### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIZ) # 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}}" "KIZ" "kizuna centrosomal protein" "20" "p11.23" "no" "NG_033122.1" "NG_033122.1" "" "http://www.LOVD.nl/KIZ" "" "1" "15865" "55857" "615757" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KIZ_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2013-05-03 00:00:00" "00006" "2016-06-19 10:54:19" "00006" "2025-04-07 13:47:05" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023947" "KIZ" "transcript variant 1" "001" "NM_018474.4" "" "NP_060944.3" "" "" "" "-133" "2068" "2022" "5001" "125638" "00001" "2014-06-11 12:47:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "02156" "-" "retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness" "" "300455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04084" "RP69" "retinitis pigmentosa, type 69 (RP69)" "AR" "615780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KIZ" "04084" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00016848" "" "" "" "1" "" "00705" "{PMID:El Shamieh 2014:24680887}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "M" "yes" "" "" "0" "" "" "Africa-N;Jewish-Sephardic" "" "00017031" "" "" "" "1" "" "00705" "{PMID:El Shamieh 2014:24680887}" "2-generation family, 1 affected, unaffected parents" "M" "yes" "Spain" "" "0" "" "" "Spanish" "" "00017032" "" "" "" "1" "" "00705" "{PMID:El Shamieh 2014:24680887}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "France" "" "0" "" "" "Italian" "" "00155490" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Turkey;Jewish" "" "00309212" "" "" "" "6" "" "00004" "{PMID:Sharon 2019:31456290}" "6 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00327517" "" "" "00327515" "2" "" "00006" "{PMID:Gustafson 2017:28837078}" "2 sisters" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "FamPatII1/3" "00380225" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GS_0046" "00386172" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-284" "00387053" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "79" "00387054" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "80" "00387055" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "81" "00389976" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1054, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1260" "00391388" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "56" "00409853" "" "" "" "1" "" "00000" "{PMID:Zhao 2019:31556760}" "" "F" "" "United States" "" "0" "" "Intraretinal cystoid changes were managed with dorzolamide 2% ophthalmic solution 1 drop twice daily initially, which was then increased to three times daily when the cysts worsened on subsequent follow-ups" "Ashkenazi Jewish" "III:2" "00409855" "" "" "" "1" "" "00000" "{PMID:Lin 2020:32052671}" "" "M" "" "" "" "0" "" "" "" "A-II:2" "00409856" "" "" "" "1" "" "00000" "{PMID:Lin 2020:32052671}" "" "M" "" "" "" "0" "" "" "" "B-II:1" "00409857" "" "" "" "1" "" "00000" "{PMID:Lin 2020:32052671}" "" "M" "" "" "" "0" "" "" "" "C-II:1" "00409858" "" "" "" "1" "" "00000" "{PMID:Lin 2020:32052671}" "" "M" "" "" "" "0" "" "" "" "D-II:5" "00430059" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00436431" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "likely" "Mexico" "" "" "" "none" "Hispanic" "2847955" "00436443" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "no" "Mexico" "" "" "" "none" "Hispanic" "2695000" "00436444" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "none" "Hispanic" "2701134" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00016848" "00058" "00017031" "00058" "00017032" "00058" "00155490" "04214" "00309212" "04214" "00327517" "04214" "00380225" "00112" "00386172" "04214" "00387053" "04214" "00387054" "04214" "00387055" "04214" "00389976" "04214" "00391388" "04214" "00409853" "04214" "00409855" "04214" "00409856" "04214" "00409857" "04214" "00409858" "04214" "00430059" "00112" "00436431" "02156" "00436443" "02156" "00436444" "02156" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00112, 