### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CEP78)
# 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}}"
"CEP78" "centrosomal protein 78kDa" "9" "q21.2" "unknown" "NG_053171.1" "UD_136019824044" "" "https://www.LOVD.nl/CEP78" "" "1" "25740" "84131" "617110" "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/CEP78_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-11 09:52:10" "00000" "2024-10-29 21:08:56"
## 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}}"
"00004988" "CEP78" "transcript variant 1" "001" "NM_001098802.1" "" "NP_001092272.1" "" "" "" "-276" "2474" "2169" "80850991" "80881983" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25"
"04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
"04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" ""
"05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08"
"05411" "CRDHL" "dystrophy, cone-rod, hearing loss (CRDHL)" "AR" "617236" "" "autosomal recessive" "" "00006" "2018-03-23 12:16:55" "00006" "2021-12-10 21:51:32"
"05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"CEP78" "05411"
## Individuals ## Do not remove or alter this header ##
## Count = 49
"{{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}}"
"00074439" "" "" "" "1" "" "01685" "{PMID:Nikopoulos 2016:27588451}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Greece" "" "0" "" "" "Greek" "PatN10"
"00074440" "" "" "" "2" "" "01685" "{PMID:Nikopoulos 2016:27588451}" "2-generation family, 2 affected (f, M), unaffected parents" "F;M" "no" "Sweden" "" "0" "" "" "Swedish" "FamPat2716s15/2702r34"
"00074469" "" "" "" "2" "" "01690" "{PMID:Namburi 2016:27588452}" "3-generation family, 2 affected brothers, unaffected parents" "M" "yes" "Afghanistan" "" "0" "" "" "Jewish-Oriental" "MOL0679PatIII2/1"
"00074470" "" "" "" "1" "" "01690" "{PMID:Namburi 2016:27588452}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Iran;Iraq" "" "0" "" "" "Jewish-Oriental" "Mol1310PatII1"
"00074490" "" "" "" "1" "" "01690" "{PMID:Namburi 2016:27588452}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Israel" "" "0" "" "" "Jewish-Oriental" "MOL0773PatII1"
"00105024" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "F" "?" "Spain" "" "0" "" "" "" "56ORG1"
"00155411" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Iraq;Jewish" ""
"00155412" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Oriental" ""
"00155413" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Jewish-Oriental" ""
"00269283" "" "" "" "1" "" "03476" "{PMID:Ascari 2020:31999394}" "2-generation family, 1 affected, unaffected parents" "M" "" "Belgium" "" "0" "" "" "" "Fam2PaII2"
"00269284" "" "" "" "2" "" "03476" "{PMID:Ascari 2020:31999394}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam3PatII1"
"00269285" "" "" "" "2" "" "03476" "{PMID:Ascari 2020:31999394}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents; relatives" "M" "" "Belgium" "" "0" "" "" "" "Fam1PatIII2"
"00309032" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309033" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309538" "" "" "" "1" "" "01690" "{PMID:Namburi 2016:27588452}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Iran;Iraq" "" "0" "" "" "Jewish-Oriental" "TB279PatII1"
"00309539" "" "" "" "1" "" "01690" "{PMID:Namburi 2016:27588452}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Iraq" "" "0" "" "" "" "TB365PatII1"
"00309540" "" "" "" "2" "" "00006" "{PMID:Fu 2017:27627988}" "2-generation family, 2 affected sisters, unaffected parents" "F" "yes" "China" "" "0" "" "" "" "Fam1"
"00309541" "" "" "" "2" "" "00006" "{PMID:Fu 2017:27627988}" "5-generation family, 2 affected (F, M), unaffected parents" "F;M" "yes" "China" "" "0" "" "" "" "Fam2"
"00309545" "" "" "" "1" "" "00006" "{PMID:Sanchis-Juan 2018:30526634}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3"
"00332412" "" "" "" "1" "" "03476" "" "" "F" "" "Belgium" "" "0" "" "" "" ""
"00332413" "" "" "" "1" "" "03476" "" "" "F" "" "Denmark" "" "" "" "" "" ""
"00332414" "" "" "" "1" "" "03476" "" "" "M" "yes" "Turkey" "" "" "" "" "" ""
"00332416" "" "" "00269284" "1" "" "03476" "{PMID:Ascari 2020:31999394}" "brother" "M" "" "Germany" "" "0" "" "" "" "Fam3PatII2"
"00332419" "" "" "00269285" "1" "" "00006" "{PMID:Ascari 2020:31999394}" "sister" "F" "" "Belgium" "" "0" "" "" "" "Fam1PatIII5"
"00332553" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00334024" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "543"
"00361822" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat39"
"00361825" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat40"
"00361944" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00362213" "" "" "" "1" "" "04043" "{PMID:Fadaie 2021:34795310}" "" "M" "" "Israel" "" "0" "" "" "" "Pat8"
"00389258" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 191, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "542"
"00395427" "" "" "" "1" "" "00000" "{PMID:Shen 2021:34130719}" "" "F" "yes" "China" "" "0" "" "" "" "F8‑III"
"00430989" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "F" "no" "" "" "0" "" "" "" "CEP78-18807"
"00430990" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "F" "no" "" "" "0" "" "" "" "CEP78-2"
"00430991" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "F" "yes" "" "" "0" "" "" "" "CEP78-3"
"00430992" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "F" "no" "" "" "0" "" "" "" "CEP78-4"
"00430993" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "M" "" "" "" "0" "" "" "" "CEP78-5"
"00430994" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "F" "no" "" "" "0" "" "" "" "CEP78-87042"
"00430995" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "F" "yes" "" "" "0" "" "" "" "CEP78-7"
"00436427" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "likely" "Mexico" "" "" "" "None" "Hispanic" "2694961"
"00447104" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-812"
"00447417" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHII-238"
"00447432" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "USHII-347"
"00447520" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CD-10"
"00450764" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066767"
"00450765" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "066827"
"00450766" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "079818"
"00451069" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "066837"
"00451262" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073115"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 51
"{{individualid}}" "{{diseaseid}}"
"00074439" "00058"
"00074440" "00058"
"00074469" "00198"
"00074470" "00198"
"00074490" "00058"
"00105024" "04214"
"00155411" "05411"
"00155412" "05411"
"00155413" "05411"
"00269283" "05411"
"00269284" "05411"
"00269285" "00201"
"00309032" "04214"
"00309033" "04214"
"00309538" "00198"
"00309539" "00198"
"00309540" "05415"
"00309541" "05415"
"00309545" "00198"
"00332412" "05411"
"00332413" "05411"
"00332414" "05411"
"00332416" "05411"
