### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CABP4) # 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}}" "CABP4" "calcium binding protein 4" "11" "q13.1" "unknown" "NG_021211.1" "UD_132118503510" "" "https://www.LOVD.nl/CABP4" "" "1" "1386" "57010" "608965" "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/CABP4_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2020-11-12 11:35:30" "00000" "2024-08-28 13:16:32" ## 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}}" "00004227" "CABP4" "calcium binding protein 4" "001" "NM_145200.3" "" "NP_660201.1" "" "" "" "-77" "3943" "828" "67222818" "67229245" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02940" "CSRD;CSNB2B" "cone-rod synaptic disorder, congenital nonprogressive (CSRD, congenital stationary night blindness, type 2B (CSNB-2B))" "AR" "610427" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "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" "05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CABP4" "02940" ## Individuals ## Do not remove or alter this header ## ## Count = 45 "{{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}}" "00155401" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00246671" "" "" "" "2" "" "00006" "{PMID:Zeitz 2006:16960802}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "Switzerland" "" "0" "" "" "" "FamA" "00246672" "" "" "" "1" "" "00006" "{PMID:Zeitz 2006:16960802}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Switzerland" "" "0" "" "" "" "FamB" "00246673" "" "" "" "2" "" "00006" "{PMID:Littink 2009:19074807}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "Netherlands" "" "0" "" "" "" "FamPatII1/1" "00246674" "" "" "" "4" "" "00006" "{PMID:Aldahmesh 2010:20157620}" "2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "family" "00246676" "" "" "" "3" "" "00006" "{PMID:Khan 2013:23099293}" "generation family, 3 affected, unaffected heterozygous carrier parents/relatives" "" "yes" "Saudi Arabia" "" "0" "" "" "" "FamB" "00246677" "" "" "" "3" "" "00006" "{PMID:Khan 2013:23099293}" "generation family, 3 affected, unaffected heterozygous carrier parents/relatives" "" "yes" "Saudi Arabia" "" "0" "" "" "" "FamC" "00246678" "" "" "" "1" "" "00006" "{PMID:Khan 2013:23099293}" "generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "FamD" "00246679" "" "" "" "1" "" "00006" "{PMID:Zeitz 2015:25307992}, {DOI:Zeitz 2015:0.1016/j.preteyeres.2014.09.001}" "" "" "" "Germany" "" "0" "" "" "" "" "00290502" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290503" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290504" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309000" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328067" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G004712" "00328448" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16009408" "00333997" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "486" "00335091" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "7914" "00358922" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "" "" "" "China" "" "0" "" "" "Han" "Fam34" "00376648" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00377806" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "no" "Netherlands" "" "0" "" "" "" "" "00380284" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "Atypical inheritance and phenotype for PRPH2" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380285" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00381294" "" "" "" "3" "" "00008" "{PMID:Bijveld-2013:23714322}" "2 female, 1 male" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00382238" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "67" "00382239" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "68" "00382501" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "363" "00386224" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-183, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-402" "00386907" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI678_001361" "00389059" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 115, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "343" "00389679" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 431, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "963" "00389680" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 431, cone dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "964" "00389757" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 610, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1041" "00390183" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004712" "00390477" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005184" "00394365" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "CSNB" "00413590" "" "" "" "1" "" "00000" "{PMID:Khan 2014:24332535};{PMID:Schatz 2017:28635425}" "Saudi family proband" "M" "" "" "" "0" "" "" "" "Patient 2" "00413591" "" "" "" "1" "" "00000" "{PMID:Khan 2014:24332535};{PMID:Schatz 2017:28635425}" "proband" "M" "" "" "" "0" "" "" "" "Patient 5" "00413592" "" "" "" "1" "" "00000" "{PMID:Smirnov 2018:29525873}" "proband, an isolated case" "" "" "" "" "0" "" "" "" "II:4" "00436421" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "likely" "Mexico" "" "" "yes" "None" "Hispanic" "2589235" "00447005" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-464" "00447546" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CSNB-86" "00450722" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073385" "00450723" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073386" "00451064" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "066825" "00451270" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073347" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 45 "{{individualid}}" "{{diseaseid}}" "00155401" "04210" "00246671" "05130" "00246672" "05130" "00246673" "05130" "00246674" "04210" "00246676" "05130" "00246677" "05130" "00246678" "05130" "00246679" "05130" "00290502" "00198" "00290503" "00198" "00290504" "00198" "00309000" "04214" "00328067" "04214" "00328448" "04214" "00333997" "04214" "00335091" "00198" "00358922" "04214" "00376648" "04214" "00377806" "04214" "00380284" "04214" "00380285" "04214" "00381294" "04214" "00382238" "04214" "00382239" "04214" "00382501" "04214" "00386224" "04214" "00386907" "04214" "00389059" "04214" "00389679" "04214" "00389680" "04214" "00389757" "04214" "00390183" "04214" "00390477" "04214" "00394365" "04214" "00413590" "04214" "00413591" "04214" "00413592" "04214" "00436421" "04211" "00447005" "00198" "00447546" "00198" "00450722" "04249" "00450723" "04249" "00451064" "04249" "00451270" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02940, 