(Gly592Glnfs*9)" "" "0000881026" "00023832" "70" "2010" "0" "2010" "0" "c.2010del" "r.(?)" "p.(Asp671fs)" "15" "0000881026" "00000592" "70" "1905" "104" "1905" "104" "c.1905+104del" "r.(=)" "p.(=)" "" "0000881027" "00023832" "70" "2200" "0" "2200" "0" "c.2200G>T" "r.(?)" "p.(Glu734*)" "15" "0000881027" "00000592" "70" "1905" "295" "1905" "295" "c.1905+295G>T" "r.(=)" "p.(=)" "" "0000881028" "00023832" "70" "2237" "0" "2241" "0" "c.2237_2241del" "r.(?)" 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"p.(Ser1107Valfs*4)" "15" "0000881090" "00000592" "70" "1905" "1406" "1905" "1406" "c.1905+1406dup" "r.(=)" "p.(=)" "" "0000881091" "00023832" "70" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Ser1107Valfs*4)" "15" "0000881091" "00000592" "70" "1905" "1406" "1905" "1406" "c.1905+1406dup" "r.(=)" "p.(=)" "" "0000881092" "00023832" "70" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Ser1107Valfs*4)" "15" "0000881092" "00000592" "70" "1905" "1406" "1905" "1406" "c.1905+1406dup" "r.(=)" "p.(=)" "" "0000881093" "00023832" "70" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Ser1107Valfs*4)" "15" "0000881093" "00000592" "70" "1905" "1406" "1905" "1406" "c.1905+1406dup" "r.(=)" "p.(=)" "" "0000881094" "00023832" "70" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Ser1107Valfs*4)" "15" "0000881094" "00000592" "70" "1905" "1406" "1905" "1406" "c.1905+1406dup" "r.(=)" "p.(=)" "" "0000881095" "00023832" "70" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" 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"p.(Ser1107Valfs*4)" "15" "0000881100" "00000592" "70" "1905" "1406" "1905" "1406" "c.1905+1406dup" "r.(=)" "p.(=)" "" "0000881101" "00023832" "70" "3317" "0" "3317" "0" "c.3317dup" "r.(?)" "p.(Ser1107Valfs*4)" "15" "0000881101" "00000592" "70" "1905" "1406" "1905" "1406" "c.1905+1406dup" "r.(=)" "p.(=)" "" "0000881102" "00023832" "70" "3388" "0" "3389" "0" "c.3388_3389del" "r.(?)" "p.(Leu1130Lysfs*13)" "15" "0000881102" "00000592" "70" "1905" "1481" "1905" "1482" "c.1905+1481_1905+1482del" "r.(=)" "p.(=)" "" "0000881103" "00023832" "70" "3388" "0" "3389" "0" "c.3388_3389del" "r.(?)" "p.(Leu1130Lysfs*13)" "15" "0000881103" "00000592" "70" "1905" "1481" "1905" "1482" "c.1905+1481_1905+1482del" "r.(=)" "p.(=)" "" "0000881104" "00023832" "70" "3388" "0" "3389" "0" "c.3388_3389del" "r.(?)" "p.(Leu1130Lysfs*13)" "15" "0000881104" "00000592" "70" "1905" "1481" "1905" "1482" "c.1905+1481_1905+1482del" "r.(=)" "p.(=)" "" "0000881105" "00023832" "70" "3388" "0" "3389" "0" "c.3388_3389del" "r.(?)" "p.(Leu1130Lysfs*13)" "15" "0000881105" "00000592" "70" "1905" "1481" "1905" "1482" "c.1905+1481_1905+1482del" "r.(=)" "p.(=)" "" "0000881106" "00023832" "70" "3388" "0" "3389" "0" "c.3388_3389del" "r.(?)" "p.(Leu1130Lysfs*13)" "15" "0000881106" "00000592" "70" "1905" "1481" "1905" "1482" "c.1905+1481_1905+1482del" "r.(=)" "p.(=)" "" "0000881107" "00023832" "70" "3388" "0" "3389" "0" "c.3388_3389del" "r.(?)" "p.(Leu1130Lysfs*13)" "15" "0000881107" "00000592" "70" "1905" "1481" "1905" "1482" "c.1905+1481_1905+1482del" "r.(=)" "p.(=)" "" "0000881108" "00023832" "90" "1573" "-12" "1573" "-12" "c.1573-12A>G" "r.spl" "p.?" "" "0000881108" "00000592" "90" "1573" "-12" "1573" "-12" "c.1573-12A>G" "r.(=)" "p.