### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRCD)
# 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}}"
"PRCD" "progressive rod-cone degeneration" "17" "q25.1" "unknown" "NG_016702.1" "UD_132119020535" "" "https://www.LOVD.nl/PRCD" "" "1" "32528" "768206" "610598" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PRCD_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2017-01-31 22:07:37" "00006" "2025-04-07 13:47:05"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00016771" "PRCD" "transcript variant 1" "002" "NM_001077620.2" "" "NP_001071088.1" "" "" "" "-103" "1891" "165" "74536121" "74541458" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"02960" "RP36" "retinitis pigmentosa, type 36 (RP36)" "" "610599" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"PRCD" "02960"
## Individuals ## Do not remove or alter this header ##
## Count = 46
"{{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}}"
"00001810" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00100121" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61376"
"00233472" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233473" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233474" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233475" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233476" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233797" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00309302" "" "" "" "15" "" "00004" "{PMID:Sharon 2019:31456290}" "15 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00331283" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "family" "M" "" "Japan" "" "0" "" "" "" "Pat37"
"00335141" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "164"
"00335221" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/24"
"00362189" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Spain" "" "0" "" "" "" "RP-0040"
"00363520" "" "" "" "2" "" "00000" "{PMID:Beheshtian 2015:26497376}" "4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "9200034/I-39360"
"00373375" "" "" "" "1" "" "00000" "{PMID:Van Huet 2015:25999674}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00375280" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6167"
"00381069" "" "" "" "2" "" "00000" "{PMID:Fu-2013:23661369}" "" "M" "" "China" "" "0" "" "" "Chinese" ""
"00381717" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" ""
"00385399" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "F" "" "Taiwan" "" "0" "" "" "" "F9-II-1"
"00386239" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-203, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-451"
"00388852" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 59, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "136"
"00388942" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "226"
"00388943" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "227"
"00388944" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "228"
"00410240" "" "" "" "1" "" "00000" "{PMID:Zangerl 2006:16938425}" "" "" "" "" "" "0" "" "" "" "1"
"00410241" "" "" "" "1" "" "00000" "{PMID:Zangerl 2006:16938425}" "" "F" "" "" "" "0" "" "" "Bangladesh" "3"
"00410242" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "307"
"00410243" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "308"
"00410244" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "511"
"00410245" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "651"
"00410246" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "616"
"00410247" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "485"
"00410248" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "853"
"00410249" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "572"
"00410250" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "656"
"00410251" "" "" "" "1" "" "00000" "{PMID:Nevet 2010:20507925}" "single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table" "?" "yes" "Israel" "" "0" "" "" "Arab" "505"
"00410253" "" "" "" "1" "" "00000" "{PMID:Pach 2013:23805042}" "" "F" "yes" "Turkey" "" "0" "" "" "" "IV:3"
"00410254" "" "" "" "1" "" "00000" "{PMID:Pach 2013:23805042}" "" "M" "yes" "Turkey" "" "0" "" "" "" "IV:4"
"00410255" "" "" "" "1" "" "00000" "{PMID:Pach 2013:23805042}" "" "F" "yes" "Turkey" "" "0" "" "" "" "IV:5"
"00429699" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00446966" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-195"
"00446988" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-435"
"00447001" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-456"
"00447003" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ARRP-460"