04210, 04211, 04214, 04249, 05130 ## Count = 40 "{{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}}" "0000127901" "04210" "00155401" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000186518" "05130" "00246671" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNB-2B" "congenital stationary night blindness" "" "0000186519" "05130" "00246672" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNB-2B" "severe combined immunodeficiency" "" "0000186520" "05130" "00246673" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSRD" "congenital stationary night blindness" "" "0000186521" "04210" "00246674" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNB-2B" "Leber congenital amaurosis" "" "0000186522" "05130" "00246676" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000186523" "05130" "00246677" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000186524" "05130" "00246678" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000186525" "05130" "00246679" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNB-2B" "severe combined immunodeficiency" "" "0000234320" "04214" "00309000" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000246294" "04214" "00328067" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000246674" "04214" "00328448" "00000" "Familial, autosomal recessive" "3y" "cone dysfunction syndrome (HP:0030637)" "" "" "" "" "" "" "" "" "" "cone dysfunction syndrome" "" "0000252182" "04214" "00333997" "00000" "Familial, autosomal recessive" "33y" "clinical category IA2g" "" "" "" "" "" "" "" "" "" "congenital stationary cone dysfunction v achromatopsia" "" "0000252806" "00198" "00335091" "00000" "Unknown" "" "6y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254182" "04214" "00358922" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000271855" "04214" "00376648" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000272952" "04214" "00377806" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone–Rod Dystrophy" "" "0000274135" "04214" "00380284" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000274136" "04214" "00380285" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275145" "04214" "00381294" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000276087" "04214" "00382238" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000276088" "04214" "00382239" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Aland eye disease" "" "0000276350" "04214" "00382501" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "" "0000280027" "04214" "00386224" "00000" "Familial, autosomal recessive" "14y" "" "" "5y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280707" "04214" "00386907" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000282600" "04214" "00389059" "00000" "Familial, autosomal recessive" "33y" "age at genetic diagnosis mentioned" "" "27y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000283220" "04214" "00389679" "00000" "Familial, autosomal recessive" "31y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283221" "04214" "00389680" "00000" "Familial, autosomal recessive" "33y" "age at genetic diagnosis mentioned" "" "26y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283298" "04214" "00389757" "00000" "Familial, autosomal recessive" "10y" "age at genetic diagnosis mentioned" "" "8y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283721" "04214" "00390183" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284015" "04214" "00390477" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000287569" "04214" "00394365" "00000" "Familial, autosomal recessive" "" "Nystagmus, visual impairment, and hyperopia, flat electroretinogram" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "" "0000305564" "04214" "00413590" "00000" "Familial, autosomal dominant" "9y" "best corrected visual acuity first visit (age), follow up visit: fixates and follows (2), 20/80; refraction at follow-up: -1.50 = 1.50x130, +1 = 1x85212; full-field electroretinography at presentation, at follow-up - right eye; rod amplitude (A): 34, 87rod implicit time (it): 138, 122; rod-cone a wave (A): 135, 238; rod-cone a wave (it): 22, 17; rod-cone b wave (A): 105, 195; rod-cone b wave (it): 62, 31; cone a wave (A): 70, 75; cone a wave (it): 22, 18; cone b wave (A): 70, 81; cone b wave (it): 44, 37; 30 Hz flicker (A): 17, 18; 30 Hz flicker (it): 36, 29; red b1 (A): 27, 36; red b1 (it): 63, 65; normal values (respectively, range) 215-245, 103-380, 69-115, 164-378, 11-17, 284-705, 42-60, 54-117, 11-15, 96-239, 33-37, 96-259, 25-32, 51-197 , 42-53" "" "" "poor night vision, defective color vision, light sensitivity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305565" "04214" "00413591" "00000" "Familial, autosomal dominant" "9y" "best corrected visual acuity first visit (age), follow up visit: 20/80 (7), 20/70; refraction at follow-up: both eyes -6 = -2.5x0204; full-field electroretinography at presentation - right eye; rod amplitude (A): 0rod implicit time (it): 0; rod-cone a wave (A): 159; rod-cone a wave (it): 19; rod-cone b wave (A): 72; rod-cone b wave (it): 31; cone a wave (A): 54; cone a wave (it): 19; cone b wave (A): 28; cone b wave (it): 26; 30 Hz flicker (A): 42; 30 Hz flicker (it): 26; red b1 (A): 0; red b1 (it): 0; normal values (respectively, range) 215-245, 103-380, 69-115, 164-378, 11-17, 284-705, 42-60, 54-117, 11-15, 96-239, 33-37, 96-259, 25-32, 51-197 , 42-53" "" "" "poor night vision, defective color vision, light sensitivity" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000305566" "04214" "00413592" "00000" "Familial, autosomal dominant" "7y" "not visually responsive until 3m; then visual behaviour mildly improved (fixed and followed a light source), photophobia, horizonto-rotatory nystagmus of low amplitude and high frequency, increasing in lateral and