(=)" "" "0000881109" "00023832" "90" "779" "-5" "779" "-5" "c.779-5T>G" "r.spl" "p.?" "" "0000881109" "00000592" "90" "779" "-5" "779" "-5" "c.779-5T>G" "r.spl?" "p.?" "" "0000881110" "00023832" "90" "247" "5" "247" "5" "c.247+5G>A" "r.spl" "p.?" "" "0000881110" "00000592" "90" "247" "5" "247" "5" "c.247+5G>A" "r.spl?" "p.?" "" "0000881111" "00023832" "90" "247" "5" "247" "5" "c.247+5G>A" "r.spl" "p.?" "" "0000881111" "00000592" "90" "247" "5" "247" "5" "c.247+5G>A" "r.spl?" "p.?" "" "0000881112" "00023832" "90" "6" "0" "154" "3" "c.154+3_6delTAGT" "r.spl" "p.?" "" "0000881112" "00000592" "90" "154" "1" "154" "4" "c.154+1_154+4del" "r.spl?" "p.?" "" "0000881447" "00023832" "70" "3338" "0" "3338" "0" "c.3338del" "r.(?)" "p.(Gly1113Glufs*18)" "" "0000881448" "00023832" "70" "3163" "0" "3164" "0" "c.3163_3164del" "r.(?)" "p.(Asn1055Glnfs*23)" "" "0000881449" "00023832" "70" "2980" "0" "2980" "0" "c.2980G>T" "r.(?)" "p.(Glu994*)" "" "0000896179" "00023832" "30" "13929" "0" "13929" "0" "c.*10470A>G" "r.(=)" "p.(=)" "" "0000896179" "00000592" "30" "2149" "19" "2149" "19" "c.2149+19A>G" "r.(=)" "p.(=)" "" "0000896180" "00023832" "10" "3264" "0" "3264" "0" "c.3264G>A" "r.(?)" "p.(Val1088=)" "" "0000896180" "00000592" "10" "1905" "1359" "1905" "1359" "c.1905+1359G>A" "r.(=)" "p.(=)" "" "0000896181" "00023832" "10" "3219" "0" "3219" "0" "c.3219C>T" "r.(?)" "p.(Gly1073=)" "" "0000896181" "00000592" "10" "1905" "1314" "1905" "1314" "c.1905+1314C>T" "r.(=)" "p.(=)" "" "0000896182" "00023832" "30" "2919" "0" "2939" "0" "c.2919_2939dup" "r.(?)" "p.(Gly977_Glu983dup)" "" "0000896182" "00000592" "30" "1905" "1014" "1905" "1034" "c.1905+1014_1905+1034dup" "r.(=)" "p.(=)" "" "0000896183" "00023832" "30" "2898" "0" "2898" "0" "c.2898G>A" "r.(?)" "p.(Gly966=)" "" "0000896183" "00000592" "30" "1905" "993" "1905" "993" "c.1905+993G>A" "r.(=)" "p.(=)" "" "0000896184" "00023832" "30" "2841" "0" "2841" "0" "c.2841G>A" "r.(?)" "p.(Glu947=)" "" "0000896184" "00000592" "30" "1905" "936" "1905" "936" "c.1905+936G>A" "r.(=)" "p.(=)" "" "0000896185" "00023832" "10" "2799" "0" "2804" "0" "c.2799_2804del" "r.(?)" "p.(Glu935_Glu936del)" "" "0000896185" "00000592" "10" "1905" "894" "1905" "899" "c.1905+894_1905+899del" "r.(=)" "p.(=)" "" "0000896186" "00023832" "30" "2694" "0" "2696" "0" "c.2694_2696del" "r.(?)" "p.(Glu899del)" "" "0000896186" "00000592" "30" "1905" "789" "1905" "791" "c.1905+789_1905+791del" "r.(=)" "p.(=)" "" "0000896187" "00023832" "30" "2606" "0" "2620" "0" "c.2606_2620del" "r.(?)" "p.(Glu869_Glu873del)" "" "0000896187" "00000592" "30" "1905" "701" "1905" "715" "c.1905+701_1905+715del" "r.(=)" "p.(=)" "" "0000896188" "00023832" "30" "2606" "0" "2606" "0" "c.2606A>G" "r.(?)" "p.(Glu869Gly)" "" "0000896188" "00000592" "30" "1905" "701" "1905" "701" "c.1905+701A>G" "r.(=)" "p.(=)" "" "0000896189" "00023832" "30" "2520" "0" "2520" "0" "c.2520G>T" "r.(?)" "p.(Gly840=)" "" "0000896189" "00000592" "30" "1905" "615" "1905" "615" "c.1905+615G>T" "r.(=)" "p.(=)" "" "0000896190" "00023832" "10" "2541" "0" "2561" "0" "c.2541_2561del" "r.(?)" "p.(Glu850_Gly856del)" "" "0000896190" "00000592" "10" "1905" "636" "1905" "656" "c.1905+636_1905+656del" "r.(=)" "p.(=)" "" "0000896191" "00023832" "30" "2517" "0" "2517" "0" "c.2517A>G" "r.(?)" "p.(Glu839=)" "" "0000896191" "00000592" "30" "1905" "612" "1905" "612" "c.1905+612A>G" "r.(=)" "p.(=)" "" "0000896192" "00023832" "10" "2223" "0" "2223" "0" "c.2223G>A" "r.(?)" "p.(Glu741=)" "" "0000896192" "00000592" "10" "1905" "318" "1905" "318" "c.1905+318G>A" "r.(=)" "p.(=)" "" "0000896193" "00023832" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "" "0000896193" "00000592" "10" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Glu)" "" "0000896194" "00023832" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(=)" "p.