02156, 04084, 04214 ## Count = 22 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000053519" "00058" "00016848" "00705" "Familial, autosomal recessive" "50y" "RCD diagnosed in late teens; 35y-night blindness followed by changes in midperipheral visual fields/undetectable responses in full-field electroretinogram by approximately; 50y-overweight, complained of moderate hearing difficulties; best-corrected visual acuity 20/800 (R), 20/640 (L); kinetic visual-field test revealed decreased central retinal sensitivity, bilateral peripheral-field constriction; typical RCD fundus changeswith additional macular thinning" "" "" "" "" "" "" "" "" "" "0000053520" "00058" "00017031" "00705" "Familial, autosomal recessive" "34y" "BCVA 20/20 both eyes; annular scotoma in the midperiphery; preservation of the peripheral isopter; Typical RCD fundus changes with macular preservation." "" "" "" "" "" "" "" "" "" "0000053521" "00058" "00017032" "00705" "Familial, autosomal recessive" "51y" "Well tolerated congenital ichthyosis; BCVA was 20/40 right eye; 20/32 left; A binocular kinetic visual field was reduced to the central 10 with bitemporal islands of perception peripherally. Typical RCD Fundus changes with relative macular preservation" "" "" "" "" "" "" "" "" "" "0000127990" "04214" "00155490" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000234532" "04214" "00309212" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000245797" "04214" "00327517" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000274077" "00112" "00380225" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0000662,\tHP:0000613,\tHP:0001133,\tHP:0001483,\tHP:0000007,\tHP:0000510" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "0000279975" "04214" "00386172" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "0000280831" "04214" "00387053" "00000" "Familial, autosomal recessive" "56y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal recessive" "" "0000280832" "04214" "00387054" "00000" "Familial, autosomal recessive" "60y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal recessive" "" "0000280833" "04214" "00387055" "00000" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal recessive" "" "0000283517" "04214" "00389976" "00000" "Isolated (sporadic)" "40y" "age at genetic diagnosis mentioned" "" "39y" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "0000284828" "04214" "00391388" "00000" "Unknown" "" "diagnosis unsure" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000301969" "04214" "00409853" "00000" "Familial, autosomal recessive" "32y" "nyctalopia with difficulty navigating in dimly lit environments since teenage years; in early twenties, central vision loss followed by progressive peripheral field loss and light-sensitivity; medical history: nonspecific dysautonomia, with episodes of lightheadedness, tachycardia, and diaphoresis, for which evaluations with cardiology and neurology were unrevealing of an underlying etiology; older brother diagnosed with rod-cone dystrophy 3y; deceased paternal grandfather night-blind; best-corrected visual acuity: 20/30 both eyes with moderate myopic astigmatism; normal color vision tested using the Ishihara plates; anterior segment: normal; ophthalmoscopy: macular pigment mottling, mild peripapillary atrophy and hypopigmentation vessels that appeared to be of normal caliber, peripheral retina unremarkable; fundus autofluorescence: bull\'s eye-like ring of hyper-autofluorescence and patchy granular hypoautofluorescence of the mid-periphery; optical coherence tomography of the fovea: intraretinal cystoid chans with mild