"00461111" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat46"
"00461125" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat60"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 46
"{{individualid}}" "{{diseaseid}}"
"00001810" "00112"
"00100121" "04214"
"00233472" "04214"
"00233473" "04214"
"00233474" "04214"
"00233475" "04214"
"00233476" "04214"
"00233797" "04214"
"00309302" "04214"
"00331283" "04214"
"00335141" "00198"
"00335221" "04214"
"00362189" "04214"
"00363520" "04214"
"00373375" "04214"
"00375280" "04214"
"00381069" "04214"
"00381717" "04214"
"00385399" "04214"
"00386239" "04214"
"00388852" "04214"
"00388942" "04214"
"00388943" "04214"
"00388944" "04214"
"00410240" "04214"
"00410241" "04214"
"00410242" "04214"
"00410243" "04214"
"00410244" "04214"
"00410245" "04214"
"00410246" "04214"
"00410247" "04214"
"00410248" "04214"
"00410249" "04214"
"00410250" "04214"
"00410251" "04214"
"00410253" "04214"
"00410254" "04214"
"00410255" "04214"
"00429699" "00112"
"00446966" "00198"
"00446988" "00198"
"00447001" "00198"
"00447003" "00198"
"00461111" "04214"
"00461125" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 02960, 04214
## Count = 39
"{{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}}"
"0000078358" "04214" "00100121" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234622" "04214" "00309302" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000249477" "04214" "00331283" "00000" "Familial, autosomal recessive" "61y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252856" "00198" "00335141" "00000" "Unknown" "" "15y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252936" "04214" "00335221" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000257603" "04214" "00362189" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000258869" "04214" "00363520" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268651" "04214" "00373375" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270494" "04214" "00375280" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000274920" "04214" "00381069" "00000" "Familial, autosomal recessive" "36y" "Epiretinal membrane" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" ""
"0000275559" "04214" "00381717" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" ""
"0000279195" "04214" "00385399" "00000" "Isolated (sporadic)" "57y" "57" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" ""
"0000280042" "04214" "00386239" "00000" "Familial, autosomal recessive" "29y" "" "" "12y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" ""
"0000282393" "04214" "00388852" "00000" "Isolated (sporadic)" "32y" "age at genetic diagnosis mentioned" "" "26y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000282483" "04214" "00388942" "00000" "Familial, autosomal recessive" "34y" "age at genetic diagnosis mentioned" "" "26y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" ""
"0000282484" "04214" "00388943" "00000" "Familial, autosomal recessive" "29y" "age at genetic diagnosis mentioned" "" "22y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" ""
"0000282485" "04214" "00388944" "00000" "Familial, autosomal recessive" "32y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" ""
"0000302344" "04214" "00410240" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302345" "04214" "00410241" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right, left eye: 20/70, hand motions; refraction: right, left eye: 3.75+ 1.00x180,-2.00 sphere; slit-lamp examination: clear corneas and deep anterior chambers, clear lens, no vitreous cells; papillary response: a 0.9 log unit relative afferent papillary defect; Goldmann perimetry: a greater loss of sensitivity in the left eye than in the right; fundus: optic discs with fairly normal color, markedly attenuated arterioles, extensive bone spicule-like pigmentation in all four quadrants of both eyes, densest at the equator, this intraretinal pigment was admixed with lighter colored deposits at the level of the retinal pigment epithelium, small patches of geographic atrophy near fixation in both eye,full-field electroretinography: no responses" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302347" "04214" "00410242" "00000" "Familial, autosomal recessive" "11y" "11y: best corrected visual acuity right, left eye: 6/12, 6/12; 6y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: mild bone spicule pigmentation; additional findings" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302348" "04214" "00410243" "00000" "Familial, autosomal recessive" "14y" "14y: best corrected visual acuity right, left eye: 6/15, 6/15; 