"00332419" "00198"
"00332553" "00198"
"00334024" "04214"
"00361822" "04250"
"00361822" "05103"
"00361825" "04250"
"00361825" "05103"
"00361944" "00198"
"00362213" "04214"
"00389258" "04214"
"00395427" "04214"
"00430989" "04214"
"00430990" "04214"
"00430991" "04214"
"00430992" "04214"
"00430993" "04214"
"00430994" "04214"
"00430995" "04214"
"00436427" "04211"
"00447104" "00198"
"00447417" "00198"
"00447432" "00198"
"00447520" "00198"
"00450764" "04249"
"00450765" "04249"
"00450766" "04249"
"00451069" "04249"
"00451262" "04249"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 00201, 04211, 04214, 04249, 04250, 05103, 05411, 05415
## Count = 42
"{{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}}"
"0000054259" "00058" "00074440" "01685" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000054267" "00058" "00074439" "01685" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000054294" "00198" "00074470" "01690" "Unknown" "" "individuals diagnosed with cone-rod degeneration (HP:?), sensorineural hearing loss (HP:0000407)" "" "" "" "" "" "" "" "" "" "" ""
"0000054296" "00198" "00074469" "01690" "Familial, autosomal recessive" "" "individual diagnosed with cone-rod degeneration (HP:?), sensorineural hearing loss (HP:0000407)" "37y" "10y" "" "" "" "" "" "" "" "" ""
"0000054297" "00058" "00074490" "01690" "Familial, autosomal recessive" "" "see paper; ..., diagnoised with CORD+SNHL (cone-rod degeneration with sensorineural hearing loss)" "" "" "" "" "" "" "" "" "" "" ""
"0000082915" "04214" "00105024" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000127911" "05411" "00155411" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CRD and SNHL" ""
"0000127912" "05411" "00155412" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CRD and SNHL" ""
"0000127913" "05411" "00155413" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CRD and SNHL" ""
"0000234352" "04214" "00309032" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy and sensorineural hearing loss" ""
"0000234353" "04214" "00309033" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy and sensorineural hearing loss" ""
"0000234858" "00198" "00309538" "01690" "Unknown" "" "individuals diagnosed with cone-rod degeneration (HP:?), sensorineural hearing loss (HP:0000407)" "" "" "" "" "" "" "" "" "" "" ""
"0000234859" "00198" "00309539" "01690" "Unknown" "" "individuals diagnosed with cone-rod degeneration (HP:?), sensorineural hearing loss (HP:0000407)" "" "" "" "" "" "" "" "" "" "" ""
"0000234860" "05415" "00309540" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000234861" "05415" "00309541" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000234864" "00198" "00309545" "00006" "Familial, autosomal recessive" "66y" "see paper; ..., cone-rod dystrophy; sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" ""
"0000250598" "05411" "00269283" "00006" "Familial, autosomal recessive" "57y" "best‐corrected visual acuity hand movements at 1m/hand movements at 1m; Goldmann visual fields oculus dexter et sinister moderately constricted peripheral limits, extensive central, absolute scotoma; fundus imaging oculus dexter et sinister limited outer retinal atrophy in macula up to area nasal to optic disc, severely reduced vascular caliber; blue light autofluorescence imaging oculus dexter et sinister diffuse hypo‐ and hyperautofluorescence; hyperautofluorescent ring around central macula, mottled hypoautofluorescence of retina nasal to optic disc; optical coherence tomography oculus dexter et sinister thinning of outer retinal layers representing RPE and PRs, which are relatively better preserved in foveal area; full‐field flash electroretinography oculus dexter et sinister severely reduced rod‐responses to one‐tenth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia" "20y" "" "" "" "" "" "" "" "CRDHL" "cone-rod dystrophy, hearing loss, reduced male fertility" ""
"0000250599" "05411" "00269284" "00006" "Familial, autosomal recessive" "29y" "best‐corrected visual acuity 0.2/0.2; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister: mildly reduced rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; acquired, severe color vision deficiency; asthenoteratozoospermia" "06y" "" "" "" "" "" "" "" "CRDHL" "" ""
"0000250600" "05411" "00332416" "00006" "Familial, autosomal recessive" "26y" "best‐corrected visual acuity 0.63/0.63; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister normal rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; normal color vision; diabetes type 1" "06y" "" "" "" "" "" "" "" "CRDHL" "" ""
"0000250603" "00201" "00269285" "00006" "Familial, autosomal recessive" "56y" "53y-best‐corrected visual acuity counting fingers at 50cm/hand movements at 1m; Goldmann visual fields oculus dexter et sinister only preserved inferior caecocentral island with object V4 of Goldmann with severely reduced sensitivity;fundus imaging oculus dexter et sinister severe reduction in vascular caliber, small white dots from the macula up to the midperiphery, relatively better preservation of fovea as well as peripheral retina, and spicular intraretinal pigmentation in nasal midperiphery; blue light autofluorescence imaging oculus dexter et sinister diffuse, mottled mixed hypo‐ and limited hyperautofluorescence more pronounced in macular area, better preserved autofluorescence in foveal area immediately surrounded by hypoautofluorescent ring; optical coherence tomography oculus dexter et sinister thinning of outer retinal layers representing RPE and PRs, which are relatively better preserved in foveal area; full‐field flash electroretinography oculus dexter et sinister severely reduced rod‐responses to one‐fourth of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia; diabetes mellitus type 2; morbid obesity; oligoasthenoteratospermia" "17y" "" "" "" "" "" "" "" "CRDHL" "" ""
"0000250604" "00198" "00332419" "00006" "Familial, autosomal recessive" "50y" "48y-best‐corrected visual acuity counting fingers at 70cm/counting fingers at 20cm ; Goldmann visual fields oculus dexter et sinister large central, absolute scotoma including blind spot, and pericentral visual field, normal peripheral limits with object V4; fundus imaging oculus dexter et sinister fundus virtually normal, except for mild reduction in vascular caliber; blue light autofluorescence imaging oculus dexter et sinister diffuse, mottled hyperautofluorescence is more pronounced in circle around central macula; optical coherence tomography oculus dexter et sinister thinning of foveal area with considerable loss of definition of outer retinal layers; full‐field flash electroretinography oculus dexter et sinister moderately reduced rod‐responses to half of normal amplitude and delayed peak time, absent cone‐specific responses; sensorineural hearing loss for high tones; photophobia, acquired achromatopsia; morbid obesity" "15y" "" "" "" "" "" "" "" "" "" ""
"0000250741" "00198" "00332553" "01807" "Unknown" "" "Cone/cone-rod dystrophy (HP:0000548); Cone dystrophy (HP:0008020)" "" "" "" "" "" "" "" "" "" "" ""