(=)" "" "0000896194" "00000592" "10" "1572" "11" "1572" "11" "c.1572+11A>G" "r.(=)" "p.(=)" "" "0000896195" "00023832" "10" "1296" "0" "1296" "0" "c.1296A>T" "r.(?)" "p.(Glu432Asp)" "" "0000896195" "00000592" "10" "1296" "0" "1296" "0" "c.1296A>T" "r.(?)" "p.(Glu432Asp)" "" "0000896196" "00023832" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "" "0000896196" "00000592" "10" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Ile431Val)" "" "0000896197" "00023832" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "" "0000896197" "00000592" "10" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425Lys)" "" "0000896198" "00023832" "50" "1216" "0" "1216" "0" "c.1216C>G" "r.(?)" "p.(Leu406Val)" "" "0000896198" "00000592" "50" "1216" "0" "1216" "0" "c.1216C>G" "r.(?)" "p.(Leu406Val)" "" "0000896199" "00023832" "70" "779" "-2" "779" "-2" "c.779-2A>G" "r.spl?" "p.?" "" "0000896199" "00000592" "70" "779" "-2" "779" "-2" "c.779-2A>G" "r.spl?" "p.?" "" "0000896200" "00023832" "10" "-52" "0" "-52" "0" "c.-52C>A" "r.(?)" "p.(=)" "" "0000896200" "00000592" "10" "-52" "0" "-52" "0" "c.-52C>A" "r.(?)" "p.(=)" "" "0000896468" "00023832" "90" "2425" "0" "2425" "0" "c.2425G>T" "r.(?)" "p.(Glu809Ter)" "" "0000896468" "00000592" "90" "1905" "520" "1905" "520" "c.1905+520G>T" "r.(=)" "p.(=)" "" "0000896469" "00023832" "90" "3160" "0" "3160" "0" "c.3160G>T" "r.(?)" "p.(Glu1054Ter)" "" "0000896469" "00000592" "90" "1905" "1255" "1905" "1255" "c.1905+1255G>T" "r.(=)" "p.(=)" "" "0000896517" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000896517" "00000592" "90" "1905" "500" "1905" "501" "c.1905+500_1905+501del" "r.(=)" "p.(=)" "" "0000896576" "00023832" "90" "2236" "0" "2237" "0" "c.2236_2237delGA" "r.(?)" "p.(Glu746ArgfsTer23)" "" "0000896576" "00000592" "90" "1905" "328" "1905" "329" "c.1905+328_1905+329del" "r.(=)" "p.(=)" "" "0000896598" "00023832" "70" "1991" "0" "1991" "0" "c.1991C>G" "r.(?)" "p.(Ser664Ter)" "" "0000896598" "00000592" "70" "1905" "86" "1905" "86" "c.1905+86C>G" "r.(=)" "p.(=)" "" "0000896618" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000896618" "00000592" "90" "1905" "500" "1905" "501" "c.1905+500_1905+501del" "r.(=)" "p.(=)" "" "0000896654" "00023832" "90" "614" "0" "614" "0" "c.614dupT" "r.(?)" "p.(Thr206AsnfsTer5)" "" "0000896654" "00000592" "90" "614" "0" "614" "0" "c.614dup" "r.(?)" "p.(Thr206Asnfs*5)" "" "0000896719" "00023832" "70" "2237" "0" "2238" "0" "c.2237_2238delAA" "r.(?)" "p.(Glu746GlyfsTer23)" "" "0000896719" "00000592" "70" "1905" "332" "1905" "333" "c.1905+332_1905+333del" "r.(=)" "p.(=)" "" "0000902191" "00023832" "90" "3334" "0" "3335" "0" "c.3334_3335del" "r.(?)" "p.(Gln1112Glyfs*31)" "" "0000902191" "00000592" "90" "1905" "1429" "1905" "1430" "c.1905+1429_1905+1430del" "r.(=)" "p.(=)" "" "0000905503" "00023832" "70" "3070" "0" "3070" "0" "c.3070G>T" "r.(?)" "p.(Glu1024*)" "" "0000905503" "00000592" "70" "1905" "1165" "1905" "1165" "c.1905+1165G>T" "r.(=)" "p.(=)" "" "0000905948" "00023832" "70" "646" "0" "646" "0" "c.646G>T" "r.(?)" "p.(Glu216*)" "" "0000905948" "00000592" "70" "646" "0" "646" "0" "c.646G>T" "r.(?)" "p.(Glu216*)" "" "0000905949" "00023832" "70" "646" "0" "646" "0" "c.646G>T" "r.(?)" "p.(Glu216*)" "" "0000905949" "00000592" "70" "646" "0" "646" "0" "c.646G>T" "r.(?)" "p.(Glu216*)" "" "0000905950" "00023832" "90" "2894" "0" "2894" "0" "c.2894del" "r.(?)" "p.(Glu965Glyfs*124)" "" "0000905950" "00000592" "90" "1905" "989" "1905" "989" "c.1905+989del" "r.(=)" "p.(=)" "" "0000905951" "00023832" "90" "2894" "0" "2894" "0" "c.2894del" "r.(?)" "p.