8y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; additional findings" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302349" "04214" "00410244" "00000" "Familial, autosomal recessive" "14y" "14y: best corrected visual acuity right, left eye: 6/18, 6/18; full field electroretinogram, light and dark adaptation: non recordable; funduscopy: mild bone spicule pigmentation; additional findings" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302350" "04214" "00410245" "00000" "Familial, autosomal recessive" "19y" "19y: best corrected visual acuity right, left eye: 6/90, 6/120; 15y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; macular puckering; additional findings" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302351" "04214" "00410246" "00000" "Familial, autosomal recessive" "22y" "19y: best corrected visual acuity right, left eye: 6/9+, 6/30+; full field electroretinogram, light and dark adaptation: not done; funduscopy: bone spicule pigmentation; bull\'s eye maculopathy; 22y: best corrected visual acuity right, left eye: 6/12, 6/30; full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; bull\'s eye maculopathy" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302352" "04214" "00410247" "00000" "Familial, autosomal recessive" "35y" "35y: best corrected visual acuity right, left eye: 6/36, 6/36; 18y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; macular scars; optic disk pallor; additional findings" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302353" "04214" "00410248" "00000" "Familial, autosomal recessive" "31y" "31y: best corrected visual acuity right, left eye: 6/60, 6/60; 25y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; significant macular oedema and puckering; additional findin" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302354" "04214" "00410249" "00000" "Familial, autosomal recessive" "45y" "45y: best corrected visual acuity right, left eye: hand movement 10 cm, hand movement 10 cm; 30y: full field electroretinogram, light and dark adaptation: not done; funduscopy: severe bone spicule pigmentation; optic disk pallor; additional findings" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302355" "04214" "00410250" "00000" "Familial, autosomal recessive" "48y" "44y: best corrected visual acuity right, left eye: 6/300, 6/300; full field electroretinogram, light and dark adaptation: not done; funduscopy: bone spicule pigmentation; bull\'s eye maculopathy; 48y: best corrected visual acuity right, left eye: finger counting 10 cm, finger counting 10 cm; full field electroretinogram, light and dark adaptation: not done; funduscopy: severe bone spicule pigmentation; macular degeneration; severe macular scar" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302356" "04214" "00410251" "00000" "Familial, autosomal recessive" "68y" "68y: best corrected visual acuity right, left eye: no light perception; full field electroretinogram, light and dark adaptation: not done; funduscopy: severe bone spicule pigmentation; optic disk pallor; additional findings" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302358" "04214" "00410253" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity and refraction right, left eye: 20/50 (-1,75 sph -0,25 cyl 138deg), 20/630 (-2,5 sph -1,0 cyl 22deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 162.0 deg2 (right eye), 165.5 deg2 (left eye), small remaining island in the temporal periphery of 1012.7 deg2 (right eye), 1401.9 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; bull\'s eye maculopathy; optic disc pallor; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 154 um, 126 um" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302359" "04214" "00410254" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity and refraction right, left eye: 20/80 (-2,0 sph -0,75 cyl 42deg), 20/250 (-1,75 sph -1,0 cyl 175deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 1203.5 deg2 (right eye), 1528.0 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; patchy RPE-atrophy in the macula; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 104 um, 115 um" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000302360" "04214" "00410255" "00000" "Familial, autosomal recessive" "22y" "best corrected visual acuity and refraction right, left eye: 20/40 (-3,75 sph -1,0 cyl 179deg), 20/50 (-4,5 sph -1,0 cyl 157deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 269.2 deg2 (right eye), 265.8 deg2 (left eye), small remaining island in the temporal periphery of 392.4 deg2 (right eye), 405.1 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; bull\'s eye