superior gaze, consistent with an infantile nystagmus syndrome; small-angle right esotropia; anterior segment examination: iris transillumination at the iris root without any other anomaly; fundus: normal optic disc, no foveal reflex, a starburst macular aspect with fine radial folds at the vitreomacular interface, dark red dot lesion in both foveae; cull cycloplegic refraction right, left eye: +7.50(-1.0)180deg, +8.0(-2.0)10deg; full-field electroretinogram responses: markedly abnormal (first electroretinogram – 6m): dark-adaptation 0.01: a delayed and severely reduced b-wave, scotopic conditions, the dark-adaptation 0.01 electroretinogram b-wave severely reduced and delayed, dark-adaptation 3.0: simplified appearance with a reduced a-wave and a nearly flat b-wave; light-adaptation 3.0 electroretogram and light-adaptation 30 Hz severely reduced - suggestive of Leber congenital amaurosis; repeat electroretinogram 1y: dark-adaptation 3.0 electroretinogram a-wave reduced and simplified, b-wave delayed and severely reduced (b/a ratio 1.2); photopic adaptation, the cone-specific light-adaptation 3.0 electroretinogram a-wave present and reduced, the b-wave more severely reduced compared to dark-adaptation 3.0 electroretinogram b/a ratio 0.8 (normal 1.4) - electronegative waveform found in response to both dark-adaptation 3.0 and light-adaptation 3.0 stimulations; light-adaptation 30-Hz flicker of markedly reduced amplitude. 7y: attending a specialized school for visually impaired children; behavioural problems (autism-spectrum disorder); complained of photophobia; corrected distance visual acuity right / left eye: 0.008 (decimals, 4/480, logMAR 2.1) / 0.005 (decimals, 4/500, logMAR 2.3) after high hyperopia correction; near visual acuity better; Farnsworth 15-Hue test: multiple ranking errors without any axis. optical coherence tomography: foveal gap in the ellipsoid zone, parafoveal scans a saw-tooth irregularity at the level of inner limiting membrane fundus autofluorescence: normal; infrared reflectance imaging: enhanced an aspect of a dark foveal dot and radial macular folds already seen at colour fundus photographs" "" "" "" "" "" "" "" "" "incomplete congenital stationary night blindness" "Leber congenital amaurosis" "" "0000326602" "04211" "00436421" "04552" "Familial, autosomal recessive" "35y, 44y" "Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510" "03y" "44y" "35y" "" "" "" "" "" "" "35y" "" "0000336204" "00198" "00447005" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336745" "00198" "00447546" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000339777" "04249" "00450722" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (AR)" "" "0000339778" "04249" "00450723" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (AR)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 45 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156266" "00155401" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000247782" "00246671" "1" "00006" "00006" "2019-07-15 21:53:05" "00006" "2019-07-15 21:55:41" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000247783" "00246672" "1" "00006" "00006" "2019-07-15 21:59:24" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000247784" "00246673" "1" "00006" "00006" "2019-07-15 22:11:32" "" "" "SEQ" "DNA" "" "" "0000247785" "00246674" "1" "00006" "00006" "2019-07-15 22:18:57" "" "" "SEQ" "DNA" "" "" "0000247786" "00246676" "1" "00006" "00006" "2019-07-15 22:30:19" "" "" "SEQ" "DNA" "" "" "0000247787" "00246677" "1" "00006" "00006" "2019-07-15 22:30:19" "" "" "SEQ" "DNA" "" "" "0000247788" "00246678" "1" "00006" "00006" "2019-07-15 22:30:19" "" "" "SEQ" "DNA" "" "" "0000247790" "00246679" "1" "00006" "00006" "2019-07-15 22:36:33" "" "" "SEQ" "DNA" "" "" "0000291670" "00290502" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291671" "00290503" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291672" "00290504" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310145" "00309000" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329282" "00328067" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329663" "00328448" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000335223" "00333997" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336320" "00335091" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360155" "00358922" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000377853" "00376648" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000379010" "00377806" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000381498" "00380284" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381499" "00380285" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000382509" "00381294" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000383452" "00382238" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383453" "00382239" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383715" "00382501" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000387453" "00386224" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388135" "00386907" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000390302" "00389059" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390922" "00389679" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390923" "00389680" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper" "0000391000" "00389757" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391424" "00390183" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391718" "00390477" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000395612" "00394365" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000414869" "00413590" "1" "00000" "03840" "2022-07-19 20:59:03" "" "" "?" "DNA" "blood" "retrospective study" "0000414870" "00413591" "1" "00000" "03840" "2022-07-19 20:59:03" "" "" "?" "DNA" "blood" "retrospective study" "0000414871" "00413592" "1" "00000" "03840" "2022-07-20 11:31:23" "" "" "SEQ" "DNA" "blood" "" "0000437905" "00436421" "1" "04552" "04552" "2023-09-14 20:36:26" "" "" "SEQ-NG-I" "DNA" "Buccal swab" "Retinal dystrophy