"0000252209" "04214" "00334024" "00000" "Familial, autosomal recessive" "50y" "clinical category IB1b" "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000257334" "00198" "00361944" "01807" "Unknown" "" "Hearing impairment (HP:0000365); Rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "" "" ""
"0000257627" "04214" "00362213" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Alstrom syndrome" ""
"0000282799" "04214" "00389258" "00000" "Familial, autosomal recessive" "55y" "age at genetic diagnosis mentioned" "" "54y" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000288626" "04214" "00395427" "00000" "Familial, autosomal recessive" "32y" "Central vision impairment, counting fingers at at 1 m/0.02" "43y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000321597" "04214" "00430989" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataract; retinal pigmented epithelium mottling; 1d-mild progressive sensorineural hearing loss; vestibular symptoms" "35y" "" "" "" "" "" "" "" "" "atypical Usher syndrome" ""
"0000321598" "04214" "00430990" "00006" "Familial, autosomal recessive" "31y" "see paper; ..., no cataract; atrophy; 18y-moderately progressive sensorineural hearing loss; no vestibular symptoms" "18y" "" "" "" "" "" "" "" "" "atypical Usher syndrome" ""
"0000321599" "04214" "00430991" "00006" "Familial, autosomal recessive" "40y" "see paper; ..., no cataract; no macular findings; 15y-mild sensorineural hearing loss, unclear progression; no vestibular symptoms" "10y-19y" "" "" "" "" "" "" "" "" "atypical Usher syndrome" ""
"0000321600" "04214" "00430992" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataract; atrophy, epiretinal membrane; ffERG severe cone-rod dystrophy; 1d-moderate sensorineural hearing loss, stable; no vestibular symptoms" "40y" "" "" "" "" "" "" "" "" "atypical Usher syndrome" ""
"0000321601" "04214" "00430993" "00006" "Familial, autosomal recessive" "68y" "see paper; ..., no cataract; no macular findings; ffERG severe cone-rod dystrophy; 50y-progressive sensorineural hearing loss; no vestibular symptoms" "46y" "" "" "" "" "" "" "" "" "atypical Usher syndrome" ""
"0000321602" "04214" "00430994" "00006" "Familial, autosomal recessive" "" "see paper; ..., no cataract; retinal pigmented epithelium granularity; ffERG severe rod dysfunctio, moderate cone dysfunction ; 12y-severe sensorineural hearing loss, stable; no vestibular symptoms" "18y" "" "" "" "" "" "" "" "" "atypical Usher syndrome" ""
"0000321603" "04214" "00430995" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., no cataract; no macular findings; ffERG severe cone dysfunction; no sensorineural hearing loss; no vestibular symptoms" "11y" "" "" "" "" "" "" "" "" "atypical Usher syndrome" ""
"0000326606" "04211" "00436427" "04552" "Familial, autosomal recessive" "35y, 44y" "Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510" "35y" "44y" "35y" "" "" "" "" "" "" "35y" ""
"0000336303" "00198" "00447104" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336616" "00198" "00447417" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000336631" "00198" "00447432" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000336719" "00198" "00447520" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000339819" "04249" "00450764" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339820" "04249" "00450765" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339821" "04249" "00450766" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 49
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000074601" "00074439" "1" "01685" "01685" "2016-07-01 11:13:43" "00006" "2020-08-28 17:18:50" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" ""
"0000074602" "00074440" "1" "01685" "01685" "2016-07-01 11:43:58" "00006" "2020-08-28 17:18:22" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" ""
"0000074632" "00074469" "1" "01690" "01690" "2016-07-03 14:56:24" "00006" "2020-08-28 17:27:29" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" ""
"0000074633" "00074470" "1" "01690" "01690" "2016-07-03 16:12:14" "01690" "2016-07-04 09:26:06" "SEQ" "DNA" "" ""
"0000074654" "00074490" "1" "01690" "01690" "2016-07-05 09:11:37" "" "" "SEQ" "DNA" "" ""
"0000105497" "00105024" "1" "01244" "01244" "2017-06-15 15:04:55" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000156276" "00155411" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156277" "00155412" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156278" "00155413" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000270415" "00269283" "1" "03476" "03476" "2019-11-07 18:55:53" "" "" "SEQ-NG" "DNA" "" ""
"0000270416" "00269284" "1" "03476" "03476" "2019-11-07 19:16:30" "00006" "2021-02-19 09:34:11" "RT-PCR;SEQ-NG" "DNA;RNA" "" ""
"0000270417" "00269285" "1" "03476" "03476" "2019-11-07 19:27:46" "" "" "SEQ-NG" "DNA" "" ""
"0000310177" "00309032" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310178" "00309033" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310683" "00309538" "1" "01690" "01690" "2016-07-03 16:12:14" "01690" "2016-07-04 09:26:06" "SEQ" "DNA" "" ""
"0000310684" "00309539" "1" "01690" "01690" "2016-07-03 16:12:14" "01690" "2016-07-04 09:26:06" "SEQ" "DNA" "" ""
"0000310685" "00309540" "1" "00006" "00006" "2020-08-28 17:51:25" "00006" "2020-08-28 17:57:54" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000310686" "00309541" "1" "00006" "00006" "2020-08-28 17:51:25" "00006" "2020-08-28 17:57:30" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000310689" "00309545" "1" "00006" "00006" "2020-08-28 19:40:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000333636" "00332412" "1" "03476" "03476" "2021-02-18 18:00:37" "" "" "SEQ-ON" "DNA" "" ""
"0000333637" "00332413" "1" "03476" "03476" "2021-02-18 18:21:48" "" "" "SEQ-ON;SEQ-NG" "DNA" "" ""
"0000333638" "00332414" "1" "03476" "03476" "2021-02-18 18:47:29" "" "" "SEQ-NG" "DNA" "" ""
"0000333640" "00332416" "1" "03476" "03476" "2021-02-19 09:06:04" "" "" "SEQ-NG" "DNA" "" ""
"0000333643" "00332419" "1" "00006" "00006" "2021-02-19 09:30:09" "" "" "SEQ" "DNA" "" ""
"0000333777" "00332553" "1" "01807" "01807" "2021-02-22 10:19:01" "" "" "SEQ" "DNA" "" ""
"0000335250" "00334024" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000363051" "00361822" "1" "02404" "02404" "2021-04-11 12:39:39" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing"
"0000363053" "00361825" "1" "02404" "02404" "2021-04-11 12:46:20" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing"
"0000363171" "00361944" "1" "01807" "01807" "2021-04-13 09:44:01" "" "" "SEQ" "DNA" "" ""
"0000363442" "00362213" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000390501" "00389258" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000396665" "00395427" "1" "00000" "03840" "2021-12-06 14:47:57" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000432399" "00430989" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" ""