maculopathy; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 189 um, 202 um" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000320571" "00112" "00429699" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000336165" "00198" "00446966" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336187" "00198" "00446988" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336200" "00198" "00447001" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336202" "00198" "00447003" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000348611" "04214" "00461111" "00006" "Familial, autosomal recessive" "" "" "35y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000348625" "04214" "00461125" "00006" "Familial, autosomal recessive" "" "" "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
## Screenings ## Do not remove or alter this header ##
## Count = 46
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000001613" "00001810" "1" "00102" "00102" "2013-08-08 22:38:14" "" "" "SEQ-NG-I" "DNA" "" ""
"0000100525" "00100121" "1" "01769" "01769" "2017-01-30 21:29:35" "" "" "SEQ" "DNA" "WBC" ""
"0000234571" "00233472" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234572" "00233473" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234573" "00233474" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234574" "00233475" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234575" "00233476" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234896" "00233797" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000310447" "00309302" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000332503" "00331283" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel"
"0000336370" "00335141" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336450" "00335221" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel"
"0000363418" "00362189" "1" "00000" "00006" "2021-04-15 17:02:42" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364748" "00363520" "1" "00000" "00006" "2021-04-29 12:09:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000374610" "00373375" "1" "00000" "00006" "2021-05-14 10:24:46" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000376477" "00375280" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000382283" "00381069" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" ""
"0000382933" "00381717" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" ""
"0000386628" "00385399" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387468" "00386239" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000390095" "00388852" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper"
"0000390185" "00388942" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000390186" "00388943" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390187" "00388944" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000411503" "00410240" "1" "00000" "03840" "2022-05-21 09:23:26" "" "" "SEQp" "DNA" "blood" ""
"0000411504" "00410241" "1" "00000" "03840" "2022-05-21 09:23:26" "" "" "SEQp" "DNA" "blood" ""
"0000411506" "00410242" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411507" "00410243" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411508" "00410244" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411509" "00410245" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411510" "00410246" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411511" "00410247" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411512" "00410248" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411513" "00410249" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411514" "00410250" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411515" "00410251" "1" "00000" "03840" "2022-05-22 11:31:27" "" "" "SEQ" "DNA" "blood" ""
"0000411517" "00410253" "1" "00000" "03840" "2022-05-22 17:50:41" "" "" "SEQ-NG" "DNA" "blood" "high-throughput panel sequencing"
"0000411518" "00410254" "1" "00000" "03840" "2022-05-22 17:50:41" "" "" "SEQ-NG" "DNA" "blood" "high-throughput panel sequencing"
"0000411519" "00410255" "1" "00000" "03840" "2022-05-22 17:50:41" "" "" "SEQ-NG" "DNA" "blood" "high-throughput panel sequencing"
"0000431112" "00429699" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000448543" "00446966" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448565" "00446988" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448578" "00447001" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448580" "00447003" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000462743" "00461111" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462757" "00461125" "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 = 38