epiretinal membranes in both eyes, outer retinal loss of the ellipsoid zone and external limiting membrane with preserved subfoveal islands; Goldmann visual field testing: less than 10 degrees of central field using a V4e target, and an inferior arcuate island of peripheral field remaining in both eyes; electroretinogram: reduction in both scotopic and photopic responses" "" "" "night blindness" "" "" "" "" "retinitis pigmentosa" "" "0000301971" "04214" "00409855" "00000" "Familial, autosomal recessive" "62y" "57y: best corrected visual acuity (first visit) right, left eye: 20/40, 20/50; 62y: best corrected visual acuity (last visit) right, left eye: 20/30, 20/40; ellipsoid zone line length (um) right, left eye: 2013: 655, 703; 2015: 596, 625; 2016: 579, 615; 2017: 563, 613; 2018: 554, 580" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000301972" "04214" "00409856" "00000" "Familial, autosomal recessive" "60y" "57y: best corrected visual acuity (first visit) right, left eye: 20/30, 20/80; 60y: best corrected visual acuity (last visit) right, left eye: 20/60, 20/400; ellipsoid zone line length (um) right, left eye: 2015: 1332, 1452; 2016: 921, 1362; 2017: 606, 1143; 2018: 528, 1023" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000301973" "04214" "00409857" "00000" "Familial, autosomal recessive" "21y" "21y: best corrected visual acuity (first visit) right, left eye: 20/30, 20/25; 21y: best corrected visual acuity (last visit) right, left eye: not available" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000301974" "04214" "00409858" "00000" "Familial, autosomal recessive" "49y" "35y: best corrected visual acuity (first visit) right, left eye: 20/150, 20/150; 49y: best corrected visual acuity (last visit) right, left eye: hand movement, hand movemen; ellipsoid zone line length (um) right, left eye: 2011: 705, 615; 2018: 378, 393; 2019: 331, 319" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000320931" "00112" "00430059" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000326610" "02156" "00436431" "04552" "Familial, autosomal recessive" "51y" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "40y" "40y" "40y" "" "" "" "" "RP69" "Retinitis pigmentosa" "0000326622" "02156" "00436443" "04552" "Familial, autosomal recessive" "45y" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "40y" "40y" "40y" "" "" "" "" "RP69" "Retinitis pigmentosa" "0000326623" "02156" "00436444" "04552" "Familial, autosomal recessive" "35y" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "15y" "15y" "15y" "" "" "" "" "RP69" "Retinitis pigmentosa" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017009" "00016848" "1" "00705" "00705" "2014-06-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000017010" "00017031" "1" "00705" "00705" "2014-06-13 15:17:52" "" "" "SEQ" "DNA" "" "" "0000017011" "00017032" "1" "00705" "00705" "2014-06-13 15:32:59" "" "" "SEQ" "DNA" "" "" "0000156355" "00155490" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000310357" "00309212" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000328732" "00327517" "1" "00006" "00006" "2021-01-22 17:26:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381438" "00380225" "1" "03508" "03508" "2021-08-13 06:20:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000387401" "00386172" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388279" "00387053" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388280" "00387054" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388281" "00387055" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000391219" "00389976" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000392630" "00391388" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000411117" "00409853" "1" "00000" "03840" "2022-05-12 12:47:30" "" "" "SEQ-NG;SEQ" "DNA" "blood" "retinal dystrophy