"0000432400" "00430990" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" ""
"0000432401" "00430991" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" ""
"0000432402" "00430992" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" ""
"0000432403" "00430993" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" ""
"0000432404" "00430994" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" ""
"0000432405" "00430995" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" ""
"0000437911" "00436427" "1" "04552" "04552" "2023-09-15 18:39:20" "" "" "SEQ-NG-I" "DNA" "Buccal swab" ""
"0000448681" "00447104" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448994" "00447417" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449009" "00447432" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449097" "00447520" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000452362" "00450764" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452363" "00450765" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452364" "00450766" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452668" "00451069" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452861" "00451262" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 22
"{{screeningid}}" "{{geneid}}"
"0000074632" "CEP78"
"0000074633" "CEP78"
"0000074654" "CEP78"
"0000156276" "CEP78"
"0000156277" "CEP78"
"0000156278" "CEP78"
"0000310177" "CEP78"
"0000310178" "CEP78"
"0000310683" "CEP78"
"0000310684" "CEP78"
"0000310685" "CEP78"
"0000310686" "CEP78"
"0000310689" "CEP78"
"0000333636" "CEP78"
"0000333637" "CEP78"
"0000333638" "CEP78"
"0000333643" "CEP78"
"0000335250" "CEP78"
"0000363442" "CEP78"
"0000390501" "CEP78"
"0000396665" "CEP78"
"0000437911" "CEP78"
## 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 = 101
"{{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}}"
"0000119260" "3" "90" "9" "80855281" "80855281" "subst" "0" "01685" "CEP78_000001" "g.80855281G>T" "" "{PMID:Nikopoulos 2016:27588451}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78240365G>T" "" "pathogenic (recessive)" ""
"0000119261" "1" "90" "9" "80855285" "80855285" "subst" "0" "01685" "CEP78_000002" "g.80855285G>A" "" "{PMID:Nikopoulos 2016:27588451}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78240369G>A" "" "pathogenic (recessive)" ""
"0000119262" "2" "90" "9" "80858407" "80858407" "del" "0" "01685" "CEP78_000003" "g.80858407del" "" "{PMID:Nikopoulos 2016:27588451}" "" "633delC" "" "Germline" "yes" "" "0" "" "" "g.78243491del" "" "pathogenic (recessive)" ""
"0000119346" "3" "90" "9" "80863206" "80863206" "subst" "0" "01690" "CEP78_000005" "g.80863206G>A" "" "{PMID:Namburi 2016:27588452}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78248290G>A" "" "pathogenic (recessive)" ""
"0000119347" "3" "70" "9" "80856646" "80856646" "del" "0" "01690" "CEP78_000004" "g.80856646del" "" "{PMID:Namburi 2016:27588452}" "" "534delT" "" "Germline" "?" "" "0" "" "" "g.78241730del" "" "likely pathogenic (recessive)" ""
"0000119575" "3" "70" "9" "80863206" "80863206" "subst" "0" "01690" "CEP78_000005" "g.80863206G>A" "" "{PMID:Namburi 2016:27588452}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78248290G>A" "" "likely pathogenic (recessive)" ""
"0000170932" "3" "90" "9" "80863776" "80863776" "del" "0" "01244" "CEP78_000006" "g.80863776del" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78248860del" "" "VUS" "ACMG"
"0000273255" "0" "90" "9" "80881357" "80881357" "subst" "0.00188324" "01943" "CEP78_000008" "g.80881357G>C" "" "" "" "CEP78(NM_001098802.3):c.1849-1G>C, CEP78(NM_001349839.1):c.1849-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78266441G>C" "" "pathogenic" ""
"0000358198" "3" "90" "9" "80856646" "80856646" "del" "0" "01243" "CEP78_000009" "g.80856646del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.78241730del" "" "pathogenic" ""
"0000358199" "0" "90" "9" "80856646" "80856646" "del" "0" "01243" "CEP78_000009" "g.80856646del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.78241730del" "" "pathogenic" ""
"0000358200" "3" "90" "9" "80863206" "80863206" "subst" "0" "01243" "CEP78_000005" "g.80863206G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.78248290G>A" "" "pathogenic" ""
"0000358417" "0" "90" "9" "80863206" "80863206" "subst" "0" "01243" "CEP78_000005" "g.80863206G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.78248290G>A" "" "pathogenic" ""
"0000538568" "0" "10" "9" "80851301" "80851301" "subst" "0.000877298" "01943" "CEP78_000010" "g.80851301C>T" "" "" "" "CEP78(NM_001330691.2):c.35C>T (p.A12V), CEP78(NM_001349839.2):c.35C>T (p.A12V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78236385C>T" "" "benign" ""
"0000538569" "0" "90" "9" "80851327" "80851327" "del" "0" "01943" "CEP78_000011" "g.80851327del" "" "" "" "CEP78(NM_001330691.2):c.61delT (p.Y21Tfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78236411del" "" "pathogenic" ""
"0000538570" "0" "30" "9" "80855096" "80855096" "subst" "0.000644832" "01943" "CEP78_000012" "g.80855096A>G" "" "" "" "CEP78(NM_001330691.2):c.411A>G (p.L137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78240180A>G" "" "likely benign" ""
"0000538571" "0" "50" "9" "80855221" "80855221" "subst" "0" "02330" "CEP78_000013" "g.80855221C>T" "" "" "" "CEP78(NM_001098802.3):c.440C>T (p.S147L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78240305C>T" "" "VUS" ""
"0000538572" "0" "90" "9" "80855281" "80855281" "subst" "0" "02327" "CEP78_000001" "g.80855281G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78240365G>T" "" "pathogenic" ""
"0000538573" "0" "30" "9" "80861604" "80861604" "subst" "0.00155352" "02330" "CEP78_000014" "g.80861604C>T" "" "" "" "CEP78(NM_001098802.3):c.798C>T (p.C266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78246688C>T" "" "likely benign" ""
"0000538574" "0" "10" "9" "80863269" "80863269" "subst" "0.00215872" "01943" "CEP78_000015" "g.80863269G>C" "" "" "" "CEP78(NM_001330691.2):c.955G>C (p.E319Q), CEP78(NM_001349839.2):c.955G>C (p.E319Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78248353G>C" "" "benign" ""
"0000538575" "0" "50" "9" "80863276" "80863276" "subst" "5.30677E-5" "01943" "CEP78_000016" "g.80863276A>G" "" "" "" "CEP78(NM_001330691.2):c.957+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78248360A>G" "" "VUS" ""
"0000538576" "0" "50" "9" "80863708" "80863708" "subst" "1.75779E-5" "02330" "CEP78_000017" "g.80863708G>A" "" "" "" "CEP78(NM_001098802.3):c.988G>A (p.E330K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78248792G>A" "" "VUS" ""
"0000538577" "0" "30" "9" "80866891" "80866891" "subst" "0" "01943" "CEP78_000018" "g.80866891C>G" "" "" "" "CEP78(NM_001330691.2):c.1137C>G (p.P379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78251975C>G" "" "likely benign" ""
"0000538578" "0" "30" "9" "80866948" "80866948" "subst" "0.000820896" "02330" "CEP78_000019" "g.80866948A>G" "" "" "" "CEP78(NM_001098802.3):c.1197A>G (p.A399=), CEP78(NM_001349839.1):c.1197A>G (p.A399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78252032A>G" "" "likely benign" ""