"{{screeningid}}" "{{geneid}}"
"0000100525" "PRCD"
"0000234571" "PRCD"
"0000234572" "PRCD"
"0000234573" "PRCD"
"0000234574" "PRCD"
"0000234575" "PRCD"
"0000234896" "PRCD"
"0000310447" "PRCD"
"0000332503" "PRCD"
"0000336370" "PRCD"
"0000336450" "PRCD"
"0000363418" "PRCD"
"0000364748" "PRCD"
"0000376477" "PRCD"
"0000382283" "PRCD"
"0000382933" "PRCD"
"0000386628" "PRCD"
"0000387468" "PRCD"
"0000390095" "PRCD"
"0000390185" "PRCD"
"0000390186" "PRCD"
"0000390187" "PRCD"
"0000411503" "PRCD"
"0000411504" "PRCD"
"0000411506" "PRCD"
"0000411507" "PRCD"
"0000411508" "PRCD"
"0000411509" "PRCD"
"0000411510" "PRCD"
"0000411511" "PRCD"
"0000411512" "PRCD"
"0000411513" "PRCD"
"0000411514" "PRCD"
"0000411515" "PRCD"
"0000411517" "PRCD"
"0000411518" "PRCD"
"0000411519" "PRCD"
"0000431112" "PRCD"
## 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 = 59
"{{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}}"
"0000019520" "0" "55" "17" "74536272" "74536272" "subst" "0.00284859" "00102" "PRCD_000001" "g.74536272C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.76540190C>T" "" "VUS" ""
"0000162824" "3" "90" "17" "74536225" "74536225" "subst" "4.42764E-6" "01769" "PRCD_000002" "g.74536225T>C" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.76540143T>C" "" "pathogenic" ""
"0000294278" "0" "10" "17" "74536668" "74536668" "subst" "0" "02330" "PRCD_000004" "g.74536668T>C" "" "" "" "PRCD(NM_001077620.3):c.143+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76540586T>C" "" "benign" ""
"0000297297" "0" "10" "17" "74539092" "74539092" "subst" "0.994896" "02325" "PRCD_000005" "g.74539092C>T" "" "" "" "PRCD(NM_001077620.3):c.*60-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76543010C>T" "" "benign" ""
"0000306251" "0" "50" "17" "74536236" "74536236" "subst" "0.000121753" "01943" "PRCD_000003" "g.74536236C>G" "" "" "" "PRCD(NM_001077620.2):c.13C>G (p.L5V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76540154C>G" "" "VUS" ""
"0000342286" "0" "90" "17" "74536287" "74536287" "subst" "2.20946E-5" "02327" "PRCD_000006" "g.74536287C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76540205C>T" "" "pathogenic" ""
"0000477279" "0" "50" "17" "74536221" "74536221" "subst" "0" "02591" "PRCD_000007" "g.74536221G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs370328118" "0" "" "" "g.76540139G>A" "" "VUS" ""
"0000477280" "0" "90" "17" "74536225" "74536225" "subst" "4.42764E-6" "02591" "PRCD_000002" "g.74536225T>C" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236092" "0" "" "" "g.76540143T>C" "" "pathogenic" ""
"0000477281" "0" "90" "17" "74536275" "74536275" "subst" "0" "02591" "PRCD_000008" "g.74536275C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527451635" "0" "" "" "g.76540193C>T" "" "pathogenic" ""
"0000477282" "3" "90" "17" "74536287" "74536287" "subst" "2.20946E-5" "02591" "PRCD_000006" "g.74536287C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs387907268" "0" "" "" "g.76540205C>T" "" "pathogenic" ""
"0000477283" "3" "90" "17" "74536298" "74536298" "subst" "0" "02591" "PRCD_000009" "g.74536298G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs779066277" "0" "" "" "g.76540216G>A" "" "pathogenic" ""
"0000477604" "3" "90" "17" "74536225" "74536225" "subst" "4.42764E-6" "02591" "PRCD_000002" "g.74536225T>C" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236092" "0" "" "" "g.76540143T>C" "" "pathogenic" ""
"0000563150" "0" "10" "17" "74536272" "74536272" "subst" "0.00284859" "02330" "PRCD_000001" "g.74536272C>T" "" "" "" "PRCD(NM_001077620.2):c.49C>T (p.R17C), PRCD(NM_001077620.3):c.49C>T (p.R17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76540190C>T" "" "benign" ""
"0000563151" "0" "10" "17" "74536272" "74536272" "subst" "0.00284859" "01943" "PRCD_000001" "g.74536272C>T" "" "" "" "PRCD(NM_001077620.2):c.49C>T (p.R17C), PRCD(NM_001077620.3):c.49C>T (p.R17C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76540190C>T" "" "benign" ""
"0000658253" "0" "10" "17" "74536311" "74536311" "subst" "0.00105328" "02330" "CYGB_000002" "g.74536311C>T" "" "" "" "PRCD(NM_001077620.3):c.74+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76540229C>T" "" "benign" ""
"0000685358" "0" "90" "17" "74536287" "74536287" "subst" "2.20946E-5" "00004" "PRCD_000006" "g.74536287C>T" "15/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000729758" "3" "90" "17" "74536225" "74536225" "subst" "4.42764E-6" "00000" "PRCD_000002" "g.74536225T>C" "" "{PMID:Maeda 2018:29785639}" "" "" "" "Germline" "" "rs527236092" "0" "" "" "g.76540143T>C" "" "pathogenic" ""