panel" "0000448582" "00447005" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449123" "00447546" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452320" "00450722" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452321" "00450723" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452663" "00451064" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452869" "00451270" "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 = 36 "{{screeningid}}" "{{geneid}}" "0000156266" "CABP4" "0000247782" "CABP4" "0000247783" "CABP4" "0000247784" "CABP4" "0000247785" "CABP4" "0000247786" "CABP4" "0000247787" "CABP4" "0000247788" "CABP4" "0000247790" "CABP4" "0000310145" "CABP4" "0000329282" "CABP4" "0000329663" "CABP4" "0000335223" "CABP4" "0000336320" "CABP4" "0000360155" "CABP4" "0000377853" "CABP4" "0000379010" "CABP4" "0000381498" "CABP4" "0000381499" "CABP4" "0000382509" "CABP4" "0000383452" "CABP4" "0000383453" "CABP4" "0000383715" "CABP4" "0000387453" "C21orf2" "0000388135" "CABP4" "0000390302" "CABP4" "0000390922" "CABP4" "0000390923" "CABP4" "0000391000" "CABP4" "0000391424" "CABP4" "0000391718" "CABP4" "0000395612" "CABP4" "0000414869" "CABP4" "0000414870" "CABP4" "0000414871" "CABP4" "0000437905" "CABP4" ## 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 = 90 "{{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}}" "0000263908" "0" "10" "11" "67223140" "67223140" "subst" "3.56138E-5" "02330" "CABP4_000003" "g.67223140C>A" "" "" "" "CABP4(NM_145200.5):c.246C>A (p.G82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67455669C>A" "" "benign" "" "0000263909" "0" "10" "11" "67223209" "67223209" "subst" "4.60299E-5" "02330" "CABP4_000004" "g.67223209C>T" "" "" "" "CABP4(NM_145200.5):c.315C>T (p.H105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67455738C>T" "" "benign" "" "0000263910" "0" "10" "11" "67223254" "67223254" "subst" "0.00337116" "02330" "CABP4_000005" "g.67223254C>T" "" "" "" "CABP4(NM_145200.3):c.360C>T (p.F120=), CABP4(NM_145200.5):c.360C>T (p.F120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67455783C>T" "" "benign" "" "0000263911" "0" "10" "11" "67222947" "67222947" "subst" "0.00150625" "02330" "CABP4_000001" "g.67222947G>A" "" "" "" "CABP4(NM_145200.5):c.53G>A (p.R18H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67455476G>A" "" "benign" "" "0000272394" "0" "30" "11" "67223254" "67223254" "subst" "0.00337116" "01943" "CABP4_000005" "g.67223254C>T" "" "" "" "CABP4(NM_145200.3):c.360C>T (p.F120=), CABP4(NM_145200.5):c.360C>T (p.F120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67455783C>T" "" "likely benign" "" "0000272395" "0" "50" "11" "67223856" "67223856" "subst" "4.06762E-6" "01943" "CABP4_000006" "g.67223856G>C" "" "" "" "CABP4(NM_145200.3):c.484G>C (p.G162R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67456385G>C" "" "VUS" "" "0000272396" "0" "50" "11" "67225864" "67225864" "subst" "0.000126356" "01943" "CABP4_000007" "g.67225864G>A" "" "" "" "CABP4(NM_145200.3):c.674G>A (p.R225Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67458393G>A" "" "VUS" "" "0000272397" "0" "30" "11" "67222962" "67222962" "subst" "0.00011391" "01943" "CABP4_000002" "g.67222962C>T" "" "" "" "CABP4(NM_145200.3):c.68C>T (p.A23V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67455491C>T" "" "likely benign" "" "0000338607" "0" "10" "11" "67223920" "67223920" "subst" "0" "02327" "CABP4_000008" "g.67223920C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67456449C>T" "" "benign" "" "0000338608" "0" "10" "11" "67223921" "67223921" "subst" "0.428414" "02327" "CABP4_000009" "g.67223921A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67456450A>C" "" "benign" "" "0000338609" "0" "10" "11" "67226097" "67226097" "subst" "0.0589777" "02327" "CABP4_000012" "g.67226097C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67458626C>T" "" "benign" "" "0000342229" "0" "90" "11" "67225125" "67225125" "dup" "0" "02327" "CABP4_000010" "g.67225125dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67457654dup" "" "pathogenic" "" "0000342256" "0" "90" "11" "67225148" "67225148" "subst" "5.84087E-5" "02327" "CABP4_000011" "g.67225148C>T" "" "" "" "CABP4(NM_001300895.1):c.331C>T (p.R111*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67457677C>T" "" "pathogenic" "" "0000358188" "3" "90" "11" "67225947" "67225947" "subst" "8.12275E-6" "01243" "CABP4_000013" "g.67225947C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.67458476C>T" "" "pathogenic" "" "0000500665" "3" "90" "11" "67226102" "67226103" "del" "0" "00006" "CABP4_000014" "g.67226102_67226103del" "" "{PMID:Zeitz 2006:16960802}" "" "800_801delAG" "" "Germline" "yes" "" "0" "" "" "g.67458631_67458632del" "" "pathogenic (recessive)" "" "0000500666" "11" "90" "11" "67226102" "67226103" "del" "0" "00006" "CABP4_000014" "g.67226102_67226103del" "" "{PMID:Zeitz 2006:16960802}" "" "800_801delAG" "" "Germline" "" "" "0" "" "" "g.67458631_67458632del" "" "pathogenic (recessive)" "" "0000500667" "21" "90" "11" "67223662" "67223662" "subst" "0.000170848" "00006" "CABP4_000015" "g.67223662C>T" "" "{PMID:Zeitz 2006:16960802}" "" "" "" "Germline" "" "rs121917828" "0" "" "" "g.67456191C>T" "" "pathogenic (recessive)" "" "0000500668" "3" "90" "11" "67225148" "67225148" "subst" "5.84087E-5" "00006" "CABP4_000011" "g.67225148C>T" "" "{PMID:Littink 2009:19074807}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67457677C>T" "" "pathogenic (recessive)" "" "0000500669" "3" "90" "11" "67222975" "67222976" "ins" "0" "00006" "CABP4_000016" "g.67222975_67222976insA" "" "{PMID:Aldahmesh 2010:20157620}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67455504_67455505insA" "" "pathogenic (recessive)" "" "0000500670" "3" "90" "11" "67222975" "67222976" "ins" "0" "00006" "CABP4_000016" "g.67222975_67222976insA" "" "{PMID:Khan 2013:23099293}" "" "" "" "Germline" "" "" "0" "" "" "g.67455504_67455505insA" "" "pathogenic (recessive)" "" "0000500671" "3" "90" "11" "67222975" "67222976" "ins" "0" "00006" "CABP4_000016" "g.67222975_67222976insA" "" "{PMID:Khan 2013:23099293}" "" "" "" "Germline" "" "" "0" "" "" "g.67455504_67455505insA" "" "pathogenic (recessive)" "" "0000500672" "3" "90" "11" "67222975" "67222976" "ins" "0" "00006" "CABP4_000016" "g.67222975_67222976insA" "" "{PMID:Khan 2013:23099293}" "" "" "" "Germline" "" "" "0" "" "" "g.67455504_67455505insA" "" "pathogenic (recessive)" "" "0000500674" "3" "90" "11" "67223048" "67223048" "subst" "1.36287E-5" "00006" "CABP4_000017" "g.67223048C>T" "" "{PMID:Zeitz 