panel testing" "0000411119" "00409855" "1" "00000" "03840" "2022-05-12 13:46:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411120" "00409856" "1" "00000" "03840" "2022-05-12 13:46:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411121" "00409857" "1" "00000" "03840" "2022-05-12 13:46:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted capture sequencing of 280 retinal dystrophy-related genes" "0000411122" "00409858" "1" "00000" "03840" "2022-05-12 13:46:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000431472" "00430059" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000437915" "00436431" "1" "04552" "04552" "2023-09-15 20:12:30" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000437927" "00436443" "1" "04552" "04552" "2023-09-15 21:42:49" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000437928" "00436444" "1" "04552" "04552" "2023-09-15 21:47:44" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000017009" "KIZ" "0000017010" "KIZ" "0000017011" "KIZ" "0000156355" "KIZ" "0000310357" "KIZ" "0000387401" "KIZ" "0000388279" "KIZ" "0000388280" "KIZ" "0000388281" "KIZ" "0000391219" "KIZ" "0000392630" "CNGA3" "0000411117" "KIZ" "0000411119" "KIZ" "0000411120" "KIZ" "0000411121" "KIZ" "0000411122" "KIZ" "0000431472" "KIZ" "0000437915" "KIZ" "0000437927" "KIZ" "0000437928" "KIZ" ## 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 = 57 "{{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}}" "0000036968" "3" "70" "20" "21117104" "21117104" "subst" "0.000485765" "00705" "KIZ_000003" "g.21117104C>T" "" "{PMID:El Shamieh 2014:24680887}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21136463C>T" "" "likely pathogenic" "" "0000036969" "3" "70" "20" "21117104" "21117104" "subst" "0.000485765" "00705" "KIZ_000003" "g.21117104C>T" "" "{PMID:El Shamieh 2014:24680887}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21136463C>T" "" "likely pathogenic" "" "0000036970" "11" "70" "20" "21106808" "21106808" "subst" "0" "00705" "KIZ_000001" "g.21106808G>T" "" "{PMID:El Shamieh 2014:24680887}" "" "" "" "Germline" "yes" "" "0" "" "" "g.21126167G>T" "" "likely pathogenic" "" "0000036971" "2" "70" "20" "21112767" "21112770" "del" "2.05201E-5" "00705" "KIZ_000002" "g.21112767_21112770del" "" "{PMID:El Shamieh 2014:24680887}" "" "119_122delAACT" "" "Germline" "yes" "" "0" "" "" "g.21132126_21132129del" "" "likely pathogenic" "" "0000256479" "0" "50" "20" "21142611" "21142611" "subst" "0.000329282" "01943" "KIZ_000009" "g.21142611A>G" "" "" "" "KIZ(NM_018474.5):c.505A>G (p.S169G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21161970A>G" "" "VUS" "" "0000278597" "0" "10" "20" "21112810" "21112810" "subst" "4.60455E-5" "02330" "KIZ_000005" "g.21112810G>A" "" "" "" "KIZ(NM_018474.6):c.152+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21132169G>A" "" "benign" "" "0000278598" "0" "10" "20" "21224886" "21224886" "subst" "1.22165E-5" "02330" "KIZ_000020" "g.21224886T>C" "" "" "" "KIZ(NM_001163022.3):c.1574T>C (p.L525P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21244248T>C" "" "benign" "" "0000278599" "0" "10" "20" "21213397" "21213397" "subst" "0.00203022" "02330" "KIZ_000018" "g.21213397C>T" "" "" "" "KIZ(NM_018474.6):c.1809C>T (p.F603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21232759C>T" "" "benign" "" "0000278600" "0" "50" "20" "21227167" "21227167" "subst" "0.000252147" "02330" "KIZ_000023" "g.21227167C>T" "" "" "" "KIZ(NM_018474.5):c.1975C>T (p.R659C), KIZ(NM_018474.6):c.1975C>T (p.R659C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.21246529C>T" "" "VUS" "" "0000358277" "3" "90" "20" "21117104" "21117104" "subst" "0.000485765" "01243" "KIZ_000003" "g.21117104C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.21136463C>T" "" "pathogenic" "" "0000569184" "0" "10" "20" "21106804" "21106804" "subst" "0.00233421" "02330" "KIZ_000004" "g.21106804C>T" "" "" "" "KIZ(NM_018474.6):c.48C>T (p.Y16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21126163C>T" "" "benign" "" "0000569185" "0" "10" "20" "21112818" "21112818" "subst" "0" "02330" "KIZ_000006" "g.21112818G>A" "" "" "" "KIZ(NM_018474.6):c.152+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21132177G>A" "" "benign" "" "0000569186" "0" "30" "20" "21126247" "21126247" "subst" "0" "02330" "KIZ_000007" "g.21126247A>G" "" "" "" "KIZ(NM_018474.6):c.357A>G (p.K119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21145606A>G" "" "likely benign" "" "0000569187" "0" "30" "20" "21142523" "21142523" "subst" "6.53627E-5" "01943" "KIZ_000008" "g.21142523C>T" "" "" "" "KIZ(NM_018474.5):c.417C>T (p.H139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21161882C>T" "" "likely benign" "" "0000569188" "0" "10" "20" "21142998" "21142998" "subst" "0.00111772" "02330" "KIZ_000010" "g.21142998G>A" "" "" "" "KIZ(NM_018474.6):c.892G>A (p.G298R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21162357G>A" "" "benign" "" "0000569189" "0" "50" "20" "21143484" "21143484" "subst" "4.15728E-6" "02330" "KIZ_000011" "g.21143484C>G" "" "" "" "KIZ(NM_018474.6):c.1043-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21162843C>G" "" "VUS" "" "0000569190" "0" "50" "20" "21143779" "21143779" "subst" "0.00054145" "01943" "KIZ_000012" "g.21143779C>G" "" "" "" "KIZ(NM_018474.5):c.1331C>G (p.S444C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21163138C>G" "" "VUS" "" "0000569191" "0" "10" "20" "21143823" "21143823" "del" "0" "02330" "KIZ_000013" "g.21143823del" "" "" "" "KIZ(NM_018474.6):c.1352+23delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21163182del" "" "benign" "" "0000569192" "0" "10" "20" "21186160" "21186160" "subst" "0.134191" "02330" "KIZ_000014" "g.21186160G>A" "" "" "" "KIZ(NM_018474.6):c.1383G>A (p.P461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21205521G>A" "" "benign" "" "0000569194" "0" "50" "20" "21196268" "21196268" "subst" "0.000458231" "02330" "KIZ_000016" "g.21196268G>T" "" "" "" "KIZ(NM_018474.6):c.1660G>T (p.A554S), PLK1S1(NM_001163022.1):c.1350G>T (p.(Ala451Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21215630G>T" "" "VUS" "" "0000569195" "0" "30" "20" "21209715" "21209715" "subst" "0.000180294" "02330" "KIZ_000017" "g.21209715G>A" "" "" "" "KIZ(NM_018474.5):c.1745G>A (p.R582K), KIZ(NM_018474.6):c.1745G>A (p.R582K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21229077G>A" "" "likely benign" "" "0000569196" "0" "50" "20" "21209715" "21209715" "subst" "0.000180294" "01943" "KIZ_000017" "g.21209715G>A" "" "" "" "KIZ(NM_018474.5):c.1745G>A (p.R582K), KIZ(NM_018474.6):c.1745G>A (p.R582K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21229077G>A" "" "VUS" "" "0000569197" "0" "10" "20" "21213458" "21213458" "subst" "0.00211507" "02330" "KIZ_000019" "g.21213458C>T" "" "" "" "KIZ(NM_018474.6):c.1870C>T (p.P624S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21232820C>T" "" "benign" "" "0000569198" "0" "10" "20" "21224929" "21224929" "subst" "0.00159591" "02330" "KIZ_000021" "g.21224929G>A" "" "" "" "KIZ(NM_018474.6):c.1924+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21244291G>A" "" "benign" "" "0000569199" "0" "50" "20" "21227158" "21227158" "subst" "0" "01943" "KIZ_000022" "g.21227158G>A" "" "" "" "KIZ(NM_018474.5):c.1966G>A (p.A656T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21246520G>A" "" "VUS" "" "0000569200" "0" "30" "20" "21227167" "21227167" "subst" "0.000252147" "01943" "KIZ_000023" "g.21227167C>T" "" "" "" "KIZ(NM_018474.5):c.1975C>T (p.R659C), KIZ(NM_018474.6):c.1975C>T (p.R659C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21246529C>T" "" "likely benign" "" "0000618002" "0" "50" "20" "21143067" "21143067" "subst" "0.000395741" "01943" "KIZ_000025" "g.21143067T>C" "" "" "" "KIZ(NM_001352436.1):c.619T>C (p.S207P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21162426T>C" "" "VUS" "" "0000618003" "0" "30" "20" "21186163" "21186164" "ins" "0" "01804" "KIZ_000026" "g.21186163_21186164insA" "" "" "" "PLK1S1(NM_001163022.1):c.1077_1078insA (p.