### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRPF6) # 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}}" "PRPF6" "PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)" "20" "q13.33" "unknown" "NG_029719.1" "UD_132118437890" "" "https://www.LOVD.nl/PRPF6" "" "1" "15860" "24148" "613979" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PRPF6_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2020-11-25 19:54:09" "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}}" "00016898" "PRPF6" "PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)" "001" "NM_012469.3" "" "NP_036601.2" "" "" "" "-168" "2933" "2826" "62612431" "62664453" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "03505" "RP60" "retinitis pigmentosa, type 60 (RP60)" "AD" "613983" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04448" "CLN4B" "lipofuscinosis, ceroid, neuronal, type 4, Parry type (CLN-4B)" "AD" "162350" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRPF6" "03505" ## Individuals ## Do not remove or alter this header ## ## Count = 41 "{{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}}" "00104700" "" "" "" "22" "" "00006" "{PMID:Boehme 1971:5132971}, {PMID:Velinov 2012:22235333}, {DOI:Velinov 2012:10.1371/journal.pone.0029729}" "7-generation family, 22 affecteds (13F, 9M)" "F;M" "no" "United States" "" "0" "" "" "" "22235333-FamParry" "00233526" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233527" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233528" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233529" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233530" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233531" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233532" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233533" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00292972" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309312" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328395" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690302" "00328396" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680402" "00328397" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690509" "00334427" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-068" "00334428" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-081" "00372705" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP058" "00374940" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W74-1" "00374942" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W44-1" "00375339" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6283" "00375416" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#008" "00376746" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "41" "00377412" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00379405" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379406" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379407" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00385414" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "F" "" "Taiwan" "" "0" "" "" "" "F25-II-2" "00386189" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-303" "00386851" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI717_001428" "00392360" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19479" "00394491" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00395878" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F111" "00416300" "" "" "" "1" "" "00000" "{PMID:Tanackovic 2011:21549338}" "" "M" "" "" "" "0" "" "" "" "001-173, IV-1" "00416301" "" "" "" "1" "" "00000" "{PMID:Tanackovic 2011:21549338}" "" "M" "" "" "" "0" "" "" "" "218-479, IV:2" "00416302" "" "" "" "1" "" "00000" "{PMID:Zhou 2020:32335390}" "induced pluripotent stem cell line derived by reprogramming peripheral blood mononuclear cells of a PRPF6-related dominant retinitis pigmentosa patient" "M" "" "" "" "0" "" "" "" "CSUASOi004-A" "00420459" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F111" "00429657" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429752" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00438693" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0719" "00446928" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP-221-1" "00446929" "" "" "00446928" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "ADRP-221-2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00104700" "04448" "00233526" "04214" "00233527" "04214" "00233528" "04214" "00233529" "04214" "00233530" "04214" "00233531" "04214" "00233532" "04214" "00233533" "04214" "00292972" "00198" "00309312" "04214" "00328395" "04214" "00328396" "04214" "00328397" "04214" "00334427" "04214" "00334428" "04214" "00372705" "04214" "00374940" "04214" "00374942" "04214" "00375339" "04214" "00375416" "04214" "00376746" "04214" "00377412" "04214" "00379405" "04214" "00379406" "04214" "00379407" "04214" "00385414" "04214" "00386189" "04214" "00386851" "04214" "00392360" "04214" "00394491" "04214" "00395878" "04214" "00416300" "04214" "00416301" "04214" "00416302" "04214" "00420459" "04214" "00429657" "00112" "00429752" "00112" "00438693" "06906" "00446928" "00198" "00446929" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 03505, 04214, 04448, 06906 ## Count = 32 "{{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}}" "0000082615" "04448" "00104700" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000234632" "04214" "00309312" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246621" "04214" "00328395" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246622" "04214" "00328396" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246623" "04214" "00328397" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000252516" "04214" "00334427" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252517" "04214" "00334428" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267984" "04214" "00372705" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270150" "04214" "00374940" "00000" "Familial, autosomal