### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CERKL) # 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}}" "CERKL" "ceramide kinase-like" "2" "q31.3" "unknown" "NG_021178.1" "UD_132085402296" "" "https://www.LOVD.nl/CERKL" "KMeyeDB \r\nMoBiDiC " "1" "21699" "375298" "608381" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the CERKL database using: www.LOVD.nl/CERKL
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CERKL_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00110" "2018-07-20 14:24:24" "00000" "2025-07-08 13:22:38" ## 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}}" "00005010" "CERKL" "transcript variant 2" "007" "NM_001030311.2" "" "NP_001025482.1" "" "" "" "-101" "3189" "1677" "182521834" "182401399" "" "0000-00-00 00:00:00" "" "" "00025854" "CERKL" "transcript variant 1" "006" "NM_201548.4" "" "NP_963842.1" "" "" "" "-101" "3111" "1599" "182521834" "182401399" "03840" "2023-09-14 12:49:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "02465" "MFM9" "myopathy, myofibrillar, 9, with early respiratory failure" "AD" "603689" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02757" "RP26" "retinitis pigmentosa, type 26 (RP26)" "" "608380" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CERKL" "02757" ## Individuals ## Do not remove or alter this header ## ## Count = 299 "{{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}}" "00058419" "" "" "" "24" "" "00515" "{PMID:Chinnery 2001:11310621}, {PMID:Pfeffer 2012:22577215}" "6-generation family, 24 affecteds (15F, 9M)" "-" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00059787" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00100107" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61219" "00100120" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61373" "00104997" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "67ORG1" "00155414" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Yemenite;Jewish" "" "00155415" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Yemenite;Jewish" "" "00173866" "" "" "" "2" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP207" "00232354" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232355" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232356" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232357" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232358" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232359" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232360" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232361" "" "" "" "416" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232362" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232363" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232364" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232365" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232366" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232367" "" "" "" "422" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233645" "" "" "" "54" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233646" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233647" "" "" "" "60" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00240428" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00240429" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00240430" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00276027" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00288325" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00292501" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308377" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC06568" "00308606" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00309034" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309035" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309036" "" "" "" "4" "" "00004" "{PMID:Sharon 2019:31456290}" "4 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309037" "" "" "" "19" "" "00004" "{PMID:Sharon 2019:31456290}" "19 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309038" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00325440" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "2699" "00325442" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "2741" "00325443" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "2792" "00325515" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "EC09" "00327924" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240038" "00327950" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240092" "00328031" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001350" "00328070" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G004716" "00328084" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G005005" "00328140" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005522" "00328319" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "W000249" "00328487" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14022025" "00331973" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat111" "00331974" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat112" "00332476" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat1" "00332477" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat2" "00332478" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat3" "00332479" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat4" "00332480" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat5" "00332481" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat6" "00332482" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat7" "00332483" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat8" "00332484" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat9" "00332485" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat10" "00332486" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat11" "00332487" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat12" "00333366" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat11" "00333384" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD20–07" "00333389" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD5–08" "00333397" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD12–06" "00333897" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "264" "00333898" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "265" "00333922" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "345" "00334472" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}" "family" "" "" "Tunisia" "" "0" "" "" "" "F12" "00334473" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}" "family" "" "" "Tunisia" "" "0" "" "" "" "F13" "00334474" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}" "family" "" "" "Tunisia" "" "0" "" "" "" "F14" "00334475" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}" "family" "" "" "Tunisia" "" "0" "" "" "" "F15" "00335098" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "9094" "00335265" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat2" "00335266" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat53" "00335267" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat55" "00335452" "" "" "" "1" "" "00000" "{PMID:Biswas 2017:28130426}" "" "" "" "India" "" "0" "" "" "Punjabi" "RF.GU.0113" "00335953" "" "" "" "1" "" "00000" "{PMID:Roberts 2016:27898983}" "family, see paper" "" "" "South Africa" "" "0" "" "" "Xhosa" "RP917" "00359005" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13017395" "00359006" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13015689" "00359031" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13011267" "00359043" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13016156" "00359047" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13008348" "00359048" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "11010719" "00359109" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13002962" "00359163" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12013544" "00359190" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12011769" "00359201" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13013069" "00359205" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13000499" "00359227" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13008350" "00359229" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13003074" "00359240" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13011741" "00359243" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13006449" "00362185" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Spain" "" "0" "" "" "" "RP-1056" "00362911" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ARRP138" "00362930" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "RCD117" "00363670" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2308" "00363684" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0401" "00372632" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP311" "00372633" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP144" "00372649" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP053" "00372665" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP313" "00372673" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "QT770" "00372715" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP252" "00373821" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Spain" "" "0" "" "" "" "Pat18" "00373852" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp73" "00373853" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp128" "00374903" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W156-1" "00374919" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "F39-1" "00375410" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#001" "00376316" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "at least a carrier of mutation" "" "" "Finland" "" "0" "" "" "Finnish" "" "00376750" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "10" "00376751" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "11" "00376752" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "12" "00376760" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "22" "00376763" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "25" "00376783" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "49" "00376796" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "63" "00376870" "" "" "" "1" "" "00000" "{PMID:Coppieters 2014:24625443}" "see paper" "" "yes" "Belgium" "" "0" "" "" "" "Fam20" "00377524" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE69" "M" "no" "Japan" "" "0" "" "" "Asian" "EYE69" "00377800" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "no" "Canada" "" "0" "" "" "" "" "00377801" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "no" "" "" "0" "" "" "" "" "00377802" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "no" "Canada" "" "0" "" "" "French Canadian" "" "00377827" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "yes" "" "" "0" "" "" "Spanish" "" "00377828" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "These data were published before as a common phenotype" "" "yes" "" "" "0" "" "" "Spanish" "" "00377829" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "These data were published before as a common phenotype" "" "yes" "" "" "0" "" "" "Spanish" "" "00377830" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "These data were published before as a common phenotype" "" "" "" "" "0" "" "" "Spanish" "" "00377831" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "These data were published before as a common phenotype" "" "" "" "" "0" "" "" "Spanish" "" "00377832" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "These data were published before as a common phenotype" "" "yes" "" "" "0" "" "" "Spanish" "" "00377833" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377834" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "These data were published before as a common phenotype" "" "yes" "" "" "0" "" "" "Spanish" "" "00377835" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00379644" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0026" "00379818" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016092106" "00380132" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "likely" "Saudi Arabia" "" "0" "" "" "" "12DG0399" "00380177" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP153, II:1" "?" "no" "Spain" "" "0" "" "" "" "II:1" "00380182" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP169" "?" "?" "Spain" "" "0" "" "" "" "?" "00380188" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP176, II:1" "?" "no" "Spain" "" "0" "" "" "" "II:1" "00380208" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP67, II:1" "?" "no" "Spain" "" "0" "" "" "" "II:1" "00380211" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP8, II:2" "?" "no" "Spain" "" "0" "" "" "" "II:2" "00380368" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23134348}" "" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00381059" "" "" "" "1" "" "00000" "{PMID:Fu-2013:23661369}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381157" "" "" "" "1" "" "00008" "{PMID:Nishiguchi-2013:24043777}" "" "M" "no" "" "" "0" "" "" "Mixed European" "" "00381158" "" "" "" "1" "" "00008" "{PMID:Nishiguchi-2013:24043777}" "" "M" "no" "" "" "0" "" "" "Mixed European" "" "00381231" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "patient carry mutation known cause other retinal diseases. Cone–rod dystrophy" "" "no" "" "" "0" "" "" "" "" "00381894" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "44" "00381895" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "M" "" "Germany" "" "0" "" "" "" "45" "00382249" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "78" "00382250" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "79" "00382517" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "379" "00383868" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "4619" "00383869" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "4645" "00383907" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0057" "00383910" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0211" "00383911" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0218" "00383917" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0325" "00383933" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0657" "00383936" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0719" "00383945" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0828" "00383983" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1361" "00383990" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1419" "00384002" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1562" "00384003" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1565" "00384016" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1676" "00384023" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1719" "00384083" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2164" "00384093" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2225" "00384153" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2730" "00384161" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2823" "00384204" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066871" "00384216" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066889" "00384217" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066892" "00384280" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13393" "00384737" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384738" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00386205" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-325" "00386245" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-211, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-475" "00386265" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-43, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-113" "00386266" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-43, family member" "F" "" "Spain" "" "0" "" "" "" "RPN-114" "00386747" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2892_004477" "00387507" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "Previously described in Aleman et al., 2009" "M" "" "United States" "" "0" "" "" "" "" "00387511" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "Previously described in Aleman et al., 2009" "F" "" "United States" "" "0" "" "" "" "" "00387515" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "Previously described in Aleman et al., 2009" "F" "" "United States" "" "0" "" "" "" "" "00388279" "" "" "" "1" "" "00000" "{PMID:Nadeem 2020:32411380}" "Family PKRP373" "M" "yes" "Pakistan" "" "0" "" "" "" "8" "00388280" "" "" "" "1" "" "00000" "{PMID:Nadeem 2020:32411380}" "Family PKRP373" "M" "yes" "Pakistan" "" "0" "" "" "" "9" "00388281" "" "" "" "1" "" "00000" "{PMID:Nadeem 2020:32411380}" "Family PKRP373" "M" "yes" "Pakistan" "" "0" "" "" "" "10" "00388481" "" "" "" "1" "" "00000" "{PMID:Ellingford 2017:28378820}, {PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15005668" "00388485" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14017566" "00388567" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.033" "00388921" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 74, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "205" "00389488" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 299, macular dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "772" "00389673" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 426, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "957" "00389710" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 458, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "994" "00389808" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 728, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1092" "00389824" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 749, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1108" "00389872" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 822, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1156" "00390208" "" "" "" "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" "" "" "" "G001350" "00390209" "" "" "" "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" "" "" "" "G004716" "00390210" "" "" "" "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" "" "" "" "G005005" "00390211" "" "" "" "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" "" "" "" "G005522" "00390212" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000249" "00391150" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "112" "00391151" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "113" "00391152" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "114" "00391153" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "115" "00393483" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393664" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393785" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393845" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393918" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00394547" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394548" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00396649" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00408443" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "30" "00409068" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB32" "F" "" "Yemen" "" "0" "" "" "Jewish" "TB32_II:4" "00409069" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB32" "M" "" "Yemen" "" "0" "" "" "Jewish" "TB32_II:6" "00409070" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB32" "M" "" "Yemen" "" "0" "" "" "Jewish" "TB32_II:7" "00409071" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB32" "M" "" "Yemen" "" "0" "" "" "Jewish" "TB32_II:9" "00409072" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB32" "F" "" "Yemen" "" "0" "" "" "Jewish" "TB32_II:11" "00409073" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB56" "M" "yes" "Yemen" "" "0" "" "" "Jewish" "TB56_II:2" "00409074" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0050" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0050_II:1" "00409075" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0050" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0050_II:3" "00409076" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB47" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "TB47_II:2" "00409077" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB47" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "TB47_II:3" "00409078" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB47" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "TB47_III:1" "00409079" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB47" "M" "yes" "Yemen" "" "0" "" "" "Jewish" "TB47_III:4" "00409080" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB47" "M" "yes" "Yemen" "" "0" "" "" "Jewish" "TB47_III:5" "00409081" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family TB47" "M" "yes" "Yemen" "" "0" "" "" "Jewish" "TB47_III:6" "00409082" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "M" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_II:2" "00409083" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "M" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_II:3" "00409084" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_II:5" "00409085" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_II:6" "00409086" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_II:7" "00409087" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_II:8" "00409088" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_II:9" "00409089" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_III:2" "00409090" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "F" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0530_III:3" "00409091" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "M" "" "Yemen" "" "0" "" "" "Jewish" "MOL0312_II:3" "00409092" "" "" "" "1" "" "00000" "{PMID:Auslender 2007:18055789}" "Family MOL0530" "M" "yes" "Yemen" "" "0" "" "" "Jewish" "MOL0009_II:1" "00409093" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Almeria" "?" "" "Spain" "" "0" "" "" "" "211" "00409094" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Toledo" "?" "" "Spain" "" "0" "" "" "" "828" "00409095" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Burgos" "?" "" "Spain" "" "0" "" "" "" "218" "00409096" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Burgos" "?" "" "Spain" "" "0" "" "" "" "320-1" "00409097" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Burgos" "?" "" "Spain" "" "0" "" "" "" "320-2" "00409098" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Sevilla" "?" "" "Spain" "" "0" "" "" "" "325" "00409099" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Burgos" "?" "" "Spain" "" "0" "" "" "" "335-1" "00409100" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Burgos" "?" "" "Spain" "" "0" "" "" "" "335-2" "00409101" "" "" "" "1" "" "00000" "{PMID:Avila-Fernandez 2008:18515597}" "Spanish family from Ciudad Real" "?" "" "Spain" "" "0" "" "" "" "595" "00409102" "" "" "" "1" "" "00000" "{PMID:Ali 2008:18978954}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "2" "00409103" "" "" "" "1" "" "00000" "{PMID:Ali 2008:18978954}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "2" "00409104" "" "" "" "1" "" "00000" "{PMID:Ali 2008:18978954}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistani" "2" "00409117" "" "" "" "1" "" "00000" "{PMID:Aleman 2009:19578027}" "Family 1" "F" "" "United States" "" "0" "" "" "German, English/Irish" "Family 1_P1" "00409118" "" "" "" "1" "" "00000" "{PMID:Aleman 2009:19578027}" "Family 1" "M" "" "United States" "" "0" "" "" "German, English/Irish" "Family 1_P2" "00409119" "" "" "" "1" "" "00000" "{PMID:Aleman 2009:19578027}" "Family 1" "F" "" "United States" "" "0" "" "" "German, English/Irish" "Family 1_P3" "00409120" "" "" "" "1" "" "00000" "{PMID:Aleman 2009:19578027}" "Family 3" "M" "" "United States" "" "0" "" "" "English/Irish/Welsh" "Family 3_P1" "00409121" "" "" "" "1" "" "00000" "{PMID:Aleman 2009:19578027}" "Family 2" "M" "" "United States" "" "0" "" "" "German, English/Irish" "Family 2_P1" "00409122" "" "" "" "1" "" "00000" "{PMID:Aleman 2009:19578027}" "Family 2" "F" "" "United States" "" "0" "" "" "German, English/Irish" "Family 2_P2" "00409123" "" "" "" "1" "" "00000" "{PMID:Khan 2015:24547929}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Patient 1" "00409124" "" "" "" "1" "" "00000" "{PMID:Khan 2015:24547929}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Patient 2" "00409196" "" "" "" "1" "" "00000" "{PMID:Sengillo 2019:30696906}" "" "M" "" "" "" "0" "" "" "Irish" "P1" "00409197" "" "" "" "1" "" "00000" "{PMID:Sengillo 2019:30696906}" "" "F" "" "" "" "0" "" "" "Irish" "P2" "00409198" "" "" "" "1" "" "00000" "{PMID:Sengillo 2019:30696906}" "" "M" "" "" "" "0" "" "" "Indian" "P3" "00409199" "" "" "" "1" "" "00000" "{PMID:Sengillo 2019:30696906}" "" "F" "" "" "" "0" "" "" "Greek" "P4" "00409200" "" "" "" "1" "" "00000" "{PMID:Azab 2019:30851774}" "family 1, individual V-14" "" "" "Jordan" "" "0" "" "" "" "1_V-14" "00409201" "" "" "" "1" "" "00000" "{PMID:Azab 2019:30851774}" "family 1, individual V-15" "" "" "Jordan" "" "0" "" "" "" "1_V-15" "00409202" "" "" "" "1" "" "00000" "{PMID:Azab 2019:30851774}" "family 1, individual V-17" "" "" "Jordan" "" "0" "" "" "" "1_V-17" "00409203" "" "" "" "1" "" "00000" "{PMID:Azab 2019:30851774}" "family 1, individual V-26" "" "" "Jordan" "" "0" "" "" "" "1_V-26" "00409204" "" "" "" "1" "" "00000" "{PMID:Azab 2019:30851774}" "family 1, individual V-30" "" "" "Jordan" "" "0" "" "" "" "1_V-30" "00409205" "" "" "" "1" "" "00000" "{PMID:Azab 2019:30851774}" "family 2, individual IV-6" "" "" "Jordan" "" "0" "" "" "" "2_IV-6" "00419696" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "067180" "00426941" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 44, individual 53" "F" "" "" "" "0" "" "" "" "44_53" "00429754" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429855" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429886" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429931" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429962" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430119" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00446992" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-440" "00447078" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-658" "00447098" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-796" "00447492" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP-511-1" "00447526" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CD-623" "00450767" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066721" "00450768" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066777" "00450769" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066841" "00450770" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "067194" "00450771" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "070805" "00450772" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "070861" "00450773" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073066" "00450774" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073215" "00450775" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "DNA18-13658" "00451049" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "066725" "00451164" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071781" "00451219" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072169" "00461102" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat37" "00461132" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat67" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 299 "{{individualid}}" "{{diseaseid}}" "00058419" "02465" "00059787" "00112" "00100107" "04214" "00100120" "00381" "00104997" "04214" "00155414" "04214" "00155415" "04210" "00173866" "04214" "00232354" "04214" "00232355" "04214" "00232356" "04214" "00232357" "04214" "00232358" "04214" "00232359" "04214" "00232360" "04214" "00232361" "04214" "00232362" "04214" "00232363" "04214" "00232364" "04214" "00232365" "04214" "00232366" "04214" "00232367" "04214" "00233645" "04214" "00233646" "04214" "00233647" "04214" "00240428" "00381" "00240429" "00381" "00240430" "00381" "00276027" "00198" "00288325" "00198" "00292501" "00198" "00308377" "04214" "00308606" "04214" "00309034" "04214" "00309035" "04214" "00309036" "04214" "00309037" "04214" "00309038" "04214" "00325440" "04214" "00325442" "04214" "00325443" "04214" "00325515" "04214" "00327924" "04214" "00327950" "04214" "00328031" "04214" "00328070" "04214" "00328084" "04214" "00328140" "04214" "00328319" "04214" "00328487" "04214" "00331973" "04214" "00331974" "04214" "00332476" "04214" "00332477" "04214" "00332478" "04214" "00332479" "04214" "00332480" "04214" "00332481" "04214" "00332482" "04214" "00332483" "04214" "00332484" "04214" "00332485" "04214" "00332486" "04214" "00332487" "04214" "00333366" "04214" "00333384" "04214" "00333389" "04214" "00333397" "04214" "00333897" "04214" "00333898" "04214" "00333922" "04214" "00334472" "04214" "00334473" "04214" "00334474" "04214" "00334475" "04214" "00335098" "00198" "00335265" "04214" "00335266" "04214" "00335267" "04214" "00335452" "04214" "00335953" "04214" "00359005" "04214" "00359006" "04214" "00359031" "04214" "00359043" "04214" "00359047" "04214" "00359048" "04214" "00359109" "04214" "00359163" "04214" "00359190" "04214" "00359201" "04214" "00359205" "04214" "00359227" "04214" "00359229" "04214" "00359240" "04214" "00359243" "04214" "00362185" "04214" "00362911" "04214" "00362930" "04214" "00363670" "04214" "00363684" "04214" "00372632" "04214" "00372633" "04214" "00372649" "04214" "00372665" "04214" "00372673" "04214" "00372715" "04214" "00373821" "04214" "00373852" "04214" "00373853" "04214" "00374903" "04214" "00374919" "04214" "00375410" "04214" "00376316" "04214" "00376750" "04214" "00376751" "04214" "00376752" "04214" "00376760" "04214" "00376763" "04214" "00376783" "04214" "00376796" "04214" "00376870" "04214" "00377524" "04214" "00377800" "04214" "00377801" "04214" "00377802" "04214" "00377827" "04214" "00377828" "04214" "00377829" "04214" "00377830" "04214" "00377831" "04214" "00377832" "04214" "00377833" "04214" "00377834" "04214" "00377835" "04214" "00379644" "00112" "00379818" "04214" "00380132" "04214" "00380177" "04214" "00380182" "04214" "00380188" "04214" "00380208" "04214" "00380211" "04214" "00380368" "04214" "00381059" "04214" "00381157" "04214" "00381158" "04214" "00381231" "04214" "00381894" "04214" "00381895" "04214" "00382249" "04214" "00382250" "04214" "00382517" "04214" "00383868" "04214" "00383869" "04214" "00383907" "04214" "00383910" "04214" "00383911" "04214" "00383917" "04214" "00383933" "04214" "00383936" "04214" "00383945" "04214" "00383983" "04214" "00383990" "04214" "00384002" "04214" "00384003" "04214" "00384016" "04214" "00384023" "04214" "00384083" "04214" "00384093" "04214" "00384153" "04214" "00384161" "04214" "00384204" "04214" "00384216" "04214" "00384217" "04214" "00384280" "04214" "00384737" "04214" "00384738" "04214" "00386205" "04214" "00386245" "04214" "00386265" "04214" "00386266" "04214" "00386747" "04214" "00387507" "04214" "00387511" "04214" "00387515" "04214" "00388279" "04214" "00388280" "04214" "00388281" "04214" "00388481" "04214" "00388485" "04214" "00388567" "04214" "00388921" "04214" "00389488" "04214" "00389673" "04214" "00389710" "04214" "00389808" "04214" "00389824" "04214" "00389872" "04214" "00390208" "04214" "00390209" "04214" "00390210" "04214" "00390211" "04214" "00390212" "04214" "00391150" "04214" "00391151" "04214" "00391152" "04214" "00391153" "04214" "00393483" "04214" "00393664" "04214" "00393785" "04214" "00393845" "04214" "00393918" "04214" "00394547" "04214" "00394548" "04214" "00396649" "04214" "00408443" "04214" "00409068" "04214" "00409069" "04214" "00409070" "04214" "00409071" "04214" "00409072" "04214" "00409073" "04214" "00409074" "04214" "00409075" "04214" "00409076" "04214" "00409077" "04214" "00409078" "04214" "00409079" "04214" "00409080" "04214" "00409081" "04214" "00409082" "04214" "00409083" "04214" "00409084" "04214" "00409085" "04214" "00409086" "04214" "00409087" "04214" "00409088" "04214" "00409089" "04214" "00409090" "04214" "00409091" "04214" "00409092" "04214" "00409093" "04214" "00409094" "04214" "00409095" "04214" "00409096" "04214" "00409097" "04214" "00409098" "04214" "00409099" "04214" "00409100" "04214" "00409101" "04214" "00409102" "04214" "00409103" "04214" "00409104" "04214" "00409117" "04214" "00409118" "04214" "00409119" "04214" "00409120" "04214" "00409121" "04214" "00409122" "04214" "00409123" "04214" "00409124" "04214" "00409196" "04214" "00409197" "04214" "00409198" "04214" "00409199" "04214" "00409200" "04214" "00409201" "04214" "00409202" "04214" "00409203" "04214" "00409204" "04214" "00409205" "04214" "00419696" "04214" "00426941" "04214" "00429754" "00112" "00429855" "00112" "00429886" "00112" "00429931" "00112" "00429962" "04210" "00430119" "00112" "00446992" "00198" "00447078" "00198" "00447098" "00198" "00447492" "00198" "00447526" "00198" "00450767" "04249" "00450768" "04249" "00450769" "04249" "00450770" "04249" "00450771" "04249" "00450772" "04249" "00450773" "04249" "00450774" "04249" "00450775" "04249" "00451049" "04249" "00451164" "04249" "00451219" "04249" "00461102" "04214" "00461132" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 02465, 02757, 04210, 04214, 04249 ## Count = 275 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000045050" "02465" "00058419" "00515" "Familial, autosomal dominant" "" "hereditary myopathy with early respiratory failure" "" "" "" "" "" "" "" "" "" "" "" "0000046279" "00112" "00059787" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078344" "04214" "00100107" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000078357" "00381" "00100120" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082888" "04214" "00104997" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127914" "04214" "00155414" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127915" "04210" "00155415" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000138719" "04214" "00173866" "02449" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP3" "retinitis pigmentosa" "" "0000210583" "00198" "00276027" "01807" "Unknown" "" "Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" "" "0000222029" "00198" "00288325" "01807" "Unknown" "" "Cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "" "" "0000233804" "04214" "00308377" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000234034" "04214" "00308606" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234354" "04214" "00309034" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234355" "04214" "00309035" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234356" "04214" "00309036" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234357" "04214" "00309037" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234358" "04214" "00309038" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000243927" "04214" "00325440" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243929" "04214" "00325442" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243930" "04214" "00325443" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000244002" "04214" "00325515" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246151" "04214" "00327924" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246177" "04214" "00327950" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246258" "04214" "00328031" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246297" "04214" "00328070" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246311" "04214" "00328084" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246367" "04214" "00328140" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000246546" "04214" "00328319" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246713" "04214" "00328487" "00000" "Familial, autosomal recessive" "13y" "retinal dystrophy (HP:0000556)" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000250164" "04214" "00331973" "00000" "Familial, autosomal dominant" "25y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "20y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250165" "04214" "00331974" "00000" "Familial, autosomal dominant" "38y" "reduced visual acuity" "21y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250660" "04214" "00332476" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000250661" "04214" "00332477" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy/cone‐rod dystrophy" "" "0000250662" "04214" "00332478" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000250663" "04214" "00332479" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000250664" "04214" "00332480" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000250665" "04214" "00332481" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone‐rod dystrophy" "" "0000250666" "04214" "00332482" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000250667" "04214" "00332483" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000250668" "04214" "00332484" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy (AR)" "" "0000250669" "04214" "00332485" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone‐rod dystrophy" "" "0000250670" "04214" "00332486" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000250671" "04214" "00332487" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone‐rod dystrophy" "" "0000251553" "04214" "00333366" "00000" "Unknown" "20y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251571" "04214" "00333384" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CRD" "" "0000251576" "04214" "00333389" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" "" "0000251584" "04214" "00333397" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" "" "0000252082" "04214" "00333897" "00000" "Familial, autosomal recessive" "68y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252083" "04214" "00333898" "00000" "Familial, autosomal recessive" "37y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252107" "04214" "00333922" "00000" "Familial, autosomal recessive" "24y" "clinical category IA1b" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000252561" "04214" "00334472" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252562" "04214" "00334473" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252563" "04214" "00334474" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252564" "04214" "00334475" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252813" "00198" "00335098" "00000" "Unknown" "" "15y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000252980" "04214" "00335265" "02485" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252981" "04214" "00335266" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252982" "04214" "00335267" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253397" "04214" "00335452" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000253854" "04214" "00335953" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000254302" "04214" "00359005" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000254303" "04214" "00359006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000254328" "04214" "00359031" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254340" "04214" "00359043" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254344" "04214" "00359047" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254345" "04214" "00359048" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254406" "04214" "00359109" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254460" "04214" "00359163" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254487" "04214" "00359190" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254498" "04214" "00359201" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254502" "04214" "00359205" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254524" "04214" "00359227" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" "" "0000254526" "04214" "00359229" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" "" "0000254537" "04214" "00359240" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" "" "0000254540" "04214" "00359243" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" "" "0000257599" "04214" "00362185" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258277" "04214" "00362911" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258296" "04214" "00362930" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000259020" "04214" "00363670" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259034" "04214" "00363684" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000267911" "04214" "00372632" "00000" "Isolated (sporadic)" "31y" "see paper; ..." "26y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267912" "04214" "00372633" "00000" "Familial, autosomal dominant" "5y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267928" "04214" "00372649" "00000" "Familial, autosomal dominant" "33y" "see paper; ..." "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267944" "04214" "00372665" "00000" "Familial, autosomal recessive" "45y" "see paper; ..." "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267952" "04214" "00372673" "00000" "Familial, autosomal recessive" "15y" "see paper; ..." "11y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267994" "04214" "00372715" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269030" "04214" "00373821" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269061" "04214" "00373852" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269062" "04214" "00373853" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270113" "04214" "00374903" "00000" "Isolated (sporadic)" "27y" "best corrected visual acuity 0.3/0.1" "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270129" "04214" "00374919" "00000" "Familial, autosomal recessive" "54y" "best corrected visual acuity hand movement/fingers count" "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270624" "04214" "00375410" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271524" "04214" "00376316" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy (CRD)" "" "0000271961" "04214" "00376750" "00000" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "" "Decreased vision, field loss, night vision blindness" "" "0000271962" "04214" "00376751" "00000" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "" "Progressive central and peripheral vision loss, abnormal constructed visual field" "" "0000271963" "04214" "00376752" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, loss of peripheral vision" "" "0000271971" "04214" "00376760" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271974" "04214" "00376763" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271994" "04214" "00376783" "00000" "Familial, autosomal dominant" "54y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macular subatrophy, pseudohole" "" "0000272007" "04214" "00376796" "00000" "Unknown" "67y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272081" "04214" "00376870" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000272674" "04214" "00377524" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" "" "0000272946" "04214" "00377800" "00000" "Unknown" "48y" "" "30y" "" "" "" "" "" "" "" "" "Cone–Rod Dystrophy" "" "0000272947" "04214" "00377801" "00000" "Unknown" "51y" "" "28y" "" "" "" "" "" "" "" "" "Cone–Rod Dystrophy" "" "0000272948" "04214" "00377802" "00000" "Unknown" "53y" "" "29y" "" "" "" "" "" "" "" "" "Cone–Rod Dystrophy" "" "0000272973" "04214" "00377827" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272974" "04214" "00377828" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272975" "04214" "00377829" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272976" "04214" "00377830" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272977" "04214" "00377831" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272978" "04214" "00377832" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272979" "04214" "00377833" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272980" "04214" "00377834" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272981" "04214" "00377835" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000273488" "00112" "00379644" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0000007,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273672" "04214" "00379818" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273987" "04214" "00380132" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000274032" "04214" "00380177" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274037" "04214" "00380182" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274043" "04214" "00380188" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274063" "04214" "00380208" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274066" "04214" "00380211" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274219" "04214" "00380368" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274910" "04214" "00381059" "00000" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000275008" "04214" "00381157" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (ARRP)" "" "0000275009" "04214" "00381158" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (ARRP)" "" "0000275082" "04214" "00381231" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275736" "04214" "00381894" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275737" "04214" "00381895" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000276098" "04214" "00382249" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276099" "04214" "00382250" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000276366" "04214" "00382517" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277653" "04214" "00383868" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277654" "04214" "00383869" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277692" "04214" "00383907" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277695" "04214" "00383910" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277696" "04214" "00383911" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277702" "04214" "00383917" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277718" "04214" "00383933" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277721" "04214" "00383936" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277730" "04214" "00383945" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277768" "04214" "00383983" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277775" "04214" "00383990" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277787" "04214" "00384002" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277788" "04214" "00384003" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277801" "04214" "00384016" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277808" "04214" "00384023" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277868" "04214" "00384083" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277878" "04214" "00384093" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277938" "04214" "00384153" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277946" "04214" "00384161" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277989" "04214" "00384204" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278001" "04214" "00384216" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000278002" "04214" "00384217" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278065" "04214" "00384280" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "macular degeneration" "" "0000278520" "04214" "00384737" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278521" "04214" "00384738" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000280008" "04214" "00386205" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000280048" "04214" "00386245" "00000" "Familial, autosomal recessive" "27y" "" "" "23y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280068" "04214" "00386265" "00000" "Familial, autosomal recessive" "51y" "" "" "20y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000280069" "04214" "00386266" "00000" "Familial, autosomal recessive" "50y" "" "" "20y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280547" "04214" "00386747" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281070" "04214" "00387507" "00000" "Familial" "" "" "30y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) Multiplex" "" "0000281074" "04214" "00387511" "00000" "Familial" "" "" "38y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) Multiplex" "" "0000281078" "04214" "00387515" "00000" "Familial" "" "" "54y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) Multiplex" "" "0000281834" "04214" "00388279" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000281835" "04214" "00388280" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000281836" "04214" "00388281" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000282033" "04214" "00388481" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy or retinitis pigmentosa (RCD/RP)" "" "0000282037" "04214" "00388485" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy or retinitis pigmentosa (RCD/RP)" "" "0000282107" "04214" "00388567" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "39y" "" "" "" "" "" "" "Retinitis pigmentosa type 26 Cone‐rod dystrop" "Retinitis pigmentosa" "" "0000282462" "04214" "00388921" "00000" "Familial, autosomal recessive" "29y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000283029" "04214" "00389488" "00000" "Familial, autosomal recessive" "68y" "age at genetic diagnosis mentioned" "" "66y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283214" "04214" "00389673" "00000" "Familial, autosomal recessive" "18y" "age at genetic diagnosis mentioned" "" "17y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283251" "04214" "00389710" "00000" "Familial, autosomal recessive" "61y" "age at genetic diagnosis mentioned" "" "53y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283349" "04214" "00389808" "00000" "Familial, autosomal recessive" "46y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283365" "04214" "00389824" "00000" "Familial, autosomal recessive" "36y" "age at genetic diagnosis mentioned" "" "35y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283413" "04214" "00389872" "00000" "Isolated (sporadic)" "33y" "age at genetic diagnosis mentioned" "" "29y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283746" "04214" "00390208" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283747" "04214" "00390209" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283748" "04214" "00390210" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283749" "04214" "00390211" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283750" "04214" "00390212" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284592" "04214" "00391150" "00000" "Unknown" "26y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284593" "04214" "00391151" "00000" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284594" "04214" "00391152" "00000" "Unknown" "48y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284595" "04214" "00391153" "00000" "Unknown" "48y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000286689" "04214" "00393483" "00000" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286870" "04214" "00393664" "00000" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286991" "04214" "00393785" "00000" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287051" "04214" "00393845" "00000" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" "" "0000287124" "04214" "00393918" "00000" "Isolated (sporadic)" "51y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287750" "04214" "00394547" "00000" "Familial, autosomal recessive" "35y" "" "6y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287751" "04214" "00394548" "00000" "Familial, autosomal recessive" "51y" "" "22y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000289810" "04214" "00396649" "00000" "Isolated (sporadic)" "72y" "decreased visual acuity; atypical phenotype(mainly paravenous pigement)" "65y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000300559" "04214" "00408443" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301183" "04214" "00409068" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301184" "04214" "00409069" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301185" "04214" "00409070" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301186" "04214" "00409071" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301187" "04214" "00409072" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301188" "04214" "00409073" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301189" "04214" "00409074" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301190" "04214" "00409075" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301191" "04214" "00409076" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301192" "04214" "00409077" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301193" "04214" "00409078" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301194" "04214" "00409079" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301195" "04214" "00409080" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301196" "04214" "00409081" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301197" "04214" "00409082" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301198" "04214" "00409083" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301199" "04214" "00409084" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301200" "04214" "00409085" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301201" "04214" "00409086" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301202" "04214" "00409087" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301203" "04214" "00409088" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301204" "04214" "00409089" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301205" "04214" "00409090" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301206" "04214" "00409091" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301207" "04214" "00409092" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301208" "04214" "00409093" "00000" "Familial, autosomal recessive" "45y" "night blindness (20 y), field constriction (22 y), progressive loss of visual acuity (30 y), glare sensitivity, photopsia; best corrected visual acuity right-left eye: light perception-hand movements; refractive error: no data; visual field: absolute scotoma; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment normal, normal optic disc, narrowed vessels, moderate bone spicule hp in the mid periphery, in the far periphery intensive pigment clumping and round, well demarcated areas of chorioretinal atrophy; macular retinal pigment epithelium atrophy with annular hyperpigmentation right eye and pigment clumping left eye, right eye: chorioretinal scar after traumatic retinal detachment" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301209" "04214" "00409094" "00000" "Familial, autosomal recessive" "38y" "night blindness (23 y), field constriction (32 y), progressive loss of visual acuity (37 y), glare sensitivity, color deficiencies, photopsia; intellectual disability cone dystrophy; best corrected visual acuity right-left eye: hand movements-20/50; refractive error: +9.50/+11.0; visual field: concentric constriction and central scotoma with remaining peripheral islands; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: subcapsular cataract (bilateral), pale optic disc, narrowed vessels, well demarcated chorioretinal atrophy in the macula, single bone spicule hyperpigmentations in the mid periphery; round, well demarcated areas of chorioretinal atrophy and pigment clumping in the far periphery" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301210" "04214" "00409095" "00000" "Familial, autosomal recessive" "55y" "night blindness and glare sensitivity (30 y), field constriction (33 y), progressive loss of visual acuity (33 y) ; best corrected visual acuity right-left eye: no data; refractive error: no data; visual field: no data; electroretinogram: no data; anterior segment and fundus: no data" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301211" "04214" "00409096" "00000" "Familial, autosomal recessive" "37y" "progressive loss of visual acuity, color deficiencies, glare sensitivity (29 y); best corrected visual acuity right-left eye: 30/100-10/100; refractive error: +1.75/0; visual field: concentric constriction and central scotoma with small remaining central island right eye; remaining peripheral islands left eye; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment normal, slightly pale optic disc, narrowed vessels, sparse bone spicule hyperpigmentations in the mid periphery, well demarcated chorioretinal macular atrophy" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301212" "04214" "00409097" "00000" "Familial, autosomal recessive" "32y" "night blindness (21 y), field constriction (26 y), progressive loss of visual acuity (21 y), glare sensitivity, color deficiencies; best corrected visual acuity right-left eye: counting fingers-counting fingers; refractive error: Myopia +3 D; visual field: concentric constriction and central scotoma with remaining peripheral islands; electroretinogram: no data; anterior segment and fundus: anterior segment normal, normal optic disc, narrowed vessels, sparse bone spicule hyperpigmentations in the mid periphery; round, well demarcated, partly confluent areas of chorioretinal atrophy and pigment clumping in the far periphery; well demarcated macular retinal pigment epithelium atrophy with hyperpigmentation" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301213" "04214" "00409098" "00000" "Familial, autosomal recessive" "53y" "night blindness (30 y), field constriction (40 y), progressive loss of visual acuity (40 y); intellectual disability: retinitis pigmentosa; best corrected visual acuity right-left eye: light perception-light perception; refractive error: +2.0/+0.5; visual field: absolute scotoma; electroretinogram: no data; anterior segment and fundus: anterior segment normal, exotropia; glaucomatous excavation of the optic disc, narrowed vessels, well-demarcated chorioretinal atrophy in the macula, sparse bone spicules in the mid periphery; round, well-demarcated areas of chorioretinal atrophy and pe clumping in the periphery" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301214" "04214" "00409099" "00000" "Familial, autosomal recessive" "42y" "night blindness (16 y), field constriction (20 y), progressive loss of visual acuity (22 y), color deficiencies, glare sensitivity (22 y); intellectual disability: retinitis pigmentosa; best corrected visual acuity right-left eye: light perception-light perception; refractive error: +5.0/+5.0; visual field: absolute scotoma; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment: subcapsular cataract, exotropia, pale optic disc, narrowed vessels, dense bone spicule and spotty hyperpigmentations covering the entire retina, even within the vascular arcades, macular with dense hyperpigmentation and underlying chorioretinal atrophy" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301215" "04214" "00409100" "00000" "Familial, autosomal recessive" "43y" "progressive loss of visual acuity (13 y), field constriction (15 y), color deficiencies, glare sensitivity (20 y); intellectual disability: macular dystrophy; best corrected visual acuity right-left eye: light perception-light perception; refractive error: no data; visual field: absolute scotoma; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment: subcapsular cataract, exotropia right eye, traumatic iris defect and cataract left eye; fd: pale optic disc, narrowed vessels, dense bone spicule and spotty hyperpigmentations covering the entire retina even within the vascular arcades, macular with dense hyperpigmentation and underlying chorioretinal atrophy" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301216" "04214" "00409101" "00000" "Familial, autosomal recessive" "49y" "night blindness (34 y), field constriction (36 y), progressive loss of visual acuity (37 y), glare sensitivity (37 y); intellectual disability: retinitis pigmentosa; best corrected visual acuity right-left eye: 40/200-counting fingers; refractive error: +0.5+0.75; visual field: concentric constriction with remaining central island right eye; absolute scotoma left eye; electroretinogram: scotopic: not detectable; photopic: not detectable; anterior segment and fundus: anterior segment normal; slight pallor of the optic disc, narrowed vessels, well-demarcated polymorph chorioretinal atrophy in the macula, sparse bone spicules in the mid periphery, single round, well-demarcated areas of chorioretinal atrophy in the periphery" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301217" "04214" "00409102" "00000" "Familial, autosomal recessive" "29y" "perception of light; posterior subcapsular cataract; disc pallor and arterial attenuation; bone spicule pigmentation anterior and posterior to the equator with white dots in the outer retina anterior to the temporal vascular arcades" "<10y" "" "nyctalopia and loss of visual field" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301218" "04214" "00409103" "00000" "Familial, autosomal recessive" "36y" "perception of light; posterior subcapsular cataract; disc pallor and arterial attenuation; bone spicule pigmentation anterior and posterior to the equator with white dots in the outer retina anterior to the temporal vascular arcades" "<10y" "" "nyctalopia and loss of visual field" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301219" "04214" "00409104" "00000" "Familial, autosomal recessive" "42y" "no perception of light; posterior subcapsular cataract; disc pallor and arterial attenuation; bone spicule pigmentation anterior and posterior to the equator with white dots in the outer retina anterior to the temporal vascular arcades" "<10y" "" "nyctalopia and loss of visual field" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301232" "04214" "00409117" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right, left eye: 20/80, 20/80; refraction right/left eye: plano/ plano; kinetic visual field extent (percentage of the normal mean response right, left eye)(V-4e/I-4e): 81/47, 75/44" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301233" "04214" "00409118" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right, left eye: light perception, hand movement; refraction right/left eye: +2.5+4.00x180/ +2.5+4.00x180; kinetic visual field extent (percentage of the normal mean response right, left eye)(V-4e/I-4e): not detectable, 4/not detectable" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301234" "04214" "00409119" "00000" "Familial, autosomal recessive" "54y" "best corrected visual acuity right, left eye: 20/63, 20/50; refraction right/left eye: -3+0.50x180/ -2.5; kinetic visual field extent (percentage of the normal mean response right, left eye)(V-4e/I-4e): 67/16, 65/17" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301235" "04214" "00409120" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity right, left eye: 20/40, 20/50; refraction right/left eye: -0.25/ plano; kinetic visual field extent (percentage of the normal mean response right, left eye)(V-4e/I-4e): 40/not detectable, 34/not detectable" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301236" "04214" "00409121" "00000" "Familial, autosomal recessive" "28y" "best corrected visual acuity right, left eye: 20/25, 20/25; refraction right/left eye: -5.75 +1.50x095/ -4.25+1.50x085; kinetic visual field extent (percentage of the normal mean response right, left eye)(V-4e/I-4e): 85/8, 90/31" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301237" "04214" "00409122" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: 20/640, 20/1000; refraction right/left eye: +0.5+1.25x012/ - 0.25+2.00x160; kinetic visual field extent (percentage of the normal mean response right, left eye)(V-4e/I-4e): 21/not detectable, 11/not detectable" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301238" "04214" "00409123" "00000" "Familial, autosomal recessive" "21y" "Best-corrected visual acuity right, left eye: 20/40, 20/50; refraction: mild myopia; no nystagmus, strabismus, or anterior segment abnormality; retinal pigment epithelium (RPE) mottling/granularity, vascular attenuation, few bone spicules, macular RPE atrophic changes despite relatively preserved visual acuity; electroretinography: non-recordable, optical coherence tomography: retinal thinning, particularly of the outer nuclear layer in the fovea" "11y" "" "worsening night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301239" "04214" "00409124" "00000" "Familial, autosomal recessive" "27y" "Best-corrected visual acuity both eyes: 20/30; cycloplegic refraction: +0.50 diopters in both eyes; no nystagmus, strabismus, or anterior segment abnormality: retinal pigment epithelium (RPE) mottling/granularity, vascular attenuation, few bone spicules, macular RPE atrophic changes despite relatively preserved visual acuity; electroretinography: non-recordable, optical coherence tomography: retinal thinning, particularly of the outer nuclear layer in the fovea" "<5y" "" "worsening night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301314" "04214" "00409196" "00000" "Familial, autosomal recessive" "36y" "best corrected visual acuity right, left eye: 20/800, 20/800, maculopathy: well-delineated, intraretinal pigment: yes, lacunae: yes, cataract: no" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301315" "04214" "00409197" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity right, left eye: 20/50, 20/50, maculopathy: bull\'s-eye, intraretinal pigment: yes, lacunae: no, cataract: no" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301316" "04214" "00409198" "00000" "Familial, autosomal recessive" "22y" "best corrected visual acuity right, left eye: 20/50, 20/40, maculopathy: granular, intraretinal pigment: no, lacunae: no, cataract: no" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301317" "04214" "00409199" "00000" "Familial, autosomal recessive" "43y" "best corrected visual acuity right, left eye: 20/hand movement, 20/hand movement, maculopathy: well-delineated, intraretinal pigment: yes, lacunae: yes, cataract: posterior subcapsular" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301318" "04214" "00409200" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301319" "04214" "00409201" "00000" "Familial, autosomal recessive" "41y" "best corrected visual acuity right, left eye: hand movement, hand movement; full field electroretinogram: severely reduced; fundus left / right eye: classic triad with posterior vitreous detachment/ classic triad with posterior vitreous detachment; slit-lamp biomicroscopy: no cataract; optical coherence tomography right / left eye: normal central thickness with para-central atrophy, no cystoid macular edema, irregular vitreoretinal interface (epiretinal membrane)/ normal central thickness with para-central atrophy, no cystoid macular edema, smooth vitreoretinal interface; clinical keratoconus: topographic keratoconus" "17y" "" "decreased visual acuity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301320" "04214" "00409202" "00000" "Familial, autosomal recessive" "31y" "best corrected visual acuity right, left eye: counting fingers 0.5m, hand movement; full field electroretinogram: severely reduced; fundus left / right eye: classic triad/ classic triad; slit-lamp biomicroscopy: no cataract; optical coherence tomography right / left eye: central and para-central atrophy, no cystoid macular edema/ normal central thickness with para-central atrophy, no cystoid macular edema, irregular vitreoretinal interface (epiretinal membrane); clinical keratoconus: no topographic keratoconus" "15y" "" "decreased visual acuity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301321" "04214" "00409203" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity and refraction right, left eye: counting fingers 2.3 m/0.3, with (-4.00DS), counting fingers 1.5 m/0.125, with (-4.25DS); full field electroretinogram: severely reduced; fundus left / right eye: classic triad with posterior vitreous detachment/ classic triad with posterior vitreous detachment; slit-lamp biomicroscopy: no cataract; optical coherence tomography right / left eye: central and para-central atrophy, no cystoid macular edema/ central and para-central atrophy, no cystoid macular edema; clinical keratoconus: no topographic keratoc" "18y" "" "decreased visual acuity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301322" "04214" "00409204" "00000" "Familial, autosomal recessive" "40y" "best corrected visual acuity right, left eye: light perception, light perception; full field electroretinogram: severely reduced; fundus left / right eye: classic triad with partial posterior vitreous detachment/ classic triad with posterior vitreous detachment; slit-lamp biomicroscopy: no cataract; optical coherence tomography right / left eye: central and para-central atrophy, no cystoid macular edema, vitreoretinal adhesions/ central and para-central atrophy, no cystoid macular edema; clinical keratoconus: no topographic keratoconus" "15y" "" "nyctalopia" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000301323" "04214" "00409205" "00000" "Familial, autosomal recessive" "49y" "best corrected visual acuity right, left eye: hand movement, hand movement; full field electroretinogram: severely reduced; fundus left / right eye: not available/ not available; slit-lamp biomicroscopy: pscc; optical coherence tomography right / left eye: not available/ not available; clinical keratoconus: no topographic keratoconus" "12y" "" "decreased visual acuity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310976" "04214" "00419696" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000318079" "04214" "00426941" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000320626" "00112" "00429754" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320727" "00112" "00429855" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320758" "00112" "00429886" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320803" "00112" "00429931" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320834" "04210" "00429962" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320991" "00112" "00430119" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336191" "00198" "00446992" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336277" "00198" "00447078" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336297" "00198" "00447098" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336691" "00198" "00447492" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336725" "00198" "00447526" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000339822" "04249" "00450767" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339823" "04249" "00450768" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339824" "04249" "00450769" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339825" "04249" "00450770" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339826" "04249" "00450771" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339827" "04249" "00450772" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339828" "04249" "00450773" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339829" "04249" "00450774" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339830" "04249" "00450775" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000348602" "04214" "00461102" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000348632" "04214" "00461132" "00006" "Familial, autosomal recessive" "" "" "18y" "" "" "" "" "" "" "" "" "Stargardt disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 299 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058382" "00058419" "1" "00515" "00006" "2014-03-09 21:14:53" "00002" "2014-03-09 21:17:39" "SEQ;SEQ-NG" "DNA" "" "" "0000059774" "00059787" "1" "00039" "00039" "2012-09-18 13:02:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000100511" "00100107" "1" "01769" "01769" "2017-01-30 20:23:34" "" "" "SEQ" "DNA" "WBC" "" "0000100524" "00100120" "1" "01769" "01769" "2017-01-30 21:26:30" "" "" "SEQ" "DNA" "WBC" "" "0000105470" "00104997" "1" "01244" "01244" "2017-06-14 16:21:40" "" "" "SEQ-NG-I" "DNA" "Whole blood" "" "0000156279" "00155414" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156280" "00155415" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000174756" "00173866" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000233453" "00232354" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233454" "00232355" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233455" "00232356" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233456" "00232357" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233457" "00232358" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233458" 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"" "" "0000310180" "00309035" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310181" "00309036" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310182" "00309037" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310183" "00309038" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000326651" "00325440" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326653" "00325442" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326654" "00325443" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326726" "00325515" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329139" "00327924" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329165" "00327950" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329246" "00328031" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329285" "00328070" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329299" "00328084" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329355" "00328140" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329534" "00328319" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329702" "00328487" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000333192" "00331973" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333193" "00331974" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333700" "00332476" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333701" "00332477" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333702" "00332478" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333703" "00332479" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333704" "00332480" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333705" "00332481" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333706" "00332482" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333707" "00332483" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333708" "00332484" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333709" "00332485" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333710" "00332486" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000333711" "00332487" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000334591" "00333366" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334609" "00333384" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334614" "00333389" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000334622" "00333397" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel" "0000335123" "00333897" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335124" "00333898" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335148" "00333922" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335701" "00334472" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000335702" "00334473" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "" "0000335703" "00334474" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "" "0000335704" "00334475" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "" "0000336327" "00335098" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336494" "00335265" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336495" "00335266" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336496" "00335267" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336681" "00335452" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000337183" "00335953" "1" "00000" "00006" "2021-03-09 16:40:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000360243" "00359005" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360244" "00359006" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360269" "00359031" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360281" "00359043" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360285" "00359047" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360286" "00359048" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360347" "00359109" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360401" "00359163" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360428" "00359190" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360439" "00359201" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360443" "00359205" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360465" "00359227" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360467" "00359229" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360478" "00359240" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360481" "00359243" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363414" "00362185" "1" "00000" "00006" "2021-04-15 17:02:42" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364139" "00362911" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364158" "00362930" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364898" "00363670" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364912" "00363684" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373864" "00372632" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373865" "00372633" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373881" "00372649" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373897" "00372665" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373905" "00372673" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373947" "00372715" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375053" "00373821" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "arraySEQ" "DNA" "" "Asper" "0000375084" "00373852" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375085" "00373853" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000376097" "00374903" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376113" "00374919" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376607" "00375410" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377512" "00376316" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000377956" "00376750" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377957" "00376751" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377958" "00376752" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377966" "00376760" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377969" "00376763" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377989" "00376783" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378002" "00376796" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378075" "00376870" "1" "00000" "00006" "2021-06-25 17:40:07" "" "" "SEQ" "DNA" "" "WES" "0000378727" "00377524" "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" "0000379004" "00377800" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000379005" "00377801" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000379006" "00377802" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000379031" "00377827" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379032" "00377828" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379033" "00377829" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379034" "00377830" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379035" "00377831" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379036" "00377832" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379037" "00377833" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379038" "00377834" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379039" "00377835" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000380843" "00379644" "1" "03508" "03508" "2021-08-06 05:19:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000381020" "00379818" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000381334" "00380132" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381379" "00380177" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381384" "00380182" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381390" "00380188" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381410" "00380208" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381413" "00380211" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381582" "00380368" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000382273" "00381059" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000382372" "00381157" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382373" "00381158" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382446" "00381231" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000383110" "00381894" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383111" "00381895" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383463" "00382249" "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" "0000383464" "00382250" "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" "0000383731" "00382517" "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" "0000385093" "00383868" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000385094" "00383869" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000385132" "00383907" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385135" "00383910" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385136" "00383911" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385142" "00383917" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385158" "00383933" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385161" "00383936" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385170" "00383945" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385208" "00383983" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385215" "00383990" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385227" "00384002" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385228" "00384003" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385241" "00384016" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385248" "00384023" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385308" "00384083" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385318" "00384093" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385378" "00384153" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385386" "00384161" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385429" "00384204" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385441" "00384216" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385442" "00384217" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385505" "00384280" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385963" "00384737" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385964" "00384738" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000387434" "00386205" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387474" "00386245" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387494" "00386265" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387495" "00386266" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387975" "00386747" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388733" "00387507" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" "" "0000388737" "00387511" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" "" "0000388741" "00387515" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" "" "0000389520" "00388279" "1" "00000" "03840" "2021-11-03 14:53:28" "" "" "STR;SEQ" "DNA" "blood" "targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes" "0000389521" "00388280" "1" "00000" "03840" "2021-11-03 14:53:28" "" "" "STR;SEQ" "DNA" "blood" "targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes" "0000389522" "00388281" "1" "00000" "03840" "2021-11-03 14:53:28" "" "" "STR;SEQ" "DNA" "blood" "targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes" "0000389722" "00388481" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000389726" "00388485" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000389809" "00388567" "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" "0000390164" "00388921" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000390731" "00389488" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390916" "00389673" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390953" "00389710" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET1 targeted sequencing panel - see paper" "0000391051" "00389808" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391067" "00389824" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391115" "00389872" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391449" "00390208" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391450" "00390209" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391451" "00390210" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391452" "00390211" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391453" "00390212" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392392" "00391150" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392393" "00391151" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392394" "00391152" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392395" "00391153" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000394731" "00393483" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000394912" "00393664" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395033" "00393785" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395093" "00393845" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395166" "00393918" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395794" "00394547" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395795" "00394548" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397892" "00396649" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000409700" "00408443" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000410332" "00409068" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410333" "00409069" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410334" "00409070" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410335" "00409071" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410336" "00409072" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410337" "00409073" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410338" "00409074" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410339" "00409075" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410340" "00409076" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410341" "00409077" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410342" "00409078" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410343" "00409079" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410344" "00409080" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410345" "00409081" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410346" "00409082" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410347" "00409083" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410348" "00409084" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410349" "00409085" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410350" "00409086" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410351" "00409087" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410352" "00409088" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410353" "00409089" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410354" "00409090" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410355" "00409091" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410356" "00409092" "1" "00000" "03840" "2022-04-30 