"0000538579" "0" "30" "9" "80869862" "80869862" "subst" "1.63563E-5" "01943" "CEP78_000020" "g.80869862A>G" "" "" "" "CEP78(NM_001330691.2):c.1362A>G (p.I454M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78254946A>G" "" "likely benign" ""
"0000538580" "0" "10" "9" "80879173" "80879173" "subst" "0.00329495" "02330" "CEP78_000021" "g.80879173C>T" "" "" "" "CEP78(NM_001098802.3):c.1569C>T (p.G523=), CEP78(NM_001330691.2):c.1566C>T (p.G522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78264257C>T" "" "benign" ""
"0000538581" "0" "30" "9" "80879173" "80879173" "subst" "0.00329495" "01943" "CEP78_000021" "g.80879173C>T" "" "" "" "CEP78(NM_001098802.3):c.1569C>T (p.G523=), CEP78(NM_001330691.2):c.1566C>T (p.G522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78264257C>T" "" "likely benign" ""
"0000538582" "0" "50" "9" "80881357" "80881357" "subst" "0.00188324" "02330" "CEP78_000008" "g.80881357G>C" "" "" "" "CEP78(NM_001098802.3):c.1849-1G>C, CEP78(NM_001349839.1):c.1849-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78266441G>C" "" "VUS" ""
"0000538583" "0" "50" "9" "80881357" "80881357" "subst" "0.00188324" "02327" "CEP78_000008" "g.80881357G>C" "" "" "" "CEP78(NM_001098802.3):c.1849-1G>C, CEP78(NM_001349839.1):c.1849-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78266441G>C" "" "VUS" ""
"0000538584" "0" "30" "9" "80881659" "80881659" "subst" "0.000331827" "01943" "CEP78_000022" "g.80881659G>A" "" "" "" "CEP78(NM_001098802.2):c.2150G>A (p.G717E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78266743G>A" "" "likely benign" ""
"0000603156" "3" "90" "9" "80855230" "80855230" "subst" "4.96713E-5" "03476" "CEP78_000023" "g.80855230T>C" "" "{PMID:Ascari 2020:31999394}" "" "" "" "Germline" "yes" "rs761661253" "0" "" "" "g.78240314T>C" "" "pathogenic (recessive)" ""
"0000603157" "21" "70" "9" "80879065" "80879065" "subst" "0" "03476" "CEP78_000024" "g.80879065G>T" "" "{PMID:Ascari 2020:31999394}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78264149G>T" "" "likely pathogenic (recessive)" ""
"0000603158" "11" "90" "9" "80855230" "80855230" "subst" "4.96713E-5" "03476" "CEP78_000023" "g.80855230T>C" "" "{PMID:Ascari 2020:31999394}" "" "" "" "Germline" "yes" "rs761661253" "0" "" "" "g.78240314T>C" "" "pathogenic (recessive)" ""
"0000612177" "0" "30" "9" "80863212" "80863212" "subst" "0.00179179" "01943" "CEP78_000025" "g.80863212T>C" "" "" "" "CEP78(NM_001330691.2):c.898T>C (p.S300P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78248296T>C" "" "likely benign" ""
"0000622297" "0" "30" "9" "80866948" "80866948" "subst" "0.000820896" "01943" "CEP78_000019" "g.80866948A>G" "" "" "" "CEP78(NM_001098802.3):c.1197A>G (p.A399=), CEP78(NM_001349839.1):c.1197A>G (p.A399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78252032A>G" "" "likely benign" ""
"0000678719" "0" "50" "9" "80869773" "80869773" "subst" "0.000228275" "01943" "CEP78_000026" "g.80869773G>C" "" "" "" "CEP78(NM_001349839.1):c.1276G>C (p.V426L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000678720" "0" "30" "9" "80881589" "80881589" "subst" "0.000661212" "01943" "CEP78_000027" "g.80881589A>C" "" "" "" "CEP78(NM_001349839.1):c.2080A>C (p.R694=), CEP78(NM_001349839.2):c.2080A>C (p.R694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000685088" "0" "90" "9" "80856646" "80856646" "del" "0" "00004" "CEP78_000004" "g.80856646del" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685089" "0" "90" "9" "80863206" "80863206" "subst" "0" "00004" "CEP78_000005" "g.80863206G>A" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685622" "3" "70" "9" "80856646" "80856646" "del" "0" "01690" "CEP78_000004" "g.80856646del" "" "{PMID:Namburi 2016:27588452}" "" "534delT" "" "Germline" "?" "" "0" "" "" "g.78241730del" "" "likely pathogenic (recessive)" ""
"0000685623" "21" "70" "9" "80856646" "80856646" "del" "0" "01690" "CEP78_000004" "g.80856646del" "" "{PMID:Namburi 2016:27588452}" "" "534delT" "" "Germline" "?" "" "0" "" "" "g.78241730del" "" "likely pathogenic (recessive)" ""
"0000685625" "11" "70" "9" "80863206" "80863206" "subst" "0" "01690" "CEP78_000005" "g.80863206G>A" "" "{PMID:Namburi 2016:27588452}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000685626" "3" "90" "9" "232079571" "232079571" "subst" "0" "00006" "CEP78_000028" "g.232079571G>A" "" "{PMID:Fu 2017:27627988}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000685627" "3" "90" "9" "80880286" "80880286" "subst" "0" "00006" "CEP78_000029" "g.80880286A>G" "" "{PMID:Fu 2017:27627988}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000685630" "3" "90" "9" "80843699" "80849462" "" "0" "00006" "CEP78_000030" "g.[80843699_80849462del;80849463_80849760inv;80849761_80859678del]" "" "{PMID:Sanchis-Juan 2018:30526634}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000690593" "0" "50" "9" "80851382" "80851382" "subst" "4.38939E-6" "01943" "CEP78_000031" "g.80851382G>C" "" "" "" "CEP78(NM_001349839.1):c.116G>C (p.R39P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000690594" "0" "50" "9" "80861657" "80861657" "subst" "8.24443E-5" "01943" "CEP78_000032" "g.80861657C>G" "" "" "" "CEP78(NM_001349839.1):c.851C>G (p.T284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000731352" "21" "70" "9" "80877888" "80877888" "dup" "0" "03476" "CEP78_000033" "g.80877888dup" "" "" "" "g.78262972dup, c.1449dup, p.(Arg484Thrfs*4)" "c.1449dup detected via WES-NGS and combined with exon 1-5 deletion of paternal origin (PMID:30526634) confirmed with Oxford Nanopore" "Germline" "" "" "0" "" "" "g.78262972dup" "" "likely pathogenic (recessive)" ""
"0000731353" "11" "90" "9" "80868146" "80868146" "subst" "1.12025E-5" "03476" "CEP78_000034" "g.80868146A>C" "" "" "" "hg38:g.78253230A>C" "" "Germline" "" "rs778035330" "0" "" "" "g.78253230A>C" "836906" "likely pathogenic (recessive)" ""
"0000731354" "20" "90" "9" "80711846" "80946803" "del" "0" "03476" "CEP78_000035" "g.80711846_80946803del" "" "" "" "chr9: 78096930-78331887del" "delineation was obtained via whole genome\r\nLRS, coordinates are crossing chr9: 78096930-78331887 and cover 235 kb." "Germline" "" "" "0" "" "" "g.78096930_78331887" "" "pathogenic (recessive)" ""
"0000731355" "3" "70" "9" "80866961" "80866961" "subst" "0" "03476" "CEP78_000036" "g.80866961T>A" "" "" "" "hg38:g.78252045T>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.78252045T>A" "" "pathogenic (recessive)" ""
"0000731356" "11" "90" "9" "80843699" "80849462" "" "0" "03476" "CEP78_000030" "g.[80843699_80849462del;80849463_80849760inv;80849761_80859678del]" "" "" "" "del ex1-5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000731358" "21" "70" "9" "80879065" "80879065" "subst" "0" "03476" "CEP78_000024" "g.80879065G>T" "" "{PMID:Ascari 2020:31999394}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78264149G>T" "" "likely pathogenic (recessive)" ""
"0000731359" "11" "90" "9" "80855230" "80855230" "subst" "4.96713E-5" "03476" "CEP78_000023" "g.80855230T>C" "" "{PMID:Ascari 2020:31999394}" "" "" "" "Germline" "yes" "rs761661253" "0" "" "" "g.78240314T>C" "" "pathogenic (recessive)" ""