dominant" "62y" "best corrected visual acuity 0.25/0.25" "22y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270152" "04214" "00374942" "00000" "Familial, autosomal dominant" "49y" "best corrected visual acuity 0.04/0.04" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270553" "04214" "00375339" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270630" "04214" "00375416" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271957" "04214" "00376746" "00000" "Familial, autosomal dominant" "7y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, bone spicules, optic disc pallor, nyctalopia," "" "0000272562" "04214" "00377412" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP60" "retinitis pigmentosa" "" "0000273278" "04214" "00379405" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273279" "04214" "00379406" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273280" "04214" "00379407" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000279210" "04214" "00385414" "00000" "Familial, autosomal dominant" "49y" "49" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279992" "04214" "00386189" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280651" "04214" "00386851" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000285636" "04214" "00392360" "00000" "Familial, autosomal dominant" "48y" "best corrected visual acuity right/left eye: 0.2/0.2, electroretinograhy responses: not available" "38y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000287694" "04214" "00394491" "00000" "Familial, autosomal dominant" "75y" "" "58y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000289040" "04214" "00395878" "00000" "Unknown" "58y2m" "" "50y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308067" "04214" "00416300" "00000" "Familial, autosomal dominant" "56y" "37y: night vision deficiency and loss of side vision; best-corrected visual acuity right, left eye: 20/30, 20/40; slit-lamp examination central posterior subcapsular cataracts both eyes; fundus: normal optic disc, some atrophy just temporal to the disc, clear macula, attenuated retinal arterioles, and bone spicule pigment 360deg around the periphery; final dark adaptation threshold elevated 3.0 log units; Goldmann visual field: in a V-4e white test light constricted to a 25deg diameter with a peripheral crescent in each eye; full-field electroretinograms:(electroretinograms): substantially reduced, and he had dark-adapted mixed cone-rod responses to 0.5 Hz white light right/left eye: 5.6 uV / 4.9 uV (lower norm = 350 uV) and cone responses to 30 Hz white flicker of 0.4 uV right eyeand 0.7 uV left eye(lower norm = 50 uV); 47y: cataract surgery left eye. 48y right eye; reoperation 49y - extensive inflammation, acuity never recovered right eye; left eye acuity. gradually decreased, also further loss of peripheral vision both eyes; best-corrected visual acuity right, left eye: hand motions, 20/100; slit-lamp examination: pseudophakia both eyes; fundus: waxy pallor of each disc, atrophy of the retinal pigment epithelium and prominent choroidal vessels in each macula, attenuated retinal vessels, and bone spicule pigment visible in the midperiphery; final dark-adaptation threshold elevated 5.0 log units; visual field constricted by confrontation to about a 10deg diameter right eye and a 20deg diameter left eye; full-field electroretinograms in response to 0.5-Hz white light: non-detectable (i.e., less than 1.0 uV), reduced to 0.26 uV right eye and 0.15 uV left eye in response to 30 Hz white flicker. (virtual blindness, i.e., loss of the ability to walk independently in a well-lighted room, occurs when 30 Hz cone flicker electroretinogram responses are <=0.05 uV)" "37y" "" "night vision deficiency and loss of side vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308068" "04214" "00416301" "00000" "Familial, autosomal dominant" "54y" "night vision deficiency since age 16 and loss of side vision in his 40; worse than in proband, vision gradually decreased to light perception in both eyes by age 54" "16y" "" "night vision deficiency" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308069" "04214" "00416302" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311707" "04214" "00420459" "00000" "Familial, autosomal dominant" "58y2m" "" "50y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000320529" "00112" "00429657" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320624" "00112" "00429752" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328596" "06906" "00438693" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000336127" "00198" "00446928" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336128" "00198" "00446929" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" ## Screenings ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105172" "00104700" "1" "00006" "00006" "2017-05-19 