12:13:10" "" "" "SEQ" "DNA" "" "" "0000410357" "00409093" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410358" "00409094" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410359" "00409095" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410360" "00409096" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410361" "00409097" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410362" "00409098" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410363" "00409099" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410364" "00409100" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410365" "00409101" "1" "00000" "03840" "2022-04-30 20:17:24" "" "" "SEQ" "DNA" "" "" "0000410366" "00409102" "1" "00000" "03840" "2022-04-30 20:35:36" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410367" "00409103" "1" "00000" "03840" "2022-04-30 20:35:36" "" "" "RFLP" "DNA" "" "" "0000410368" "00409104" "1" "00000" "03840" "2022-04-30 20:35:36" "" "" "RFLP" "DNA" "" "" "0000410381" "00409117" "1" "00000" "03840" "2022-05-01 16:29:18" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410382" "00409118" "1" "00000" "03840" "2022-05-01 16:29:18" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410383" "00409119" "1" "00000" "03840" "2022-05-01 16:29:18" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410384" "00409120" "1" "00000" "03840" "2022-05-01 16:29:18" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410385" "00409121" "1" "00000" "03840" "2022-05-01 16:29:18" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410386" "00409122" "1" "00000" "03840" "2022-05-01 16:29:18" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410387" "00409123" "1" "00000" "03840" "2022-05-01 18:31:20" "" "" "?" "DNA" "" "" "0000410388" "00409124" "1" "00000" "03840" "2022-05-01 18:31:20" "" "" "?" "DNA" "" "" "0000410461" "00409196" "1" "00000" "03840" "2022-05-04 14:21:53" "" "" "SEQ-NG" "DNA" "" "whole-exome sequencing" "0000410462" "00409197" "1" "00000" "03840" "2022-05-04 14:21:53" "" "" "SEQ-NG" "DNA" "" "whole-exome sequencing" "0000410463" "00409198" "1" "00000" "03840" "2022-05-04 14:21:53" "" "" "SEQ-NG" "DNA" "" "whole-exome sequencing" "0000410464" "00409199" "1" "00000" "03840" "2022-05-04 14:21:53" "" "" "SEQ-NG" "DNA" "" "whole-exome sequencing" "0000410465" "00409200" "1" "00000" "03840" "2022-05-04 15:19:00" "" "" "SEQ-NG" "DNA" "blood" "whole-exome sequencing" "0000410466" "00409201" "1" "00000" "03840" "2022-05-04 15:19:00" "" "" "SEQ-NG" "DNA" "blood" "whole-exome sequencing" "0000410467" "00409202" "1" "00000" "03840" "2022-05-04 15:19:00" "" "" "SEQ-NG" "DNA" "blood" "whole-exome sequencing" "0000410468" "00409203" "1" "00000" "03840" "2022-05-04 15:19:00" "" "" "SEQ-NG" "DNA" "blood" "whole-exome sequencing" "0000410469" "00409204" "1" "00000" "03840" "2022-05-04 15:19:00" "" "" "SEQ-NG" "DNA" "blood" "whole-exome sequencing" "0000410470" "00409205" "1" "00000" "03840" "2022-05-04 15:19:00" "" "" "SEQ-NG" "DNA" "blood" "whole-exome sequencing" "0000421001" "00419696" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000428261" "00426941" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000431167" "00429754" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431268" "00429855" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431299" "00429886" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431344" "00429931" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431375" "00429962" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431532" "00430119" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000448569" "00446992" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448655" "00447078" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448675" "00447098" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449069" "00447492" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449103" "00447526" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452365" "00450767" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452366" "00450768" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452367" "00450769" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452368" "00450770" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452369" "00450771" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452370" "00450772" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452371" "00450773" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452372" "00450774" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452373" "00450775" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452648" "00451049" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452763" "00451164" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452818" "00451219" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000462734" "00461102" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000462764" "00461132" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 239 "{{screeningid}}" "{{geneid}}" "0000058382" "TTN" "0000059774" "CERKL" "0000100511" "CERKL" "0000100524" "CERKL" "0000156279" "CERKL" "0000156280" "CERKL" "0000174756" "MERTK" "0000233453" "CERKL" "0000233454" "CERKL" "0000233455" "CERKL" "0000233456" "CERKL" "0000233457" "CERKL" "0000233458" "CERKL" "0000233459" "CERKL" "0000233460" "CERKL" "0000233461" "CERKL" "0000233462" "CERKL" "0000233463" "CERKL" "0000233464" "CERKL" "0000233465" "CERKL" "0000233466" "CERKL" "0000234744" "CERKL" "0000234745" "CERKL" "0000234746" "CERKL" "0000241538" "CERKL" "0000241539" "CERKL" "0000241540" "CERKL" "0000309521" "CERKL" "0000309751" "CERKL" "0000310179" "CERKL" "0000310180" "CERKL" "0000310181" "CERKL" "0000310182" "CERKL" "0000310183" "CERKL" "0000326651" "CERKL" "0000326653" "CERKL" "0000326654" "CERKL" "0000326726" "CERKL" "0000329139" "CERKL" "0000329165" "CERKL" "0000329246" "CERKL" "0000329285" "CERKL" "0000329299" "CERKL" "0000329355" "CERKL" "0000329534" "CERKL" "0000329702" "CERKL" "0000333192" "CERKL" "0000333193" "CERKL" "0000333700" "CERKL" "0000333701" "CERKL" "0000333702" "CERKL" "0000333703" "CERKL" "0000333704" "CERKL" "0000333705" "CERKL" "0000333706" "CERKL" "0000333707" "CERKL" "0000333708" "CERKL" "0000333709" "CERKL" "0000333710" "CERKL" "0000333711" "CERKL" "0000334609" "PRPH2" "0000334614" "CERKL" "0000334622" "CERKL" "0000335123" "CERKL" "0000335124" "CERKL" "0000335148" "CERKL" "0000335701" "CERKL" "0000335702" "CERKL" "0000335703" "CERKL" "0000335704" "CERKL" "0000336327" "CERKL" "0000336494" "CERKL" "0000336495" "CERKL" "0000336496" "CERKL" "0000336681" "CERKL" "0000337183" "CERKL" "0000363414" "CERKL" "0000364139" "CERKL" "0000364158" "CERKL" "0000364898" "CERKL" "0000364912" "CERKL" "0000375053" "CERKL" "0000375084" "CERKL" "0000375085" "CERKL" "0000377512" "CERKL" "0000379004" "CERKL" "0000379005" "CERKL" "0000379006" "CERKL" "0000379031" "CERKL" "0000379032" "CERKL" "0000379033" "CERKL" "0000379034" "CERKL" "0000379035" "CERKL" "0000379036" "CERKL" "0000379037" "CERKL" "0000379038" "CERKL" "0000379039" "CERKL" "0000381020" "CERKL" "0000381379" "CERKL" "0000381384" "CERKL" "0000381390" "CERKL" "0000381410" "CERKL" "0000381413" "CERKL" "0000381582" "CERKL" "0000382273" "CERKL" "0000382372" "CERKL" "0000382373" "CERKL" "0000382446" "CERKL" "0000383110" "CERKL" "0000383111" "CERKL" "0000383463" "CERKL" "0000383464" "CERKL" "0000383731" "CERKL" "0000385093" "CERKL" "0000385094" "CERKL" "0000385132" "CERKL" "0000385135" "CERKL" "0000385136" "CERKL" "0000385142" "CERKL" "0000385158" "CERKL" "0000385161" "CERKL" "0000385170" "CERKL" "0000385208" "CERKL" "0000385215" "CERKL" "0000385227" "CERKL" "0000385228" "CERKL" "0000385241" "CERKL" "0000385248" "CERKL" "0000385308" "CERKL" "0000385318" "CERKL" "0000385378" "CERKL" "0000385386" "CERKL" "0000385429" "CERKL" "0000385441" "CERKL" "0000385442" "CERKL" "0000385505" "CERKL" "0000385963" "CERKL" "0000385964" "CERKL" "0000387434" "CERKL" "0000387474" "CERKL" "0000387494" "CERKL" "0000387495" "CERKL" "0000387975" "CERKL" "0000388733" "CERKL" "0000388737" "CERKL" "0000388741" "CERKL" "0000389520" "CERKL" "0000389521" "CERKL" "0000389522" "CERKL" "0000389722" "CERKL" "0000389726" "CERKL" "0000389809" "CERKL" "0000390164" "CERKL" "0000390731" "CERKL" "0000390916" "CERKL" "0000390953" "CERKL" "0000391051" "CERKL" "0000391067" "CERKL" "0000391115" "CERKL" "0000391449" "CERKL" "0000391450" "CERKL" "0000391451" "CERKL" "0000391452" "CERKL" "0000391453" "CERKL" "0000392392" "CERKL" "0000392393" "CERKL" "0000392394" "CERKL" "0000392395" "CERKL" "0000394731" "CERKL" "0000394912" "CERKL" "0000395033" "CERKL" "0000395093" "CERKL" "0000395166" "CERKL" "0000395794" "CERKL" "0000395795" "CERKL" "0000397892" "CRB1" "0000409700" "CERKL" "0000410332" "CERKL" "0000410333" "CERKL" "0000410334" "CERKL" "0000410335" "CERKL" "0000410336" "CERKL" "0000410337" "CERKL" "0000410338" "CERKL" "0000410339" "CERKL" "0000410340" "CERKL" "0000410341" "CERKL" "0000410342" "CERKL" "0000410343" "CERKL" "0000410344" "CERKL" "0000410345" "CERKL" "0000410346" "CERKL" "0000410347" "CERKL" "0000410348" "CERKL" "0000410349" "CERKL" "0000410350" "CERKL" "0000410351" "CERKL" "0000410352" "CERKL" "0000410353" "CERKL" "0000410354" "CERKL" "0000410355" "CERKL" "0000410356" "CERKL" "0000410357" "CERKL" "0000410358" "CERKL" "0000410359" "CERKL" "0000410360" "CERKL" "0000410361" "CERKL" "0000410362" "CERKL" "0000410363" "CERKL" "0000410364" "CERKL" "0000410365" "CERKL" "0000410366" "CERKL" "0000410367" "CERKL" "0000410368" "CERKL" "0000410381" "CERKL" "0000410382" "CERKL" "0000410383" "CERKL" "0000410384" "CERKL" "0000410385" "CERKL" "0000410386" "CERKL" "0000410387" "CERKL" "0000410388" "CERKL" "0000410461" "CERKL" "0000410462" "CERKL" "0000410463" "CERKL" "0000410464" "CERKL" "0000410465" "CERKL" "0000410466" "CERKL" "0000410467" "CERKL" "0000410468" "CERKL" "0000410469" "CERKL" "0000410470" "CERKL" "0000428261" "RPGR" "0000431167" "CERKL" "0000431268" "CERKL" "0000431299" "CERKL" "0000431344" "CERKL" "0000431375" "CERKL" "0000431532" "CERKL" ## 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 = 460 "{{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}}" "0000090890" "3" "90" "2" "182423379" "182423379" "subst" "0" "00039" "CERKL_000001" "g.182423379A>G" "" "{PMID:Abu-Safieh-2013:23105016}" "" "NM_201548.4:c.734T>C (p.Leu245Pro)" "" "Germline" "" "" "0" "" "" "g.181558652A>G" "" "pathogenic" "" "0000096175" "0" "50" "2" "182521804" "182521804" "subst" "0.000328505" "00006" "CERKL_000002" "g.182521804C>A" "" "{PMID:Pfeffer 2012:22577215}" "" "" "" "Germline" "no" "" "0" "" "" "g.181657077C>A" "" "VUS" "" "0000162810" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "01769" "CERKL_000003" "g.182423344G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000162823" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "01769" "CERKL_000003" "g.182423344G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000170889" "3" "50" "2" "182438478" "182438481" "del" "0" "01244" "CERKL_000004" "g.182438478_182438481del" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "" "" "0" "" "" "g.181573751_181573754del" "" "VUS" "ACMG" "0000245723" "0" "50" "2" "182468680" "182468680" "subst" "8.1678E-6" "02330" "CERKL_000018" "g.182468680A>C" "" "" "" "CERKL(NM_001030311.2):c.365T>G (p.L122R), CERKL(NM_001030311.3):c.365T>G (p.L122R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181603953A>C" "" "VUS" "" "0000245828" "0" "10" "2" "182413580" "182413580" "subst" "0.000203712" "02330" "CERKL_000011" "g.182413580A>G" "" "" "" "CERKL(NM_001030311.2):c.978T>C (p.H326=), CERKL(NM_001030311.3):c.978T>C (p.H326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181548853A>G" "" "benign" "" "0000245932" "0" "10" "2" "182413396" "182413396" "subst" "0.000435547" "02330" "CERKL_000009" "g.182413396A>G" "" "" "" "CERKL(NM_001030311.3):c.1151+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181548669A>G" "" "benign" "" "0000246091" "0" "50" "2" "182413597" "182413597" "subst" "6.1205E-5" "02330" "CERKL_000012" "g.182413597A>G" "" "" "" "CERKL(NM_001030311.3):c.974-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181548870A>G" "" "VUS" "" "0000248012" "0" "10" "2" "182413602" "182413602" "subst" "0.610966" "02325" "CERKL_000013" "g.182413602A>T" "" "" "" "CERKL(NM_001030311.2):c.974-18T>A, CERKL(NM_001030311.3):c.974-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181548875A>T" "" "benign" "" "0000248988" "0" "10" "2" "182413259" "182413259" "subst" "0.610146" "02325" "CERKL_000008" "g.182413259A>G" "" "" "" "CERKL(NM_001030311.3):c.1211+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181548532A>G" "" "benign" "" "0000253273" "0" "10" "2" "182413602" "182413602" "subst" "0.610966" "01943" "CERKL_000013" "g.182413602A>T" "" "" "" "CERKL(NM_001030311.2):c.974-18T>A, CERKL(NM_001030311.3):c.974-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181548875A>T" "" "benign" "" "0000255821" "0" "50" "2" "182468680" "182468680" "subst" "8.1678E-6" "01943" "CERKL_000018" "g.182468680A>C" "" "" "" "CERKL(NM_001030311.2):c.365T>G (p.L122R), CERKL(NM_001030311.3):c.365T>G (p.L122R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181603953A>C" "" "VUS" "" "0000264564" "0" "10" "2" "182521632" "182521632" "subst" "0.000307423" "02330" "CERKL_000023" "g.182521632C>A" "" "" "" "CERKL(NM_001030311.2):c.102G>T (p.T34=), CERKL(NM_001030311.3):c.102G>T (p.T34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181656905C>A" "" "benign" "" "0000264565" "0" "10" "2" "182521480" "182521480" "subst" "0.00139636" "02330" "CERKL_000021" "g.182521480G>C" "" "" "" "CERKL(NM_001030311.3):c.238+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181656753G>C" "" "benign" "" "0000264566" "0" "10" "2" "182468732" "182468732" "subst" "0.00203456" "02330" "CERKL_000019" "g.182468732G>A" "" "" "" "CERKL(NM_001030311.3):c.313C>T (p.R105W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181604005G>A" "" "benign" "" "0000264567" "0" "10" "2" "182521668" "182521668" "subst" "0.00600616" "02330" "CERKL_000024" "g.182521668G>C" "" "" "" "CERKL(NM_001030311.2):c.66C>G (p.P22=), CERKL(NM_001030311.3):c.66C>G (p.P22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181656941G>C" "" "benign" "" "0000264568" "0" "10" "2" "182430219" "182430219" "subst" "0.00201961" "02330" "CERKL_000017" "g.182430219C>A" "" "" "" "CERKL(NM_001030311.3):c.696G>T (p.L232F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181565492C>A" "" "benign" "" "0000264569" "0" "30" "2" "182423378" "182423378" "subst" "0.000684602" "02330" "CERKL_000016" "g.182423378C>G" "" "" "" "CERKL(NM_001030311.2):c.813G>C (p.L271=), CERKL(NM_001030311.3):c.813G>C (p.L271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181558651C>G" "" "likely benign" "" "0000264570" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "02330" "CERKL_000003" "g.182423344G>A" "" "" "" "CERKL(NM_001030311.2):c.847C>T (p.R283*), CERKL(NM_001030311.3):c.847C>T (p.R283*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000264571" "0" "30" "2" "182423284" "182423284" "subst" "0.00156321" "02330" "CERKL_000015" "g.182423284C>T" "" "" "" "CERKL(NM_001030311.2):c.898+9G>A, CERKL(NM_001030311.3):c.898+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181558557C>T" "" "likely benign" "" "0000266685" "0" "10" "2" "182521578" "182521578" "subst" "0.527532" "02325" "CERKL_000022" "g.182521578G>A" "" "" "" "CERKL(NM_001030311.3):c.156C>T (p.F52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181656851G>A" "" "benign" "" "0000266686" "0" "10" "2" "182403851" "182403851" "subst" "0.997976" "02325" "CERKL_000005" "g.182403851G>A" "" "" "" "CERKL(NM_001030311.3):c.1584C>T (p.D528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181539124G>A" "" "benign" "" "0000266687" "0" "10" "2" "182414358" "182414358" "subst" "0.137683" "02325" "CERKL_000014" "g.182414358T>C" "" "" "" "CERKL(NM_001030311.3):c.973+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181549631T>C" "" "benign" "" "0000273258" "0" "50" "2" "182413531" "182413531" "subst" "8.54743E-5" "01943" "CERKL_000010" "g.182413531G>A" "" "" "" "CERKL(NM_001030311.2):c.1027C>T (p.R343C), CERKL(NM_001030311.3):c.1027C>T (p.R343C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181548804G>A" "" "VUS" "" "0000273259" "0" "50" "2" "182409477" "182409477" "subst" "4.49905E-5" "01943" "CERKL_000007" "g.182409477G>A" "" "" "" "CERKL(NM_001030311.2):c.1393C>T (p.R465W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181544750G>A" "" "VUS" "" "0000273260" "0" "50" "2" "182409429" "182409429" "subst" "0" "01943" "CERKL_000006" "g.182409429G>T" "" "" "" "CERKL(NM_001030311.2):c.1441C>A (p.Q481K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181544702G>T" "" "VUS" "" "0000273261" "0" "50" "2" "182521717" "182521717" "subst" "0.00025651" "01943" "CERKL_000025" "g.182521717C>A" "" "" "" "CERKL(NM_001030311.2):c.17G>T (p.R6L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181656990C>A" "" "VUS" "" "0000273262" "0" "10" "2" "182468803" "182468803" "subst" "0.147898" "01943" "CERKL_000020" "g.182468803T>G" "" "" "" "CERKL(NM_001030311.2):c.242A>C (p.D81A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181604076T>G" "" "benign" "" "0000273263" "0" "30" "2" "182521668" "182521668" "subst" "0.00600616" "01943" "CERKL_000024" "g.182521668G>C" "" "" "" "CERKL(NM_001030311.2):c.66C>G (p.P22=), CERKL(NM_001030311.3):c.66C>G (p.P22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181656941G>C" "" "likely benign" "" "0000273264" "0" "30" "2" "182423378" "182423378" "subst" "0.000684602" "01943" "CERKL_000016" "g.182423378C>G" "" "" "" "CERKL(NM_001030311.2):c.813G>C (p.L271=), CERKL(NM_001030311.3):c.813G>C (p.L271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181558651C>G" "" "likely benign" "" "0000273265" "0" "30" "2" "182423284" "182423284" "subst" "0.00156321" "01943" "CERKL_000015" "g.182423284C>T" "" "" "" "CERKL(NM_001030311.2):c.898+9G>A, CERKL(NM_001030311.3):c.898+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181558557C>T" "" "likely benign" "" "0000337394" "0" "10" "2" "182414358" "182414358" "subst" "0.137683" "02327" "CERKL_000014" "g.182414358T>C" "" "" "" "CERKL(NM_001030311.3):c.973+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181549631T>C" "" "benign" "" "0000339576" "0" "10" "2" "182403851" "182403851" "subst" "0.997976" "02327" "CERKL_000005" "g.182403851G>A" "" "" "" "CERKL(NM_001030311.3):c.1584C>T (p.D528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181539124G>A" "" "benign" "" "0000342527" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "02327" "CERKL_000003" "g.182423344G>A" "" "" "" "CERKL(NM_001030311.2):c.847C>T (p.R283*), CERKL(NM_001030311.3):c.847C>T (p.R283*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000342684" "0" "50" "2" "182413531" "182413531" "subst" "8.54743E-5" "02327" "CERKL_000010" "g.182413531G>A" "" "" "" "CERKL(NM_001030311.2):c.1027C>T (p.R343C), CERKL(NM_001030311.3):c.1027C>T (p.R343C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181548804G>A" "" "VUS" "" "0000344193" "0" "10" "2" "182468803" "182468803" "subst" "0.147898" "02327" "CERKL_000020" "g.182468803T>G" "" "" "" "CERKL(NM_001030311.2):c.242A>C (p.D81A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181604076T>G" "" "benign" "" "0000346869" "0" "70" "2" "182468680" "182468680" "subst" "8.1678E-6" "02327" "CERKL_000018" "g.182468680A>C" "" "" "" "CERKL(NM_001030311.2):c.365T>G (p.L122R), CERKL(NM_001030311.3):c.365T>G (p.L122R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181603953A>C" "" "likely pathogenic" "" "0000350986" "0" "90" "2" "182468562" "182468562" "subst" "0" "02327" "CERKL_000026" "g.182468562A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181603835A>C" "" "pathogenic" "" "0000358201" "3" "90" "2" "182521495" "182521495" "subst" "9.26638E-6" "01243" "CERKL_000027" "g.182521495C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.181656768C>T" "" "pathogenic" "" "0000358202" "3" "90" "2" "182521495" "182521495" "subst" "9.26638E-6" "01243" "CERKL_000027" "g.182521495C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.181656768C>T" "" "pathogenic" "" "0000476161" "0" "50" "2" "182402915" "182402932" "dup" "0" "02591" "CERKL_000028" "g.182402915_182402932dup" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs771621589" "0" "" "" "g.181538188_181538205dup" "" "VUS" "" "0000476162" "0" "50" "2" "182403891" "182403891" "subst" "2.44157E-5" "02591" "CERKL_000029" "g.182403891G>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs768292284" "0" "" "" "g.181539164G>C" "" "VUS" "" "0000476163" "0" "50" "2" "182403908" "182403910" "del" "0" "02591" "CERKL_000030" "g.182403908_182403910del" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs750109553" "0" "" "" "g.181539181_181539183del" "" "VUS" "" "0000476164" "0" "50" "2" "182403915" "182403915" "subst" "4.06914E-6" "02591" "CERKL_000031" "g.182403915T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs753105205" "0" "" "" "g.181539188T>C" "" "VUS" "" "0000476165" "0" "50" "2" "182403964" "182403964" "subst" "0" "02591" "CERKL_000032" "g.182403964T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.181539237T>C" "" "VUS" "" "0000476166" "0" "50" "2" "182403987" "182403987" "subst" "8.1612E-6" "02591" "CERKL_000033" "g.182403987T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs772749822" "0" "" "" "g.181539260T>C" "" "VUS" "" "0000476167" "0" "50" "2" "182413278" "182413278" "subst" "0.000143142" "02591" "CERKL_000034" "g.182413278T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs746220721" "0" "" "" "g.181548551T>G" "" "VUS" "" "0000476168" "0" "10" "2" "182414358" "182414358" "subst" "0.137683" "02591" "CERKL_000014" "g.182414358T>C" "416/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs12623687" "0" "" "" "g.181549631T>C" "" "benign" "" "0000476169" "0" "50" "2" "182423343" "182423343" "subst" "1.62931E-5" "02591" "CERKL_000035" "g.182423343C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs762961333" "0" "" "" "g.181558616C>T" "" "VUS" "" "0000476170" "3" "90" "2" "182430822" "182430822" "del" "0" "02591" "CERKL_000036" "g.182430822del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.181566095del" "" "pathogenic" "" "0000476171" "0" "50" "2" "182430845" "182430845" "subst" "4.08383E-6" "02591" "CERKL_000037" "g.182430845A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs768703034" "0" "" "" "g.181566118A>G" "" "VUS" "" "0000476172" "0" "90" "2" "182468592" "182468592" "subst" "8.13855E-6" "02591" "CERKL_000038" "g.182468592C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs746595127" "0" "" "" "g.181603865C>T" "" "pathogenic" "" "0000476173" "0" "50" "2" "182468732" "182468732" "subst" "0.00203456" "02591" "CERKL_000019" "g.182468732G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs149078111" "0" "" "" "g.181604005G>A" "" "VUS" "" "0000476174" "0" "10" "2" "182468803" "182468803" "subst" "0.147898" "02591" "CERKL_000020" "g.182468803T>G" "422/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61750041" "0" "" "" "g.181604076T>G" "" "benign" "" "0000477452" "3" "10" "2" "182414358" "182414358" "subst" "0.137683" "02591" "CERKL_000014" "g.182414358T>C" "54/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs12623687" "0" "" "" "g.181549631T>C" "" "benign" "" "0000477453" "3" "90" "2" "182468592" "182468592" "subst" "8.13855E-6" "02591" "CERKL_000038" "g.182468592C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs746595127" "0" "" "" "g.181603865C>T" "" "pathogenic" "" "0000477454" "3" "10" "2" "182468803" "182468803" "subst" "0.147898" "02591" "CERKL_000020" "g.182468803T>G" "60/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61750041" "0" "" "" "g.181604076T>G" "" "benign" "" "0000487548" "3" "90" "2" "182402952" "182402955" "dup" "0" "03335" "CERKL_000039" "g.182402952_182402955dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.181538225_181538228dup" "" "pathogenic (recessive)" "" "0000487549" "0" "90" "2" "182413520" "182413527" "dup" "0" "03335" "CERKL_000040" "g.182413520_182413527dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.181548793_181548800dup" "" "pathogenic (recessive)" "" "0000487550" "0" "90" "2" "182468621" "182468624" "del" "0" "03335" "CERKL_000041" "g.182468621_182468624del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.181603894_181603897del" "" "pathogenic (recessive)" "" "0000513613" "0" "10" "2" "182403799" "182403799" "subst" "0.000557418" "02330" "CERKL_000042" "g.182403799G>A" "" "" "" "CERKL(NM_001030311.3):c.1616+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181539072G>A" "" "benign" "" "0000513614" "0" "70" "2" "182413406" "182413409" "del" "0" "02330" "CERKL_000043" "g.182413406_182413409del" "" "" "" "CERKL(NM_001030311.3):c.1151+3_1151+6delAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181548679_181548682del" "" "likely pathogenic" "" "0000513615" "0" "50" "2" "182413527" "182413527" "subst" "4.0701E-5" "01943" "CERKL_000044" "g.182413527A>G" "" "" "" "CERKL(NM_001030311.2):c.1031T>C (p.F344S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181548800A>G" "" "VUS" "" "0000513616" "0" "30" "2" "182414348" "182414348" "subst" "0.000134449" "02330" "CERKL_000045" "g.182414348G>A" "" "" "" "CERKL(NM_001030311.3):c.973+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181549621G>A" "" "likely benign" "" "0000513617" "0" "30" "2" "182423330" "182423330" "subst" "0.000329823" "02330" "CERKL_000046" "g.182423330A>G" "" "" "" "CERKL(NM_001030311.2):c.861T>C (p.P287=), CERKL(NM_001030311.3):c.861T>C (p.P287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181558603A>G" "" "likely benign" "" "0000513618" "0" "10" "2" "182430149" "182430157" "dup" "0" "02330" "CERKL_000047" "g.182430149_182430157dup" "" "" "" "CERKL(NM_001030311.3):c.755+5_755+13dupGTGATATAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181565422_181565430dup" "" "benign" "" "0000513619" "0" "10" "2" "182430207" "182430207" "subst" "0.00300816" "01943" "CERKL_000048" "g.182430207A>G" "" "" "" "CERKL(NM_001030311.2):c.708T>C (p.H236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181565480A>G" "" "benign" "" "0000513620" "0" "50" "2" "182468661" "182468661" "subst" "0" "01943" "CERKL_000049" "g.182468661C>A" "" "" "" "CERKL(NM_001030311.2):c.384G>T (p.K128N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181603934C>A" "" "VUS" "" "0000513621" "0" "10" "2" "182468818" "182468818" "subst" "0.138428" "01943" "CERKL_000050" "g.182468818A>T" "" "" "" "CERKL(NM_001030311.2):c.239-12T>A, CERKL(NM_001030311.3):c.239-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181604091A>T" "" "benign" "" "0000513622" "0" "10" "2" "182468818" "182468818" "subst" "0.138428" "02325" "CERKL_000050" "g.182468818A>T" "" "" "" "CERKL(NM_001030311.2):c.239-12T>A, CERKL(NM_001030311.3):c.239-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181604091A>T" "" "benign" "" "0000513623" "0" "50" "2" "182521577" "182521577" "subst" "0.00239844" "02330" "CERKL_000051" "g.182521577C>T" "" "" "" "CERKL(NM_001030311.2):c.157G>A (p.E53K), CERKL(NM_001030311.3):c.157G>A (p.E53K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181656850C>T" "" "VUS" "" "0000513624" "0" "30" "2" "182521577" "182521577" "subst" "0.00239844" "01943" "CERKL_000051" "g.182521577C>T" "" "" "" "CERKL(NM_001030311.2):c.157G>A (p.E53K), CERKL(NM_001030311.3):c.157G>A (p.E53K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181656850C>T" "" "likely benign" "" "0000513625" "0" "30" "2" "182521688" "182521688" "subst" "4.72438E-6" "01943" "CERKL_000052" "g.182521688C>G" "" "" "" "CERKL(NM_001030311.2):c.46G>C (p.G16R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181656961C>G" "" "likely benign" "" "0000513626" "0" "10" "2" "182521707" "182521707" "subst" "0.0015291" "02330" "CERKL_000053" "g.182521707C>T" "" "" "" "CERKL(NM_001030311.2):c.27G>A (p.R9=), CERKL(NM_001030311.3):c.27G>A (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181656980C>T" "" "benign" "" "0000607335" "0" "50" "2" "182403859" "182403859" "subst" "3.25256E-5" "01943" "CERKL_000055" "g.182403859C>T" "" "" "" "CERKL(NM_001030311.2):c.1576G>A (p.D526N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181539132C>T" "" "VUS" "" "0000607336" "0" "50" "2" "182521543" "182521543" "subst" "8.99866E-5" "01943" "CERKL_000056" "g.182521543C>T" "" "" "" "CERKL(NM_001030311.2):c.191G>A (p.S64N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181656816C>T" "" "VUS" "" "0000620897" "0" "30" "2" "182402914" "182402914" "subst" "2.04601E-5" "02330" "CERKL_000054" "g.182402914C>T" "" "" "" "CERKL(NM_001030311.3):c.1674G>A (p.K558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181538187C>T" "" "likely benign" "" "0000620898" "0" "30" "2" "182413580" "182413580" "subst" "0.000203712" "01943" "CERKL_000011" "g.182413580A>G" "" "" "" "CERKL(NM_001030311.2):c.978T>C (p.H326=), CERKL(NM_001030311.3):c.978T>C (p.H326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181548853A>G" "" "likely benign" "" "0000631918" "3" "70" "2" "182402973" "182402973" "subst" "0" "01807" "CERKL_000057" "g.182402973T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.181538246T>C" "" "likely pathogenic" "" "0000645465" "3" "90" "2" "182409429" "182409429" "subst" "4.14594E-6" "01807" "CERKL_000058" "g.182409429G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.181544702G>A" "" "pathogenic" "" "0000650358" "1" "90" "2" "182423344" "182423344" "subst" "0.000350337" "03575" "CERKL_000003" "g.182423344G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121909398.1}" "Germline" "" "rs121909398" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000654461" "0" "50" "2" "182413531" "182413531" "subst" "8.54743E-5" "02325" "CERKL_000010" "g.182413531G>A" "" "" "" "CERKL(NM_001030311.2):c.1027C>T (p.R343C), CERKL(NM_001030311.3):c.1027C>T (p.R343C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181548804G>A" "" "VUS" "" "0000676411" "0" "30" "2" "182423330" "182423330" "subst" "0.000329823" "01943" "CERKL_000046" "g.182423330A>G" "" "" "" "CERKL(NM_001030311.2):c.861T>C (p.P287=), CERKL(NM_001030311.3):c.861T>C (p.P287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676412" "0" "90" "2" "182521490" "182521504" "del" "0" "02327" "CERKL_000059" "g.182521490_182521504del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676413" "0" "30" "2" "182521707" "182521707" "subst" "0.0015291" "01943" "CERKL_000053" "g.182521707C>T" "" "" "" "CERKL(NM_001030311.2):c.27G>A (p.R9=), CERKL(NM_001030311.3):c.27G>A (p.R9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684386" "3" "70" "2" "182413468" "182413468" "subst" "1.22089E-5" "00004" "CERKL_000061" "g.182413468G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.181548741G>A" "" "likely pathogenic (recessive)" "" "0000684624" "3" "70" "2" "182402928" "182402943" "del" "0" "00004" "CERKL_000060" "g.182402928_182402943del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.181538201_181538216del" "" "likely pathogenic (recessive)" "" "0000685090" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00004" "CERKL_000003" "g.182423344G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685091" "0" "90" "2" "182468594" "182468595" "del" "0" "00004" "CERKL_000062" "g.182468594_182468595del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685092" "0" "90" "2" "182521495" "182521495" "subst" "9.26638E-6" "00004" "CERKL_000027" "g.182521495C>T" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685093" "0" "90" "2" "182521495" "182521495" "subst" "9.26638E-6" "00004" "CERKL_000027" "g.182521495C>T" "19/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685094" "0" "90" "2" "182521732" "182521732" "subst" "0" "00004" "CERKL_000063" "g.182521732A>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000688576" "0" "50" "2" "182396457" "182396457" "subst" "0.000859028" "01943" "CERKL_000064" "g.182396457C>A" "" "" "" "ITGA4(NM_000885.5):c.2738C>A (p.A913D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688577" "0" "30" "2" "182413278" "182413278" "subst" "0.000143142" "01943" "CERKL_000034" "g.182413278T>G" "" "" "" "CERKL(NM_001030311.2):c.1205A>C (p.Q402P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710243" "1" "90" "2" "182468621" "182468624" "del" "0" "00006" "CERKL_000041" "g.182468621_182468624del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "424_427delAATT" "ACMG PVS1, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.181603894_181603897del" "" "pathogenic" "ACMG" "0000710245" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00006" "CERKL_000003" "g.182423344G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000710246" "3" "90" "2" "182402952" "182402955" "dup" "0" "00006" "CERKL_000039" "g.182402952_182402955dup" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "1633_1636dupATCA" "ACMG PVS1, PM2, PP1, PP4" "Germline" "" "" "0" "" "" "g.181538225_181538228dup" "" "pathogenic" "ACMG" "0000710318" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00006" "CERKL_000003" "g.182423344G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000710341" "2" "90" "2" "182413520" "182413527" "dup" "0" "00006" "CERKL_000040" "g.182413520_182413527dup" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "1032_1039dupTGGGTTCT" "ACMG PVS1, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.181548793_181548800dup" "" "pathogenic" "ACMG" "0000713262" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Carss 2017:28041643}" "" "2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713288" "3" "90" "2" "182468729" "182468729" "subst" "5.31024E-5" "00000" "CERKL_000068" "g.182468729G>T" "" "{PMID:Carss 2017:28041643}" "" "2:182468729G>T ENST00000339098.5:c.316C>A (Arg106Ser)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713369" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Carss 2017:28041643}" "" "2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713408" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Carss 2017:28041643}" "" "2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713422" "3" "90" "2" "182413401" "182413404" "del" "0" "00000" "CERKL_000043" "g.182413401_182413404del" "" "{PMID:Carss 2017:28041643}" "" "2:182413400GACTT>G ENST00000339098.5:c.1151+3_1151+6delAAGT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713478" "0" "90" "2" "182409526" "182409526" "subst" "0" "00000" "CERKL_000065" "g.182409526G>C" "" "{PMID:Carss 2017:28041643}" "" "2:182409526G>C ENST00000339098.5:c.1347-3C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713657" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Carss 2017:28041643}" "" "2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713740" "0" "90" "2" "182438475" "182438476" "del" "8.16233E-6" "00000" "CERKL_000067" "g.182438475_182438476del" "" "{PMID:Carss 2017:28041643}" "" "2:182438474ACT>A ENST00000339098.5:c.613+4_613+5delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713799" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Carss 2017:28041643}" "" "2:182423344G>A ENST00000339098.5:c.847C>T (Arg283Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714059" "2" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic (recessive)" "" "0000714099" "1" "70" "2" "182423333" "182423333" "del" "2.03608E-5" "00000" "CERKL_000066" "g.182423333del" "" "{PMID:Taylor 2017:28341476}" "" "858delT" "" "Germline" "" "" "0" "" "" "g.181558606del" "" "likely pathogenic (recessive)" "" "0000730616" "1" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic 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"pathogenic (recessive)" "" "0000731510" "2" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic (recessive)" "" "0000732518" "0" "90" "2" "182438504" "182438504" "subst" "0.000183365" "00000" "CERKL_000077" "g.182438504C>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.181573777C>A" "" "pathogenic" "" "0000732546" "1" "90" "2" "182413512" "182413513" "del" "1.22096E-5" "00000" "CERKL_000076" "g.182413512_182413513del" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.181548785_181548786del" "" "pathogenic (recessive)" "" "0000732554" "3" "50" "2" "182468562" "182468562" "subst" "0" "00000" "CERKL_000026" "g.182468562A>C" "" "{PMID:Wang 2017:28838317}" "" "IVS2+2T>G" "" "Germline" "" "" "0" "" "" "g.181603835A>C" "" "VUS" "" "0000732588" "2" "70" "2" "182468729" "182468729" "subst" "5.31024E-5" "00000" "CERKL_000072" "g.182468729G>A" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.181604002G>A" "" "likely pathogenic" "" "0000732613" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "rs121909398" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000733132" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000733133" "1" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000733157" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000733582" "2" "70" "2" "182409489" "182409489" "subst" "0" "00000" "CERKL_000075" "g.182409489G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.181544762G>A" "" "likely pathogenic" "" "0000734419" "3" "90" "2" "182413270" "182413273" "" "0" "00000" "CERKL_000074" "g.182413270_182413273del" "" "{PMID:Habibi 2016:27874104}" "" "NM_201548.4:c.1133+3-1133+6delAAGT" "" "Germline" "" "" "0" "" "" "g.181548543_181548546del" "" "pathogenic (recessive)" "" "0000734420" "3" "90" "2" "182413270" "182413273" "" "0" "00000" "CERKL_000074" "g.182413270_182413273del" "" "{PMID:Habibi 2016:27874104}" "" "NM_201548.4:c.1133+3-1133+6delAAGT" "" "Germline" "" "" "0" "" "" "g.181548543_181548546del" "" "pathogenic (recessive)" "" "0000734421" "3" "90" "2" "182413270" "182413273" "" "0" "00000" "CERKL_000074" "g.182413270_182413273del" "" "{PMID:Habibi 2017:28471455}" "" "NM_201548.4:c.1133+3-1133+6delAAGT" "" "Germline" "" "" "0" "" "" "g.181548543_181548546del" "" "pathogenic (recessive)" "" "0000734422" "3" "90" "2" "182413270" "182413273" "" "0" "00000" "CERKL_000074" "g.182413270_182413273del" "" "{PMID:Habibi 2017:28471455}" "" "NM_201548.4:c.1133+3-1133+6delAAGT" "" "Germline" "" "" "0" "" "" "g.181548543_181548546del" "" "pathogenic (recessive)" "" "0000735602" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000735725" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000735890" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "02485" "CERKL_000003" "g.182423344G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "NM_201548.4:c.769C>T" "" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000735891" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "02485" "CERKL_000003" "g.182423344G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000735892" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "02485" "CERKL_000003" "g.182423344G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000736171" "3" "90" "2" "182413512" "182413513" "del" "1.22096E-5" "00000" "CERKL_000076" "g.182413512_182413513del" "" "{PMID:Biswas 2017:28130426}" "" "NM_201548.4:c.967_968delAT" "" "Germline" "" "rs750151209" "0" "" "" "g.181548785_181548786del" "" "pathogenic" "" "0000736807" "3" "70" "2" "182468680" "182468680" "subst" "8.1678E-6" "00000" "CERKL_000018" "g.182468680A>C" "" "{PMID:Roberts 2016:27898983}" "" "" "" "Germline" "" "" "0" "" "" "g.181603953A>C" "" "likely pathogenic (recessive)" "" "0000760135" "3" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760136" "3" "50" "2" "182413512" "182413513" "del" "1.22096E-5" "00000" "CERKL_000076" "g.182413512_182413513del" "" "{PMID:Ellingford 2016:27208204}" "" "1045_1046delAT" "" "Germline" "" "" "0" "" "" "g.181548785_181548786del" "" "VUS" "" "0000760161" "0" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760173" "0" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760177" "3" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760178" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000760239" "0" "70" "2" "182468729" "182468729" "subst" "5.31024E-5" "00000" "CERKL_000072" "g.182468729G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181604002G>A" "" "likely pathogenic" "" "0000760293" "0" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760320" "3" "50" "2" "182413512" "182413513" "del" "1.22096E-5" "00000" "CERKL_000076" "g.182413512_182413513del" "" "{PMID:Ellingford 2016:27208204}" "" "1045_1046delAT" "" "Germline" "" "" "0" "" "" "g.181548785_181548786del" "" "VUS" "" "0000760331" "3" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760335" "0" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760357" "3" "50" "2" "182521541" "182521541" "subst" "0.000142217" "00000" "CERKL_000073" "g.182521541C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181656814C>A" "" "VUS" "" "0000760359" "3" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760370" "3" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760373" "0" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760424" "0" "50" "2" "182521541" "182521541" "subst" "0.000142217" "00000" "CERKL_000073" "g.182521541C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181656814C>A" "" "VUS" "" "0000760432" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000760463" "0" "70" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181603943G>C" "" "likely pathogenic" "" "0000760485" "0" "50" "2" "182521541" "182521541" "subst" "0.000142217" "00000" "CERKL_000073" "g.182521541C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181656814C>A" "" "VUS" "" "0000760498" "0" "50" "2" "182521541" "182521541" "subst" "0.000142217" "00000" "CERKL_000073" "g.182521541C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181656814C>A" "" "VUS" "" "0000760513" "0" "50" "2" "182521541" "182521541" "subst" "0.000142217" "00000" "CERKL_000073" "g.182521541C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.181656814C>A" "" "VUS" "" "0000764052" "1" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000764078" "2" "70" "2" "182430798" "182430798" "subst" "4.0788E-6" "00000" "CERKL_000078" "g.182430798G>A" "" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Germline" "yes" "" "0" "" "" "g.181566071G>A" "" "likely pathogenic" "" "0000764901" "3" "70" "2" "182413468" "182413468" "subst" "1.22089E-5" "00000" "CERKL_000061" "g.182413468G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.181548741G>A" "" "likely pathogenic (recessive)" "" "0000764920" "1" "70" "2" "182468689" "182468689" "subst" "1.22602E-5" "00000" "CERKL_000080" "g.182468689C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "356C>T" "" "Germline" "" "" "0" "" "" "g.181603962C>T" "" "likely pathogenic (recessive)" "" "0000764940" "2" "70" "2" "182430200" "182430200" "subst" "0" "00000" "CERKL_000079" "g.182430200C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "R239*" "" "Germline" "" "" "0" "" "" "g.181565473C>T" "" "likely pathogenic (recessive)" "" "0000765840" "0" "70" "2" "182423301" "182423301" "subst" "0" "00000" "CERKL_000081" "g.182423301A>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.181558574A>G" "" "likely pathogenic" "" "0000765854" "0" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000784154" "0" "50" "2" "182468732" "182468732" "subst" "0.00203456" "00000" "CERKL_000019" "g.182468732G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs149078111" "0" "" "" "g.181604005G>A" "" "VUS" "" "0000784218" "1" "90" "2" "182468647" "182468647" "subst" "0" "00000" "CERKL_000082" "g.182468647A>G" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.181603920A>G" "" "pathogenic (recessive)" "" "0000784260" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_201548.4:c.1561_1564dup4 (Y504Sfs*19)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000784422" "0" "50" "2" "182468732" "182468732" "subst" "0.00203456" "00000" "CERKL_000019" "g.182468732G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs149078111" "0" "" "" "g.181604005G>A" "" "VUS" "" "0000784437" "0" "50" "2" "182468732" "182468732" "subst" "0.00203456" "00000" "CERKL_000019" "g.182468732G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs149078111" "0" "" "" "g.181604005G>A" "" "VUS" "" "0000784514" "0" "50" "2" "182468732" "182468732" "subst" "0.00203456" "00000" "CERKL_000019" "g.182468732G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs149078111" "0" "" "" "g.181604005G>A" "" "VUS" "" "0000784517" "0" "50" "2" "182468732" "182468732" "subst" "0.00203456" "00000" "CERKL_000019" "g.182468732G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs149078111" "0" "" "" "g.181604005G>A" "" "VUS" "" "0000784585" "2" "90" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Xu 2014:24938718}" "" "NM_201548.4:c.1031G>A (R344H)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000786314" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "769C>T (Arg257*)" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000786351" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000786352" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000787630" "1" "70" "2" "182468594" "182468594" "subst" "4.06994E-6" "00000" "CERKL_000085" "g.182468594A>C" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.181603867A>C" "" "likely pathogenic" "" "0000787646" "1" "70" "2" "182438546" "182438546" "subst" "0" "00000" "CERKL_000084" "g.182438546T>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.181573819T>A" "" "likely pathogenic" "" "0000787703" "2" "70" "2" "182423433" "182423433" "del" "0" "00000" "CERKL_000083" "g.182423433del" "" "0" "" "758delT" "" "Germline" "yes" "" "0" "" "" "g.181558706del" "" "likely pathogenic" "" "0000787708" "2" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "0" "" "1404delA" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000788335" "0" "50" "2" "182403891" "182403891" "subst" "2.44157E-5" "00000" "CERKL_000029" "g.182403891G>C" "" "{PMID:Katagiri 2014:25268133}" "" "C1544G" "" "Germline" "" "" "0" "" "" "g.181539164G>C" "" "VUS" "" "0000789874" "0" "50" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Avela 2019:31087526}" "" "c.375C>G" "Check also: Avela 2018" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790406" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_201548.4:c.812T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790407" "1" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_201548.4:c.598A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790408" "3" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_201548.4:c.1462G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790473" "2" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_201548.4:c.769C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790505" "1" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_201548.4:c.769C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790516" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_201548.4:c.1204G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790600" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_201548.4:c.1463A>G" "" "Germline" "" "rs35955809" "0" "" "" "" "" "VUS" "" "0000790641" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_201548.4:c.820+9G>A" "" "Germline" "" "rs189638090" "0" "" "" "" "" "VUS" "" "0000790744" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Coppieters 2014:24625443}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000791612" "0" "50" "2" "182409432" "182409432" "subst" "0" "00000" "CERKL_000086" "g.182409432T>A" "" "{PMID:Hosono 2018:29844330}" "" "c.1438A>T" "single heterozygous variant, probably not causative in the patient" "Germline" "no" "" "0" "" "" "g.181544705T>A" "" "VUS" "ACMG" "0000792024" "3" "90" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Littink 2010:20554613}" "" "c.375C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792025" "3" "90" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Littink 2010:20554613}" "" "c.375C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792026" "3" "50" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "not in 200 controls" "{PMID:Littink 2010:20554613}" "" "c.847C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000792066" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792067" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792068" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792069" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792070" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792071" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792072" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792073" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792074" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792075" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792076" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792077" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792078" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792079" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792080" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792081" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792082" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792083" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.769C>T (p.Arg257stop)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794052" "0" "70" "2" "182521577" "182521578" "ins" "0" "03508" "CERKL_000087" "g.182521577_182521578insA" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794053" "0" "70" "2" "182412406" "182412409" "dup" "0" "03508" "CERKL_000088" "g.182412406_182412409dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.181547679_181547682dup" "" "pathogenic" "ACMG" "0000794296" "3" "90" "2" "182403967" "182403970" "dup" "0" "00000" "CERKL_000089" "g.182403967_182403970dup" "" "{PMID:Wang 2018:30029497}" "" "NM_001030311.2:c.1467_1470dup, NP_001025482.1:p.(Thr491LeufsTer4), NC_000002.11:g.182403967_182403970dup" "" "Germline" "?" "" "0" "" "" "g.181539240_181539243dup" "" "pathogenic" "ACMG" "0000794735" "3" "90" "2" "182413559" "182413559" "subst" "8.14239E-6" "00000" "CERKL_000090" "g.182413559G>T" "" "{PMID:Patel 2018:30054919}" "" "NM_001030311.2:cc.999C>A; p.(Cys333*)" "" "Germline" "yes" "rs75523" "0" "" "" "g.181548832G>T" "" "pathogenic (recessive)" "ACMG" "0000794807" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001030311.2, c.847C>T, p.Arg283Ter" "" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000794813" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001030311.2, c.847C>T, p.Arg283Ter" "" "Germline" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000794814" "0" "70" "2" "182468689" "182468689" "subst" "1.22602E-5" "00000" "CERKL_000080" "g.182468689C>T" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001030311.2, c.356G>A, p.Gly119Asp" "" "Germline" "?" "" "0" "" "" "g.181603962C>T" "" "likely pathogenic" "" "0000794821" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001030311.2, c.847C>T, p.Arg283Ter" "" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000794850" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001030311.2, c.847C>T, p.Arg283Ter" "" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000794855" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001030311.2, c.847C>T, p.Arg283Ter" "" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000795060" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Khan-2013:23134348}" "" "c.847C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796017" "3" "90" "2" "182409466" "182409466" "del" "0" "00000" "SNRNP200_000007" "g.182409466delT" "" "{PMID:Fu-2013:23661369}" "" "c.1404delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796153" "0" "90" "2" "182423411" "182423411" "del" "0" "00000" "CERKL_000091" "g.182423411delA" "" "{PMID:Nishiguchi-2013:24043777}" "" "c.780delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796154" "0" "90" "2" "182438495" "182438495" "subst" "4.07651E-6" "00000" "CERKL_000093" "g.182438495T>A" "" "{PMID:Nishiguchi-2013:24043777}" "" "c.598A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796155" "0" "90" "2" "182423422" "182423422" "subst" "0" "00000" "CERKL_000092" "g.182423422G>A" "" "{PMID:Nishiguchi-2013:24043777}" "" "c.769C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796156" "0" "90" "2" "182468625" "182468625" "del" "0" "00000" "CERKL_000094" "g.182468625del" "" "{PMID:Nishiguchi-2013:24043777}" "" "c.420delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796270" "3" "90" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Wang-2013:23847139}" "" "c.375C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797102" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Birtel 2018:30543658}" "" "c.847C>T, p.Arg283*" "Heterozygous" "Germline" "yes" "rs886044730" "0" "" "" "g.181558617G>A" "" "pathogenic" "ACMG" "0000797103" "0" "90" "2" "182521542" "182521545" "dup" "0" "00000" "CERKL_000070" "g.182521542_182521545dup" "" "{PMID:Birtel 2018:30543658}" "" "c.197_200dupGAGC, p.Leu68Serfs*15" "Heterozygous" "Germline" "?" "" "0" "" "" "g.181656815_181656818dup" "" "pathogenic" "ACMG" "0000797169" "0" "50" "2" "182412577" "182412577" "subst" "0" "00000" "CERKL_000095" "g.182412577A>T" "" "{PMID:Birtel 2018:30543658}" "" "c.1212-3T>A, Splice" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.181547850A>T" "" "VUS" "ACMG" "0000797170" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Birtel 2018:30543658}" "" "deletion of exon 2" "Heterozygous" "Germline" "" "" "0" "" "" "g.?" "" "VUS" "ACMG" "0000797564" "3" "70" "2" "182468562" "182468562" "subst" "0" "00000" "CERKL_000026" "g.182468562A>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "CERKL c.481+2T>G, p.(?), c.481+2T>G, p.(?)" "homozygous" "Germline" "?" "" "0" "" "" "g.181603835A>C" "" "likely pathogenic" "ACMG" "0000797565" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CERKL c.772G>A, p.(Gly258Arg), c.847C>T, p.(Arg283*)" "" "Germline" "?" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "ACMG" "0000797566" "0" "70" "2" "182423419" "182423419" "subst" "0" "00000" "CERKL_000096" "g.182423419C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CERKL c.772G>A, p.(Gly258Arg), c.847C>T, p.(Arg283*)" "" "Germline" "?" "" "0" "" "" "g.181558692C>T" "" "likely pathogenic" "ACMG" "0000797973" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CERKL c.847C>T, p.(Arg283*)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "ACMG" "0000800210" "0" "30" "2" "182403834" "182403834" "subst" "0.000849545" "02327" "CERKL_000097" "g.182403834G>A" "" "" "" "CERKL(NM_001030311.3):c.1601C>T (p.S534L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800211" "0" "10" "2" "182413259" "182413259" "subst" "0.610146" "02327" "CERKL_000008" "g.182413259A>G" "" "" "" "CERKL(NM_001030311.3):c.1211+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800212" "0" "10" "2" "182413602" "182413602" "subst" "0.610966" "02327" "CERKL_000013" "g.182413602A>T" "" "" "" "CERKL(NM_001030311.2):c.974-18T>A, CERKL(NM_001030311.3):c.974-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800213" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "01943" "CERKL_000003" "g.182423344G>A" "" "" "" "CERKL(NM_001030311.2):c.847C>T (p.R283*), CERKL(NM_001030311.3):c.847C>T (p.R283*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800214" "0" "50" "2" "182468729" "182468729" "subst" "5.31024E-5" "02327" "CERKL_000068" "g.182468729G>T" "" "" "" "CERKL(NM_001030311.3):c.316C>A (p.R106S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800215" "0" "30" "2" "182468820" "182468820" "subst" "0" "02330" "CERKL_000098" "g.182468820A>T" "" "" "" "CERKL(NM_001030311.3):c.239-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800216" "0" "30" "2" "182521490" "182521490" "subst" "0" "01943" "CERKL_000099" "g.182521490A>G" "" "" "" "CERKL(NM_001030311.2):c.238+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800217" "0" "10" "2" "182521578" "182521578" "subst" "0.527532" "02327" "CERKL_000022" "g.182521578G>A" "" "" "" "CERKL(NM_001030311.3):c.156C>T (p.F52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800218" "0" "50" "2" "182521615" "182521617" "del" "0" "01943" "CERKL_000100" "g.182521615_182521617del" "" "" "" "CERKL(NM_001030311.2):c.119_121delAGG (p.E40del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800219" "0" "30" "2" "182521632" "182521632" "subst" "0.000307423" "01943" "CERKL_000023" "g.182521632C>A" "" "" "" "CERKL(NM_001030311.2):c.102G>T (p.T34=), CERKL(NM_001030311.3):c.102G>T (p.T34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811970" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "03840" "CERKL_000003" "g.182423344G>A" "" "{PMID:Wolock 2019:30926958}" "" "c.847C>T, r.(?)" "different transcript, ENST00000339098: homozygous" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000811971" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "03840" "CERKL_000003" "g.182423344G>A" "" "{PMID:Wolock 2019:30926958}" "" "c.847C>T, r.(?)" "different transcript, ENST00000339098: homozygous" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812010" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812013" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812014" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812024" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812050" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812054" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812068" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812129" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812140" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812161" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812162" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812182" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812194" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812290" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812304" "0" "70" "2" "182521552" "182521552" "subst" "4.24979E-6" "00000" "CERKL_000104" "g.182521552A>T" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.1 c.182T>A p.(Val61Glu), Ex.6 c.847C>T p.(Arg283*)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181656825A>T" "" "likely pathogenic" "" "0000812305" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.1 c.182T>A p.(Val61Glu), Ex.6 c.847C>T p.(Arg283*)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812410" "0" "70" "2" "182521552" "182521552" "subst" "4.24979E-6" "00000" "CERKL_000104" "g.182521552A>T" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.1 c.182T>A p.(Val61Glu), Ex.1 c.182T>A p.(Val61Glu), CRB1: Ex.7 c.2291G>A p.(Arg764His)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181656825A>T" "" "likely pathogenic" "" "0000812420" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CERKL Ex.6 c.847C>T p.(Arg283*), Ex.6 c.847C>T p.(Arg283*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812477" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Tayebi 2019:30820146}" "" "c.847C>T, p.(Arg283*)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000812490" "3" "70" "2" "182403981" "182403982" "ins" "0" "00000" "CERKL_000102" "g.182403981_182403982insT" "" "{PMID:Tayebi 2019:30820146}" "" "c.1453_1454insA, p.(Pro485Hisfs*4)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.181539254_181539255insT" "" "likely pathogenic" "" "0000812491" "3" "70" "2" "182403981" "182403982" "ins" "0" "00000" "CERKL_000102" "g.182403981_182403982insT" "" "{PMID:Tayebi 2019:30820146}" "" "c.1453_1454insA, p.