(Glu965Glyfs*124)" "" "0000905951" "00000592" "90" "1905" "989" "1905" "989" "c.1905+989del" "r.(=)" "p.(=)" "" "0000905960" "00023832" "90" "2777" "0" "2778" "0" "c.2777_2778del" "r.(?)" "p.(Glu926Glyfs*152)" "" "0000905960" "00000592" "90" "1905" "869" "1905" "870" "c.1905+869_1905+870del" "r.(=)" "p.(=)" "" "0000915707" "00023832" "50" "3457" "0" "3457" "0" "c.3457T>A" "r.(?)" "p.(*1153Lysext*38)" "" "0000915707" "00000592" "50" "1905" "1552" "1905" "1552" "c.1905+1552T>A" "r.(=)" "p.(=)" "" "0000915708" "00023832" "50" "2560" "0" "2560" "0" "c.2560G>C" "r.(?)" "p.(Gly854Arg)" "" "0000915708" "00000592" "50" "1905" "655" "1905" "655" "c.1905+655G>C" "r.(=)" "p.(=)" "" "0000915792" "00023832" "70" "1367" "0" "1368" "0" "c.1367_1368del" "r.(?)" "p.(Gln456Argfs*6)" "11" "0000915810" "00023832" "70" "934" "1" "934" "1" "c.934+1G>C" "r.spl?" "p.(?)" "8i" "0000915865" "00023832" "90" "3027" "0" "3028" "0" "c.3027_3028del" "r.(=)" "p.(Glu1010Glyfs*68)" "12" "0000915898" "00023832" "70" "1304" "0" "1305" "0" "c.1304_1305del" "r.(?)" "p.(Leu435Argfs*17)" "11" "0000915967" "00023832" "70" "28" "2" "28" "2" "c.28+2T>C" "r.spl?" "p.(?)" "1i" "0000915975" "00023832" "90" "2324" "0" "2325" "0" "c.2324_2325del" "r.(=)" "p.(Ile775Argfs*9)" "12" "0000915991" "00023832" "70" "2041" "0" "2042" "0" "c.2041_2042del" "r.(=)" "p.(Glu681Argfs*7)" "12" "0000915992" "00023832" "70" "2057" "0" "2060" "0" "c.2057_2060del" "r.(=)" "p.(Thr686Metfs*17)" "12" "0000915998" "00023832" "70" "2041" "0" "2042" "0" "c.2041_2042del" "r.(=)" "p.(Glu681Argfs*7)" "12" "0000916040" "00023832" "90" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "10" "0000916050" "00023832" "50" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Glu)" "5" "0000916213" "00023832" "70" "891" "0" "892" "0" "c.891_892del" "r.(?)" "p.(Ile297Metfs*48)" "8" "0000916346" "00023832" "50" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Gly530Arg)" "12" "0000916387" "00023832" "70" "" "0" "" "0" "c.(1245+1_1246-1)_(*135+?)del" "r.?" "p.(Glu416Ilefs*4)" "" "0000916504" "00023832" "90" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Gln236*)" "7" "0000916565" "00023832" "70" "842" "0" "843" "0" "c.842_843del" "r.(?)" "p.(Phe281*)" "8" "0000916643" "00023832" "70" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Arg)" "3" "0000916663" "00023832" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "10" "0000916707" "00023832" "90" "2405" "0" "2406" "0" "c.2405_2406del" "r.(=)" "p.(Glu802Glyfs*32)" "12" "0000916716" "00023832" "90" "1872" "0" "1873" "0" "c.1872_1873del" "r.(=)" "p.(Glu624Aspfs*5)" "12" "0000916743" "00023832" "90" "1243" "0" "1244" "0" "c.1243_1244del" "r.(?)" "p.(Arg415Glyfs*37)" "10" "0000927360" "00023832" "70" "3423" "0" "3423" "0" "c.3423G>A" "r.(?)" "p.(Trp1141*)" "" "0000927360" "00000592" "70" "1905" "1518" "1905" "1518" "c.1905+1518G>A" "r.(=)" "p.(=)" "" "0000927361" "00023832" "30" "620" "-17" "620" "-17" "c.620-17T>C" "r.(=)" "p.(=)" "" "0000927361" "00000592" "30" "620" "-17" "620" "-17" "c.620-17T>C" "r.(=)" "p.(=)" "" "0000927362" "00023832" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "" "0000927362" "00000592" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66*)" "" "0000931404" "00023832" "50" "2985" "0" "3116" "0" "c.2985_3116del" "r.(?)" "p.(Glu1002_Glu1045del)" "" "0000931404" "00000592" "50" "1905" "1080" "1905" "1211" "c.1905+1080_1905+1211del" "r.(=)" "p.(=)" "" "0000931405" "00023832" "90" "3092" "0" "3092" "0" "c.3092del" "r.(?)" "p.(Glu1031GlyfsTer58)" "" "0000931405" "00000592" "90" "1905" "1187" "1905" "1187" "c.1905+1187del" "r.