"0000735645" "0" "90" "17" "74536225" "74536225" "subst" "4.42764E-6" "00000" "PRCD_000002" "g.74536225T>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.76540143T>C" "" "pathogenic" ""
"0000735758" "0" "90" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.76540205C>T" "" "pathogenic" ""
"0000735825" "3" "70" "17" "74536293" "74536293" "subst" "0" "00000" "PRCD_000010" "g.74536293C>T" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.76540211C>T" "" "likely pathogenic" ""
"0000764056" "3" "70" "17" "74536298" "74536298" "subst" "0" "00000" "PRCD_000009" "g.74536298G>A" "" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Germline" "yes" "" "0" "" "" "g.76540216G>A" "" "likely pathogenic" ""
"0000765655" "3" "90" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Beheshtian 2015:26497376}" "" "" "" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "pathogenic (recessive)" ""
"0000785402" "1" "90" "17" "74536225" "74536225" "subst" "4.42764E-6" "00000" "PRCD_000002" "g.74536225T>C" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.76540143T>C" "" "pathogenic (recessive)" ""
"0000785410" "2" "90" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Van Huet 2015:25999674}" "" "" "" "Germline" "" "" "0" "" "" "g.76540205C>T" "" "pathogenic (recessive)" ""
"0000788085" "3" "90" "17" "74536225" "74536225" "subst" "4.42764E-6" "00000" "PRCD_000002" "g.74536225T>C" "" "{PMID:Oishi 2014:25324289}" "" "M1T" "" "Germline" "" "" "0" "" "" "g.76540143T>C" "" "pathogenic" ""
"0000796029" "3" "90" "17" "74536225" "74536225" "subst" "4.42764E-6" "00000" "PRCD_000002" "g.74536225T>C" "" "{PMID:Fu-2013:23661369}" "" "c.2T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796901" "3" "90" "17" "74536272" "74536272" "subst" "0.00284859" "00000" "PRCD_000001" "g.74536272C>T" "" "{PMID:Wang-2014:24154662}" "" "c.49C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000814266" "3" "70" "17" "74536297" "74536297" "subst" "0" "00000" "PRCD_000011" "g.74536297C>T" "" "{PMID:Chen 2020:31872526}" "" "PRCD:NM_001077620:exon1:c.74C>T:p.P25L" "homozygous" "Germline" "?" "" "0" "" "" "g.76540215C>T" "" "likely pathogenic" ""
"0000815352" "0" "90" "17" "74536614" "74536623" "dup" "0" "00000" "PRCD_000013" "g.74536614_74536623dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PRCD:NM_001077620 c.102_111dup, p.Ser38X" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.76540532_76540541dup" "" "pathogenic" "ACMG"
"0000815503" "0" "70" "17" "74536302" "74536302" "subst" "0" "00000" "PRCD_000012" "g.74536302G>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PRCD:NM_001077620 c.74+5G>C, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.76540220G>C" "" "likely pathogenic" "ACMG"
"0000819440" "1" "70" "17" "74536275" "74536275" "subst" "0" "00000" "PRCD_000008" "g.74536275C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.73C>A/p.P25T" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.76540193C>T" "" "likely pathogenic" ""
"0000819530" "1" "70" "17" "74536275" "74536275" "subst" "0" "00000" "PRCD_000008" "g.74536275C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.52C>T/p.R18*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.76540193C>T" "" "likely pathogenic" ""
"0000819531" "1" "70" "17" "74536275" "74536275" "subst" "0" "00000" "PRCD_000008" "g.74536275C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.52C>T/p.R18*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.76540193C>T" "" "likely pathogenic" ""
"0000819532" "1" "70" "17" "74536275" "74536275" "subst" "0" "00000" "PRCD_000008" "g.74536275C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.52C>T/p.R18*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.76540193C>T" "" "likely pathogenic" ""
"0000820648" "1" "70" "17" "74536296" "74536296" "subst" "0" "00000" "PRCD_000014" "g.74536296C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRCD, variant 1: c.52C>T/p.R18*, variant 2: c.73C>A/p.P25T" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.76540214C>A" "" "likely pathogenic" ""
"0000868639" "0" "70" "17" "74536600" "74536600" "subst" "4.06974E-5" "00000" "PRCD_000016" "g.74536600G>A" "" "{PMID:Zangerl 2006:16938425}" "" "PRCD" "single heterozygous variant in a recessive disease" "Germline" "yes" "" "0" "" "" "g.76540518G>A" "" "likely pathogenic" ""
"0000868640" "3" "70" "17" "74536228" "74536228" "subst" "0" "00000" "PRCD_000015" "g.74536228G>A" "" "{PMID:Zangerl 2006:16938425}" "" "PRCD" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540146G>A" "" "likely pathogenic" ""