17:36:15" "" "" "SEQ" "DNA" "" "" "0000234625" "00233526" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234626" "00233527" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234627" "00233528" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234628" "00233529" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234629" "00233530" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234630" "00233531" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234631" "00233532" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234632" "00233533" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000294140" "00292972" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310457" "00309312" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329609" "00328395" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329610" "00328396" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329611" "00328397" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000335656" "00334427" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335657" "00334428" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000373937" "00372705" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376134" "00374940" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376136" "00374942" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376536" "00375339" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376613" "00375416" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377952" "00376746" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378615" "00377412" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000380605" "00379405" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380606" "00379406" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380607" "00379407" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000386643" "00385414" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387418" "00386189" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388079" "00386851" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000393602" "00392360" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000395738" "00394491" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397117" "00395878" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000417580" "00416300" "1" "00000" "03840" "2022-08-26 13:40:12" "" "" "SEQ" "DNA" "blood" "" "0000417581" "00416301" "1" "00000" "03840" "2022-08-26 13:40:12" "" "" "SEQ" "DNA" "blood" "" "0000417582" "00416302" "1" "00000" "03840" "2022-08-26 13:50:48" "" "" "?" "DNA" "blood" "" "0000421768" "00420459" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000431070" "00429657" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431165" "00429752" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000440175" "00438693" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000448505" "00446928" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448506" "00446929" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{geneid}}" "0000105172" "DNAJC5" "0000105172" "PRPF6" "0000234625" "PRPF6" "0000234626" "PRPF6" "0000234627" "PRPF6" "0000234628" "PRPF6" "0000234629" "PRPF6" "0000234630" "PRPF6" "0000234631" "PRPF6" "0000234632" "PRPF6" "0000310457" "PRPF6" "0000329609" "PRPF6" "0000329610" "PRPF6" "0000329611" "PRPF6" "0000335656" "PRPF6" "0000335657" "PRPF6" "0000376536" "PRPF6" "0000378615" "PRPF6" "0000380605" "PRPF6" "0000380606" "PRPF6" "0000380607" "PRPF6" "0000386643" "PRPF6" "0000387418" "C2orf71" "0000388079" "PRPF6" "0000393602" "PRPF6" "0000395738" "PRPF6" "0000397117" "PRPF6" "0000417580" "PRPF6" "0000417581" "PRPF6" "0000417582" "PRPF6" "0000421768" "PRPF6" "0000431070" "PRPF6" "0000431165" "PRPF6" ## 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 = 97 "{{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}}" "0000170446" "1" "70" "20" "62642762" "62642762" "subst" "0" "00006" "PRPF6_000001" "g.62642762A>G" "" "{PMID:Velinov 2012:22235333}, {DOI:Velinov 2012:10.1371/journal.pone.0029729}" "" "A1430G (Asn477Ser)" "not present in 2,100 controls" "Germline" "yes" "" "0" "" "" "g.64011409A>G" "" "likely pathogenic" "" "0000253508" "0" "10" "20" "62614448" "62614448" "subst" "0.00397164" "01943" "PRPF6_000005" "g.62614448A>G" "" "" "" "PRPF6(NM_012469.3):c.120A>G (p.A40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63983095A>G" "" "benign" "" "0000254581" "0" "30" "20" "62664275" "62664275" "subst" "2.03673E-5" "01943" "PRPF6_000025" "g.62664275A>G" "" "" "" "PRPF6(NM_012469.3):c.2755A>G (p.I919V), PRPF6(NM_012469.4):c.2755A>G (p.(Ile919Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64032922A>G" "" "likely benign" "" "0000294485" "0" "10" "20" "62654101" "62654101" "subst" "0.000694552" "02330" "PRPF6_000013" "g.62654101C>G" "" "" "" "PRPF6(NM_012469.4):c.1648-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64022748C>G" "" "benign" "" "0000294486" "0" "10" "20" "62657376" "62657376" "subst" "0.000197788" "02330" "PRPF6_000014" "g.62657376C>T" "" "" "" "PRPF6(NM_012469.4):c.1993C>T (p.L665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64026023C>T" "" "benign" "" "0000294487" "0" "10" "20" "62659820" "62659820" "subst" "0.00205745" "02330" "PRPF6_000017" "g.62659820T>C" "" "" "" "PRPF6(NM_012469.4):c.2340-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64028467T>C" "" "benign" "" "0000294488" "0" "10" "20" "62659931" "62659931" "del" "0" "02330" "PRPF6_000018" "g.62659931del" "" "" "" "PRPF6(NM_012469.4):c.2431+9delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64028578del" "" "benign" "" "0000294489" "0" "10" "20" "62660859" "62660859" "subst" "0.00232199" "02330" "PRPF6_000020" "g.62660859C>T" "" "" "" "PRPF6(NM_012469.4):c.2546+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64029506C>T" "" "benign" "" "0000294490" "0" "10" "20" "62663340" "62663340" "subst" "0.000467009" "02330" "PRPF6_000021" "g.62663340G>A" "" "" "" "PRPF6(NM_012469.4):c.2616G>A (p.S872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64031987G>A" "" "benign" "" "0000294491" "0" "10" "20" "62664184" "62664184" "subst" "0.00075339" "02330" "PRPF6_000022" "g.62664184G>T" "" "" "" "PRPF6(NM_012469.4):c.2674-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64032831G>T" "" "benign" "" "0000294492" "0" "50" "20" "62664218" "62664218" "subst" "2.06803E-5" "02330" "PRPF6_000023" "g.62664218C>T" "" "" "" "PRPF6(NM_012469.4):c.2698C>T (p.R900C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64032865C>T" "" "VUS" "" "0000294493" "0" "30" "20" "62612640" "62612640" "subst" "0.00149445" "02330" "PRPF6_000002" "g.62612640C>T" "" "" "" "PRPF6(NM_012469.4):c.42C>T (p.P14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63981287C>T" "" "likely benign" "" "0000294494" "0" "10" "20" "62612658" "62612658" "subst" "0" "02330" "PRPF6_000003" "g.62612658G>T" "" "" "" "PRPF6(NM_012469.4):c.60G>T (p.G20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63981305G>T" "" "benign" "" "0000294495" "0" "10" "20" "62630427" "62630427" "subst" "0.000378135" "02330" "PRPF6_000008" "g.62630427C>T" "" "" "" "PRPF6(NM_012469.4):c.801C>T (p.V267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63999074C>T" "" "benign" "" "0000294496" "0" "10" "20" "62630980" "62630980" "subst" "0.000801458" "02330" "PRPF6_000009" "g.62630980C>T" "" "" "" "PRPF6(NM_012469.4):c.891C>T (p.L297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63999627C>T" "" "benign" "" "0000297383" "0" "10" "20" "62659937" "62659937" "subst" "0.123724" "02325" "PRPF6_000019" "g.62659937C>T" "" "" "" "PRPF6(NM_012469.4):c.2431+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64028584C>T" "" "benign" "" "0000297384" "0" "10" "20" "62612675" "62612675" "subst" "0.124409" "02325" "PRPF6_000004" "g.62612675G>A" "" "" "" "PRPF6(NM_012469.4):c.71+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63981322G>A" "" "benign" "" "0000306467" "0" "30" "20" "62632543" "62632543" "subst" "0.000259896" "01943" "PRPF6_000010" "g.62632543C>T" "" "" "" "PRPF6(NM_012469.3):c.1137C>T (p.A379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64001190C>T" "" "likely benign" "" "0000306468" "0" "30" "20" "62642676" "62642676" "subst" "4.06081E-6" "01943" "PRPF6_000011" "g.62642676T>C" "" "" "" "PRPF6(NM_012469.3):c.1344T>C (p.N448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64011323T>C" "" "likely benign" "" "0000306469" "0" "30" "20" "62642781" "62642781" "subst" "0.00987288" "01943" "PRPF6_000012" "g.62642781G>A" "" "" "" "PRPF6(NM_012469.3):c.1449G>A (p.V483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64011428G>A" "" "likely benign" "" "0000306470" "0" "50" "20" "62657400" "62657400" "subst" "0" "01943" "PRPF6_000015" "g.62657400C>T" "" "" "" "PRPF6(NM_012469.3):c.2017C>T (p.P673S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64026047C>T" "" "VUS" "" "0000306471" "0" "30" "20" "62659078" "62659078" "subst" "0.000414287" "01943" "PRPF6_000016" "g.62659078C>T" "" "" "" "PRPF6(NM_012469.3):c.2328C>T (p.N776=), PRPF6(NM_012469.4):c.2328C>T (p.N776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64027725C>T" "" "likely benign" "" "0000306472" "0" "50" "20" "62664263" "62664263" "subst" "0.00064423" "01943" "PRPF6_000024" "g.62664263G>A" "" "" "" "PRPF6(NM_012469.3):c.2743G>A (p.V915M), PRPF6(NM_012469.4):c.2743G>A (p.V915M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64032910G>A" "" "VUS" "" "0000306473" "0" "50" "20" "62626428" "62626428" "subst" "1.21845E-5" "01943" "PRPF6_000007" "g.62626428G>C" "" "" "" "PRPF6(NM_012469.3):c.598G>C (p.V200L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63995075G>C" "" "VUS" "" "0000342937" "0" "50" "20" "62642701" "62642701" "subst" "0" "02327" "PRPF6_000027" "g.62642701C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64011348C>T" "" "VUS" "" "0000351312" "0" "50" "20" "62612676" "62612676" "subst" "1.1023E-5" "02327" "PRPF6_000026" "g.62612676C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63981323C>T" "" "VUS" "" "0000477333" "0" "90" "20" "62626344" "62626344" "subst" "4.06075E-6" "02591" "PRPF6_000028" "g.62626344C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs369787039" "0" "" "" "g.63994991C>T" "" "pathogenic" "" "0000477334" "0" "50" "20" "62626368" "62626368" "subst" "0" "02591" "PRPF6_000029" "g.62626368A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.63995015A>C" "" "VUS" "" "0000477335" "0" "50" "20" "62626444" "62626444" "subst" "0" "02591" "PRPF6_000030" "g.62626444C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.63995091C>G" "" "VUS" "" "0000477336" "0" "50" "20" "62642669" "62642669" "subst" "4.06085E-6" "02591" "PRPF6_000031" "g.62642669A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs776953711" "0" "" "" "g.64011316A>G" "" "VUS" "" "0000477337" "0" "50" "20" "62659002" "62659002" "subst" "8.12117E-6" "02591" "PRPF6_000032" "g.62659002G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs745862108" "0" "" "" "g.64027649G>A" "" "VUS" "" "0000477338" "0" "50" "20" "62660789" "62660789" "subst" "1.62569E-5" "02591" "PRPF6_000033" "g.62660789G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs749610328" "0" "" "" "g.64029436G>A" "" "VUS" "" "0000477339" "0" "50" "20" "62663339" "62663339" "subst" "1.21832E-5" "02591" "PRPF6_000034" "g.62663339C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs767793133" "0" "" "" "g.64031986C>T" "" "VUS" "" "0000477340" "0" "50" "20" "62664326" "62664326" "subst" "0.000101896" "02591" "PRPF6_000035" "g.62664326C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs550433087" "0" "" "" "g.64032973C>T" "" "VUS" "" "0000570373" "0" "10" "20" "62616241" "62616241" "subst" "0.000347122" "02330" "PRPF6_000036" "g.62616241C>T" "" "" "" "PRPF6(NM_012469.4):c.241-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63984888C>T" "" "benign" "" "0000570374" "0" "10" "20" "62624793" "62624793" "subst" "1.21827E-5" "02330" "PRPF6_000037" "g.62624793T>C" "" "" "" "PRPF6(NM_012469.4):c.393T>C (p.Y131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63993440T>C" "" "benign" "" "0000570375" "0" "10" "20" "62626388" "62626388" "subst" "5.27876E-5" "02330" "PRPF6_000038" "g.62626388C>T" "" "" "" "PRPF6(NM_012469.4):c.558C>T (p.F186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63995035C>T" "" "benign" "" "0000570376" "0" "10" "20" "62626461" "62626461" "subst" "0.00202047" "02330" "PRPF6_000039" "g.62626461A>T" "" "" "" "PRPF6(NM_012469.4):c.615+16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63995108A>T" "" "benign" "" "0000570377" "0" "30" "20" "62630406" "62630406" "subst" "3.25677E-5" "02330" "PRPF6_000040" "g.62630406C>T" "" "" "" "PRPF6(NM_012469.3):c.780C>T (p.D260=), PRPF6(NM_012469.4):c.780C>T (p.D260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63999053C>T" "" "likely benign" "" "0000570378" "0" "10" "20" "62630947" "62630947" "subst" "0" "02330" "PRPF6_000041" "g.62630947C>T" "" "" "" "PRPF6(NM_012469.4):c.867-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63999594C>T" "" "benign" "" "0000570379" "0" "30" "20" "62632557" "62632557" "subst" "6.90367E-5" "01943" "PRPF6_000042" "g.62632557C>T" "" "" "" "PRPF6(NM_012469.3):c.1151C>T (p.T384M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64001204C>T" "" "likely benign" "" "0000570380" "0" "10" "20" "62641620" "62641620" "subst" "0" "02330" "PRPF6_000043" "g.62641620T>C" "" "" "" "PRPF6(NM_012469.4):c.1254T>C (p.D418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64010267T>C" "" "benign" "" "0000570382" "0" "30" "20" "62654199" "62654199" "subst" "3.65601E-5" "02330" "PRPF6_000045" "g.62654199C>T" "" "" "" "PRPF6(NM_012469.4):c.1737C>T (p.R579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64022846C>T" "" "likely benign" "" "0000570383" "0" "30" "20" "62659930" "62659930" "subst" "1.63914E-5" "02330" "PRPF6_000046" "g.62659930G>T" "" "" "" "PRPF6(NM_012469.4):c.2431+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64028577G>T" "" "likely benign" "" "0000570384" "0" "50" "20" "62660772" "62660772" "subst" "0" "01943" "PRPF6_000047" "g.62660772A>G" "" "" "" "PRPF6(NM_012469.3):c.2474A>G (p.Q825R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64029419A>G" "" "VUS" "" "0000570385" "0" "50" "20" "62664208" "62664208" "subst" "9.60294E-5" "02327" "PRPF6_000048" "g.62664208G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64032855G>T" "" "VUS" "" "0000618303" "0" "50" "20" "62654090" "62654090" "subst" "4.06204E-6" "02330" "PRPF6_000049" "g.62654090C>T" "" "" "" "PRPF6(NM_012469.4):c.1648-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64022737C>T" "" "VUS" "" "0000618304" "0" "30" "20" "62659087" "62659087" "subst" "0" "02330" "PRPF6_000051" "g.62659087G>C" "" "" "" "PRPF6(NM_012469.4):c.2337G>C (p.L779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64027734G>C" "" "likely benign" "" "0000624194" "0" "30" "20" "62655974" "62655974" "subst" "4.07179E-6" "01943" "PRPF6_000050" "g.62655974C>T" "" "" "" "PRPF6(NM_012469.3):c.1836C>T (p.L612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64024621C>T" "" "likely benign" "" "0000650829" "1" "50" "20" "62664263" "62664263" "subst" "0.00064423" "03575" "PRPF6_000024" "g.62664263G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139778757}" "Germline" "" "rs139778757" "0" "" "" "g.64032910G>A" "" "VUS" "" "0000681696" "0" "50" "20" "62663287" "62663287" "subst" "1.21831E-5" "01943" "PRPF6_000052" "g.62663287C>T" "" "" "" "PRPF6(NM_012469.3):c.2563C>T (p.R855W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685368" "0" "90" "20" "62664342" "62664344" "del" "0" "00004" "PRPF6_000053" "g.62664342_62664344del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.2822_2824delTCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000693024" "0" "50" "20" "62659898" "62659898" "subst" "8.1406E-6" "02327" "PRPF6_000054" "g.62659898G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000713957" "1" "70" "20" "62616333" "62616333" "subst" "4.06464E-6" "00000" "PRPF6_000055" "g.62616333A>G" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.63984980A>G" "" "likely pathogenic (dominant)" "" "0000713958" "1" "70" "20" "62658507" "62658507" "del" "0" "00000" "PRPF6_000056" "g.62658507del" "" "{PMID:Zhou 2018:29453956}" "" "2201delA" "" "Germline" "" "" "0" "" "" "g.64027154del" "" "likely pathogenic (dominant)" "" "0000713959" "1" "70" "20" "62663287" "62663287" "subst" "1.21831E-5" "00000" "PRPF6_000052" "g.62663287C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.64031934C>T" "" "likely pathogenic (dominant)" "" "0000727861" "0" "30" "20" "62630472" "62630472" "subst" "8.13445E-6" "01943" "PRPF6_000057" "g.62630472G>A" "" "" "" "PRPF6(NM_012469.3):c.846G>A (p.P282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734350" "0" "70" "20" "62642827" "62642827" "subst" "0" "00000" "PRPF6_000059" "g.62642827G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.64011474G>A" "" "likely pathogenic" "" "0000734351" "0" "70" "20" "62626372" "62626372" "subst" "0" "00000" "PRPF6_000058" "g.62626372C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.63995019C>T" "" "likely pathogenic" "" "0000784428" "0" "50" "20" "62632562" "62632562" "subst" "0" "00000" "PRPF6_000060" "g.62632562A>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.64001209A>G" "" "VUS" "" "0000787667" "1" "70" "20" "62626344" "62626344" "subst" "4.06075E-6" "00000" "PRPF6_000028" "g.62626344C>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63994991C>T" "" "likely pathogenic" "" "0000787669" "1" "70" "20" "62626381" "62626381" "subst" "0" "00000" "PRPF6_000061" "g.62626381A>G" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63995028A>G" "" "likely pathogenic" "" "0000788144" "1" "70" "20" "62626380" "62626380" "subst" "0" "00000" "PRPF6_000063" "g.62626380G>C" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.63995027G>C" "" "likely pathogenic" "" "0000788399" "0" "50" "20" "62626326" "62626326" "subst" "0" "00000" "PRPF6_000062" "g.62626326G>T" "" "{PMID:Katagiri 2014:25268133}" "" "G496T" "" "Germline" "" "" "0" "" "" "g.63994973G>T" "" "VUS" "" "0000790456" "2" "50" "20" "62659931" "62659931" "del" "0" "00000" "PRPF6_000018" "g.62659931del" "" "{PMID:Wang 