(=)" "p.(=)" "" "0000931406" "00023832" "90" "2878" "0" "2878" "0" "c.2878G>T" "r.(?)" "p.(Glu960*)" "" "0000931406" "00000592" "90" "1905" "973" "1905" "973" "c.1905+973G>T" "r.(=)" "p.(=)" "" "0000931407" "00023832" "10" "2447" "0" "2461" "0" "c.2447_2461del" "r.(?)" "p.(Gly816_Glu820del)" "" "0000931407" "00000592" "10" "1905" "542" "1905" "556" "c.1905+542_1905+556del" "r.(=)" "p.(=)" "" "0000931408" "00023832" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000931408" "00000592" "10" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000931409" "00023832" "10" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Thr51=)" "" "0000931409" "00000592" "10" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Thr51=)" "" "0000931410" "00023832" "70" "29" "-2" "30" "0" "c.29-2_30del" "r.spl?" "p.?" "" "0000931410" "00000592" "70" "29" "-2" "30" "0" "c.29-2_30del" "r.spl?" "p.?" "" "0000933410" "00023832" "90" "19351" "0" "19352" "0" "c.*15892_*15893del" "r.(=)" "p.(=)" "" "0000933410" "00000592" "90" "2426" "0" "2427" "0" "c.2426_2427del" "r.(?)" "p.(Ser809*)" "" "0000933411" "00023832" "90" "1206" "0" "1215" "0" "c.1206_1215del" "r.(?)" "p.(Gln403Tyrfs*19)" "" "0000933411" "00000592" "90" "1206" "0" "1215" "0" "c.1206_1215del" "r.(?)" "p.(Gln403Tyrfs*19)" "" "0000933412" "00023832" "90" "934" "1" "934" "1" "c.934+1G>C" "r.spl" "p.?" "" "0000933412" "00000592" "90" "934" "1" "934" "1" "c.934+1G>C" "r.spl" "p.?" "" "0000933804" "00000592" "90" "779" "-1" "2241" "1" "c.(778+1_779-1)_(2241+1_2242-1)del" "r.?" "p.?" "7i_18i" "0000951749" "00023832" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Glu947Glyfs*142)" "" "0000951749" "00000592" "90" "1905" "935" "1905" "935" "c.1905+935del" "r.(=)" "p.(=)" "" "0000952549" "00023832" "90" "1861" "0" "1861" "0" "c.1861dup" "r.(?)" "p.(Glu621GlyfsTer9)" "" "0000952550" "00023832" "90" "2287" "0" "2287" "0" "c.2287G>T" "r.(?)" "p.(Glu763Ter)" "" "0000952551" "00023832" "90" "2416" "0" "2416" "0" "c.2416del" "r.(?)" "p.(Glu806ArgfsTer9)" "" "0000952552" "00023832" "90" "2455" "0" "2468" "0" "c.2455_2468del" "r.(?)" "p.(Val819ArgfsTer11)" "" "0000952553" "00023832" "90" "2468" "0" "2472" "0" "c.2468_2472del" "r.(?)" "p.(Lys823ArgfsTer10)" "" "0000952554" "00023832" "90" "2548" "0" "2548" "0" "c.2548G>T" "r.(?)" "p.(Glu850Ter)" "" "0000952555" "00023832" "10" "2719" "0" "2719" "0" "c.2719G>T" "r.(?)" "p.(Glu907Ter)" "" "0000952556" "00023832" "90" "2864" "0" "2864" "0" "c.2864G>A" "r.(?)" "p.(Trp955Ter)" "" "0000952557" "00023832" "90" "3286" "0" "3287" "0" "c.3286_3287delinsC" "r.(?)" "p.(Lys1096HisfsTer35)" "" "0000952558" "00023832" "90" "3308" "0" "3308" "0" "c.3308dup" "r.(?)" "p.(Tyr1103Ter)" "" "0000952602" "00023832" "50" "2719" "0" "2719" "0" "c.2719G>T" "r.(?)" "p.(Glu907Ter)" "" "0000958121" "00023832" "70" "3081" "0" "3082" "0" "c.3081_3082del" "r.(?)" "p.(Glu1028GlyfsTer50)" "" "0000958124" "00023832" "90" "3070" "0" "3070" "0" "c.3070G>T" "r.(?)" "p.(Glu1024Ter)" "" "0000958186" "00023832" "70" "2405" "0" "2406" "0" "c.2405_2406del" "r.(?)" "p.(Glu802GlyfsTer32)" "" "0000958189" "00023832" "70" "3134" "0" "3137" "0" "c.3134_3137del" "r.(?)" "p.(Glu1045GlyfsTer43)" "" "0000958250" "00023832" "90" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Gln1125Ter)" "" "0000958355" "00023832" "90" "1836" "0" "1836" "0" "c.1836del" "r.(?)" "p.(Asn612LysfsTer2)" "" "0000958455" "00023832" "50" "2594" "0" "2596" "0" "c.2594_2596del" "r.(?)" "p.(Gly865del)" "" "0000958791" "00023832" "70" "2628" "0" "2629" "0" "c.2628_2629del" "r.