(Pro485Hisfs*4)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.181539254_181539255insT" "" "likely pathogenic" "" "0000812574" "0" "70" "2" "182438596" "182438596" "subst" "8.15189E-6" "00000" "CERKL_000103" "g.182438596G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1483delT, p.(Val495*)" "error in annotation: c.497G>A instead of C>T, compound heterozygous" "Germline" "?" "" "0" "" "" "g.181573869G>A" "" "likely pathogenic" "" "0000812575" "0" "70" "2" "182403952" "182403952" "del" "0" "00000" "CERKL_000101" "g.182403952del" "" "{PMID:Wang 2019:31106028}" "" "c.497G>A, p.(Pro166Leu)" "error in annotation: c.1483del instead of c.1483delT, compound heterozygous" "Germline" "?" "" "0" "" "" "g.181539225del" "" "likely pathogenic" "" "0000813178" "3" "70" "2" "182423422" "182423422" "subst" "0" "00000" "CERKL_000092" "g.182423422G>A" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.769C.T" "C not found at position 870, found G instead." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813179" "3" "70" "2" "182423422" "182423422" "subst" "0" "00000" "CERKL_000092" "g.182423422G>A" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.769C.T" "C not found at position 870, found G instead." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000815318" "0" "50" "2" "182403834" "182403834" "subst" "0.000849545" "00000" "CERKL_000097" "g.182403834G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CERKL:NM_001030311 c.C1601T, p.S534L" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.181539107G>A" "" "VUS" "ACMG" "0000815358" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CERKL:NM_001030311 c.C847T, p.R283X" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "ACMG" "0000815378" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CERKL:NM_001030311 c.C847T, p.R283X" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "ACMG" "0000815379" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CERKL:NM_001030311 c.C847T, p.R283X" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "ACMG" "0000816133" "0" "90" "2" "182403895" "182403895" "subst" "4.06891E-6" "00000" "CERKL_000105" "g.182403895C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "CERKL c.1540G>T, p.Glu514Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181539168C>A" "" "pathogenic" "" "0000816446" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.847C>T, p.Arg283Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000817485" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Matsui 2015:26393467}" "" "p.R257X/p.C362X" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817486" "0" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Matsui 2015:26393467}" "" "p.R257X/p.C362X" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817490" "3" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Matsui 2015:26393467}" "" "p.R257X/p.R257X" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817494" "3" "50" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Matsui 2015:26393467}" "" "p.R257X/p.R257X" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000818606" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Nadeem 2020:32411380}" "" "c.847C>T in CERKL" "homozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000818607" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Nadeem 2020:32411380}" "" "c.847C>T in CERKL" "homozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000818608" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Nadeem 2020:32411380}" "" "c.847C>T in CERKL" "homozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000818948" "0" "70" "2" "182468563" "182521734" "del" "0" "00000" "CERKL_000106" "g.(182438612_182468563)_(182521734_?)del" "" "{PMID:Ellingford 2017:28378820}, {PMID:Ellingsford 2018:29074561}" "" "del ex1-2" "" "Germline" "" "" "0" "" "" "g.(181573885_181603836)_(181657007)del" "" "likely pathogenic" "" "0000818949" "0" "70" "2" "182409489" "182409489" "subst" "0" "00000" "CERKL_000075" "g.182409489G>A" "" "{PMID:Ellingsford 2018:29074561}" "" "c.1381C>T p.(Arg461Ter)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818956" "0" "70" "2" "182521495" "182521738" "del" "0" "00000" "CERKL_000107" "g.(182468807_182521495)_(182521738_?)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:182521491–182521738" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818957" "0" "70" "2" "182521494" "182521494" "subst" "0" "00000" "CERKL_000108" "g.182521494A>G" "" "{PMID:Ellingsford 2018:29074561}" "" "c.238+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000819068" "3" "70" "2" "182468689" "182468689" "subst" "1.22602E-5" "00000" "CERKL_000080" "g.182468689C>T" "" "{PMID:Dineiro 2020:32483926}" "" "CERKL c.356G>A, p.(Gly119Asp)" "homozygous" "Germline" "?" "" "0" "" "" "g.181603962C>T" "" "likely pathogenic" "ACMG" "0000819509" "1" "70" "2" "182412421" "182412421" "subst" "0" "00000" "CERKL_000112" "g.182412421G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.1270C>T/p.Q424*, variant 2: c.1270C>T/p.Q424*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.181547694G>A" "" "likely pathogenic" "" "0000820076" "1" "70" "2" "182402945" "182402964" "dup" "0" "00000" "CERKL_000109" "g.182402945_182402964dup" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.1624_1643dup/p.G549Qfs*14, variant 2: c.1624_1643dup/p.G549Qfs*14" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.181538218_181538237dup" "" "likely pathogenic" "" "0000820261" "1" "70" "2" "182413320" "182413321" "del" "0" "00000" "CERKL_000113" "g.182413320_182413321del" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.1164_1165del/p.C388*, variant 2: c.1381C>T/p.R461*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.181548593_181548594del" "" "likely pathogenic" "" "0000820298" "1" "70" "2" "182468562" "182468562" "subst" "0" "00000" "CERKL_000026" "g.182468562A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.481+2T>G/p.?, variant 2: c.481+2T>G/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.181603835A>C" "" "likely pathogenic" "" "0000820396" "1" "70" "2" "182413406" "182413409" "del" "0" "00000" "CERKL_000043" "g.182413406_182413409del" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.1151+3_1151+6del/p.?, variant 2: c.541_542delinsTT/p.E181L" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.181548679_181548682del" "" "likely pathogenic" "" "0000820412" "1" "70" "2" "182468562" "182468562" "subst" "0" "00000" "CERKL_000026" "g.182468562A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.481+2T>G/p.?, variant 2: c.1642T>G/p.Y548D" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.181603835A>C" "" "likely pathogenic" "" "0000820460" "1" "70" "2" "182413530" "182413530" "subst" "6.1053E-5" "00000" "CERKL_000114" "g.182413530C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.1028G>A/p.R343H, variant 2: c.1028G>A/p.R343H" "possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.181548803C>T" "" "likely pathogenic" "" "0000820852" "1" "70" "2" "182409489" "182409489" "subst" "0" "00000" "CERKL_000075" "g.182409489G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.1164_1165del/p.C388*, variant 2: c.1381C>T/p.R461*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.181544762G>A" "" "likely pathogenic" "" "0000820895" "1" "70" "2" "182438551" "182438552" "delins" "0" "00000" "CERKL_000115" "g.182438551_182438552delinsAA" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.1151+3_1151+6del/p.?, variant 2: c.541_542delinsTT/p.E181L" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.181573824_181573825delinsAA" "" "likely pathogenic" "" "0000820903" "1" "70" "2" "182402946" "182402946" "subst" "4.08787E-6" "00000" "CERKL_000110" "g.182402946A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "CERKL, variant 1: c.481+2T>G/p.?, variant 2: c.1642T>G/p.Y548D" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.181538219A>C" "" "likely pathogenic" "" "0000821198" "0" "70" "2" "182438475" "182438476" "del" "8.16233E-6" "00000" "CERKL_000067" "g.182438475_182438476del" "" "{PMID:Turro 2020:32581362}" "" "CERKL c.613+4_613+5delAG," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181573748_181573749del" "" "likely pathogenic" "" "0000821199" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Turro 2020:32581362}" "" "CERKL c.847C>T, p.Arg283Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000821200" "3" "70" "2" "182413406" "182413409" "del" "0" "00000" "CERKL_000043" "g.182413406_182413409del" "" "{PMID:Turro 2020:32581362}" "" "CERKL c.1151+3_1151+6delAAGT," "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181548679_181548682del" "" "likely pathogenic" "" "0000821201" "0" "70" "2" "182409526" "182409526" "subst" "0" "00000" "CERKL_000065" "g.182409526G>C" "" "{PMID:Turro 2020:32581362}" "" "CERKL c.1347-3C>G," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181544799G>C" "" "likely pathogenic" "" "0000821202" "3" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Turro 2020:32581362}" "" "CERKL c.847C>T, p.Arg283Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000821532" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Turro 2020:32581362}" "" "CERKL c.847C>T, p.Arg283Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "" "0000821533" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Turro 2020:32581362}" "" "CERKL c.847C>T, p.Arg283Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000821534" "0" "70" "2" "182379157" "182765581" "del" "0" "00000" "SNRNP200_000007" "g.182379157_182765581del" "" "{PMID:Turro 2020:32581362}" "" "chr2:g.182379157_182765581del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000822683" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Gliem 2020:32646556}" "" "CERKL c.847C>T c.1651A>T, p.Arg283* p.Ser551Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000822684" "0" "70" "2" "182521542" "182521545" "dup" "0" "00000" "CERKL_000070" "g.182521542_182521545dup" "" "{PMID:Gliem 2020:32646556}" "" "CERKL c.197_200dup whole-exon deletion, p.Leu68Serfs*15 putative loss of function" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181656815_181656818dup" "" "likely pathogenic" "" "0000822685" "0" "70" "2" "182468808" "182468808" "subst" "8.34899E-6" "00000" "CERKL_000116" "g.182468808T>C" "" "{PMID:Gliem 2020:32646556}" "" "CERKL c.239-2A>G splice site, c.1628_1632dup, p.Ile545Aspfs*13" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181604081T>C" "" "likely pathogenic" "" "0000822686" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Gliem 2020:32646556}" "" "CERKL c.847C>T c.1651A>T, p.Arg283* p.Ser551Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000822746" "0" "70" "2" "182402937" "182402937" "subst" "4.08654E-6" "00000" "CERKL_000069" "g.182402937T>A" "" "{PMID:Gliem 2020:32646556}" "" "CERKL c.847C>T c.1651A>T, p.Arg283* p.Ser551Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181538210T>A" "" "likely pathogenic" "" "0000822747" "0" "70" "2" "0" "0" "" "0" "00000" "SNRNP200_000007" "g.?" "" "{PMID:Gliem 2020:32646556}" "" "CERKL c.197_200dup whole-exon deletion, p.Leu68Serfs*15 putative loss of function" "heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000822748" "0" "70" "2" "182402956" "182402960" "dup" "0" "00000" "CERKL_000111" "g.182402956_182402960dup" "" "{PMID:Gliem 2020:32646556}" "" "CERKL c.239-2A>G c.1628_1632dup, splice site p.Ile545Aspfs*13" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181538229_181538233dup" "" "likely pathogenic" "" "0000822749" "0" "70" "2" "182402937" "182402937" "subst" "4.08654E-6" "00000" "CERKL_000069" "g.182402937T>A" "" "{PMID:Gliem 2020:32646556}" "" "CERKL c.847C>T c.1651A>T, p.Arg283* p.Ser551Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.181538210T>A" "" "likely pathogenic" "" "0000825729" "3" "70" "2" "182403965" "182403968" "dup" "4.07176E-6" "00000" "CERKL_000089" "g.182403965_182403968dup" "" "{PMID:Liu-2020:33090715}" "" "c.1467_1470dupTGCT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825999" "0" "70" "2" "182403867" "182403867" "subst" "4.06686E-6" "00000" "CERKL_000117" "g.182403867C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1568G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826000" "0" "70" "2" "182403953" "182403953" "del" "4.06987E-6" "00000" "CERKL_000118" "g.182403953del" "" "{PMID:Liu-2020:33090715}" "" "c.1482delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826194" "0" "70" "2" "182403953" "182403953" "del" "4.06987E-6" "00000" "CERKL_000118" "g.182403953del" "" "{PMID:Liu-2020:33090715}" "" "c.1482delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826195" "0" "70" "2" "182468808" "182468808" "subst" "8.34899E-6" "00000" "CERKL_000116" "g.182468808T>C" "" "{PMID:Liu-2020:33090715}" "" "c.239-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826285" "3" "70" "2" "182403953" "182403953" "del" "4.06987E-6" "00000" "CERKL_000118" "g.182403953del" "" "{PMID:Liu-2020:33090715}" "" "c.1482delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826401" "0" "70" "2" "182403953" "182403953" "del" "4.06987E-6" "00000" "CERKL_000118" "g.182403953del" "" "{PMID:Liu-2020:33090715}" "" "c.1482delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826402" "0" "70" "2" "182423402" "182423402" "subst" "0" "00000" "CERKL_000120" "g.182423402G>C" "" "{PMID:Liu-2020:33090715}" "" "c.789C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827197" "0" "90" "2" "182468711" "182468711" "subst" "4.08473E-6" "00000" "CERKL_000121" "g.182468711G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.334C>T" "" "Germline" "yes" "rs772748858" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827198" "0" "90" "2" "182412393" "182412394" "del" "0" "00000" "CERKL_000119" "g.182412393_182412394del" "" "{PMID:Colombo-2020:33576794}" "" "c.1297_1298del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000827199" "3" "50" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.847C>T" "" "Germline" "" "rs121909398" "0" "" "" "" "" "VUS" "" "0000829953" "3" "90" "2" "182430824" "182430824" "dup" "0" "00000" "CERKL_000122" "g.182430824dup" "" "{PMID:Numa-2020:33247286}" "" "c.638dupT:p.L213fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000846904" "0" "50" "2" "182468670" "182468670" "subst" "0.000935404" "00000" "CERKL_000071" "g.182468670G>C" "" "{PMID:Avela 2019:31087526}" "" "CERKL c.375C>G , p.(Cys125Trp)" "single heterozygous variant in a recessive disease" "Germline" "yes" "" "0" "" "" "g.181603943G>C" "" "VUS" "" "0000847610" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847611" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847612" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847613" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847614" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847615" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847616" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847617" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847618" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847619" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847620" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847621" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847622" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847623" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847624" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847625" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847626" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847627" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847628" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847629" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847630" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847631" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847632" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847633" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847634" "3" "70" "2" "182521495" "182521495" "subst" "9.26638E-6" "00000" "CERKL_000027" "g.182521495C>T" "" "{PMID:Auslender 2007:18055789}" "" "CERKL c.238+1G>A" "founder mutation; homozygous" "Germline" "yes" "" "0" "" "" "g.181656768C>T" "" "likely pathogenic" "" "0000847635" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847636" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847637" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847638" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847639" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847640" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847641" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847642" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847643" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Avila-Fernandez 2008:18515597}" "" "CERKL p.Arg257ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847644" "3" "70" "2" "182468729" "182468729" "subst" "5.31024E-5" "00000" "CERKL_000068" "g.182468729G>T" "" "{PMID:Ali 2008:18978954}" "" "CERKL p.(Arg106Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181604002G>T" "" "likely pathogenic" "" "0000847645" "3" "70" "2" "182468729" "182468729" "subst" "5.31024E-5" "00000" "CERKL_000068" "g.182468729G>T" "" "{PMID:Ali 2008:18978954}" "" "CERKL p.(Arg106Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181604002G>T" "" "likely pathogenic" "" "0000847646" "3" "70" "2" "182468729" "182468729" "subst" "5.31024E-5" "00000" "CERKL_000068" "g.182468729G>T" "" "{PMID:Ali 2008:18978954}" "" "CERKL p.(Arg106Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.181604002G>T" "" "likely pathogenic" "" "0000847663" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Aleman 2009:19578027}" "" "CERKL p.R257X" "different transcript: NM_201548.5(CERKL):c.769C>T; homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847664" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Aleman 2009:19578027}" "" "CERKL p.R257X" "different transcript: NM_201548.5(CERKL):c.769C>T; homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847665" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Aleman 2009:19578027}" "" "CERKL p.R257X" "different transcript: NM_201548.5(CERKL):c.769C>T; homozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847666" "0" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Aleman 2009:19578027}" "" "CERKL p.R257X" "different transcript: NM_201548.5(CERKL):c.769C>T; single heterozygous variant, no second allele found" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847667" "1" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Aleman 2009:19578027}" "" "CERKL p.R257X" "different transcript: NM_201548.5(CERKL):c.769C>T; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847668" "1" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Aleman 2009:19578027}" "" "CERKL p.R257X" "different transcript: NM_201548.5(CERKL):c.769C>T; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847669" "2" "70" "2" "182413320" "182413321" "del" "0" "00000" "CERKL_000113" "g.182413320_182413321del" "" "" "" "CERKL c.60_61delGT, p.C362X" "different transcript: NM_201548.5(CERKL):c.60_61delGT; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.181548593_181548594del" "" "likely pathogenic" "" "0000847670" "2" "70" "2" "182413320" "182413321" "del" "0" "00000" "CERKL_000113" "g.182413320_182413321del" "" "" "" "CERKL c.60_61delGT, p.C362X" "different transcript: NM_201548.5(CERKL):c.60_61delGT; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.181548593_181548594del" "" "likely pathogenic" "" "0000847671" "3" "70" "2" "182423379" "182423379" "subst" "0" "00000" "CERKL_000001" "g.182423379A>G" "" "{PMID:Khan 2015:24547929}" "" "CERKL c.734T>C; p.L245P" "different transcript: NM_201548.5(CERKL):c.769C>T; homozygous" "Germline" "yes" "" "0" "" "" "g.181558652A>G" "" "likely pathogenic" "" "0000847672" "3" "70" "2" "182413559" "182413559" "subst" "8.14239E-6" "00000" "CERKL_000090" "g.182413559G>T" "" "{PMID:Khan 2015:24547929}" "" "CERKL c.999C>A; p.C333*" "homozygous" "Germline" "yes" "" "0" "" "" "g.181548832G>T" "" "likely pathogenic" "" "0000847753" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Sengillo 2019:30696906}" "" "CERKL c.847 C > T (p.R283*)" "homozygous" "Germline" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847754" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Sengillo 2019:30696906}" "" "CERKL c.847 C > T (p.R283*)" "homozygous" "Germline" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847755" "3" "70" "2" "182409489" "182409489" "subst" "0" "00000" "CERKL_000075" "g.182409489G>A" "" "{PMID:Sengillo 2019:30696906}" "" "CERKL c.1303 C > T (p.R435*)" "different transcript: NM_201548.5:c.1303C>T, p.(Arg435*) = NM_001030311.2:c.1381C>T, p.(Arg461*); homozygous" "Germline" "?" "" "0" "" "" "g.181544762G>A" "" "likely pathogenic" "" "0000847756" "3" "70" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Sengillo 2019:30696906}" "" "CERKL c.769 C > T (p.R257*)" "error in annotation, c.769 C > T (p.R257*) mentioned as a different mutation in P3 than in P1 and P2; it is actually the same mutation but in a different transcript, different transcript: NM_201548.5(CERKL):c.769C>T = NM_001030311.2(CERKL):c.847C>T; homozygous" "Germline" "?" "" "0" "" "" "g.181558617G>A" "" "likely pathogenic" "" "0000847757" "3" "70" "2" "182413295" "182413296" "del" "0" "00000" "CERKL_000113" "g.182413295_182413296del" "" "{PMID:Azab 2019:30851774}" "" "CERKL c.1187_1188delTG; p.Cys362Ter" "error in annotation, c.1187_1188delTG is not causing p.Cys362Ter, c.1086_1087del is; different transcript: NM_201548.5(CERKL):c.1086_1087del; NM_001030311.2(CERKL):c.1164_1165del, p.(Cys388*); homozygous" "Germline" "yes" "" "0" "" "" "g.181548568_181548569del" "" "likely pathogenic" "" "0000847758" "3" "70" "2" "182413295" "182413296" "del" "0" "00000" "CERKL_000113" "g.182413295_182413296del" "" "{PMID:Azab 2019:30851774}" "" "CERKL c.1187_1188delTG; p.Cys362Ter" "error in annotation, c.1187_1188delTG is not causing p.Cys362Ter, c.1086_1087del is; different transcript: NM_201548.5(CERKL):c.1086_1087del; NM_001030311.2(CERKL):c.1164_1165del, p.(Cys388*); homozygous" "Germline" "yes" "" "0" "" "" "g.181548568_181548569del" "" "likely pathogenic" "" "0000847759" "3" "70" "2" "182413295" "182413296" "del" "0" "00000" "CERKL_000113" "g.182413295_182413296del" "" "{PMID:Azab 2019:30851774}" "" "CERKL c.1187_1188delTG; p.Cys362Ter" "error in annotation, c.1187_1188delTG is not causing p.Cys362Ter, c.1086_1087del is; different transcript: NM_201548.5(CERKL):c.1086_1087del; NM_001030311.2(CERKL):c.1164_1165del, p.(Cys388*); homozygous" "Germline" "yes" "" "0" "" "" "g.181548568_181548569del" "" "likely pathogenic" "" "0000847760" "3" "70" "2" "182413295" "182413296" "del" "0" "00000" "CERKL_000113" "g.182413295_182413296del" "" "{PMID:Azab 2019:30851774}" "" "CERKL c.1187_1188delTG; p.Cys362Ter" "error in annotation, c.1187_1188delTG is not causing p.Cys362Ter, c.1086_1087del is; different transcript: NM_201548.5(CERKL):c.1086_1087del; NM_001030311.2(CERKL):c.1164_1165del, p.(Cys388*); homozygous" "Germline" "yes" "" "0" "" "" "g.181548568_181548569del" "" "likely pathogenic" "" "0000847761" "3" "70" "2" "182413295" "182413296" "del" "0" "00000" "CERKL_000113" "g.182413295_182413296del" "" "{PMID:Azab 2019:30851774}" "" "CERKL c.1187_1188delTG; p.Cys362Ter" "error in annotation, c.1187_1188delTG is not causing p.Cys362Ter, c.1086_1087del is; different transcript: NM_201548.5(CERKL):c.1086_1087del; NM_001030311.2(CERKL):c.1164_1165del, p.(Cys388*); homozygous" "Germline" "yes" "" "0" "" "" "g.181548568_181548569del" "" "likely pathogenic" "" "0000847762" "3" "70" "2" "182468596" "182468597" "del" "0" "00000" "CERKL_000062" "g.182468596_182468597del" "" "{PMID:Azab 2019:30851774}" "" "CERKL c.450_451delAT; p.Ile150MetfsTer3" "homozygous" "Germline" "yes" "" "0" "" "" "g.181603869_181603870del" "" "likely pathogenic" "" "0000849613" "0" "50" "2" "182403885" "182403885" "subst" "0" "01943" "CERKL_000123" "g.182403885G>A" "" "" "" "CERKL(NM_001030311.2):c.1550C>T (p.S517L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849614" "0" "50" "2" "182414387" "182414387" "subst" "8.14352E-6" "01943" "CERKL_000124" "g.182414387A>G" "" "" "" "CERKL(NM_001030311.2):c.947T>C (p.I316T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858205" "0" "90" "2" "182409489" "182409489" "subst" "0" "02330" "CERKL_000075" "g.182409489G>A" "" "" "" "CERKL(NM_001030311.3):c.1381C>T (p.R461*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858206" "0" "70" "2" "182468729" "182468729" "subst" "5.31024E-5" "02330" "CERKL_000068" "g.182468729G>T" "" "" "" "CERKL(NM_001030311.3):c.316C>A (p.R106S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000881419" "3" "70" "2" "182402948" "182402948" "dup" "0" "04405" "CERKL_000125" "g.182402948dup" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.181538221dup" "" "likely pathogenic" "ACMG" "0000884624" "0" "50" "2" "182403834" "182403834" "subst" "0.000849545" "02325" "CERKL_000097" "g.182403834G>A" "" "" "" "CERKL(NM_001030311.3):c.1601C>T (p.S534L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884625" "0" "30" "2" "182404008" "182404011" "dup" "0" "02330" "CERKL_000126" "g.182404008_182404011dup" "" "" "" "CERKL(NM_001030311.3):c.1444-18_1444-15dupATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884626" "0" "30" "2" "182438460" "182438460" "subst" "3.6924E-5" "02330" "CERKL_000127" "g.182438460A>G" "" "" "" "CERKL(NM_001030311.3):c.613+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905961" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00000" "CERKL_000003" "g.182423344G>A" "" "{PMID:Zhu 2022:35456422}" "" "CERKL c.847C>T, p.(Arg283*)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "ACMG" "0000911480" "0" "10" "2" "182468818" "182468818" "subst" "0.138428" "02327" "CERKL_000050" "g.182468818A>T" "" "" "" "CERKL(NM_001030311.2):c.239-12T>A, CERKL(NM_001030311.3):c.239-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000916166" "1" "90" "2" "182468562" "182468562" "subst" "0" "04436" "CERKL_000026" "g.182468562A>C" "" "{PMID:Panneman 2023:36819107}" "" "c.481+2T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916167" "2" "50" "2" "182438485" "182438485" "subst" "0" "04436" "CERKL_000128" "g.182438485A>C" "" "{PMID:Panneman 2023:36819107}" "" "c.608T>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916332" "1" "70" "2" "182468615" "182468619" "del" "4.07229E-6" "04436" "CERKL_000129" "g.182468615_182468619del" "" "{PMID:Panneman 2023:36819107}" "" "c.426_430del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916333" "2" "90" "2" "182423344" "182423344" "subst" "0.000350337" "04436" "CERKL_000003" "g.182423344G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.847C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916380" "1" "50" "2" "182413527" "182413527" "subst" "4.0701E-5" "04436" "CERKL_000044" "g.182413527A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.1031T>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916381" "2" "50" "2" "182413531" "182413531" "subst" "8.54743E-5" "04436" "CERKL_000010" "g.182413531G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1027C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916446" "3" "90" "2" "182402956" "182402960" "dup" "0" "04436" "CERKL_000111" "g.182402956_182402960dup" "" "{PMID:Panneman 2023:36819107}" "" "c.1628_1632dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916495" "3" "90" "2" "182521483" "182521497" "del" "2.46936E-5" "04436" "CERKL_000059" "g.182521483_182521497del" "" "{PMID:Panneman 2023:36819107}" "" "c.237_238+13del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916734" "1" "70" "2" "182468774" "182468774" "subst" "8.17922E-6" "04436" "CERKL_000130" "g.182468774C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.271G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916735" "2" "90" "2" "182423344" "182423344" "subst" "0.000350337" "04436" "CERKL_000003" "g.182423344G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.847C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000923529" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "02329" "CERKL_000003" "g.182423344G>A" "" "" "" "CERKL(NM_001030311.2):c.847C>T (p.R283*), CERKL(NM_001030311.3):c.847C>T (p.R283*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947641" "0" "30" "2" "182438630" "182438630" "subst" "0" "02330" "CERKL_000131" "g.182438630G>T" "" "" "" "CERKL(NM_001030311.3):c.482-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947642" "0" "30" "2" "182521527" "182521527" "subst" "4.35271E-6" "02330" "CERKL_000132" "g.182521527C>T" "" "" "" "CERKL(NM_001030311.3):c.207G>A (p.R69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958055" "0" "90" "2" "182402973" "182402973" "subst" "0" "00006" "CERKL_000057" "g.182402973T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.181538246T>C" "" "pathogenic (recessive)" "ACMG" "0000958141" "3" "90" "2" "182409429" "182409429" "subst" "4.14594E-6" "00006" "CERKL_000058" "g.182409429G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.181544702G>A" "" "pathogenic (recessive)" "ACMG" "0000958161" "0" "90" "2" "182409489" "182409489" "subst" "0" "00006" "CERKL_000075" "g.182409489G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.181544762G>A" "" "pathogenic (recessive)" "ACMG" "0000958506" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00006" "CERKL_000003" "g.182423344G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.181558617G>A" "424768" "pathogenic (recessive)" "ACMG" "0000959265" "0" "90" "2" "182423344" "182423344" "subst" "0.000350337" "00006" "CERKL_000003" "g.182423344G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic (recessive)" "ACMG" "0000959308" "0" "70" "2" "182402969" "182402972" "dup" "0" "00006" "CERKL_000133" "g.182402969_182402972dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "g.181538242_181538245dup" "" "likely pathogenic (recessive)" "ACMG" "0000986348" "1" "70" "2" "182403946" "182403947" "delins" "0" "04405" "CERKL_000135" "g.182403946_182403947delinsA" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181539219_181539220delinsA" "" "likely pathogenic" "ACMG" "0000986349" "1" "70" "2" "182468765" "182468765" "subst" "0" "04405" "CERKL_000137" "g.182468765C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181604038C>A" "" "likely pathogenic" "ACMG" "0000986350" "1" "70" "2" "182402948" "182402957" "del" "0" "04405" "CERKL_000134" "g.182402948_182402957del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181538221_181538230del" "" "likely pathogenic" "ACMG" "0000986351" "1" "50" "2" "182521580" "182521580" "subst" "0" "04405" "CERKL_000139" "g.182521580A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[154T>C;158A>C]" "" "Germline" "" "" "0" "" "" "g.181656853A>G" "" "VUS" "ACMG" "0000986352" "1" "70" "2" "182468729" "182468729" "subst" "5.31024E-5" "04405" "CERKL_000072" "g.182468729G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181604002G>A" "" "likely pathogenic" "ACMG" "0000986353" "1" "90" "2" "182423344" "182423344" "subst" "0.000350337" "04405" "CERKL_000003" "g.182423344G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "ACMG" "0000986354" "1" "90" "2" "182521495" "182521495" "subst" "9.26638E-6" "04405" "CERKL_000027" "g.182521495C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181656768C>T" "" "pathogenic" "ACMG" "0000986355" "3" "90" "2" "182468596" "182468597" "del" "0" "04405" "CERKL_000062" "g.182468596_182468597del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181603869_181603870del" "" "pathogenic" "ACMG" "0000986356" "1" "70" "2" "182468680" "182468680" "subst" "8.1678E-6" "04405" "CERKL_000018" "g.182468680A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181603953A>C" "" "likely pathogenic" "ACMG" "0000986888" "2" "70" "2" "182468563" "182521495" "del" "0" "04405" "SNRNP200_000007" "g.