(His360ThrfsTer212))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21205525_21205526insA" "" "likely benign" "" "0000618004" "0" "30" "20" "21227190" "21227190" "subst" "2.44732E-5" "02330" "KIZ_000027" "g.21227190T>C" "" "" "" "KIZ(NM_001163022.3):c.1688T>C (p.V563A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21246552T>C" "" "likely benign" "" "0000624125" "0" "90" "20" "21126296" "21126296" "dup" "0" "01943" "KIZ_000024" "g.21126296dup" "" "" "" "KIZ(NM_001352436.1):c.64dupG (p.V22Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21145655dup" "" "pathogenic" "" "0000658723" "0" "50" "20" "21196268" "21196268" "subst" "0.000458231" "01804" "KIZ_000016" "g.21196268G>T" "" "" "" "KIZ(NM_018474.6):c.1660G>T (p.A554S), PLK1S1(NM_001163022.1):c.1350G>T (p.(Ala451Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.21215630G>T" "" "VUS" "" "0000685268" "0" "90" "20" "21117104" "21117104" "subst" "0.000485765" "00004" "KIZ_000003" "g.21117104C>T" "6/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000712759" "3" "90" "20" "21117104" "21117104" "subst" "0.000485765" "00006" "KIZ_000003" "g.21117104C>T" "" "{PMID:Gustafson 2017:28837078}" "" "" "" "Germline" "" "" "0" "" "" "g.21136463C>T" "" "VUS" "" "0000794896" "3" "70" "20" "21112789" "21112792" "del" "0" "03508" "KIZ_000028" "g.21112789_21112792del" "" "" "" "Pro48Leufs*27" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.21132148_21132151del" "" "pathogenic" "ACMG" "0000809174" "0" "50" "20" "21112766" "21112766" "subst" "0" "01943" "KIZ_000029" "g.21112766A>G" "" "" "" "KIZ(NM_018474.5):c.118A>G (p.K40E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815285" "0" "50" "20" "21209730" "21209730" "subst" "8.23086E-6" "00000" "KIZ_000030" "g.21209730A>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "KIZ:NM_001163022 c.1450A>T, p.D484V" "error in annotation: c.1451A>T and not c.1450A>T causes p.D484V; different transcript NM_001163022.2(KIZ):c.1451A>T, p.(Asp484Val), heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.21229092A>T" "" "VUS" "ACMG" "0000816739" "3" "70" "20" "21112767" "21112770" "del" "2.05201E-5" "00000" "KIZ_000002" "g.21112767_21112770del" "" "{PMID:Jauregui 2020:32098976}" "" "KIZ c.119_122delAACT, p.K40IfsX14" "homozygous" "Unknown" "?" "" "0" "" "" "g.21132126_21132129del" "" "likely pathogenic" "" "0000816740" "3" "70" "20" "21117104" "21117104" "subst" "0.000485765" "00000" "KIZ_000003" "g.21117104C>T" "" "{PMID:Jauregui 2020:32098976}" "" "KIZ c.226C>T, p.R76X" "homozygous" "Unknown" "?" "" "0" "" "" "g.21136463C>T" "" "likely pathogenic" "" "0000816741" "3" "70" "20" "21117104" "21117104" "subst" "0.000485765" "00000" "KIZ_000003" "g.21117104C>T" "" "{PMID:Jauregui 2020:32098976}" "" "KIZ c.226C>T, p.R76X" "homozygous" "Unknown" "?" "" "0" "" "" "g.21136463C>T" "" "likely pathogenic" "" "0000820564" "1" "70" "20" "21117129" "21117136" "del" "0" "00000" "KIZ_000031" "g.21117129_21117136del" "" "{PMID:Weisschuh 2020:32531858}" "" "KIZ, variant 1: c.251_258del/p.F84Cfs*23, variant 2: c.251_258del/p.F84Cfs*23" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.21136488_21136495del" "" "likely pathogenic" "" "0000822980" "0" "70" "20" "21142689" "21142689" "subst" "1.62768E-5" "00000" "KIZ_000032" "g.21142689C>T" "" "{PMID:Méjécase 2020:32783370}" "" "KIZ c.583C>T p.