(?)" "p.(Glu877GlyfsTer201)" "" "0000958792" "00023832" "70" "2167" "0" "2167" "0" "c.2167del" "r.(?)" "p.(Arg723GlufsTer92)" "" "0000958793" "00023832" "90" "2501" "0" "2501" "0" "c.2501del" "r.(?)" "p.(Glu834GlyfsTer255)" "" "0000958794" "00023832" "70" "2735" "0" "2735" "0" "c.2735del" "r.(?)" "p.(Gly912GlufsTer177)" "" "0000958795" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746ArgfsTer23)" "" "0000958796" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746ArgfsTer23)" "" "0000958798" "00023832" "90" "379" "0" "379" "0" "c.379del" "r.(?)" "p.(Arg127GlufsTer6)" "" "0000958799" "00023832" "70" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Gly215Val)" "" "0000958801" "00023832" "90" "3049" "0" "3049" "0" "c.3049G>T" "r.(?)" "p.(Glu1017Ter)" "" "0000958803" "00023832" "90" "1281" "0" "1282" "0" "c.1281_1282del" "r.(?)" "p.(Leu428ThrfsTer24)" "" "0000958804" "00023832" "90" "2476" "0" "2477" "0" "c.2476_2477del" "r.(?)" "p.(Arg826GlyfsTer8)" "" "0000958805" "00023832" "70" "2236" "0" "2237" "0" "c.2236_2237del" "r.(?)" "p.(Glu746ArgfsTer23)" "" "0000958806" "00023832" "90" "2689" "0" "2689" "0" "c.2689G>T" "r.(?)" "p.(Glu897Ter)" "" "0000958807" "00023832" "70" "779" "-5" "779" "-5" "c.779-5T>G" "r.spl?" "p.?" "" "0000958809" "00023832" "70" "2780" "0" "2782" "0" "c.2780_2782delinsGAGGAGGAAGGAGAGGAAT" "r.(?)" "p.(Glu927GlyfsTer157)" "" "0000958810" "00023832" "70" "1573" "-12" "1573" "-12" "c.1573-12A>G" "r.spl?" "p.?" "" "0000958811" "00023832" "70" "2323" "0" "2324" "0" "c.2323_2324del" "r.(?)" "p.(Arg775GlufsTer59)" "" "0000958813" "00023832" "90" "2501" "0" "2501" "0" "c.2501del" "r.(?)" "p.(Glu834GlyfsTer255)" "" "0000958816" "00023832" "90" "2763" "0" "2764" "0" "c.2763_2764del" "r.(?)" "p.(Glu922GlyfsTer156)" "" "0000958817" "00023832" "90" "2548" "0" "2548" "0" "c.2548G>T" "r.(?)" "p.(Glu850Ter)" "" "0000958818" "00023832" "90" "1216" "0" "1217" "0" "c.1216_1217del" "r.(?)" "p.(Leu406IlefsTer46)" "" "0000958819" "00023832" "70" "1932" "0" "1933" "0" "c.1932_1933insC" "r.(?)" "p.(Gly645ArgfsTer8)" "" "0000958820" "00023832" "90" "29" "-1" "29" "-1" "c.29-1G>T" "r.spl" "p.?" "" "0000958822" "00023832" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000958823" "00023832" "90" "2218" "0" "2218" "0" "c.2218G>T" "r.(?)" "p.(Glu740Ter)" "" "0000958825" "00023832" "90" "1245" "224" "1414" "653" "c.1245+224_1414+653del" "r.?" "p.?" "" "0000958843" "00023832" "50" "2594" "0" "2596" "0" "c.2594_2596del" "r.(?)" "p.(Gly865del)" "" "0000958865" "00023832" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Glu754Lys)" "" "0000958989" "00023832" "50" "617" "0" "617" "0" "c.617C>A" "r.(?)" "p.(Thr206Lys)" "" "0000959081" "00023832" "50" "3095" "0" "3106" "0" "c.3095_3106del" "r.(?)" "p.(Gly1032_Glu1035del)" "" "0000959263" "00023832" "50" "2633" "0" "2664" "0" "c.2633_2664delinsAAGAAGGG" "r.(?)" "p.(Gly878_Glu888delinsGluGluGly)" "" "0000959282" "00023832" "50" "2594" "0" "2596" "0" "c.2594_2596del" "r.(?)" "p.(Gly865del)" "" "0000971058" "00023832" "10" "16405" "0" "16406" "0" "c.*12946_*12947dup" "r.(=)" "p.(=)" "" "0000971058" "00000592" "10" "2241" "792" "2241" "793" "c.2241+792_2241+793dup" "r.(=)" "p.(=)" "" "0000971060" "00023832" "90" "2993" "0" "2997" "0" "c.2993_2997del" "r.(?)" "p.(Glu998Glyfs*79)" "" "0000971060" "00000592" "90" "1905" "1088" "1905" "1092" "c.1905+1088_1905+1092del" "r.(=)" "p.(=)" "" "0000971061" "00023832" "30" "2895" "0" "2895" "0" "c.2895G>A" "r.(?)" "p.(=)" "" "0000971061" "00000592" "30" "1905" "990" "1905" "990" "c.1905+990G>A" "r.