"0000731361" "3" "90" "9" "80855230" "80855230" "subst" "4.96713E-5" "00006" "CEP78_000023" "g.80855230T>C" "" "{PMID:Ascari 2020:31999394}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000731363" "3" "90" "9" "80855230" "80855230" "subst" "4.96713E-5" "00006" "CEP78_000023" "g.80855230T>C" "" "{PMID:Ascari 2020:31999394}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000731584" "3" "70" "9" "80861633" "80861633" "del" "0" "01807" "CEP78_000037" "g.80861633del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.78246717del" "" "likely pathogenic" ""
"0000733259" "3" "70" "9" "80855221" "80855221" "subst" "0" "00000" "CEP78_000013" "g.80855221C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.78240305C>T" "" "likely pathogenic" ""
"0000763464" "3" "50" "9" "80856627" "80856627" "subst" "0" "02404" "CEP78_000038" "g.80856627T>G" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG"
"0000763466" "1" "50" "9" "80856627" "80856627" "subst" "0" "02404" "CEP78_000038" "g.80856627T>G" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG"
"0000763467" "2" "90" "9" "80856646" "80856646" "del" "0" "02404" "CEP78_000004" "g.80856646del" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78241730del" "" "pathogenic (recessive)" "ACMG"
"0000763622" "0" "70" "9" "80855230" "80855230" "subst" "4.96713E-5" "01807" "CEP78_000023" "g.80855230T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000763623" "0" "70" "9" "80863686" "80863686" "subst" "0" "01807" "CEP78_000039" "g.80863686G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764097" "3" "90" "9" "80863753" "80863753" "subst" "0" "04043" "CEP78_000040" "g.80863753G>T" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78248837G>T" "" "pathogenic (recessive)" ""
"0000804203" "0" "30" "9" "80851301" "80851301" "subst" "0.000877298" "02330" "CEP78_000010" "g.80851301C>T" "" "" "" "CEP78(NM_001330691.2):c.35C>T (p.A12V), CEP78(NM_001349839.2):c.35C>T (p.A12V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000819846" "1" "70" "9" "80877842" "80877844" "delins" "0" "00000" "CEP78_000041" "g.80877842_80877844delinsCTTT" "" "{PMID:Weisschuh 2020:32531858}" "" "CEP78, variant 1: c.1403_1405delinsCTTT/ p.L468Pfs*13 , variant 2: c.1427del/p.V476Gfs*2" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.78262926_78262928delinsCTTT" "" "likely pathogenic" ""
"0000820734" "1" "70" "9" "80877866" "80877866" "del" "0" "00000" "CEP78_000042" "g.80877866del" "" "{PMID:Weisschuh 2020:32531858}" "" "CEP78, variant 1: c.1403_1405delinsCTTT/ p.L468Pfs*13 , variant 2: c.1427del/p.V476Gfs*2" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.78262950del" "" "likely pathogenic" ""
"0000828316" "3" "70" "9" "80861636" "80861636" "subst" "3.28087E-5" "00000" "CEP78_000043" "g.80861636T>C" "" "{PMID:Shen 2021:34130719}" "" "CEP78 c.830T>C, p.L277P" "homozygous" "Germline" "yes" "" "0" "" "" "g.78246720T>C" "" "likely pathogenic" ""
"0000852321" "0" "50" "9" "80866925" "80866925" "subst" "0" "01943" "CEP78_000045" "g.80866925C>A" "" "" "" "CEP78(NM_001349839.1):c.1174C>A (p.P392T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861744" "0" "30" "9" "80855126" "80855126" "subst" "0" "02330" "CEP78_000044" "g.80855126A>G" "" "" "" "CEP78(NM_001349839.2):c.426+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000888901" "0" "70" "9" "80856692" "80856696" "del" "0" "02330" "CEP78_000046" "g.80856692_80856696del" "" "" "" "CEP78(NM_001349839.2):c.580_584delGATCA (p.D194Hfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000888902" "0" "10" "9" "80863269" "80863269" "subst" "0.00215872" "02330" "CEP78_000015" "g.80863269G>C" "" "" "" "CEP78(NM_001330691.2):c.955G>C (p.E319Q), CEP78(NM_001349839.2):c.955G>C (p.E319Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000913182" "0" "30" "9" "80855189" "80855189" "subst" "0.000623127" "02330" "CEP78_000047" "g.80855189C>T" "" "" "" "CEP78(NM_001349839.2):c.427-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913183" "0" "90" "9" "80877888" "80877888" "dup" "0" "02330" "CEP78_000033" "g.80877888dup" "" "" "" "CEP78(NM_001349839.2):c.1449dupA (p.R484Tfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000917866" "1" "90" "9" "80850991" "80881983" "del" "0" "00006" "CEP78_000035" "g.(?_80850991)_(80881983_?)del" "" "{PMID:Igelman 2021:34223797}" "" "del whole gene" "" "Germline" "" "" "0" "" "" "g.(?_78236075)_(78267067_?)del" "" "pathogenic (recessive)" ""
"0000917867" "1" "90" "9" "80854938" "80854938" "subst" "0" "00006" "CEP78_000050" "g.80854938G>T" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.78240022G>T" "" "pathogenic (recessive)" ""
"0000917868" "3" "90" "9" "80880281" "80880281" "subst" "1.43885E-5" "00006" "CEP78_000054" "g.80880281C>A" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.78265365C>A" "" "pathogenic (recessive)" ""
"0000917869" "1" "90" "9" "80858409" "80858409" "subst" "0" "00006" "CEP78_000052" "g.80858409G>A" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.78243493G>A" "" "pathogenic (recessive)" ""
"0000917870" "3" "90" "9" "80850991" "80881983" "inv" "0" "00006" "CEP78_000048" "g.(?_80850991)_(80881983_?)inv" "" "{PMID:Igelman 2021:34223797}" "" "inversion der(9)(q21.2)" "" "Germline" "" "" "0" "" "" "g.(?_78236075)_(78267067_?)inv" "" "pathogenic (recessive)" ""
"0000917871" "3" "90" "9" "80855221" "80855221" "subst" "0" "00006" "CEP78_000013" "g.80855221C>T" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.78240305C>T" "" "pathogenic (recessive)" ""
"0000917872" "3" "90" "9" "80866926" "80866926" "subst" "0" "00006" "CEP78_000053" "g.80866926C>T" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.78252010C>T" "" "pathogenic (recessive)" ""
"0000917885" "2" "90" "9" "80851477" "80851477" "del" "0" "00006" "CEP78_000049" "g.80851477del" "" "{PMID:Igelman 2021:34223797}" "" "c.211delG" "" "Germline" "" "" "0" "" "" "g.78236561del" "" "pathogenic (recessive)" ""
"0000917886" "2" "90" "9" "80855008" "80855008" "subst" "0" "00006" "CEP78_000051" "g.80855008T>G" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.78240092T>G" "" "pathogenic (recessive)" ""
"0000917887" "2" "90" "9" "80850991" "80881983" "del" "0" "00006" "CEP78_000035" "g.(?_80850991)_(80881983_?)del" "" "{PMID:Igelman 2021:34223797}" "" "del whole gene" "" "Germline" "" "" "0" "" "" "g.(?_78236075)_(78267067_?)del" "" "pathogenic (recessive)" ""
"0000933366" "3" "90" "9" "80855254" "80855254" "subst" "2.85619E-5" "04552" "CEP78_000055" "g.80855254G>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "NM_001330691.3:c.473G>T" "" "VUS" "ACMG"