2015:25307992}, {DOI:Zeitz 2015:0.1016/j.preteyeres.2014.09.001}" "" "" "" "Germline" "" "" "0" "" "" "g.67455577C>T" "" "pathogenic (recessive)" "" "0000545371" "0" "30" "11" "67223108" "67223108" "subst" "0.000162949" "01943" "CABP4_000018" "g.67223108A>C" "" "" "" "CABP4(NM_145200.3):c.214A>C (p.N72H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67455637A>C" "" "likely benign" "" "0000545372" "0" "30" "11" "67223136" "67223136" "subst" "0.000313603" "02330" "CABP4_000019" "g.67223136C>T" "" "" "" "CABP4(NM_145200.5):c.242C>T (p.A81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67455665C>T" "" "likely benign" "" "0000545373" "0" "30" "11" "67223182" "67223182" "subst" "8.67551E-6" "02330" "CABP4_000020" "g.67223182C>T" "" "" "" "CABP4(NM_145200.5):c.288C>T (p.S96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67455711C>T" "" "likely benign" "" "0000545374" "0" "50" "11" "67223614" "67223614" "subst" "0.000212434" "02330" "CABP4_000021" "g.67223614G>A" "" "" "" "CABP4(NM_001300895.1):c.7G>A (p.E3K), CABP4(NM_001300895.3):c.7G>A (p.E3K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67456143G>A" "" "VUS" "" "0000545376" "0" "30" "11" "67225161" "67225161" "subst" "0" "01943" "CABP4_000023" "g.67225161G>A" "" "" "" "CABP4(NM_001300895.1):c.336+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67457690G>A" "" "likely benign" "" "0000545377" "0" "50" "11" "67225168" "67225168" "subst" "0.00056771" "02330" "CABP4_000024" "g.67225168G>A" "" "" "" "CABP4(NM_001300895.3):c.336+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67457697G>A" "" "VUS" "" "0000545378" "0" "70" "11" "67226102" "67226103" "del" "0" "02330" "CABP4_000014" "g.67226102_67226103del" "" "" "" "CABP4(NM_001300895.3):c.485-2_485-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67458631_67458632del" "" "likely pathogenic" "" "0000648359" "1" "50" "11" "67223175" "67223175" "subst" "0.000927886" "03575" "CABP4_000025" "g.67223175G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs143040005}" "Germline" "" "rs143040005" "0" "" "" "g.67455704G>A" "" "VUS" "" "0000648360" "1" "90" "11" "67223662" "67223662" "subst" "0.000170848" "03575" "CABP4_000015" "g.67223662C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121917828}" "Germline" "" "rs121917828" "0" "" "" "g.67456191C>T" "" "pathogenic" "" "0000648361" "1" "50" "11" "67223827" "67223827" "subst" "0.000300767" "03575" "CABP4_000026" "g.67223827G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs143257000}" "Germline" "" "rs143257000" "0" "" "" "g.67456356G>A" "" "VUS" "" "0000679305" "0" "50" "11" "67225049" "67225049" "subst" "0.000582768" "01943" "CABP4_000027" "g.67225049G>C" "" "" "" "CABP4(NM_001300895.1):c.232G>C (p.G78R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679306" "0" "90" "11" "67225863" "67225863" "subst" "8.16247E-6" "01943" "CABP4_000028" "g.67225863C>T" "" "" "" "CABP4(NM_001300895.1):c.358C>T (p.R120*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000685056" "0" "90" "11" "67225947" "67225947" "subst" "8.12275E-6" "00004" "CABP4_000013" "g.67225947C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000691151" "0" "50" "11" "67219462" "67219462" "subst" "0.000123279" "01943" "CABP4_000029" "g.67219462G>A" "" "" "" "GPR152(NM_206997.1):c.734C>T (p.A245V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691152" "0" "50" "11" "67219806" "67219806" "subst" "8.35904E-6" "01943" "CABP4_000030" "g.67219806G>T" "" "" "" "GPR152(NM_206997.1):c.390C>A (p.C130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691153" "0" "90" "11" "67225148" "67225148" "subst" "5.84087E-5" "01943" "CABP4_000011" "g.67225148C>T" "" "" "" "CABP4(NM_001300895.1):c.331C>T (p.R111*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000713405" "3" "90" "11" "67225863" "67225863" "subst" "8.16247E-6" "00000" "CABP4_000028" "g.67225863C>T" "" "{PMID:Carss 2017:28041643}" "" "11:67225863C>T ENST00000325656.5:c.673C>T (Arg225Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714020" "3" "70" "11" "67225863" "67225863" "subst" "8.16247E-6" "00000" "CABP4_000028" "g.67225863C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.67458392C>T" "" "likely pathogenic (recessive)" "" "0000723651" "0" "50" "11" "67223175" "67223175" "subst" "0.000927886" "01943" "CABP4_000025" "g.67223175G>A" "" "" "" "CABP4(NM_145200.3):c.281G>A (p.R94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723652" "0" "30" "11" "67223614" "67223614" "subst" "0.000212434" "01943" "CABP4_000021" "g.67223614G>A" "" "" "" "CABP4(NM_001300895.1):c.7G>A (p.E3K), CABP4(NM_001300895.3):c.7G>A (p.E3K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733232" "1" "70" "11" "67223039" "67223039" "subst" "1.38873E-5" "00000" "CABP4_000031" "g.67223039C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.67455568C>T" "" "likely pathogenic" "" "0000733649" "2" "70" "11" "67223261" "67223261" "subst" "4.93127E-5" "00000" "CABP4_000032" "g.67223261G>T" "" "{PMID:Stone 2017:28559085}" "" "IVS1+1G>T" "" "Germline" "" "" "0" "" "" "g.67455790G>T" "" "likely pathogenic" "" "0000735595" "0" "90" "11" "67225148" "67225148" "subst" "5.84087E-5" "00000" "CABP4_000011" "g.67225148C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.67457677C>T" "" "pathogenic" "" "0000735720" "0" "90" "11" "67225148" "67225148" "subst" "5.84087E-5" "00000" "CABP4_000011" "g.67225148C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.67457677C>T" "" "pathogenic" "" "0000759853" "1" "70" "11" "67223246" "67223246" "subst" "0" "00000" "CABP4_000033" "g.67223246C>T" "" "{PMID:Wang 2016:27422788}" "" "c.C352T p.R118X" "" "Germline" "" "" "0" "" "" "g.67455775C>T" "" "likely pathogenic" "" "0000759881" "2" "70" "11" "67223836" "67223836" "subst" "6.50258E-5" "00000" "CABP4_000034" "g.67223836G>A" "" "{PMID:Wang 2016:27422788}" "" "c.G464A p.G155D" "" "Germline" "" "" "0" "" "" "g.67456365G>A" "" "likely pathogenic" "" "0000790281" "0" "90" "11" "67223662" "67223662" "subst" "0.000170848" "00000" "CABP4_000015" "g.67223662C>T" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790282" "0" "90" "11" "67226102" "67226103" "del" "0" "00000" "CABP4_000014" "g.67226102_67226103delAG" "" "{PMID:Zeitz-2009:19578023}" "" "c.800_801delAG (p.Glu267ValfsX92)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792030" "3" "50" "11" "67225148" "67225148" "subst" "5.84087E-5" "00000" "CABP4_000011" "g.67225148C>T" "" "{PMID:Littink 2010:20554613}" "" "c.646C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794959" "3" "50" "11" "67222975" "67222976" "ins" "0" "00000" "CABP4_000016" "g.67222975_67222976insA" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.81_82insA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000794960" "3" "50" "11" "67222975" "67222976" "ins" "0" "00000" "CABP4_000016" "g.67222975_67222976insA" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.81_82insA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000796340" "3" "90" "11" "67225148" "67225148" "subst" "5.84087E-5" "00000" "CABP4_000011" "g.67225148C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.646C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797548" "0" "70" "11" "67225963" "67225963" "subst" "4.06078E-6" "00000" "CABP4_000035" "g.67225963A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CABP4 c.773A>T, p.(Asn258Ile), c.646C>T, p.(Arg216*)" "" "Germline" "?" "" "0" "" "" "g.67458492A>T" "" "likely pathogenic" "ACMG" "0000797549" "0" "70" "11" "67225148" "67225148" "subst" "5.84087E-5" "00000" "CABP4_000011" "g.67225148C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CABP4 c.773A>T, p.(Asn258Ile), c.646C>T, p.(Arg216*)" "" "Germline" "?" "" "0" "" "" "g.67457677C>T" "" "likely pathogenic" "ACMG" "0000797550" "3" "70" "11" "67225963" "67225963" "subst" "4.06078E-6" "00000" "CABP4_000035" "g.67225963A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CABP4 c.773A>T, p.(Asn258Ile), c.773A>T, p.(Asn258Ile)" "homozygous" "Germline" "?" "" "0" "" "" "g.67458492A>T" "" "likely pathogenic" "ACMG" "0000797953" "0" "50" "11" "67225963" "67225963" "subst" "4.06078E-6" "00000" "CABP4_000035" "g.67225963A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CABP4 c.646C>Tp.(Arg216*), c.773A>T, p.(Asn258Ile)" "" "Germline" "?" "" "0" "" "" "g.67458492A>T" "" "VUS" "ACMG" "0000797954" "0" "90" "11" "67225148" "67225148" "subst" "5.84087E-5" "00000" "CABP4_000011" "g.67225148C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "CABP4 c.646C>Tp.(Arg216*), c.773A>T, p.(Asn258Ile)" "" "Germline" "?" "" "0" "" "" "g.67457677C>T" "" "pathogenic" "ACMG" "0000805329" "0" "50" "11" "67223049" "67223049" "subst" "0.000402759" "01943" "CABP4_000036" "g.67223049G>A" "" "" "" "CABP4(NM_145200.3):c.155G>A (p.R52Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805330" "0" "30" "11" "67225141" "67225141" "subst" "0" "01943" "CABP4_000037" "g.67225141C>T" "" "" "" "CABP4(NM_001300895.1):c.324C>T (p.I108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815487" "0" "50" "11" "67225049" "67225049" "subst" "0.000582768" "00000" "CABP4_000027" "g.67225049G>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CABP4:NM_145200 c.G547C, p.G183R" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.67457578G>C" "" "VUS" "ACMG" "0000816293" "0" "50" "11" "67223186" "67223186" "subst" "0" "00000" "CABP4_000038" "g.67223186C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "CABP4 c.292C>T, p.Arg98Ter" "unsolved" "Unknown" "?" "" "0" "" "" "g.67455715C>T" "" "VUS" "" "0000819647" "1" "70" "11" "67225148" "67225148" "subst" "5.84087E-5" "00000" "CABP4_000011" "g.67225148C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CABP4, variant 1: c.646C>T/p.R216*, variant 2: c.646C>T/p.R216*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.67457677C>T" "" "likely pathogenic" "" "0000820267" "1" "70" "11" "67223167" "67223167" "del" "0" "00000" "CABP4_000039" "g.67223167del" "" "{PMID:Weisschuh 2020:32531858}" "" "CABP4, variant 1: c.273del/p.S92Lfs*40, variant 2: c.273del/p.S92Lfs*40" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.67455696del" "" "likely pathogenic" "" "0000820268" "1" "70" "11" "67223167" "67223167" "del" "0" "00000" "CABP4_000039" "g.67223167del" "" "{PMID:Weisschuh 2020:32531858}" "" "CABP4, variant 1: c.273del/p.S92Lfs*40, variant 2: c.273del/p.S92Lfs*40" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.67455696del" "" "likely pathogenic" "" "0000820345" "1" "70" "11" "67226102" "67226103" "del" "0" "00000" "CABP4_000014" "g.67226102_67226103del" "" "{PMID:Weisschuh 2020:32531858}" "" "CABP4, variant 1: c.800_801del/p.E267Vfs*92, variant 2: c.800_801del/p.E267Vfs*92" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.67458631_67458632del" "" "likely pathogenic" "" "0000821173" "3" "70" "11" "67225863" "67225863" "subst" "8.16247E-6" "00000" "CABP4_000028" "g.67225863C>T" "" "{PMID:Turro 2020:32581362}" "" "CABP4 c.673C>T, p.Arg225Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.67458392C>T" "" "likely pathogenic" "" "0000821468" "3" "70" "11" "67226084" "67226925" "del" "0" "00000" "CABP4_000040" "g.67226084_67226925del" "" "{PMID:Turro 2020:32581362}" "" "chr11:g.67226084_67226925del" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000827003" "0" "70" "11" "67223261" "67223261" "subst" "4.93127E-5" "00000" "CABP4_000032" "g.67223261G>T" "" "{PMID:Thorsteinsson 2021:33851411}" "" "CABP4 c.366+1G>T," "homozygous" "Unknown" "?" "" "0" "" "" "g.67455790G>T" "" "likely pathogenic" "" "0000853119" "0" "50" "11" "67222941" "67222941" "subst" "5.06329E-5" "01943" "CABP4_000041" "g.67222941T>C" "" "" "" "CABP4(NM_145200.3):c.47T>C (p.I16T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862656" "0" "30" "11" "67226004" "67226004" "subst" "0.00064165" "02330" "CABP4_000042" "g.67226004C>T" "" "" "" "CABP4(NM_001300895.3):c.484+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872589" "3" "70" "11" "67222975" "67222976" "ins" "0" "00000" "CABP4_000016" "g.67222975_67222976insA" "" "{PMID:Khan 2014:24332535}, {PMID:Schatz 2017:28635425}" "" "CABP4 c.81-82insA; p.Pro28" "homozygous; error in protein annotation, termination codon after 4 and not 44 amino acids" "Germline" "yes" "" "0" "" "" "g.67455504_67455505insA" "" "likely pathogenic (recessive)" "" "0000872590" "3" "70" "11" "67222895" "67222895" "subst" "0" "00000" "CABP4_000043" "g.67222895A>G" "" "{PMID:Khan 2014:24332535}, {PMID:Schatz 2017:28635425}" "" "CABP4 