(=)" "p.(=)" "" "0000971063" "00023832" "50" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Gly269Glu)" "" "0000971063" "00000592" "50" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Gly269Glu)" "" "0000984658" "00023832" "50" "2718" "0" "2720" "0" "c.2718_2720dup" "r.(?)" "p.(Glu907dup)" "" "0000984658" "00000592" "50" "1905" "813" "1905" "815" "c.1905+813_1905+815dup" "r.(=)" "p.(=)" "" "0000984659" "00023832" "30" "1507" "-9" "1507" "-9" "c.1507-9T>C" "r.(=)" "p.(=)" "" "0000984659" "00000592" "30" "1507" "-9" "1507" "-9" "c.1507-9T>C" "r.(=)" "p.(=)" "" "0000984660" "00023832" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Gly433Glu)" "" "0000984660" "00000592" "30" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Gly433Glu)" "" "0000986583" "00023832" "90" "3178" "0" "3179" "0" "c.3178_3179del" "r.(?)" "p.(Glu1060ArgfsTer18)" "15" "0000986584" "00023832" "70" "3382" "0" "3382" "0" "c.3382C>T" "r.(?)" "p.(Arg1128Ter)" "15" "0000986585" "00023832" "90" "2790" "0" "2791" "0" "c.2790_2791del" "r.(?)" "p.(Glu931GlyfsTer147)" "15" "0000986586" "00023832" "70" "2746" "0" "2752" "0" "c.2746_2752del" "r.(?)" "p.(Glu916LysfsTer171)" "15" "0000986587" "00023832" "70" "3139" "0" "3139" "0" "c.3139G>T" "r.(?)" "p.(Glu1047Ter)" "15" "0000986588" "00023832" "70" "3096" "0" "3097" "0" "c.3096_3097del" "r.(?)" "p.(Glu1033ArgfsTer45)" "15" "0001006732" "00023832" "30" "1452" "0" "1452" "0" "c.1452A>G" "r.(?)" "p.(Ile484Met)" "" "0001006732" "00000592" "30" "1452" "0" "1452" "0" "c.1452A>G" "r.(?)" "p.(Ile484Met)" "" "0001006733" "00023832" "70" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Gly272Ser)" "" "0001006733" "00000592" "70" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Gly272Ser)" "" "0001027491" "00023832" "70" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Phe130Cys)" "" "0001027491" "00000592" "70" "389" "0" "389" "0" "c.389T>G" "r.(?)" "p.(Phe130Cys)" "" "0001044311" "00023832" "30" "3051" "0" "3053" "0" "c.3051_3053del" "r.(?)" "p.(Glu1018del)" "" "0001044311" "00000592" "30" "1905" "1146" "1905" "1148" "c.1905+1146_1905+1148del" "r.(=)" "p.(=)" "" "0001044312" "00023832" "30" "2901" "0" "2903" "0" "c.2901_2903del" "r.(?)" "p.(Glu969del)" "" "0001044312" "00000592" "30" "1905" "996" "1905" "998" "c.1905+996_1905+998del" "r.(=)" "p.(=)" "" "0001044313" "00023832" "50" "2880" "0" "2882" "0" "c.2880_2882del" "r.(?)" "p.(Glu961del)" "" "0001044313" "00000592" "50" "1905" "975" "1905" "977" "c.1905+975_1905+977del" "r.(=)" "p.(=)" "" "0001044314" "00023832" "30" "2334" "0" "2336" "0" "c.2334_2336del" "r.(?)" "p.(Glu779del)" "" "0001044314" "00000592" "30" "1905" "429" "1905" "431" "c.1905+429_1905+431del" "r.(=)" "p.(=)" "" "0001044315" "00023832" "30" "1296" "0" "1296" "0" "c.1296A>T" "r.(?)" "p.(Glu432Asp)" "" "0001044315" "00000592" "30" "1296" "0" "1296" "0" "c.1296A>T" "r.(?)" "p.(Glu432Asp)" "" "0001044316" "00023832" "30" "552" "0" "552" "0" "c.552G>T" "r.(?)" "p.(Gln184His)" "" "0001044316" "00000592" "30" "552" "0" "552" "0" "c.552G>T" "r.(?)" "p.