"0000949310" "0" "30" "9" "80880282" "80880282" "dup" "0" "02330" "CEP78_000056" "g.80880282dup" "" "" "" "CEP78(NM_001349839.2):c.1629-6dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949311" "0" "30" "9" "80881589" "80881589" "subst" "0.000661212" "02330" "CEP78_000027" "g.80881589A>C" "" "" "" "CEP78(NM_001349839.1):c.2080A>C (p.R694=), CEP78(NM_001349839.2):c.2080A>C (p.R694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949312" "0" "30" "9" "80885780" "80885780" "subst" "0.00047619" "02330" "CEP78_000057" "g.80885780A>T" "" "" "" "CEP78(NM_001349839.2):c.*13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000958167" "3" "90" "9" "80877866" "80877866" "del" "0" "00006" "CEP78_000042" "g.80877866del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.78262950del" "813161" "pathogenic (recessive)" "ACMG"
"0000958761" "3" "90" "9" "80861633" "80861633" "del" "0" "00006" "CEP78_000037" "g.80861633del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.78246717del" "" "pathogenic (recessive)" "ACMG"
"0000958776" "0" "70" "9" "80855230" "80855230" "subst" "4.96713E-5" "00006" "CEP78_000023" "g.80855230T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.78240314T>C" "1171014" "likely pathogenic (recessive)" "ACMG"
"0000958864" "3" "50" "9" "80856627" "80856627" "subst" "0" "00006" "CEP78_000038" "g.80856627T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.78241711T>G" "" "VUS" "ACMG"
"0000959227" "0" "90" "9" "80863686" "80863686" "subst" "0" "00006" "CEP78_000039" "g.80863686G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.78248770G>A" "1184922" "pathogenic (recessive)" "ACMG"
"0000965512" "0" "30" "9" "80880442" "80880442" "subst" "0.00298823" "02330" "CEP78_000058" "g.80880442C>A" "" "" "" "CEP78(NM_001349839.2):c.1783C>A (p.Q595K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000978775" "0" "30" "9" "80866822" "80866822" "subst" "1.23576E-5" "01804" "CEP78_000059" "g.80866822A>G" "" "" "" "CEP78(NM_001330691.3):c.1070-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000986345" "3" "70" "9" "80855230" "80855230" "subst" "4.96713E-5" "04405" "CEP78_000023" "g.80855230T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.78240314T>C" "" "likely pathogenic" "ACMG"
"0000986346" "3" "70" "9" "80855230" "80855230" "subst" "4.96713E-5" "04405" "CEP78_000023" "g.80855230T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.78240314T>C" "" "likely pathogenic" "ACMG"
"0000986347" "3" "90" "9" "80856646" "80856646" "del" "0" "04405" "CEP78_000004" "g.80856646del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.78241730del" "" "pathogenic" "ACMG"
"0000987206" "0" "70" "9" "80855004" "80855004" "subst" "9.11311E-6" "00006" "CEP78_000060" "g.80855004C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.78240088C>T" "" "likely pathogenic" "ACMG"
"0000987306" "0" "70" "9" "80855230" "80855230" "subst" "4.96713E-5" "00006" "CEP78_000023" "g.80855230T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.78240314T>C" "" "likely pathogenic" "ACMG"
"0001014565" "0" "30" "9" "80851539" "80851539" "subst" "0.000704949" "02330" "CEP78_000061" "g.80851539A>G" "" "" "" "CEP78(NM_001349839.2):c.253+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001014566" "0" "30" "9" "80880476" "80880476" "subst" "0.000600456" "02330" "CEP78_000062" "g.80880476G>T" "" "" "" "CEP78(NM_001349839.2):c.1800+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CEP78
## Count = 101
"{{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}}"
"0000119260" "00004988" "70" "499" "1" "499" "1" "c.499+1G>T" "r.427_499del" "p.Gly143Leufs*6" "3i"
"0000119261" "00004988" "90" "499" "5" "499" "5" "c.499+5G>A" "r.427_499del" "p.Gly143Leufs*6" "3i"
"0000119262" "00004988" "90" "633" "0" "633" "0" "c.633del" "r.633del" "p.Trp212Glyfs*18" "5"
"0000119346" "00004988" "70" "893" "-1" "893" "-1" "c.893-1G>A" "r.893_957del" "p.Asp298Valfs*17" "6i"
"0000119347" "00004988" "70" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Lys179Argfs*10)" "4"
"0000119575" "00004988" "70" "893" "-1" "893" "-1" "c.893-1G>A" "r.893_957del" "p.Asp298Valfs*17" "6i"
"0000170932" "00004988" "90" "1056" "0" "1056" "0" "c.1056del" "r.(?)" "p.(Thr353Leufs*5)" "8"
"0000273255" "00004988" "90" "1849" "-1" "1849" "-1" "c.1849-1G>C" "r.spl?" "p.?" ""
"0000358198" "00004988" "90" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Lys179Argfs*10)" "4"
"0000358199" "00004988" "90" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Lys179Argfs*10)" "4"
"0000358200" "00004988" "90" "893" "-1" "893" "-1" "c.893-1G>A" "r.spl" "p.?" "5i"
"0000358417" "00004988" "90" "893" "-1" "893" "-1" "c.893-1G>A" "r.spl" "p.?" "5i"
"0000538568" "00004988" "10" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Ala12Val)" ""
"0000538569" "00004988" "90" "61" "0" "61" "0" "c.61del" "r.(?)" "p.(Tyr21ThrfsTer39)" ""
"0000538570" "00004988" "30" "411" "0" "411" "0" "c.411A>G" "r.(?)" "p.(Leu137=)" ""
"0000538571" "00004988" "50" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Ser147Leu)" ""
"0000538572" "00004988" "90" "499" "1" "499" "1" "c.499+1G>T" "r.spl?" "p.?" ""
"0000538573" "00004988" "30" "798" "0" "798" "0" "c.798C>T" "r.(?)" "p.(Cys266=)" ""
"0000538574" "00004988" "10" "955" "0" "955" "0" "c.955G>C" "r.(?)" "p.(Glu319Gln)" ""
"0000538575" "00004988" "50" "957" "5" "957" "5" "c.957+5A>G" "r.spl?" "p.?" ""
"0000538576" "00004988" "50" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Glu330Lys)" ""
"0000538577" "00004988" "30" "1140" "0" "1140" "0" "c.1140C>G" "r.(?)" "p.(Pro380=)" ""
"0000538578" "00004988" "30" "1197" "0" "1197" "0" "c.1197A>G" "r.(?)" "p.(Ala399=)" ""
"0000538579" "00004988" "30" "1365" "0" "1365" "0" "c.1365A>G" "r.(?)" "p.(Ile455Met)" ""
"0000538580" "00004988" "10" "1569" "0" "1569" "0" "c.1569C>T" "r.(?)" "p.(Gly523=)" ""
"0000538581" "00004988" "30" "1569" "0" "1569" "0" "c.1569C>T" "r.(?)" "p.(Gly523=)" ""
"0000538582" "00004988" "50" "1849" "-1" "1849" "-1" "c.1849-1G>C" "r.spl?" "p.?" ""
"0000538583" "00004988" "50" "1849" "-1" "1849" "-1" "c.1849-1G>C" "r.spl?" "p.?" ""
"0000538584" "00004988" "30" "2150" "0" "2150" "0" "c.2150G>A" "r.(?)" "p.(Gly717Glu)" ""
"0000603156" "00004988" "90" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" ""
"0000603157" "00004988" "70" "1462" "-1" "1462" "-1" "c.1462-1G>T" "r.1462_1628del" "p.Leu488fs" ""
"0000603158" "00004988" "90" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" ""
"0000612177" "00004988" "30" "898" "0" "898" "0" "c.898T>C" "r.(?)" "p.(Ser300Pro)" ""
"0000622297" "00004988" "30" "1197" "0" "1197" "0" "c.1197A>G" "r.(?)" "p.(Ala399=)" ""
"0000678719" "00004988" "50" "1276" "0" "1276" "0" "c.1276G>C" "r.(?)" "p.(Val426Leu)" ""
"0000678720" "00004988" "30" "2080" "0" "2080" "0" "c.2080A>C" "r.(?)" "p.(Arg694=)" ""
"0000685088" "00004988" "90" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Lys179Argfs*10)" ""
"0000685089" "00004988" "90" "893" "-1" "893" "-1" "c.893-1G>A" "r.spl" "p.?" ""
"0000685622" "00004988" "70" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Lys179Argfs*10)" "4"
"0000685623" "00004988" "70" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Lys179Argfs*10)" "4"
"0000685625" "00004988" "70" "893" "-1" "893" "-1" "c.893-1G>A" "r.(893_957del)" "p.(Asp298Valfs*17)" ""
"0000685626" "00004988" "90" "1254" "5" "1254" "5" "c.1254+5G>A" "r.1209_1254del" "p.Arg403Serfs*7" ""