(182521495_182468807)_(182468563_182438612)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000986889" "2" "90" "2" "182468562" "182468562" "subst" "0" "04405" "CERKL_000026" "g.182468562A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181603835A>C" "" "pathogenic" "ACMG" "0000986890" "2" "50" "2" "182438581" "182438581" "subst" "0" "04405" "CERKL_000136" "g.182438581A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181573854A>G" "" "VUS" "ACMG" "0000986891" "1" "50" "2" "182521576" "182521576" "subst" "0" "04405" "CERKL_000138" "g.182521576T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[154T>C;158A>C]" "" "Germline" "" "" "0" "" "" "g.181656849T>G" "" "VUS" "ACMG" "0000986892" "2" "90" "2" "182423344" "182423344" "subst" "0.000350337" "04405" "CERKL_000003" "g.182423344G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181558617G>A" "" "pathogenic" "ACMG" "0000986893" "2" "50" "2" "182413530" "182413530" "subst" "6.1053E-5" "04405" "CERKL_000114" "g.182413530C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181548803C>T" "" "VUS" "ACMG" "0000986894" "2" "50" "2" "182413531" "182413531" "subst" "8.54743E-5" "04405" "CERKL_000010" "g.182413531G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181548804G>A" "" "VUS" "ACMG" "0000986895" "2" "50" "2" "182403859" "182403859" "subst" "3.25256E-5" "04405" "CERKL_000055" "g.182403859C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "1498G>A (Asp500Asn)" "" "Germline" "" "" "0" "" "" "g.181539132C>T" "" "VUS" "ACMG" "0000986896" "2" "50" "2" "182413527" "182413527" "subst" "4.0701E-5" "04405" "CERKL_000044" "g.182413527A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.181548800A>G" "" "VUS" "ACMG" "0000986993" "0" "90" "2" "182413468" "182413468" "subst" "1.22089E-5" "00006" "CERKL_000061" "g.182413468G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.181548741G>A" "" "pathogenic" "ACMG" "0000987108" "0" "90" "2" "182402946" "182402946" "subst" "4.08787E-6" "00006" "CERKL_000110" "g.182402946A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.181538219A>C" "" "pathogenic" "ACMG" "0000987163" "0" "90" "2" "182521732" "182521732" "subst" "0" "00006" "CERKL_000063" "g.182521732A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.181657005A>C" "" "pathogenic" "ACMG" "0001022285" "3" "70" "2" "182468680" "182468680" "subst" "8.1678E-6" "00006" "CERKL_000018" "g.182468680A>C" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs558913945" "0" "" "" "g.181603953A>C" "" "likely pathogenic" "" "0001022315" "3" "70" "2" "182468680" "182468680" "subst" "8.1678E-6" "00006" "CERKL_000018" "g.182468680A>C" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs558913945" "0" "" "" "g.181603953A>C" "" "likely pathogenic" "" "0001045786" "0" "50" "2" "182414384" "182414384" "subst" "0" "02327" "CERKL_000140" "g.182414384G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045787" "0" "90" "2" "182430784" "182430784" "subst" "0" "02327" "CERKL_000141" "g.182430784C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045788" "0" "70" "2" "182521733" "182521733" "subst" "0" "02327" "CERKL_000142" "g.182521733T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 CERKL ## Count = 663 "{{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}}" "0000090890" "00005010" "90" "812" "0" "812" "0" "c.812T>C" "r.(?)" "p.(Leu271Pro)" "6" "0000096175" "00005010" "50" "-71" "0" "-71" "0" "c.-71G>T" "r.(?)" "p.(=)" "" "0000162810" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000162823" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000170889" "00005010" "50" "613" "5" "613" "8" "c.613+5_613+8del" "r.spl?" "p.?" "3i" "0000245723" "00005010" "50" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0000245723" "00025854" "50" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0000245828" "00005010" "10" "978" "0" "978" "0" "c.978T>C" "r.(?)" "p.(His326=)" "" "0000245828" "00025854" "10" "900" "0" "900" "0" "c.900T>C" "r.(?)" "p.(His300=)" "" "0000245932" "00005010" "10" "1151" "11" "1151" "11" "c.1151+11T>C" "r.(=)" "p.(=)" "" "0000245932" "00025854" "10" "1073" "11" "1073" "11" "c.1073+11T>C" "r.(=)" "p.(=)" "" "0000246091" "00005010" "50" "974" "-13" "974" "-13" "c.974-13T>C" "r.(=)" "p.(=)" "" "0000246091" "00025854" "50" "896" "-13" "896" "-13" "c.896-13T>C" "r.(=)" "p.(=)" "" "0000248012" "00005010" "10" "974" "-18" "974" "-18" "c.974-18T>A" "r.(=)" "p.(=)" "" "0000248012" "00025854" "10" "896" "-18" "896" "-18" "c.896-18T>A" "r.(=)" "p.(=)" "" "0000248988" "00005010" "10" "1211" "13" "1211" "13" "c.1211+13T>C" "r.(=)" "p.(=)" "" "0000248988" "00025854" "10" "1133" "13" "1133" "13" "c.1133+13T>C" "r.(=)" "p.(=)" "" "0000253273" "00005010" "10" "974" "-18" "974" "-18" "c.974-18T>A" "r.(=)" "p.(=)" "" "0000253273" "00025854" "10" "896" "-18" "896" "-18" "c.896-18T>A" "r.(=)" "p.(=)" "" "0000255821" "00005010" "50" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0000255821" "00025854" "50" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0000264564" "00005010" "10" "102" "0" "102" "0" "c.102G>T" "r.(?)" "p.(Thr34=)" "" "0000264564" "00025854" "10" "102" "0" "102" "0" "c.102G>T" "r.(?)" "p.(Thr34=)" "" "0000264565" "00005010" "10" "238" "16" "238" "16" "c.238+16C>G" "r.(=)" "p.(=)" "" "0000264565" "00025854" "10" "238" "16" "238" "16" "c.238+16C>G" "r.(=)" "p.(=)" "" "0000264566" "00005010" "10" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000264566" "00025854" "10" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000264567" "00005010" "10" "66" "0" "66" "0" "c.66C>G" "r.(?)" "p.(Pro22=)" "" "0000264567" "00025854" "10" "66" "0" "66" "0" "c.66C>G" "r.(?)" "p.(Pro22=)" "" "0000264568" "00005010" "10" "696" "0" "696" "0" "c.696G>T" "r.(?)" "p.(Leu232Phe)" "" "0000264568" "00025854" "10" "677" "566" "677" "566" "c.677+566G>T" "r.(=)" "p.(=)" "" "0000264569" "00005010" "30" "813" "0" "813" "0" "c.813G>C" "r.(?)" "p.(Leu271=)" "" "0000264569" "00025854" "30" "735" "0" "735" "0" "c.735G>C" "r.(?)" "p.(Leu245=)" "" "0000264570" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000264570" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000264571" "00005010" "30" "898" "9" "898" "9" "c.898+9G>A" "r.(=)" "p.(=)" "" "0000264571" "00025854" "30" "820" "9" "820" "9" "c.820+9G>A" "r.(=)" "p.(=)" "" "0000266685" "00005010" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Phe52=)" "" "0000266685" "00025854" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Phe52=)" "" "0000266686" "00005010" "10" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Asp528=)" "" "0000266686" "00025854" "10" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(Asp502=)" "" "0000266687" "00005010" "10" "973" "3" "973" "3" "c.973+3A>G" "r.spl?" "p.?" "" "0000266687" "00025854" "10" "895" "3" "895" "3" "c.895+3A>G" "r.spl?" "p.?" "" "0000273258" "00005010" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "" "0000273258" "00025854" "50" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317Cys)" "" "0000273259" "00005010" "50" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Arg465Trp)" "" "0000273259" "00025854" "50" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" "0000273260" "00005010" "50" "1441" "0" "1441" "0" "c.1441C>A" "r.(?)" "p.(Gln481Lys)" "" "0000273260" "00025854" "50" "1363" "0" "1363" "0" "c.1363C>A" "r.(?)" "p.(Gln455Lys)" "" "0000273261" "00005010" "50" "17" "0" "17" "0" "c.17G>T" "r.(?)" "p.(Arg6Leu)" "" "0000273261" "00025854" "50" "17" "0" "17" "0" "c.17G>T" "r.(?)" "p.(Arg6Leu)" "" "0000273262" "00005010" "10" "242" "0" "242" "0" "c.242A>C" "r.(?)" "p.(Asp81Ala)" "" "0000273262" "00025854" "10" "242" "0" "242" "0" "c.242A>C" "r.(?)" "p.(Asp81Ala)" "" "0000273263" "00005010" "30" "66" "0" "66" "0" "c.66C>G" "r.(?)" "p.(Pro22=)" "" "0000273263" "00025854" "30" "66" "0" "66" "0" "c.66C>G" "r.(?)" "p.(Pro22=)" "" "0000273264" "00005010" "30" "813" "0" "813" "0" "c.813G>C" "r.(?)" "p.(Leu271=)" "" "0000273264" "00025854" "30" "735" "0" "735" "0" "c.735G>C" "r.(?)" "p.(Leu245=)" "" "0000273265" "00005010" "30" "898" "9" "898" "9" "c.898+9G>A" "r.(=)" "p.(=)" "" "0000273265" "00025854" "30" "820" "9" "820" "9" "c.820+9G>A" "r.(=)" "p.(=)" "" "0000337394" "00005010" "10" "973" "3" "973" "3" "c.973+3A>G" "r.spl?" "p.?" "" "0000337394" "00025854" "10" "895" "3" "895" "3" "c.895+3A>G" "r.spl?" "p.?" "" "0000339576" "00005010" "10" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Asp528=)" "" "0000339576" "00025854" "10" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(Asp502=)" "" "0000342527" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000342527" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000342684" "00005010" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "" "0000342684" "00025854" "50" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317Cys)" "" "0000344193" "00005010" "10" "242" "0" "242" "0" "c.242A>C" "r.(?)" "p.(Asp81Ala)" "" "0000344193" "00025854" "10" "242" "0" "242" "0" "c.242A>C" "r.(?)" "p.(Asp81Ala)" "" "0000346869" "00005010" "70" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0000346869" "00025854" "70" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0000350986" "00005010" "90" "481" "2" "481" "2" "c.481+2T>G" "r.spl?" "p.?" "" "0000350986" "00025854" "90" "481" "2" "481" "2" "c.481+2T>G" "r.spl?" "p.?" "" "0000358201" "00005010" "90" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.?" "1i" "0000358202" "00005010" "90" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.?" "1i" "0000476161" "00005010" "50" "1657" "0" "1674" "0" "c.1657_1674dup" "r.(?)" "p.(*559Gluext*6)" "" "0000476161" "00025854" "50" "1578" "0" "1595" "0" "c.1578_1595dup" "r.(?)" "p.(*533Gluext*6)" "" "0000476162" "00005010" "50" "1544" "0" "1544" "0" "c.1544C>G" "r.(?)" "p.(Thr515Ser)" "" "0000476162" "00025854" "50" "1466" "0" "1466" "0" "c.1466C>G" "r.(?)" "p.(Thr489Ser)" "" "0000476163" "00005010" "50" "1536" "0" "1538" "0" "c.1536_1538del" "r.(?)" "p.(Glu512del)" "" "0000476163" "00025854" "50" "1447" "0" "1449" "0" "c.1447_1449del" "r.(?)" "p.(Glu486del)" "" "0000476164" "00005010" "50" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asn507Ser)" "" "0000476164" "00025854" "50" "1442" "0" "1442" "0" "c.1442A>G" "r.(?)" "p.(Asn481Ser)" "" "0000476165" "00005010" "50" "1471" "0" "1471" "0" "c.1471A>G" "r.(?)" "p.(Thr491Ala)" "" "0000476165" "00025854" "50" "1393" "0" "1393" "0" "c.1393A>G" "r.(?)" "p.(Thr465Ala)" "" "0000476166" "00005010" "50" "1448" "0" "1448" "0" "c.1448A>G" "r.(?)" "p.(Asn483Ser)" "" "0000476166" "00025854" "50" "1370" "0" "1370" "0" "c.1370A>G" "r.(?)" "p.(Asn457Ser)" "" "0000476167" "00005010" "50" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "" "0000476167" "00025854" "50" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Gln376Pro)" "" "0000476168" "00005010" "10" "973" "3" "973" "3" "c.973+3A>G" "r.spl?" "p.?" "" "0000476168" "00025854" "10" "895" "3" "895" "3" "c.895+3A>G" "r.spl?" "p.?" "" "0000476169" "00005010" "50" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283Gln)" "" "0000476169" "00025854" "50" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257Gln)" "" "0000476170" "00005010" "90" "640" "0" "640" "0" "c.640del" "r.(?)" "p.(Ser214Hisfs*36)" "" "0000476170" "00025854" "90" "640" "0" "640" "0" "c.640del" "r.(?)" "p.(Ser214Hisfs*26)" "" "0000476171" "00005010" "50" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Met206Thr)" "" "0000476171" "00025854" "50" "617" "0" "617" "0" "c.617T>C" "r.(?)" "p.(Met206Thr)" "" "0000476172" "00005010" "90" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Trp151*)" "" "0000476172" "00025854" "90" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Trp151*)" "" "0000476173" "00005010" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000476173" "00025854" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000476174" "00005010" "10" "242" "0" "242" "0" "c.242A>C" "r.(?)" "p.(Asp81Ala)" "" "0000476174" "00025854" "10" "242" "0" "242" "0" "c.242A>C" "r.(?)" "p.(Asp81Ala)" "" "0000477452" "00005010" "10" "973" "3" "973" "3" "c.973+3A>G" "r.spl?" "p.?" "" "0000477452" "00025854" "10" "895" "3" "895" "3" "c.895+3A>G" "r.spl?" "p.?" "" "0000477453" "00005010" "90" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Trp151*)" "" "0000477453" "00025854" "90" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Trp151*)" "" "0000477454" "00005010" "10" "242" "0" "242" "0" "c.242A>C" "r.(?)" "p.(Asp81Ala)" "" "0000477454" "00025854" "10" "242" "0" "242" "0" "c.242A>C" "r.(?)" "p.(Asp81Ala)" "" "0000487548" "00005010" "90" "1633" "0" "1636" "0" "c.1633_1636dup" "r.(?)" "p.(Ser546Asnfs*21)" "14" "0000487549" "00005010" "90" "1032" "0" "1039" "0" "c.1032_1039dup" "r.(?)" "p.(Ser347Leufs*77)" "8" "0000487550" "00005010" "90" "424" "0" "427" "0" "c.424_427del" "r.(?)" "p.(Asn142*)" "2" "0000513613" "00005010" "10" "1616" "20" "1616" "20" "c.1616+20C>T" "r.(=)" "p.(=)" "" "0000513613" "00025854" "10" "1538" "20" "1538" "20" "c.1538+20C>T" "r.(=)" "p.(=)" "" "0000513614" "00005010" "70" "1151" "3" "1151" "6" "c.1151+3_1151+6del" "r.spl?" "p.?" "" "0000513614" "00025854" "70" "1073" "3" "1073" "6" "c.1073+3_1073+6del" "r.spl?" "p.?" "" "0000513615" "00005010" "50" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Phe344Ser)" "" "0000513615" "00025854" "50" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Phe318Ser)" "" "0000513616" "00005010" "30" "973" "13" "973" "13" "c.973+13C>T" "r.(=)" "p.(=)" "" "0000513616" "00025854" "30" "895" "13" "895" "13" "c.895+13C>T" "r.(=)" "p.(=)" "" "0000513617" "00005010" "30" "861" "0" "861" "0" "c.861T>C" "r.(?)" "p.(Pro287=)" "" "0000513617" "00025854" "30" "783" "0" "783" "0" "c.783T>C" "r.(?)" "p.(Pro261=)" "" "0000513618" "00005010" "10" "755" "5" "755" "13" "c.755+5_755+13dup" "r.spl?" "p.?" "" "0000513618" "00025854" "10" "677" "630" "677" "638" "c.677+630_677+638dup" "r.(=)" "p.(=)" "" "0000513619" "00005010" "10" "708" "0" "708" "0" "c.708T>C" "r.(?)" "p.(His236=)" "" "0000513619" "00025854" "10" "677" "578" "677" "578" "c.677+578T>C" "r.(=)" "p.(=)" "" "0000513620" "00005010" "50" "384" "0" "384" "0" "c.384G>T" "r.(?)" "p.(Lys128Asn)" "" "0000513620" "00025854" "50" "384" "0" "384" "0" "c.384G>T" "r.(?)" "p.(Lys128Asn)" "" "0000513621" "00005010" "10" "239" "-12" "239" "-12" "c.239-12T>A" "r.(=)" "p.(=)" "" "0000513621" "00025854" "10" "239" "-12" "239" "-12" "c.239-12T>A" "r.(=)" "p.(=)" "" "0000513622" "00005010" "10" "239" "-12" "239" "-12" "c.239-12T>A" "r.(=)" "p.(=)" "" "0000513622" "00025854" "10" "239" "-12" "239" "-12" "c.239-12T>A" "r.(=)" "p.(=)" "" "0000513623" "00005010" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Glu53Lys)" "" "0000513623" "00025854" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Glu53Lys)" "" "0000513624" "00005010" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Glu53Lys)" "" "0000513624" "00025854" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Glu53Lys)" "" "0000513625" "00005010" "30" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Gly16Arg)" "" "0000513625" "00025854" "30" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Gly16Arg)" "" "0000513626" "00005010" "10" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Arg9=)" "" "0000513626" "00025854" "10" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Arg9=)" "" "0000607335" "00005010" "50" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Asp526Asn)" "" "0000607335" "00025854" "50" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Asp500Asn)" "" "0000607336" "00005010" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Ser64Asn)" "" "0000607336" "00025854" "50" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Ser64Asn)" "" "0000620897" "00005010" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(Lys558=)" "" "0000620897" "00025854" "30" "1596" "0" "1596" "0" "c.1596G>A" "r.(?)" "p.(Lys532=)" "" "0000620898" "00005010" "30" "978" "0" "978" "0" "c.978T>C" "r.(?)" "p.(His326=)" "" "0000620898" "00025854" "30" "900" "0" "900" "0" "c.900T>C" "r.(?)" "p.(His300=)" "" "0000631918" "00005010" "70" "1617" "-2" "1617" "-2" "c.1617-2A>G" "r.(?)" "p.(?)" "" "0000645465" "00005010" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Gln481Ter)" "" "0000650358" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000650358" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000654461" "00005010" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "" "0000654461" "00025854" "50" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317Cys)" "" "0000676411" "00005010" "30" "861" "0" "861" "0" "c.861T>C" "r.(?)" "p.(Pro287=)" "" "0000676411" "00025854" "30" "783" "0" "783" "0" "c.783T>C" "r.(?)" "p.(Pro261=)" "" "0000676412" "00005010" "90" "237" "0" "238" "13" "c.237_238+13del" "r.spl?" "p.?" "" "0000676412" "00025854" "90" "237" "0" "238" "13" "c.237_238+13del" "r.spl?" "p.?" "" "0000676413" "00005010" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Arg9=)" "" "0000676413" "00025854" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Arg9=)" "" "0000684386" "00005010" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "8" "0000684624" "00005010" "70" "1645" "0" "1660" "0" "c.1645_1660del" "r.(?)" "p.(Gly549Lysfs*2)" "" "0000685090" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000685091" "00005010" "90" "450" "0" "451" "0" "c.450_451del" "r.(?)" "p.(Ile150Metfs*3)" "" "0000685092" "00005010" "90" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.?" "" "0000685093" "00005010" "90" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.?" "" "0000685094" "00005010" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "" "0000688576" "00005010" "50" "8131" "0" "8131" "0" "c.*6454G>T" "r.(=)" "p.(=)" "" "0000688576" "00025854" "50" "8053" "0" "8053" "0" "c.*6454G>T" "r.(=)" "p.(=)" "" "0000688577" "00005010" "30" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "" "0000688577" "00025854" "30" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Gln376Pro)" "" "0000710243" "00005010" "90" "424" "0" "427" "0" "c.424_427del" "r.(?)" "p.(Asn142*)" "" "0000710245" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000710246" "00005010" "90" "1633" "0" "1636" "0" "c.1633_1636dup" "r.(?)" "p.(Ser546Asnfs*21)" "" "0000710318" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000710341" "00005010" "90" "1032" "0" "1039" "0" "c.1032_1039dup" "r.(?)" "p.(Ser347Leufs*77)" "" "0000713262" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000713262" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000713288" "00005010" "90" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000713288" "00025854" "90" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000713369" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000713369" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000713408" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000713408" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000713422" "00005010" "90" "1151" "3" "1151" "6" "c.1151+3_1151+6del" "r.spl?" "p.?" "" "0000713422" "00025854" "90" "1073" "3" "1073" "6" "c.1073+3_1073+6del" "r.spl?" "p.?" "" "0000713478" "00005010" "90" "1347" "-3" "1347" "-3" "c.1347-3C>G" "r.spl?" "p.?" "" "0000713478" "00025854" "90" "1269" "-3" "1269" "-3" "c.1269-3C>G" "r.spl?" "p.?" "" "0000713657" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000713657" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000713740" "00005010" "90" "613" "4" "613" "5" "c.613+4_613+5del" "r.spl?" "p.?" "" "0000713740" "00025854" "90" "613" "4" "613" "5" "c.613+4_613+5del" "r.spl?" "p.?" "" "0000713799" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000713799" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000714059" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000714099" "00005010" "70" "858" "0" "858" "0" "c.858del" "r.(?)" "p.(Pro287Leufs*10)" "" "0000730616" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000730617" "00005010" "90" "197" "0" "200" "0" "c.197_200dup" "r.(?)" "p.(Leu68Serfs*15)" "1" "0000730791" "00005010" "90" "1651" "0" "1651" "0" "c.1651A>T" "r.(?)" "p.(Ser551Cys)" "14" "0000730792" "00005010" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000731463" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731464" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731465" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731466" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731467" "00005010" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000731468" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731469" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731470" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731471" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731472" "00005010" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000731473" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731474" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000731505" "00005010" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000731506" "00005010" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000731507" "00005010" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000731508" "00005010" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000731509" "00005010" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000731510" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000732518" "00005010" "90" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Ala197Ser)" "" "0000732546" "00005010" "90" "1045" "0" "1046" "0" "c.1045_1046del" "r.(?)" "p.(Met349Valfs*20)" "" "0000732554" "00005010" "50" "481" "2" "481" "2" "c.481+2T>G" "r.spl" "p.?" "" "0000732588" "00005010" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000732613" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000733132" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000733133" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000733157" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000733582" "00005010" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000734419" "00005010" "90" "1211" "3" "1211" "6" "c.1211+3_1211+6del" "r.spl" "p.?" "" "0000734420" "00005010" "90" "1211" "3" "1211" "6" "c.1211+3_1211+6del" "r.spl" "p.?" "" "0000734421" "00005010" "90" "1211" "3" "1211" "6" "c.1211+3_1211+6del" "r.spl" "p.?" "" "0000734422" "00005010" "90" "1211" "3" "1211" "6" "c.1211+3_1211+6del" "r.spl" "p.?" "" "0000735602" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000735725" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000735890" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000735891" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000735892" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000736171" "00005010" "90" "1045" "0" "1046" "0" "c.1045_1046del" "r.(?)" "p.(Met349Valfs*20)" "" "0000736807" "00005010" "70" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0000760135" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760136" "00005010" "50" "1045" "0" "1046" "0" "c.1045_1046del" "r.(?)" "p.(Met349Valfs*20)" "" "0000760161" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760173" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760177" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760178" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000760239" "00005010" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "" "0000760293" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760320" "00005010" "50" "1045" "0" "1046" "0" "c.1045_1046del" "r.(?)" "p.(Met349Valfs*20)" "" "0000760331" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760335" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760357" "00005010" "50" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000760359" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760370" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760373" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760424" "00005010" "50" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000760432" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000760463" "00005010" "70" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000760485" "00005010" "50" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000760498" "00005010" "50" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000760513" "00005010" "50" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "" "0000764052" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000764078" "00005010" "70" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Gln222Ter)" "" "0000764901" "00005010" "70" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0000764920" "00005010" "70" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Gly119Asp)" "" "0000764940" "00005010" "70" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Val239Ile)" "" "0000765840" "00005010" "70" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Ile297Thr)" "" "0000765854" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.?" "" "0000784154" "00005010" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000784218" "00005010" "90" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Leu133Pro)" "" "0000784260" "00005010" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784422" "00005010" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000784437" "00005010" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000784514" "00005010" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000784517" "00005010" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000784585" "00005010" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000786314" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000786351" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000786352" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000787630" "00005010" "70" "451" "0" "451" "0" "c.451T>G" "r.(?)" "p.(Trp151Gly)" "" "0000787646" "00005010" "70" "547" "0" "547" "0" "c.547A>T" "r.(?)" "p.(Thr183Ser)" "" "0000787703" "00005010" "70" "759" "0" "759" "0" "c.759del" "r.(?)" "p.(Val254SerfsTer12)" "" "0000787708" "00005010" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000788335" "00005010" "50" "1544" "0" "1544" "0" "c.1544C>G" "r.(?)" "p.(Thr515Ser)" "13" "0000789874" "00005010" "50" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "2" "0000790406" "00005010" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000790407" "00005010" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000790408" "00005010" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000790473" "00005010" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000790505" "00005010" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000790516" "00005010" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000790600" "00005010" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000790641" "00005010" "50" "0" "0" "0" "0" "c.?" "r.spl?" "p.(?)" "" "0000790744" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000791612" "00005010" "50" "1438" "0" "1438" "0" "c.1438A>T" "r.(?)" "p.