2014:25097241}" "" "c.2431+9delG" "" "Germline" "" "" "0" "" "" "g.64028578del" "" "VUS" "" "0000790457" "0" "50" "20" "62630949" "62630949" "subst" "0" "00000" "PRPF6_000064" "g.62630949C>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.63999596C>G" "" "VUS" "" "0000791464" "0" "70" "20" "62659090" "62659090" "subst" "0" "00000" "PRPF6_000065" "g.62659090G>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.64027737G>A" "" "likely pathogenic" "" "0000793757" "0" "70" "20" "62616333" "62616333" "subst" "4.06464E-6" "00000" "PRPF6_000055" "g.62616333A>G" "" "{PMID:Zhou-2011:21677794}" "" "c.314A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793758" "0" "70" "20" "62658507" "62658507" "del" "0" "00000" "PRPF6_000056" "g.62658507del" "" "{PMID:Zhou-2011:21677794}" "" "c.2201delA" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793759" "0" "70" "20" "62663287" "62663287" "subst" "1.21831E-5" "00000" "PRPF6_000052" "g.62663287C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.2563C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000809351" "0" "30" "20" "62630406" "62630406" "subst" "3.25677E-5" "01943" "PRPF6_000040" "g.62630406C>T" "" "" "" "PRPF6(NM_012469.3):c.780C>T (p.D260=), PRPF6(NM_012469.4):c.780C>T (p.D260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809352" "0" "30" "20" "62642633" "62642633" "subst" "4.06312E-5" "01943" "PRPF6_000066" "g.62642633C>T" "" "" "" "PRPF6(NM_012469.3):c.1306-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809353" "0" "30" "20" "62659078" "62659078" "subst" "0.000414287" "02330" "PRPF6_000016" "g.62659078C>T" "" "" "" "PRPF6(NM_012469.3):c.2328C>T (p.N776=), PRPF6(NM_012469.4):c.2328C>T (p.N776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000814281" "0" "50" "20" "62659937" "62659958" "dup" "2.0413E-5" "00000" "PRPF6_000067" "g.62659937_62659958dup" "" "{PMID:Chen 2020:31872526}" "" "PRPF6:NM_012469:exon18:c.2426_2431+16dup:p.N809fs" "error in annotation:c.2426_2431+16dup normalised to NM_012469.3:c.2431+15_2431+36dup, splicing change unknown; heterozygous" "Germline" "?" "" "0" "" "" "g.64028584_64028605dup" "" "VUS" "" "0000815585" "0" "50" "20" "62664263" "62664263" "subst" "0.00064423" "00000" "PRPF6_000024" "g.62664263G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PRPF6:NM_012469 c.G2743A, p.V915M" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.64032910G>A" "" "VUS" "ACMG" "0000816237" "0" "50" "20" "62626380" "62626380" "subst" "0" "00000" "PRPF6_000068" "g.62626380G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPF6 c.550G>A, p.Asp184Asn" "Conflicting in silico model predictions, heterozygous" "Unknown" "?" "" "0" "" "" "g.63995027G>A" "" "VUS" "" "0000824382" "0" "90" "20" "62626344" "62626344" "subst" "4.06075E-6" "00000" "PRPF6_000028" "g.62626344C>T" "" "{PMID:Xiao-2021:33598457}" "" "PRPF6 c.514C>T, p.(R172W)" "" "Unknown" "?" "" "0" "" "" "g.63994991C>T" "" "pathogenic" "ACMG" "0000827140" "0" "50" "20" "62641666" "62641666" "subst" "1.22263E-5" "00000" "PRPF6_000069" "g.62641666G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.1300G>A" "" "Germline" "" "rs753357562" "0" "" "" "" "" "VUS" "" "0000828863" "0" "50" "20" "62664219" "62664219" "subst" "5.77834E-5" "00000" "PRPF6_000070" "g.62664219G>A" "" "{PMID:Chen 2021:43360855}" "" "PRPF6 c.[2699G>A];[2699=], V1: c.2699G>A, (p.Arg900His)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.64032866G>A" "" "VUS" "ACMG" "0000866594" "0" "30" "20" "62631097" "62631097" "subst" "4.07339E-6" "01943" "PRPF6_000071" "g.62631097G>A" "" "" "" "PRPF6(NM_012469.3):c.1008G>A (p.T336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866595" "0" "10" "20" "62660758" "62660758" "subst" "0.00104493" "02330" "PRPF6_000072" "g.62660758C>T" "" "" "" "PRPF6(NM_012469.4):c.2460C>T (p.L820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000877298" "20" "70" "20" "62658491" "62658491" "subst" "4.06951E-6" "00000" "PRPF6_000073" "g.62658491C>T" "" "{PMID:Tanackovic 2011:21549338}" "" "PRPF6" "heterozygous" "Germline" "yes" "" "0" "" "" "g.64027138C>T" "" "likely pathogenic" "" "0000877299" "20" "70" "20" "62658491" "62658491" "subst" "4.06951E-6" "00000" "PRPF6_000073" "g.62658491C>T" "" "{PMID:Tanackovic 2011:21549338}" "" "PRPF6" "heterozygous" "Germline" "yes" "" "0" "" "" "g.64027138C>T" "" "likely pathogenic" "" "0000877300" "0" "70" "20" "62664219" "62664219" "subst" "5.77834E-5" "00000" "PRPF6_000070" "g.62664219G>A" "" "{PMID:Zhou 2020:32335390}" "" "PRPF6 c.G2699A:p.R900H" "heterozygous" "In vitro (cloned)" "yes" "" "0" "" "" "g.64032866G>A" "" "likely pathogenic" "" "0000895440" "0" "30" "20" "62612659" "62612659" "subst" "0.00014139" "02330" "PRPF6_000074" "g.62612659C>T" "" "" "" "PRPF6(NM_012469.4):c.61C>T (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895441" "0" "30" "20" "62616301" "62616301" "subst" "3.65866E-5" "02330" "PRPF6_000075" "g.62616301C>T" "" "" "" "PRPF6(NM_012469.4):c.282C>T (p.Y94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896555" "1" "50" "20" "62664219" "62664219" "subst" "5.77834E-5" "00000" "PRPF6_000070" "g.62664219G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000657; GnomAD_All: 0.0000608" "{PMID:Chen 2021:33608557}" "" "PRPF6 c.[2699G>A];[2699=]; p.