"0000685627" "00004988" "90" "1629" "-2" "1629" "-2" "c.1629-2A>G" "r.1629_1638del" "p.Gly545Profs*6" ""
"0000685630" "00004988" "90" "0" "0" "0" "0" "c.-256_778+1129{0}" "r.0?" "p.0?" "_1_5i"
"0000690593" "00004988" "50" "116" "0" "116" "0" "c.116G>C" "r.(?)" "p.(Arg39Pro)" ""
"0000690594" "00004988" "50" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Thr284Arg)" ""
"0000731352" "00004988" "70" "1449" "0" "1449" "0" "c.1449dup" "r.(?)" "p.(Arg484Thrfs*4)" ""
"0000731353" "00004988" "90" "1209" "-2" "1209" "-2" "c.1209-2A>C" "r.spl" "p.?" ""
"0000731354" "00004988" "90" "0" "0" "0" "0" "c.-276_*305{0}" "r.0?" "p.0?" "_1_16_"
"0000731355" "00004988" "70" "1208" "2" "1208" "2" "c.1208+2T>A" "r.spl" "p.?" ""
"0000731356" "00004988" "90" "0" "0" "0" "0" "c.-256_778+1129{0}" "r.0?" "p.0?" "_1_5i"
"0000731358" "00004988" "70" "1462" "-1" "1462" "-1" "c.1462-1G>T" "r.spl" "p.?" ""
"0000731359" "00004988" "90" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" ""
"0000731361" "00004988" "90" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" ""
"0000731363" "00004988" "90" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" ""
"0000731584" "00004988" "70" "827" "0" "827" "0" "c.827del" "r.(?)" "p.(Leu276Cysfs*2)" ""
"0000733259" "00004988" "70" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Ser147Leu)" ""
"0000763464" "00004988" "50" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Ile172Arg)" "4"
"0000763466" "00004988" "50" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Ile172Arg)" "4"
"0000763467" "00004988" "90" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Lys179Argfs*10)" "4"
"0000763622" "00004988" "70" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" ""
"0000763623" "00004988" "70" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Trp322Ter)" ""
"0000764097" "00004988" "90" "1033" "0" "1033" "0" "c.1033G>T" "r.1033g>u" "p.(Gly345*)" "8"
"0000804203" "00004988" "30" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Ala12Val)" ""
"0000819846" "00004988" "70" "1403" "0" "1405" "0" "c.1403_1405delinsCTTT" "r.(?)" "p.(Leu468Profs*13)" ""
"0000820734" "00004988" "70" "1427" "0" "1427" "0" "c.1427del" "r.(?)" "p.(Val476Glyfs*2)" ""
"0000828316" "00004988" "70" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Pro)" ""
"0000852321" "00004988" "50" "1174" "0" "1174" "0" "c.1174C>A" "r.(?)" "p.(Pro392Thr)" ""
"0000861744" "00004988" "30" "426" "15" "426" "15" "c.426+15A>G" "r.(=)" "p.(=)" ""
"0000888901" "00004988" "70" "580" "0" "584" "0" "c.580_584del" "r.(?)" "p.(Asp194Hisfs*14)" ""
"0000888902" "00004988" "10" "955" "0" "955" "0" "c.955G>C" "r.(?)" "p.(Glu319Gln)" ""
"0000913182" "00004988" "30" "427" "-19" "427" "-19" "c.427-19C>T" "r.(=)" "p.(=)" ""
"0000913183" "00004988" "90" "1449" "0" "1449" "0" "c.1449dup" "r.(?)" "p.(Arg484Thrfs*4)" ""
"0000917866" "00004988" "90" "" "0" "" "0" "c.-276_*305{0}" "r.0" "p.0" ""
"0000917867" "00004988" "90" "254" "-1" "254" "-1" "c.254-1G>T" "r.spl" "p.?" ""
"0000917868" "00004988" "90" "1629" "-7" "1629" "-7" "c.1629-7C>A" "r.spl" "p.?" ""
"0000917869" "00004988" "90" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Trp212Ter)" ""
"0000917870" "00004988" "90" "" "0" "" "0" "c.-276_*305{1}" "r.?" "p.?" ""
"0000917871" "00004988" "90" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Ser147Leu)" ""
"0000917872" "00004988" "90" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" ""
"0000917885" "00004988" "90" "211" "0" "211" "0" "c.211del" "r.(?)" "p.(Val71SerfsTer18)" ""
"0000917886" "00004988" "90" "323" "0" "323" "0" "c.323T>G" "r.(?)" "p.(Leu108Trp)" ""
"0000917887" "00004988" "90" "" "0" "" "0" "c.-276_*305{0}" "r.0" "p.0" ""
"0000933366" "00004988" "90" "473" "0" "473" "0" "c.473G>T" "r.(?)" "p.(Cys158Phe)" ""
"0000949310" "00004988" "30" "1629" "-6" "1629" "-6" "c.1629-6dup" "r.(=)" "p.(=)" ""
"0000949311" "00004988" "30" "2080" "0" "2080" "0" "c.2080A>C" "r.(?)" "p.(Arg694=)" ""
"0000949312" "00004988" "30" "6271" "0" "6271" "0" "c.*4102A>T" "r.(=)" "p.(=)" ""
"0000958167" "00004988" "90" "1427" "0" "1427" "0" "c.1427del" "r.(?)" "p.(Val476GlyfsTer2)" ""
"0000958761" "00004988" "90" "827" "0" "827" "0" "c.827del" "r.(?)" "p.(Leu276CysfsTer2)" ""
"0000958776" "00004988" "70" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" ""
"0000958864" "00004988" "50" "515" "0" "515" "0" "c.515T>G" "r.(?)" "p.(Ile172Arg)" ""
"0000959227" "00004988" "90" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Trp322Ter)" ""
"0000965512" "00004988" "30" "1783" "0" "1783" "0" "c.1783C>A" "r.(?)" "p.(Gln595Lys)" ""
"0000978775" "00004988" "30" "1071" "0" "1071" "0" "c.1071A>G" "r.(?)" "p.(=)" ""
"0000986345" "00004988" "70" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" "3"
"0000986346" "00004988" "70" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Ser)" "3"
"0000986347" "00004988" "90" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Lys179ArgfsTer10)" "4"
"0000987206" "00004988" "70" "319" "0" "319" "0" "c.319C>T" "r.spl" "p.(Gln107Ter)" ""
"0000987306" "00004988" "70" "449" "0" "449" "0" "c.449T>C" "r.spl" "p.(Leu150Ser)" ""
"0001014565" "00004988" "30" "253" "20" "253" "20" "c.253+20A>G" "r.(=)" "p.(=)" ""
"0001014566" "00004988" "30" "1800" "17" "1800" "17" "c.1800+17G>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 63
"{{screeningid}}" "{{variantid}}"
"0000074601" "0000119260"
"0000074602" "0000119261"
"0000074602" "0000119262"
"0000074632" "0000119346"
"0000074633" "0000119347"
"0000074654" "0000119575"
"0000105497" "0000170932"
"0000156276" "0000358198"
"0000156277" "0000358199"
"0000156277" "0000358417"
"0000156278" "0000358200"
"0000270415" "0000603156"
"0000270416" "0000603157"
"0000270416" "0000603158"
"0000270417" "0000731361"
"0000310177" "0000685088"
"0000310178" "0000685089"
"0000310683" "0000685622"
"0000310684" "0000685623"
"0000310684" "0000685625"
"0000310685" "0000685626"
"0000310686" "0000685627"
"0000310689" "0000685630"
"0000333636" "0000731352"
"0000333636" "0000731356"
"0000333637" "0000731353"
"0000333637" "0000731354"
"0000333638" "0000731355"
"0000333640" "0000731358"
"0000333640" "0000731359"
"0000333643" "0000731363"
"0000333777" "0000731584"
"0000335250" "0000733259"
"0000363051" "0000763464"
"0000363053" "0000763466"
"0000363053" "0000763467"
"0000363171" "0000763622"
"0000363171" "0000763623"
"0000363442" "0000764097"
"0000390501" "0000819846"
"0000390501" "0000820734"
"0000396665" "0000828316"
"0000432399" "0000917866"
"0000432399" "0000917885"
"0000432400" "0000917867"
"0000432400" "0000917886"
"0000432401" "0000917868"
"0000432402" "0000917869"
"0000432402" "0000917887"
"0000432403" "0000917870"
"0000432404" "0000917871"
"0000432405" "0000917872"
"0000437911" "0000933366"
"0000448681" "0000958167"
"0000448994" "0000958761"
"0000449009" "0000958776"
"0000449009" "0000959227"
"0000449097" "0000958864"
"0000452362" "0000986345"
"0000452363" "0000986346"
"0000452364" "0000986347"
"0000452668" "0000987306"
"0000452861" "0000987206"