c.1A>G; p.Met1?" "homozygous" "Germline" "yes" "" "0" "" "" "g.67455424A>G" "" "likely pathogenic (recessive)" "" "0000872591" "11" "70" "11" "67225148" "67225148" "subst" "5.84087E-5" "00000" "CABP4_000011" "g.67225148C>T" "" "{PMID:Smirnov 2018:29525873}" "" "CABP4 c.646C > T, p.Arg216*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.67457677C>T" "" "likely pathogenic (recessive)" "" "0000872592" "21" "70" "11" "67225863" "67225863" "subst" "8.16247E-6" "00000" "CABP4_000028" "g.67225863C>T" "" "{PMID:Smirnov 2018:29525873}" "" "CABP4 c.673C > T, p.Arg225*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.67458392C>T" "" "likely pathogenic (recessive)" "" "0000890115" "0" "30" "11" "67222963" "67222963" "subst" "7.90202E-5" "02330" "CABP4_000044" "g.67222963G>A" "" "" "" "CABP4(NM_145200.5):c.69G>A (p.A23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890116" "0" "10" "11" "67225831" "67225831" "subst" "0.00140512" "02330" "CABP4_000045" "g.67225831G>A" "" "" "" "CABP4(NM_001300895.3):c.337-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913676" "0" "70" "11" "67223662" "67223662" "subst" "0.000170848" "02327" "CABP4_000015" "g.67223662C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000933356" "3" "90" "11" "67223048" "67223048" "subst" "1.36287E-5" "04552" "CABP4_000017" "g.67223048C>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "NM_145200.5:c.154C>T" "{CV:242520}" "pathogenic" "ACMG" "0000958456" "0" "50" "11" "67225157" "67225157" "subst" "0" "00006" "CABP4_000046" "g.67225157C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.67457686C>T" "" "VUS" "ACMG" "0000958457" "0" "50" "11" "67225948" "67225948" "subst" "6.09221E-5" "00006" "CABP4_000047" "g.67225948G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.67458477G>A" "" "VUS" "ACMG" "0000958890" "0" "50" "11" "67223662" "67223662" "subst" "0.000170848" "00006" "CABP4_000015" "g.67223662C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.67456191C>T" "" "VUS" "ACMG" "0000959331" "0" "90" "11" "67226102" "67226103" "del" "0" "00006" "CABP4_000014" "g.67226102_67226103del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_MODERATE, PP5_STRONG" "Germline" "" "" "0" "" "" "g.67458631_67458632del" "" "pathogenic (recessive)" "ACMG" "0000986303" "3" "90" "11" "67223186" "67223186" "subst" "0" "04405" "CABP4_000038" "g.67223186C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.67455715C>T" "" "pathogenic" "ACMG" "0000986304" "3" "50" "11" "67222895" "67222895" "subst" "0" "04405" "CABP4_000043" "g.67222895A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.67455424A>G" "" "VUS" "ACMG" "0000987008" "0" "70" "11" "67223787" "67223787" "subst" "8.12513E-6" "00006" "CABP4_000048" "g.67223787G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.67456316G>T" "" "likely pathogenic" "ACMG" "0000987214" "0" "90" "11" "67225148" "67225148" "subst" "5.84087E-5" "00006" "CABP4_000011" "g.67225148C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.67457677C>T" "" "pathogenic" "ACMG" "0000999394" "0" "70" "11" "67225863" "67225863" "subst" "8.16247E-6" "02327" "CABP4_000028" "g.67225863C>T" "" "" "" "CABP4(NM_001300895.1):c.358C>T (p.R120*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CABP4 ## Count = 90 "{{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}}" "0000263908" "00004227" "10" "246" "0" "246" "0" "c.246C>A" "r.(?)" "p.(Gly82=)" "" "0000263909" "00004227" "10" "315" "0" "315" "0" "c.315C>T" "r.(?)" "p.(His105=)" "" "0000263910" "00004227" "10" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Phe120=)" "" "0000263911" "00004227" "10" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18His)" "" "0000272394" "00004227" "30" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Phe120=)" "" "0000272395" "00004227" "50" "484" "0" "484" "0" "c.484G>C" "r.(?)" "p.(Gly162Arg)" "" "0000272396" "00004227" "50" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225Gln)" "" "0000272397" "00004227" "30" "68" "0" "68" "0" "c.68C>T" "r.(?)" "p.(Ala23Val)" "" "0000338607" "00004227" "10" "541" "7" "541" "7" "c.541+7C>T" "r.(=)" "p.(=)" "" "0000338608" "00004227" "10" "541" "8" "541" "8" "c.541+8A>C" "r.(=)" "p.(=)" "" "0000338609" "00004227" "10" "800" "-5" "800" "-5" "c.800-5C>T" "r.spl?" "p.?" "" "0000342229" "00004227" "90" "623" "0" "623" "0" "c.623dup" "r.(?)" "p.(Arg209AlafsTer11)" "" "0000342256" "00004227" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Ter)" "" "0000358188" "00004227" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "5" "0000500665" "00004227" "90" "800" "0" "801" "0" "c.800_801del" "r.800_801del" "p.Glu267Valfs*92" "6" "0000500666" "00004227" "90" "800" "0" "801" "0" "c.800_801del" "r.800_801del" "p.Glu267Valfs*92" "6" "0000500667" "00004227" "90" "370" "0" "370" "0" "c.370C>T" "r.370c>u" "p.Arg124Cys" "2" "0000500668" "00004227" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "4" "0000500669" "00004227" "90" "81" "0" "82" "0" "c.81_82insA" "r.(?)" "p.(Pro28Thrfs*4)" "1" "0000500670" "00004227" "90" "81" "0" "82" "0" "c.81_82insA" "r.(?)" "p.(Pro28Thrfs*4)" "1" "0000500671" "00004227" "90" "81" "0" "82" "0" "c.81_82insA" "r.(?)" "p.(Pro28Thrfs*4)" "1" "0000500672" "00004227" "90" "81" "0" "82" "0" "c.81_82insA" "r.(?)" "p.(Pro28Thrfs*4)" "1" "0000500674" "00004227" "90" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Arg52*)" "1" "0000545371" "00004227" "30" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Asn72His)" "" "0000545372" "00004227" "30" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" "" "0000545373" "00004227" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Ser96=)" "" "0000545374" "00004227" "50" "367" "-45" "367" "-45" "c.367-45G>A" "r.(=)" "p.(=)" "" "0000545376" "00004227" "30" "651" "8" "651" "8" "c.651+8G>A" "r.(=)" "p.(=)" "" "0000545377" "00004227" "50" "651" "15" "651" "15" "c.651+15G>A" "r.(=)" "p.(=)" "" "0000545378" "00004227" "70" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Glu267ValfsTer92)" "" "0000648359" "00004227" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000648360" "00004227" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "" "0000648361" "00004227" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "" "0000679305" "00004227" "50" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Gly183Arg)" "" "0000679306" "00004227" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Ter)" "" "0000685056" "00004227" "90" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Arg253*)" "" "0000691151" "00004227" "50" "-3433" "0" "-3433" "0" "c.