(Arg900His)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.64032866G>A" "" "VUS" "" "0000915435" "0" "30" "20" "62630943" "62630943" "subst" "2.44984E-5" "02330" "PRPF6_000077" "g.62630943C>T" "" "" "" "PRPF6(NM_012469.4):c.867-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000916022" "0" "70" "20" "62626344" "62626344" "subst" "0" "04436" "PRPF6_000076" "g.62626344C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.514C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916163" "0" "70" "20" "62626344" "62626344" "subst" "4.06075E-6" "04436" "PRPF6_000028" "g.62626344C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.514C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000927059" "0" "30" "20" "62664263" "62664263" "subst" "0.00064423" "02330" "PRPF6_000024" "g.62664263G>A" "" "" "" "PRPF6(NM_012469.3):c.2743G>A (p.V915M), PRPF6(NM_012469.4):c.2743G>A (p.V915M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931209" "0" "30" "20" "62641605" "62641605" "subst" "0" "02330" "PRPF6_000078" "g.62641605G>C" "" "" "" "PRPF6(NM_012469.4):c.1239G>C (p.L413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936470" "0" "50" "20" "62657386" "62657386" "subst" "0" "00006" "PRPF6_000079" "g.62657386C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_012469:c.C2003T (A668V)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000958410" "1" "50" "20" "62658506" "62658506" "subst" "2.84944E-5" "00006" "PRPF6_000080" "g.62658506C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.64027153C>G" "" "VUS" "ACMG" "0000958411" "1" "50" "20" "62658506" "62658506" "subst" "2.84944E-5" "00006" "PRPF6_000080" "g.62658506C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.64027153C>G" "" "VUS" "ACMG" "0000983933" "0" "30" "20" "62664275" "62664275" "subst" "2.03673E-5" "01804" "PRPF6_000025" "g.62664275A>G" "" "" "" "PRPF6(NM_012469.3):c.2755A>G (p.I919V), PRPF6(NM_012469.4):c.2755A>G (p.(Ile919Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005599" "0" "50" "20" "62654158" "62654158" "subst" "4.06144E-6" "01804" "PRPF6_000081" "g.62654158G>A" "" "" "" "PRPF6(NM_012469.3):c.1696G>A (p.(Ala566Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PRPF6 ## Count = 97 "{{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}}" "0000170446" "00016898" "70" "1430" "0" "1430" "0" "c.1430A>G" "r.(?)" "p.(Asn477Ser)" "" "0000253508" "00016898" "10" "120" "0" "120" "0" "c.120A>G" "r.(?)" "p.(Ala40=)" "" "0000254581" "00016898" "30" "2755" "0" "2755" "0" "c.2755A>G" "r.(?)" "p.(Ile919Val)" "" "0000294485" "00016898" "10" "1648" "-9" "1648" "-9" "c.1648-9C>G" "r.(=)" "p.(=)" "" "0000294486" "00016898" "10" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Leu665=)" "" "0000294487" "00016898" "10" "2340" "-11" "2340" "-11" "c.2340-11T>C" "r.(=)" "p.(=)" "" "0000294488" "00016898" "10" "2431" "9" "2431" "9" "c.2431+9del" "r.(=)" "p.(=)" "" "0000294489" "00016898" "10" "2546" "15" "2546" "15" "c.2546+15C>T" "r.(=)" "p.(=)" "" "0000294490" "00016898" "10" "2616" "0" "2616" "0" "c.2616G>A" "r.(?)" "p.(Ser872=)" "" "0000294491" "00016898" "10" "2674" "-10" "2674" "-10" "c.2674-10G>T" "r.(=)" "p.(=)" "" "0000294492" "00016898" "50" "2698" "0" "2698" "0" "c.2698C>T" "r.(?)" "p.(Arg900Cys)" "" "0000294493" "00016898" "30" "42" "0" "42" "0" "c.42C>T" "r.(?)" "p.(Pro14=)" "" "0000294494" "00016898" "10" "60" "0" "60" "0" "c.60G>T" "r.(?)" "p.(Gly20=)" "" "0000294495" "00016898" "10" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Val267=)" "" "0000294496" "00016898" "10" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Leu297=)" "" "0000297383" "00016898" "10" "2431" "15" "2431" "15" "c.2431+15C>T" "r.(=)" "p.(=)" "" "0000297384" "00016898" "10" "71" "6" "71" "6" "c.71+6G>A" "r.(=)" "p.(=)" "" "0000306467" "00016898" "30" "1137" "0" "1137" "0" "c.1137C>T" "r.(?)" "p.(Ala379=)" "" "0000306468" "00016898" "30" "1344" "0" "1344" "0" "c.1344T>C" "r.(?)" "p.(Asn448=)" "" "0000306469" "00016898" "30" "1449" "0" "1449" "0" "c.1449G>A" "r.(?)" "p.(Val483=)" "" "0000306470" "00016898" "50" "2017" "0" "2017" "0" "c.2017C>T" "r.(?)" "p.(Pro673Ser)" "" "0000306471" "00016898" "30" "2328" "0" "2328" "0" "c.2328C>T" "r.(?)" "p.(Asn776=)" "" "0000306472" "00016898" "50" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Val915Met)" "" "0000306473" "00016898" "50" "598" "0" "598" "0" "c.598G>C" "r.(?)" "p.(Val200Leu)" "" "0000342937" "00016898" "50" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457Trp)" "" "0000351312" "00016898" "50" "71" "7" "71" "7" "c.71+7C>T" "r.(=)" "p.(=)" "" "0000477333" "00016898" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000477334" "00016898" "50" "538" "0" "538" "0" "c.538A>C" "r.(?)" "p.(Thr180Pro)" "" "0000477335" "00016898" "50" "614" "0" "614" "0" "c.614C>G" "r.(?)" "p.(Thr205Ser)" "" "0000477336" "00016898" "50" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Tyr446Cys)" "" "0000477337" "00016898" "50" "2252" "0" "2252" "0" "c.2252G>A" "r.(?)" "p.(Arg751Gln)" "" "0000477338" "00016898" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Val831Met)" "" "0000477339" "00016898" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Ser872Leu)" "" "0000477340" "00016898" "50" "2806" "0" "2806" "0" "c.2806C>T" "r.(?)" "p.(Arg936Cys)" "" "0000570373" "00016898" "10" "241" "-19" "241" "-19" "c.241-19C>T" "r.(=)" "p.(=)" "" "0000570374" "00016898" "10" "393" "0" "393" "0" "c.393T>C" "r.(?)" "p.(Tyr131=)" "" "0000570375" "00016898" "10" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Phe186=)" "" "0000570376" "00016898" "10" "615" "16" "615" "16" "c.615+16A>T" "r.(=)" "p.(=)" "" "0000570377" "00016898" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Asp260=)" "" "0000570378" "00016898" "10" "867" "-9" "867" "-9" "c.867-9C>T" "r.(=)" "p.(=)" "" "0000570379" "00016898" "30" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "" "0000570380" "00016898" "10" "1254" "0" "1254" "0" "c.1254T>C" "r.(?)" "p.(Asp418=)" "" "0000570382" "00016898" "30" "1737" "0" "1737" "0" "c.1737C>T" "r.(?)" "p.(Arg579=)" "" "0000570383" "00016898" "30" "2431" "8" "2431" "8" "c.2431+8G>T" "r.(=)" "p.(=)" "" "0000570384" "00016898" "50" "2474" "0" "2474" "0" "c.2474A>G" "r.(?)" "p.(Gln825Arg)" "" "0000570385" "00016898" "50" "2688" "0" "2688" "0" "c.2688G>T" "r.