(Arg195*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.21162048C>T" "" "likely pathogenic" "" "0000855767" "0" "50" "20" "21126240" "21126240" "subst" "0" "01943" "KIZ_000033" "g.21126240G>A" "" "" "" "KIZ(NM_018474.5):c.350G>A (p.C117Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855768" "0" "10" "20" "21213361" "21213361" "subst" "0.00177237" "02330" "KIZ_000035" "g.21213361G>A" "" "" "" "KIZ(NM_018474.6):c.1784-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855769" "0" "50" "20" "21227123" "21227123" "subst" "0" "01943" "KIZ_000036" "g.21227123G>C" "" "" "" "KIZ(NM_001352436.1):c.1588G>C (p.G530R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866395" "0" "90" "20" "21117104" "21117104" "subst" "0.000485765" "01943" "KIZ_000003" "g.21117104C>T" "" "" "" "KIZ(NM_018474.5):c.226C>T (p.R76*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866396" "0" "10" "20" "21195214" "21195214" "subst" "0.00150909" "02330" "KIZ_000034" "g.21195214C>T" "" "" "" "KIZ(NM_018474.6):c.1488C>T (p.G496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000868143" "3" "70" "20" "21117104" "21117104" "subst" "0.000485765" "00000" "KIZ_000003" "g.21117104C>T" "" "{PMID:Zhao 2019:31556760}" "" "KIZ c.226 C > T, (p.Arg76*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.21136463C>T" "" "likely pathogenic" "" "0000868145" "3" "90" "20" "21117104" "21117104" "subst" "0.000485765" "00000" "KIZ_000003" "g.21117104C>T" "0" "{PMID:Lin 2020:32052671}" "" "KIZ c.226C>T, p.Arg76Ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.21136463C>T" "" "pathogenic" "" "0000868146" "3" "90" "20" "21112767" "21112770" "del" "2.05201E-5" "00000" "KIZ_000002" "g.21112767_21112770del" "0" "{PMID:Lin 2020:32052671}" "" "KIZ c.119_122delAACT, p.Lys40llefsTer14" "homozygous" "Germline" "yes" "" "0" "" "" "g.21132126_21132129del" "" "pathogenic" "" "0000868147" "3" "90" "20" "21117104" "21117104" "subst" "0.000485765" "00000" "KIZ_000003" "g.21117104C>T" "0" "{PMID:Lin 2020:32052671}" "" "KIZ c.226C>T, p.Arg76Ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.21136463C>T" "" "pathogenic" "" "0000868148" "3" "90" "20" "21117104" "21117104" "subst" "0.000485765" "00000" "KIZ_000003" "g.21117104C>T" "0" "{PMID:Lin 2020:32052671}" "" "KIZ c.226C>T, p.Arg76Ter" "homozygous" "Germline" "yes" "" "0" "" "" "g.21136463C>T" "" "pathogenic" "" "0000915346" "0" "30" "20" "21209771" "21209771" "subst" "0.000139504" "02330" "KIZ_000037" "g.21209771G>A" "" "" "" "KIZ(NM_001352436.2):c.1440+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000916646" "3" "90" "20" "21117104" "21117104" "subst" "0.000485765" "04436" "KIZ_000003" "g.21117104C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.226C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000933373" "3" "90" "20" "21117104" "21117104" "subst" "0.000485765" "04552" "KIZ_000003" "g.21117104C>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs202210819" "0" "" "" "" "{CV:1412948}" "pathogenic" "ACMG" "0000933393" "3" "90" "20" "21196223" "21196223" "subst" "0" "04552" "KIZ_000038" "g.21196223T>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs750369135" "0" "" "" "" "{CV:7879}" "likely pathogenic" "ACMG" "0000933394" "3" "90" "20" "21196223" "21196223" "subst" "0" "04552" "KIZ_000038" "g.21196223T>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs750369135" "0" "" "" "" "{CV:2355}" "likely pathogenic" "ACMG" "0000970090" "0" "10" "20" "21106716" "21106716" "dup" "0" "02329" "KIZ_000039" "g.21106716dup" "" "" "" "KIZ(NM_018474.6):c.-41dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 KIZ ## Count = 57 "{{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}}" "0000036968" "00023947" "70" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "3" "0000036969" "00023947" "70" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "3" "0000036970" "00023947" "70" "52" "0" "52" "0" "c.52G>T" "r.(?)" "p.(Glu18*)" "1" "0000036971" "00023947" "70" "119" "0" "122" "0" "c.119_122del" "r.(?)" "p.