-3433G>A" "r.(?)" "p.(=)" "" "0000691152" "00004227" "50" "-3089" "0" "-3089" "0" "c.-3089G>T" "r.(?)" "p.(=)" "" "0000691153" "00004227" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Ter)" "" "0000713405" "00004227" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "" "0000714020" "00004227" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "" "0000723651" "00004227" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000723652" "00004227" "30" "367" "-45" "367" "-45" "c.367-45G>A" "r.(=)" "p.(=)" "" "0000733232" "00004227" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49*)" "" "0000733649" "00004227" "70" "366" "1" "366" "1" "c.366+1G>T" "r.spl" "p.?" "" "0000735595" "00004227" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "" "0000735720" "00004227" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "" "0000759853" "00004227" "70" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Arg118Ter)" "" "0000759881" "00004227" "70" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Gly155Asp)" "" "0000790281" "00004227" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "3" "0000790282" "00004227" "90" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Glu267Valfs*92)" "6" "0000792030" "00004227" "50" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "5" "0000794959" "00004227" "50" "81" "0" "82" "0" "c.81_82insA" "r.(?)" "p.(Pro28Thrfs*4)" "1" "0000794960" "00004227" "50" "81" "0" "82" "0" "c.81_82insA" "r.(?)" "p.(Pro28Thrfs*4)" "1" "0000796340" "00004227" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "5" "0000797548" "00004227" "70" "773" "0" "773" "0" "c.773A>T" "r.(?)" "p.(Asn258Ile)" "" "0000797549" "00004227" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "" "0000797550" "00004227" "70" "773" "0" "773" "0" "c.773A>T" "r.(?)" "p.(Asn258Ile)" "" "0000797953" "00004227" "50" "773" "0" "773" "0" "c.773A>T" "r.(?)" "p.(Asn258Ile)" "" "0000797954" "00004227" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "" "0000805329" "00004227" "50" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Arg52Gln)" "" "0000805330" "00004227" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Ile213=)" "" "0000815487" "00004227" "50" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Gly183Arg)" "" "0000816293" "00004227" "50" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98*)" "" "0000819647" "00004227" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216*)" "" "0000820267" "00004227" "70" "273" "0" "273" "0" "c.273del" "r.(?)" "p.(Ser92Leufs*40)" "" "0000820268" "00004227" "70" "273" "0" "273" "0" "c.273del" "r.(?)" "p.(Ser92Leufs*40)" "" "0000820345" "00004227" "70" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Glu267Valfs*92)" "" "0000821173" "00004227" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "" "0000821468" "00004227" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000827003" "00004227" "70" "366" "1" "366" "1" "c.366+1G>T" "r.spl" "p.(?)" "" "0000853119" "00004227" "50" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Ile16Thr)" "" "0000862656" "00004227" "30" "799" "15" "799" "15" "c.799+15C>T" "r.(=)" "p.(=)" "" "0000872589" "00004227" "70" "81" "0" "82" "0" "c.81_82insA" "r.(?)" "p.(Pro28Thrfs*4)" "5" "0000872590" "00004227" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "5" "0000872591" "00004227" "70" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Ter)" "" "0000872592" "00004227" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Ter)" "" "0000890115" "00004227" "30" "69" "0" "69" "0" "c.69G>A" "r.(?)" "p.(Ala23=)" "" "0000890116" "00004227" "10" "652" "-11" "652" "-11" "c.652-11G>A" "r.(=)" "p.(=)" "" "0000913676" "00004227" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "" "0000933356" "00004227" "90" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Arg52*)" "" "0000958456" "00004227" "50" "651" "4" "651" "4" "c.651+4C>T" "r.spl?" "p.?" "" "0000958457" "00004227" "50" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Arg253Gln)" "" "0000958890" "00004227" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "" "0000959331" "00004227" "90" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Glu267ValfsTer92)" "" "0000986303" "00004227" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Ter)" "1" "0000986304" "00004227" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1" "0000987008" "00004227" "70" "415" "0" "415" "0" "c.415G>T" "r.(?)" "p.(Glu139Ter)" "" "0000987214" "00004227" "90" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Ter)" "" "0000999394" "00004227" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000156266" "0000358188" "0000247782" "0000500665" "0000247783" "0000500666" "0000247783" "0000500667" "0000247784" "0000500668" "0000247785" "0000500669" "0000247786" "0000500670" "0000247787" "0000500671" "0000247788" "0000500672" "0000247790" "0000500674" "0000291670" "0000648359" "0000291671" "0000648360" "0000291672" "0000648361" "0000310145" "0000685056" "0000329282" "0000713405" "0000329663" "0000714020" "0000335223" "0000733232" "0000335223" "0000733649" "0000336320" "0000735595" "0000336320" "0000735720" "0000360155" "0000759853" "0000360155" "0000759881" "0000377853" "0000790281" "0000377853" "0000790282" "0000379010" "0000792030" "0000381498" "0000794959" "0000381499" "0000794960" "0000382509" "0000796340" "0000383452" "0000797548" "0000383452" "0000797549" "0000383453" "0000797550" "0000383715" "0000797953" "0000383715" "0000797954" "0000387453" "0000815487" "0000388135" "0000816293" "0000390302" "0000819647" "0000390922" "0000820267" "0000390923" "0000820268" "0000391000" "0000820345" "0000391424" "0000821173" "0000391718" "0000821468" "0000395612" "0000827003" "0000414869" "0000872589" "0000414870" "0000872590" "0000414871" "0000872591" "0000414871" "0000872592" "0000437905" "0000933356" "0000448582" "0000958456" "0000448582" "0000958457" "0000449123" "0000958890" "0000449123" "0000959331" "0000452320" "0000986303" "0000452321" "0000986304" "0000452663" "0000987008" "0000452869" "0000987214"