(?)" "p.(Glu896Asp)" "" "0000618303" "00016898" "50" "1648" "-20" "1648" "-20" "c.1648-20C>T" "r.(=)" "p.(=)" "" "0000618304" "00016898" "30" "2337" "0" "2337" "0" "c.2337G>C" "r.(?)" "p.(Leu779=)" "" "0000624194" "00016898" "30" "1836" "0" "1836" "0" "c.1836C>T" "r.(?)" "p.(Leu612=)" "" "0000650829" "00016898" "50" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Val915Met)" "" "0000681696" "00016898" "50" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Arg855Trp)" "" "0000685368" "00016898" "90" "2822" "0" "2824" "0" "c.2822_2824del" "r.(?)" "p.(Phe941*)" "" "0000693024" "00016898" "50" "2407" "0" "2407" "0" "c.2407G>T" "r.(?)" "p.(Ala803Ser)" "" "0000713957" "00016898" "70" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Tyr105Cys)" "" "0000713958" "00016898" "70" "2201" "0" "2201" "0" "c.2201del" "r.(?)" "p.(Gln734Argfs*3)" "" "0000713959" "00016898" "70" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Arg855Trp)" "" "0000727861" "00016898" "30" "846" "0" "846" "0" "c.846G>A" "r.(?)" "p.(Pro282=)" "" "0000734350" "00016898" "70" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Val499Met)" "" "0000734351" "00016898" "70" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Pro181Leu)" "" "0000784428" "00016898" "50" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Ile386Val)" "" "0000787667" "00016898" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "" "0000787669" "00016898" "70" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asp184Gly)" "" "0000788144" "00016898" "70" "550" "0" "550" "0" "c.550G>C" "r.(?)" "p.(Asp184His)" "" "0000788399" "00016898" "50" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Ala166Ser)" "5" "0000790456" "00016898" "50" "2431" "9" "2431" "9" "c.2431+9del" "r.spl" "p.?" "" "0000790457" "00016898" "50" "867" "-7" "867" "-7" "c.867-7C>G" "r.spl?" "p.?" "" "0000791464" "00016898" "70" "2339" "1" "2339" "1" "c.2339+1G>A" "r.(?)" "p.(?)" "17i" "0000793757" "00016898" "70" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Tyr105Cys)" "3" "0000793758" "00016898" "70" "2201" "0" "2201" "0" "c.2201del" "r.(?)" "p.(Pro734Glnfs*19)" "16" "0000793759" "00016898" "70" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Arg855Trp)" "20" "0000809351" "00016898" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Asp260=)" "" "0000809352" "00016898" "30" "1306" "-5" "1306" "-5" "c.1306-5C>T" "r.spl?" "p.?" "" "0000809353" "00016898" "30" "2328" "0" "2328" "0" "c.2328C>T" "r.(?)" "p.(Asn776=)" "" "0000814281" "00016898" "50" "2431" "15" "2431" "36" "c.2431+15_2431+36dup" "r.(?)" "p.(?)" "18" "0000815585" "00016898" "50" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Val915Met)" "" "0000816237" "00016898" "50" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Asp184Asn)" "" "0000824382" "00016898" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "5" "0000827140" "00016898" "50" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Val434Met)" "10" "0000828863" "00016898" "50" "2699" "0" "2699" "0" "c.2699G>A" "r.(?)" "p.(Arg900His)" "" "0000866594" "00016898" "30" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Thr336=)" "" "0000866595" "00016898" "10" "2460" "0" "2460" "0" "c.2460C>T" "r.(?)" "p.(Leu820=)" "" "0000877298" "00016898" "70" "2185" "0" "2185" "0" "c.2185C>T" "r.(?)" "p.(Arg729Trp)" "" "0000877299" "00016898" "70" "2185" "0" "2185" "0" "c.2185C>T" "r.(?)" "p.(Arg729Trp)" "" "0000877300" "00016898" "70" "2699" "0" "2699" "0" "c.2699G>A" "r.(?)" "p.(Arg900His)" "" "0000895440" "00016898" "30" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Leu21=)" "" "0000895441" "00016898" "30" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(Tyr94=)" "" "0000896555" "00016898" "50" "2699" "0" "2699" "0" "c.2699G>A" "r.(?)" "p.(Arg900His)" "" "0000915435" "00016898" "30" "867" "-13" "867" "-13" "c.867-13C>T" "r.(=)" "p.(=)" "" "0000916022" "00016898" "70" "514" "0" "514" "0" "c.514C>G" "r.(?)" "p.(Arg172Gly)" "5" "0000916163" "00016898" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "5" "0000927059" "00016898" "30" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Val915Met)" "" "0000931209" "00016898" "30" "1239" "0" "1239" "0" "c.1239G>C" "r.(?)" "p.(=)" "" "0000936470" "00016898" "50" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Ala668Val)" "" "0000958410" "00016898" "50" "2200" "0" "2200" "0" "c.2200C>G" "r.(?)" "p.(Gln734Glu)" "" "0000958411" "00016898" "50" "2200" "0" "2200" "0" "c.2200C>G" "r.(?)" "p.(Gln734Glu)" "" "0000983933" "00016898" "30" "2755" "0" "2755" "0" "c.2755A>G" "r.(?)" "p.(Ile919Val)" "" "0001005599" "00016898" "50" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{variantid}}" "0000105172" "0000170446" "0000234625" "0000477333" "0000234626" "0000477334" "0000234627" "0000477335" "0000234628" "0000477336" "0000234629" "0000477337" "0000234630" "0000477338" "0000234631" "0000477339" "0000234632" "0000477340" "0000294140" "0000650829" "0000310457" "0000685368" "0000329609" "0000713957" "0000329610" "0000713958" "0000329611" "0000713959" "0000335656" "0000734350" "0000335657" "0000734351" "0000373937" "0000784428" "0000376134" "0000787667" "0000376136" "0000787669" "0000376536" "0000788144" "0000376613" "0000788399" "0000377952" "0000790456" "0000377952" "0000790457" "0000378615" "0000791464" "0000380605" "0000793757" "0000380606" "0000793758" "0000380607" "0000793759" "0000386643" "0000814281" "0000387418" "0000815585" "0000388079" "0000816237" "0000393602" "0000824382" "0000395738" "0000827140" "0000397117" "0000828863" "0000417580" "0000877298" "0000417581" "0000877299" "0000417582" "0000877300" "0000421768" "0000896555" "0000431070" "0000916022" "0000431165" "0000916163" "0000440175" "0000936470" "0000448505" "0000958410" "0000448506" "0000958411"