"0000868642" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868643" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868644" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868645" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868646" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868647" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868648" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868649" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868650" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868651" "3" "70" "17" "74536287" "74536287" "subst" "2.20946E-5" "00000" "PRCD_000006" "g.74536287C>T" "" "{PMID:Nevet 2010:20507925}" "" "PRCD c.64C>T (p.R22X)" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540205C>T" "" "likely pathogenic" ""
"0000868654" "3" "70" "17" "74536275" "74536275" "subst" "0" "00000" "PRCD_000008" "g.74536275C>T" "" "{PMID:Pach 2013:23805042}" "" "PRCD c.52C>T, p.R18X" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540193C>T" "" "likely pathogenic" ""
"0000868655" "3" "70" "17" "74536275" "74536275" "subst" "0" "00000" "PRCD_000008" "g.74536275C>T" "" "{PMID:Pach 2013:23805042}" "" "PRCD c.52C>T, p.R18X" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540193C>T" "" "likely pathogenic" ""
"0000868656" "3" "70" "17" "74536275" "74536275" "subst" "0" "00000" "PRCD_000008" "g.74536275C>T" "" "{PMID:Pach 2013:23805042}" "" "PRCD c.52C>T, p.R18X" "homozygous" "Germline" "yes" "" "0" "" "" "g.76540193C>T" "" "likely pathogenic" ""
"0000894292" "0" "70" "17" "74536225" "74536225" "subst" "4.42764E-6" "02327" "PRCD_000002" "g.74536225T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000916079" "3" "90" "17" "74536287" "74536287" "subst" "2.20946E-5" "04436" "PRCD_000006" "g.74536287C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.64C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000958051" "3" "90" "17" "74536287" "74536287" "subst" "2.20946E-5" "00006" "PRCD_000006" "g.74536287C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.76540205C>T" "" "pathogenic (recessive)" "ACMG"
"0000958064" "3" "90" "17" "74536275" "74536275" "subst" "0" "00006" "PRCD_000008" "g.74536275C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.76540193C>T" "" "pathogenic (recessive)" "ACMG"
"0000958066" "3" "90" "17" "74536275" "74536275" "subst" "0" "00006" "PRCD_000008" "g.74536275C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.76540193C>T" "" "pathogenic (recessive)" "ACMG"
"0000958428" "0" "50" "17" "74536619" "74536619" "subst" "4.0704E-6" "00006" "PRCD_000017" "g.74536619G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.76540537G>A" "" "VUS" "ACMG"
"0001003704" "0" "30" "17" "74524651" "74524651" "subst" "0.446947" "01804" "CYGB_000003" "g.74524651T>G" "" "" "" "CYGB(NM_134268.4):c.*9A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001022294" "3" "70" "17" "74536225" "74536225" "subst" "4.42764E-6" "00006" "PRCD_000002" "g.74536225T>C" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs527236092" "0" "" "" "g.76540143T>C" "" "likely pathogenic" ""
"0001022308" "3" "70" "17" "74536225" "74536225" "subst" "4.42764E-6" "00006" "PRCD_000002" "g.74536225T>C" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs527236092" "0" "" "" "g.76540143T>C" "" "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 PRCD
## Count = 59
"{{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}}"
"0000019520" "00016771" "75" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17Cys)" "1"
"0000162824" "00016771" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1"
"0000294278" "00016771" "10" "143" "13" "143" "13" "c.143+13T>C" "r.(=)" "p.(=)" ""
"0000297297" "00016771" "10" "225" "-19" "225" "-19" "c.*60-19C>T" "r.(=)" "p.(=)" ""
"0000306251" "00016771" "50" "13" "0" "13" "0" "c.13C>G" "r.(?)" "p.(Leu5Val)" ""
"0000342286" "00016771" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22Ter)" ""
"0000477279" "00016771" "50" "-3" "0" "-3" "0" "c.-3G>A" "r.(=)" "p.(=)" ""
"0000477280" "00016771" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000477281" "00016771" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" ""
"0000477282" "00016771" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000477283" "00016771" "90" "74" "1" "74" "1" "c.74+1G>A" "r.spl?" "p.?" ""
"0000477604" "00016771" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000563150" "00016771" "10" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17Cys)" ""
"0000563151" "00016771" "10" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17Cys)" ""
"0000658253" "00016771" "10" "74" "14" "74" "14" "c.74+14C>T" "r.(=)" "p.(=)" ""
"0000685358" "00016771" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000729758" "00016771" "90" "2" "0" "2" "0" "c.2T>C" "p.?" "p.Met1?" ""