(Gln184His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1841 "{{screeningid}}" "{{variantid}}" "0000000005" "0000000231" "0000000057" "0000000153" "0000000209" "0000001862" "0000000209" "0000002881" "0000000209" "0000006594" "0000000209" "0000006595" "0000000209" "0000006596" "0000000209" "0000006597" "0000000209" "0000006598" "0000000210" "0000008652" "0000000210" "0000008653" "0000000210" "0000008654" "0000000210" "0000008655" "0000000210" "0000010881" "0000000210" "0000014560" "0000000210" "0000014561" "0000000210" "0000014564" "0000000231" "0000714411" "0000000235" "0000714412" "0000001585" "0000019479" "0000001600" "0000019502" "0000001603" "0000019505" "0000032885" "0000060434" "0000032886" "0000060435" "0000032887" "0000060436" "0000032888" "0000060437" "0000032889" "0000060440" "0000032890" "0000060441" "0000032891" "0000060442" "0000033172" "0000060443" "0000033172" "0000060448" "0000033186" "0000060444" "0000033188" "0000060445" "0000033209" "0000060438" "0000033216" "0000060447" "0000033223" "0000060439" "0000033223" "0000060446" "0000081523" "0000000153" "0000105493" "0000170927" "0000174756" "0000784125" "0000234639" "0000477347" "0000234640" "0000477348" "0000234641" "0000477349" "0000234642" "0000477350" "0000234643" "0000477351" "0000234644" "0000477352" "0000234645" "0000477353" "0000234646" "0000477354" "0000234647" "0000477355" "0000234648" "0000477356" "0000234649" "0000477357" "0000234650" "0000477358" "0000234651" "0000477359" "0000234652" "0000477360" "0000234653" "0000477361" "0000234654" "0000477362" "0000234655" "0000477363" "0000234656" "0000477364" "0000234657" "0000477365" "0000234658" "0000477366" "0000234659" "0000477367" "0000234660" "0000477368" "0000234661" "0000477369" "0000234662" "0000477370" "0000234663" "0000477371" "0000234664" "0000477372" "0000234665" "0000477373" "0000234666" "0000477374" "0000234667" "0000477375" "0000234668" "0000477376" "0000234669" "0000477377" "0000234670" "0000477378" "0000234671" "0000477379" "0000234672" "0000477380" "0000234673" "0000477381" "0000234674" "0000477382" "0000234675" "0000477383" "0000234901" "0000477609" "0000234902" "0000477610" "0000234903" "0000477611" "0000234904" "0000477612" "0000234905" "0000477613" "0000234906" "0000477614" "0000240105" "0000484103" "0000241569" "0000487579" "0000246884" "0000499709" "0000277234" "0000632001" "0000296724" "0000653422" "0000296773" "0000653484" "0000297967" "0000660675" "0000301412" "0000664345" "0000301413" "0000664346" "0000301414" "0000664347" "0000301415" "0000664348" "0000301416" "0000664349" "0000301417" "0000664350" "0000301418" "0000664351" "0000301419" "0000664352" "0000301420" "0000664353" "0000309702" "0000684575" "0000309703" "0000684576" "0000309704" "0000684577" "0000310529" "0000685440" "0000310530" "0000685441" "0000310531" "0000685442" "0000310532" "0000685443" "0000310533" "0000685444" "0000310534" "0000685445" "0000310535" "0000685446" "0000310536" "0000685447" "0000310537" "0000685448" "0000310538" "0000685449" "0000310539" "0000685450" "0000310540" "0000685451" "0000310541" "0000685452" "0000310542" "0000685453" "0000310543" "0000685454" "0000310544" "0000685455" "0000310545" "0000685456" "0000310546" "0000685457" "0000310547" "0000685458" "0000310548" "0000685459" "0000310549" "0000685460" "0000310550" "0000685461" "0000310551" "0000685462" "0000310552" "0000685463" "0000310877" "0000686017" "0000326673" "0000710265" "0000328362" "0000712305" "0000328363" "0000712306" "0000328364" "0000712307" "0000328365" "0000712308" "0000328366" "0000712309" "0000328367" "0000712310" "0000328368" "0000712311" "0000328369" "0000712312" "0000328370" "0000712313" "0000328371" "0000712314" "0000328372" "0000712315" "0000328373" "0000712316" "0000328374" "0000712317" "0000328375" "0000712318" "0000328376" "0000712319" "0000328377" "0000712320" "0000328378" "0000712321" "0000328379" "0000712322" "0000328380" "0000712323" "0000328381" "0000712324" "0000328382" 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