(Asn480Tyr)" "12" "0000792024" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "2" "0000792025" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "2" "0000792026" "00005010" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792066" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792067" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792068" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792069" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792070" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792071" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792072" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792073" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792074" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792075" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792076" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792077" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792078" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792079" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792080" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792081" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792082" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000792083" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000794052" "00005010" "70" "156" "0" "157" "0" "c.156_157insT" "r.(?)" "p.(Glu53*)" "" "0000794053" "00005010" "70" "1283" "0" "1286" "0" "c.1283_1286dup" "r.(?)" "p.(Ile430Glnfs*14)" "" "0000794296" "00005010" "90" "1467" "0" "1470" "0" "c.1467_1470dup" "r.(?)" "p.(Thr491Leufs*4)" "13" "0000794735" "00005010" "90" "999" "0" "999" "0" "c.999C>A" "r.(?)" "p.(Cys333*)" "" "0000794807" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000794813" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000794814" "00005010" "70" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Gly119Asp)" "" "0000794821" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000794850" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000794855" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000795060" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000796017" "00005010" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "12" "0000796153" "00005010" "90" "780" "0" "780" "0" "c.780delT" "r.?" "p.?" "6" "0000796154" "00005010" "90" "598" "0" "598" "0" "c.598A>T" "r.(?)" "p.(Lys200*)" "3" "0000796155" "00005010" "90" "769" "0" "769" "0" "c.769C>T" "r.?" "p.?" "6" "0000796156" "00005010" "90" "420" "0" "420" "0" "c.420del" "r.(?)" "p.(Ile141Leufs*3)" "2" "0000796270" "00005010" "90" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "2" "0000797102" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000797103" "00005010" "90" "197" "0" "200" "0" "c.197_200dup" "r.(?)" "p.(Leu68Serfs*15)" "1" "0000797169" "00005010" "50" "1212" "-3" "1212" "-3" "c.1212-3T>A" "r.spl?" "p.(?)" "9i" "0000797170" "00005010" "50" "239" "-1" "481" "1" "c.(238+1_239-1)_(481+1_482-1)del" "r.(?)" "p.(?)" "2" "0000797564" "00005010" "70" "481" "2" "481" "2" "c.481+2T>G" "r.spl" "p.(?)" "" "0000797565" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000797566" "00005010" "70" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Gly258Arg)" "" "0000797973" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000800210" "00005010" "30" "1601" "0" "1601" "0" "c.1601C>T" "r.(?)" "p.(Ser534Leu)" "" "0000800210" "00025854" "30" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ser508Leu)" "" "0000800211" "00005010" "10" "1211" "13" "1211" "13" "c.1211+13T>C" "r.(=)" "p.(=)" "" "0000800211" "00025854" "10" "1133" "13" "1133" "13" "c.1133+13T>C" "r.(=)" "p.(=)" "" "0000800212" "00005010" "10" "974" "-18" "974" "-18" "c.974-18T>A" "r.(=)" "p.(=)" "" "0000800212" "00025854" "10" "896" "-18" "896" "-18" "c.896-18T>A" "r.(=)" "p.(=)" "" "0000800213" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000800213" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000800214" "00005010" "50" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000800214" "00025854" "50" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000800215" "00005010" "30" "239" "-14" "239" "-14" "c.239-14T>A" "r.(=)" "p.(=)" "" "0000800215" "00025854" "30" "239" "-14" "239" "-14" "c.239-14T>A" "r.(=)" "p.(=)" "" "0000800216" "00005010" "30" "238" "6" "238" "6" "c.238+6T>C" "r.(=)" "p.(=)" "" "0000800216" "00025854" "30" "238" "6" "238" "6" "c.238+6T>C" "r.(=)" "p.(=)" "" "0000800217" "00005010" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Phe52=)" "" "0000800217" "00025854" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Phe52=)" "" "0000800218" "00005010" "50" "119" "0" "121" "0" "c.119_121del" "r.(?)" "p.(Glu40del)" "" "0000800218" "00025854" "50" "119" "0" "121" "0" "c.119_121del" "r.(?)" "p.(Glu40del)" "" "0000800219" "00005010" "30" "102" "0" "102" "0" "c.102G>T" "r.(?)" "p.(Thr34=)" "" "0000800219" "00025854" "30" "102" "0" "102" "0" "c.102G>T" "r.(?)" "p.(Thr34=)" "" "0000811970" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000811970" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000811971" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000811971" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000812010" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812013" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812014" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812024" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812050" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812054" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812068" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812129" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812140" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812161" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812162" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812182" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812194" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812290" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812304" "00005010" "70" "182" "0" "182" "0" "c.182T>A" "r.(?)" "p.(Val61Glu)" "1" "0000812305" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812410" "00005010" "70" "182" "0" "182" "0" "c.182T>A" "r.(?)" "p.(Val61Glu)" "1" "0000812420" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812477" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000812490" "00005010" "70" "1453" "0" "1454" "0" "c.1453_1454insA" "r.(?)" "p.(Pro485Hisfs*4)" "13" "0000812491" "00005010" "70" "1453" "0" "1454" "0" "c.1453_1454insA" "r.(?)" "p.(Pro485Hisfs*4)" "13" "0000812574" "00005010" "70" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Pro166Leu)" "" "0000812575" "00005010" "70" "1483" "0" "1483" "0" "c.1483del" "r.(?)" "p.(Val495*)" "" "0000813178" "00005010" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.R257X" "6" "0000813179" "00005010" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.R257X" "6" "0000815318" "00005010" "50" "1601" "0" "1601" "0" "c.1601C>T" "r.(?)" "p.(Ser534Leu)" "" "0000815318" "00025854" "50" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ser508Leu)" "" "0000815358" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000815358" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000815378" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000815378" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000815379" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000815379" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000816133" "00005010" "90" "1540" "0" "1540" "0" "c.1540G>T" "r.(?)" "p.(Glu514*)" "" "0000816446" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000817485" "00005010" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(R257*)" "" "0000817486" "00005010" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(C362*)" "" "0000817490" "00005010" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(R257*)" "" "0000817494" "00005010" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(R257*)" "" "0000818606" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000818606" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000818607" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000818607" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000818608" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000818608" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000818948" "00005010" "70" "0" "0" "0" "0" "c.(?_-1)_(481+1_482-1){0}" "r.0?" "p.0?" "_1_2i" "0000818949" "00005010" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "12" "0000818956" "00005010" "70" "0" "0" "0" "0" "c.-101_(238+1_239-1){0}" "r.0?" "p.0?" "_1_1i" "0000818957" "00005010" "70" "238" "2" "238" "2" "c.238+2T>C" "r.spl?" "p.?" "1i" "0000819068" "00005010" "70" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Gly119Asp)" "" "0000819068" "00025854" "70" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Gly119Asp)" "" "0000819509" "00005010" "70" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Gln424*)" "" "0000819509" "00025854" "70" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398*)" "" "0000820076" "00005010" "70" "1624" "0" "1643" "0" "c.1624_1643dup" "r.(?)" "p.(Gly549Glnfs*14)" "" "0000820076" "00025854" "70" "1546" "0" "1565" "0" "c.1546_1565dup" "r.(?)" "p.(Gly523Glnfs*14)" "" "0000820261" "00005010" "70" "1164" "0" "1165" "0" "c.1164_1165del" "r.(?)" "p.(Cys388*)" "" "0000820261" "00025854" "70" "1084" "0" "1085" "0" "c.1084_1085del" "r.(?)" "p.(Cys362*)" "" "0000820298" "00005010" "70" "481" "2" "481" "2" "c.481+2T>G" "r.spl" "p.(?)" "" "0000820298" "00025854" "70" "481" "2" "481" "2" "c.481+2T>G" "r.spl?" "p.?" "" "0000820396" "00005010" "70" "1151" "3" "1151" "6" "c.1151+3_1151+6del" "r.spl?" "p.(?)" "" "0000820396" "00025854" "70" "1071" "0" "1073" "1" "c.1071_1073+1del" "r.spl?" "p.?" "" "0000820412" "00005010" "70" "481" "2" "481" "2" "c.481+2T>G" "r.spl" "p.(?)" "" "0000820412" "00025854" "70" "481" "2" "481" "2" "c.481+2T>G" "r.spl?" "p.?" "" "0000820460" "00005010" "70" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343His)" "" "0000820460" "00025854" "70" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Arg317His)" "" "0000820852" "00005010" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000820852" "00025854" "70" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "" "0000820895" "00005010" "70" "541" "0" "542" "0" "c.541_542delinsTT" "r.(?)" "p.(Glu181Leu)" "" "0000820895" "00025854" "70" "541" "0" "542" "0" "c.541_542delinsTT" "r.(?)" "p.(Glu181Leu)" "" "0000820903" "00005010" "70" "1642" "0" "1642" "0" "c.1642T>G" "r.(?)" "p.(Tyr548Asp)" "" "0000820903" "00025854" "70" "1564" "0" "1564" "0" "c.1564T>G" "r.(?)" "p.(Tyr522Asp)" "" "0000821198" "00005010" "70" "613" "4" "613" "5" "c.613+4_613+5del" "r.spl?" "p.(?)" "" "0000821198" "00025854" "70" "613" "4" "613" "5" "c.613+4_613+5del" "r.spl?" "p.?" "" "0000821199" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000821199" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000821200" "00005010" "70" "1151" "3" "1151" "6" "c.1151+3_1151+6del" "r.spl?" "p.(?)" "" "0000821200" "00025854" "70" "1071" "0" "1073" "1" "c.1071_1073+1del" "r.spl?" "p.?" "" "0000821201" "00005010" "70" "1347" "-3" "1347" "-3" "c.1347-3C>G" "r.spl?" "p.(?)" "" "0000821201" "00025854" "70" "1269" "-3" "1269" "-3" "c.1269-3C>G" "r.spl?" "p.?" "" "0000821202" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000821202" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000821532" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000821532" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000821533" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000821533" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000821534" "00005010" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000821534" "00025854" "70" "-243848" "0" "25353" "0" "c.-243848_*23754del" "r.0?" "p.0?" "" "0000822683" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000822683" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000822684" "00005010" "70" "197" "0" "200" "0" "c.197_200dup" "r.(?)" "p.(Leu68Serfs*15)" "1" "0000822684" "00025854" "70" "189" "0" "192" "0" "c.189_192dup" "r.(?)" "p.(Leu68Serfs*15)" "" "0000822685" "00005010" "70" "239" "-2" "239" "-2" "c.239-2A>G" "r.spl" "p.(?)" "2i" "0000822685" "00025854" "70" "239" "-2" "239" "-2" "c.239-2A>G" "r.spl?" "p.?" "" "0000822686" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000822686" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000822746" "00005010" "70" "1651" "0" "1651" "0" "c.1651A>T" "r.(?)" "p.(Ser551Cys)" "14" "0000822746" "00025854" "70" "1573" "0" "1573" "0" "c.1573A>T" "r.(?)" "p.(Ser525Cys)" "" "0000822747" "00005010" "70" "239" "-1" "481" "1" "c.(238+1_239-1)_(481+1_482-1)del" "r.spl" "p.(?)" "2" "0000822748" "00005010" "70" "1628" "0" "1632" "0" "c.1628_1632dup" "r.(?)" "p.(Ile545Aspfs*13)" "14" "0000822748" "00025854" "70" "1550" "0" "1554" "0" "c.1550_1554dup" "r.(?)" "p.(Ile519Aspfs*13)" "" "0000822749" "00005010" "70" "1651" "0" "1651" "0" "c.1651A>T" "r.(?)" "p.(Ser551Cys)" "14" "0000822749" "00025854" "70" "1573" "0" "1573" "0" "c.1573A>T" "r.(?)" "p.(Ser525Cys)" "" "0000825729" "00005010" "70" "1467" "0" "1470" "0" "c.1467_1470dup" "r.(?)" "p.(Thr491Leufs*4)" "13" "0000825999" "00005010" "70" "1568" "0" "1568" "0" "c.1568G>A" "r.(?)" "p.(Trp523*)" "13" "0000826000" "00005010" "70" "1482" "0" "1482" "0" "c.1482del" "r.(?)" "p.(Val495*)" "13" "0000826194" "00005010" "70" "1482" "0" "1482" "0" "c.1482del" "r.(?)" "p.(Val495*)" "13" "0000826195" "00005010" "70" "239" "-2" "239" "-2" "c.239-2A>G" "r.spl?" "p.?" "1i" "0000826285" "00005010" "70" "1482" "0" "1482" "0" "c.1482del" "r.(?)" "p.(Val495*)" "13" "0000826401" "00005010" "70" "1482" "0" "1482" "0" "c.1482del" "r.(?)" "p.(Val495*)" "13" "0000826402" "00005010" "70" "789" "0" "789" "0" "c.789C>G" "r.(?)" "p.(Ser263Arg)" "6" "0000827197" "00005010" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Gln112*)" "2" "0000827198" "00005010" "90" "1297" "0" "1298" "0" "c.1297_1298del" "r.(?)" "p.(Ile433Serfs*9)" "11" "0000827199" "00005010" "50" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000829953" "00005010" "90" "638" "0" "638" "0" "c.638dup" "r.(?)" "p.(Ser214Valfs*4)" "4" "0000846904" "00005010" "50" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000846904" "00025854" "50" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Cys125Trp)" "" "0000847610" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847610" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847611" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847611" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847612" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847612" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847613" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847613" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847614" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847614" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847615" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847615" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847616" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847616" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847617" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847617" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847618" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847618" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847619" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847619" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847620" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847620" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847621" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847621" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847622" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847622" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847623" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847623" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847624" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847624" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847625" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847625" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847626" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847626" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847627" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847627" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847628" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847628" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847629" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847629" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847630" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847630" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847631" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847631" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847632" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847632" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847633" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847633" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847634" "00005010" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.(?)" "11i" "0000847634" "00025854" "70" "238" "1" "238" "1" "c.238+1G>A" "r.spl?" "p.?" "" "0000847635" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847635" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847636" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847636" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847637" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847637" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847638" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847638" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847639" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847639" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847640" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847640" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847641" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847641" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847642" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847642" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847643" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847643" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847644" "00005010" "70" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "6" "0000847644" "00025854" "70" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000847645" "00005010" "70" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "6" "0000847645" "00025854" "70" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000847646" "00005010" "70" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "6" "0000847646" "00025854" "70" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000847663" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847663" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847664" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847664" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847665" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847665" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847666" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847666" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847667" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847667" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847668" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847668" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847669" "00005010" "70" "1164" "0" "1165" "0" "c.1164_1165del" "r.(?)" "p.(Cys388*)" "6" "0000847669" "00025854" "70" "1084" "0" "1085" "0" "c.1084_1085del" "r.(?)" "p.(Cys362*)" "" "0000847670" "00005010" "70" "1164" "0" "1165" "0" "c.1164_1165del" "r.(?)" "p.(Cys388*)" "6" "0000847670" "00025854" "70" "1084" "0" "1085" "0" "c.1084_1085del" "r.(?)" "p.(Cys362*)" "" "0000847671" "00005010" "70" "812" "0" "812" "0" "c.812T>C" "r.(?)" "p.(Leu271Pro)" "" "0000847671" "00025854" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Leu245Pro)" "" "0000847672" "00005010" "70" "999" "0" "999" "0" "c.999C>A" "r.(?)" "p.(Cys333Ter)" "" "0000847672" "00025854" "70" "921" "0" "921" "0" "c.921C>A" "r.(?)" "p.(Cys307*)" "" "0000847753" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847753" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847754" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847754" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847755" "00005010" "70" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "11" "0000847755" "00025854" "70" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "" "0000847756" "00005010" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000847756" "00025854" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000847757" "00005010" "70" "1164" "0" "1165" "0" "c.1164_1165del" "r.(?)" "p.(Cys388*)" "9" "0000847757" "00025854" "70" "1109" "0" "1110" "0" "c.1109_1110del" "r.(?)" "p.(Asn370Lysfs*3)" "" "0000847758" "00005010" "70" "1164" "0" "1165" "0" "c.1164_1165del" "r.(?)" "p.(Cys388*)" "9" "0000847758" "00025854" "70" "1109" "0" "1110" "0" "c.1109_1110del" "r.(?)" "p.(Asn370Lysfs*3)" "" "0000847759" "00005010" "70" "1164" "0" "1165" "0" "c.1164_1165del" "r.(?)" "p.(Cys388*)" "9" "0000847759" "00025854" "70" "1109" "0" "1110" "0" "c.1109_1110del" "r.(?)" "p.(Asn370Lysfs*3)" "" "0000847760" "00005010" "70" "1164" "0" "1165" "0" "c.1164_1165del" "r.(?)" "p.(Cys388*)" "9" "0000847760" "00025854" "70" "1109" "0" "1110" "0" "c.1109_1110del" "r.(?)" "p.(Asn370Lysfs*3)" "" "0000847761" "00005010" "70" "1164" "0" "1165" "0" "c.1164_1165del" "r.(?)" "p.(Cys388*)" "9" "0000847761" "00025854" "70" "1109" "0" "1110" "0" "c.1109_1110del" "r.(?)" "p.(Asn370Lysfs*3)" "" "0000847762" "00005010" "70" "450" "0" "451" "0" "c.450_451del" "r.(?)" "p.(Ile150Metfs*3)" "2" "0000847762" "00025854" "70" "448" "0" "449" "0" "c.448_449del" "r.(?)" "p.(Ile150Metfs*3)" "" "0000849613" "00005010" "50" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Ser517Leu)" "" "0000849613" "00025854" "50" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Ser491Leu)" "" "0000849614" "00005010" "50" "947" "0" "947" "0" "c.947T>C" "r.(?)" "p.(Ile316Thr)" "" "0000849614" "00025854" "50" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Ile290Thr)" "" "0000858205" "00005010" "90" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461*)" "" "0000858205" "00025854" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "" "0000858206" "00005010" "70" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000858206" "00025854" "70" "316" "0" "316" "0" "c.316C>A" "r.(?)" "p.(Arg106Ser)" "" "0000881419" "00005010" "70" "1642" "0" "1642" "0" "c.1642dup" "r.(?)" "p.(Tyr548Leufs*18)" "" "0000884624" "00005010" "50" "1601" "0" "1601" "0" "c.1601C>T" "r.(?)" "p.(Ser534Leu)" "" "0000884624" "00025854" "50" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ser508Leu)" "" "0000884625" "00005010" "30" "1444" "-18" "1444" "-15" "c.1444-18_1444-15dup" "r.(=)" "p.(=)" "" "0000884625" "00025854" "30" "1366" "-18" "1366" "-15" "c.1366-18_1366-15dup" "r.(=)" "p.(=)" "" "0000884626" "00005010" "30" "613" "20" "613" "20" "c.613+20T>C" "r.(=)" "p.(=)" "" "0000884626" "00025854" "30" "613" "20" "613" "20" "c.613+20T>C" "r.(=)" "p.(=)" "" "0000905961" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000905961" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000911480" "00005010" "10" "239" "-12" "239" "-12" "c.239-12T>A" "r.(=)" "p.(=)" "" "0000911480" "00025854" "10" "239" "-12" "239" "-12" "c.239-12T>A" "r.(=)" "p.(=)" "" "0000916166" "00005010" "90" "481" "2" "481" "2" "c.481+2T>G" "r.spl?" "p.(?)" "2i" "0000916167" "00005010" "50" "608" "0" "608" "0" "c.608T>G" "r.(?)" "p.(Val203Gly)" "3" "0000916332" "00005010" "70" "426" "0" "430" "0" "c.426_430del" "r.(?)" "p.(Asn142Lysfs*2)" "2" "0000916333" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000916380" "00005010" "50" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Phe344Ser)" "8" "0000916381" "00005010" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "8" "0000916446" "00005010" "90" "1628" "0" "1632" "0" "c.1628_1632dup" "r.(?)" "p.(Ile545Aspfs*13)" "14" "0000916495" "00005010" "90" "237" "0" "238" "13" "c.237_238+13del" "r.?" "p.(Gly80*)" "1" "0000916734" "00005010" "70" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Glu91*)" "2" "0000916735" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "6" "0000923529" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000923529" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000947641" "00005010" "30" "482" "-19" "482" "-19" "c.482-19C>A" "r.(=)" "p.(=)" "" "0000947641" "00025854" "30" "482" "-19" "482" "-19" "c.482-19C>A" "r.(=)" "p.(=)" "" "0000947642" "00005010" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(=)" "" "0000947642" "00025854" "30" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(=)" "" "0000958055" "00025854" "90" "1539" "-2" "1539" "-2" "c.1539-2A>G" "r.spl" "p.?" "" "0000958141" "00025854" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Gln455Ter)" "" "0000958161" "00025854" "90" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Ter)" "" "0000958506" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000959265" "00025854" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000959308" "00025854" "70" "1539" "0" "1542" "0" "c.1539_1542dup" "r.(?)" "p.(His515IlefsTer26)" "" "0000986348" "00005010" "70" "1488" "0" "1489" "0" "c.1488_1489delinsT" "r.(?)" "p.(Lys496AsnfsTer30)" "13" "0000986349" "00005010" "70" "280" "0" "280" "0" "c.280G>T" "r.(?)" "p.(Glu94Ter)" "2" "0000986350" "00005010" "70" "1635" "0" "1644" "0" "c.1635_1644del" "r.(?)" "p.(Ile545MetfsTer8)" "14" "0000986351" "00005010" "50" "154" "0" "154" "0" "c.154T>C" "r.(?)" "p.(Phe52Leu)" "1" "0000986352" "00005010" "70" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Cys)" "2" "0000986353" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "3" "0000986354" "00005010" "90" "238" "1" "238" "1" "c.238+1G>A" "r.spl" "p.?" "1i" "0000986355" "00005010" "90" "450" "0" "451" "0" "c.450_451del" "r.(?)" "p.(Ile150MetfsTer3)" "2" "0000986356" "00005010" "70" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "2" "0000986888" "00005010" "70" "239" "-1" "481" "1" "c.(238+1_239-1)_(481+1_482-1)del" "r.?" "p.(Leu68Serfs*15)" "1i_2i" "0000986889" "00005010" "90" "481" "2" "481" "2" "c.481+2T>G" "r.spl" "p.?" "2i" "0000986890" "00005010" "50" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Ile171Thr)" "3" "0000986891" "00005010" "50" "158" "0" "158" "0" "c.158A>C" "r.(?)" "p.(Glu53Ala)" "1" "0000986892" "00005010" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "3" "0000986893" "00005010" "50" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343His)" "8" "0000986894" "00005010" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Cys)" "8" "0000986895" "00005010" "50" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Asp526Asn)" "12" "0000986896" "00005010" "50" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Phe344Ser)" "8" "0000986993" "00005010" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0000987108" "00005010" "90" "1642" "0" "1642" "0" "c.1642T>G" "r.(?)" "p.(Tyr548Asp)" "" "0000987163" "00005010" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0001022285" "00005010" "70" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0001022315" "00005010" "70" "365" "0" "365" "0" "c.365T>G" "r.(?)" "p.(Leu122Arg)" "" "0001045786" "00005010" "50" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Thr317Ile)" "" "0001045786" "00025854" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Thr291Ile)" "" "0001045787" "00005010" "90" "677" "1" "677" "1" "c.677+1G>A" "r.spl?" "p.?" "" "0001045787" "00025854" "90" "677" "1" "677" "1" "c.677+1G>A" "r.spl?" "p.?" "" "0001045788" "00005010" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0001045788" "00025854" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 378 "{{screeningid}}" "{{variantid}}" "0000058382" "0000096175" "0000059774" "0000090890" "0000100511" "0000162810" "0000100524" "0000162823" "0000105470" "0000170889" "0000156279" "0000358201" "0000156280" "0000358202" "0000174756" "0000784154" "0000233453" "0000476161" "0000233454" "0000476162" "0000233455" "0000476163" "0000233456" "0000476164" "0000233457" "0000476165" "0000233458" "0000476166" "0000233459" "0000476167" "0000233460" "0000476168" "0000233461" "0000476169" "0000233462" "0000476170" "0000233463" "0000476171" "0000233464" "0000476172" "0000233465" "0000476173" "0000233466" "0000476174" "0000234744" "0000477452" "0000234745" "0000477453" "0000234746" "0000477454" "0000241538" "0000487548" "0000241539" "0000487549" "0000241540" "0000487550" "0000277174" "0000631918" "0000289494" "0000645465" "0000293669" "0000650358" "0000309521" "0000684386" "0000309751" "0000684624" "0000310179" "0000685090" "0000310180" "0000685091" "0000310181" "0000685092" "0000310182" "0000685093" "0000310183" "0000685094" "0000326651" "0000710243" "0000326651" "0000710341" "0000326653" "0000710245" "0000326654" "0000710246" "0000326726" "0000710318" "0000329139" "0000713262" "0000329165" "0000713288" "0000329246" "0000713369" "0000329246" "0000713740" "0000329285" "0000713408" "0000329299" "0000713422" "0000329355" "0000713478" "0000329355" "0000713799" "0000329534" "0000713657" "0000329702" "0000714059" "0000329702" "0000714099" "0000333192" "0000730616" "0000333192" "0000730791" "0000333193" "0000730617" "0000333193" "0000730792" "0000333700" "0000731463" "0000333700" "0000731505" "0000333701" "0000731464" "0000333701" "0000731506" "0000333702" "0000731465" "0000333703" "0000731466" "0000333703" "0000731507" "0000333704" "0000731467" "0000333704" "0000731508" "0000333705" "0000731468" "0000333706" "0000731469" "0000333707" "0000731470" "0000333708" "0000731471" "0000333709" "0000731472" 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