"0000735645" "00016771" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000735758" "00016771" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000735825" "00016771" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Gln24Ter)" ""
"0000764056" "00016771" "70" "74" "1" "74" "1" "c.74+1G>A" "r.spl" "p.?" ""
"0000765655" "00016771" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22Ter)" "1"
"0000785402" "00016771" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000785410" "00016771" "90" "" "0" "" "0" "
c.64C>T" "r.(?)" "p.(Arg22Ter)" ""
"0000788085" "00016771" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000796029" "00016771" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "1"
"0000796901" "00016771" "90" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17Cys)" "1"
"0000814266" "00016771" "70" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "1"
"0000815352" "00016771" "90" "102" "0" "111" "0" "c.102_111dup" "r.(?)" "p.(Ser38*)" ""
"0000815503" "00016771" "70" "74" "5" "74" "5" "c.74+5G>C" "r.spl?" "p.(?)" ""
"0000819440" "00016771" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" ""
"0000819530" "00016771" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" ""
"0000819531" "00016771" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" ""
"0000819532" "00016771" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" ""
"0000820648" "00016771" "70" "73" "0" "73" "0" "c.73C>A" "r.(?)" "p.(Pro25Thr)" ""
"0000868639" "00016771" "70" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" ""
"0000868640" "00016771" "70" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Cys2Tyr)" ""
"0000868642" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868643" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868644" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868645" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868646" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868647" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868648" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868649" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868650" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868651" "00016771" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" ""
"0000868654" "00016771" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "1"
"0000868655" "00016771" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "1"
"0000868656" "00016771" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18*)" "1"
"0000894292" "00016771" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000916079" "00016771" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22*)" "1"
"0000958051" "00016771" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Arg22Ter)" ""
"0000958064" "00016771" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Ter)" ""
"0000958066" "00016771" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Ter)" ""
"0000958428" "00016771" "50" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Gly36Asp)" ""
"0001003704" "00016771" "30" "-11573" "0" "-11573" "0" "c.-11573T>G" "r.(?)" "p.(=)" ""
"0001022294" "00016771" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0001022308" "00016771" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 50
"{{screeningid}}" "{{variantid}}"
"0000001613" "0000019520"
"0000100525" "0000162824"
"0000234571" "0000477279"
"0000234572" "0000477280"
"0000234573" "0000477281"
"0000234574" "0000477282"
"0000234575" "0000477283"
"0000234896" "0000477604"
"0000310447" "0000685358"
"0000332503" "0000729758"
"0000336370" "0000735645"
"0000336370" "0000735758"
"0000336450" "0000735825"
"0000363418" "0000764056"
"0000364748" "0000765655"
"0000374610" "0000785402"
"0000374610" "0000785410"
"0000376477" "0000788085"
"0000382283" "0000796029"
"0000382933" "0000796901"
"0000386628" "0000814266"
"0000387468" "0000815352"
"0000387468" "0000815503"
"0000390095" "0000819440"
"0000390095" "0000820648"
"0000390185" "0000819530"
"0000390186" "0000819531"
"0000390187" "0000819532"
"0000411503" "0000868639"
"0000411504" "0000868640"
"0000411506" "0000868642"
"0000411507" "0000868643"
"0000411508" "0000868644"
"0000411509" "0000868645"
"0000411510" "0000868646"
"0000411511" "0000868647"
"0000411512" "0000868648"
"0000411513" "0000868649"
"0000411514" "0000868650"
"0000411515" "0000868651"
"0000411517" "0000868654"
"0000411518" "0000868655"
"0000411519" "0000868656"
"0000431112" "0000916079"
"0000448543" "0000958428"
"0000448565" "0000958051"
"0000448578" "0000958064"
"0000448580" "0000958066"
"0000462743" "0001022294"
"0000462757" "0001022308"