(Lys40Ilefs*14)" "2" "0000256479" "00023947" "50" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "0000278597" "00023947" "10" "152" "10" "152" "10" "c.152+10G>A" "r.(=)" "p.(=)" "" "0000278598" "00023947" "10" "1884" "0" "1884" "0" "c.1884T>C" "r.(?)" "p.(His628=)" "" "0000278599" "00023947" "10" "1809" "0" "1809" "0" "c.1809C>T" "r.(?)" "p.(Phe603=)" "" "0000278600" "00023947" "50" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659Cys)" "" "0000358277" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "3" "0000569184" "00023947" "10" "48" "0" "48" "0" "c.48C>T" "r.(?)" "p.(Tyr16=)" "" "0000569185" "00023947" "10" "152" "18" "152" "18" "c.152+18G>A" "r.(=)" "p.(=)" "" "0000569186" "00023947" "30" "357" "0" "357" "0" "c.357A>G" "r.(?)" "p.(Lys119=)" "" "0000569187" "00023947" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(His139=)" "" "0000569188" "00023947" "10" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Arg)" "" "0000569189" "00023947" "50" "1043" "-7" "1043" "-7" "c.1043-7C>G" "r.(=)" "p.(=)" "" "0000569190" "00023947" "50" "1331" "0" "1331" "0" "c.1331C>G" "r.(?)" "p.(Ser444Cys)" "" "0000569191" "00023947" "10" "1352" "23" "1352" "23" "c.1352+23del" "r.(=)" "p.(=)" "" "0000569192" "00023947" "10" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Pro461=)" "" "0000569194" "00023947" "50" "1660" "0" "1660" "0" "c.1660G>T" "r.(?)" "p.(Ala554Ser)" "" "0000569195" "00023947" "30" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Arg582Lys)" "" "0000569196" "00023947" "50" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Arg582Lys)" "" "0000569197" "00023947" "10" "1870" "0" "1870" "0" "c.1870C>T" "r.(?)" "p.(Pro624Ser)" "" "0000569198" "00023947" "10" "1924" "3" "1924" "3" "c.1924+3G>A" "r.spl?" "p.?" "" "0000569199" "00023947" "50" "1966" "0" "1966" "0" "c.1966G>A" "r.(?)" "p.(Ala656Thr)" "" "0000569200" "00023947" "30" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659Cys)" "" "0000618002" "00023947" "50" "961" "0" "961" "0" "c.961T>C" "r.(?)" "p.(Ser321Pro)" "" "0000618003" "00023947" "30" "1387" "0" "1388" "0" "c.1387_1388insA" "r.(?)" "p.(Ala463AspfsTer14)" "" "0000618004" "00023947" "30" "1998" "0" "1998" "0" "c.1998T>C" "r.(?)" "p.(Asp666=)" "" "0000624125" "00023947" "90" "405" "1" "405" "1" "c.405+1dup" "r.spl?" "p.?" "" "0000658723" "00023947" "50" "1660" "0" "1660" "0" "c.1660G>T" "r.(?)" "p.(Ala554Ser)" "" "0000685268" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000712759" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000794896" "00023947" "70" "141" "0" "144" "0" "c.141_144del" "r.(?)" "p.(Asp48Hisfs*6)" "" "0000809174" "00023947" "50" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Lys40Glu)" "" "0000815285" "00023947" "50" "1760" "0" "1760" "0" "c.1760A>T" "r.(?)" "p.(Asp587Val)" "" "0000816739" "00023947" "70" "119" "0" "122" "0" "c.119_122del" "r.(?)" "p.(Lys40Ilefs*14)" "" "0000816740" "00023947" "70" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000816741" "00023947" "70" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000820564" "00023947" "70" "251" "0" "258" "0" "c.251_258del" "r.(?)" "p.(Phe84Cysfs*23)" "" "0000822980" "00023947" "70" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195*)" "" "0000855767" "00023947" "50" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Cys117Tyr)" "" "0000855768" "00023947" "10" "1784" "-11" "1784" "-11" "c.1784-11G>A" "r.(=)" "p.(=)" "" "0000855769" "00023947" "50" "1931" "0" "1931" "0" "c.1931G>C" "r.(?)" "p.(Trp644Ser)" "" "0000866395" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000866396" "00023947" "10" "1488" "0" "1488" "0" "c.1488C>T" "r.(?)" "p.(Gly496=)" "" "0000868143" "00023947" "70" "226" "0" "226" "0" "c.226C>T" "r.(?)" "(p.Arg76*)" "" "0000868145" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000868146" "00023947" "90" "119" "0" "122" "0" "c.119_122delAACT" "r.(?)" "p.(Lys40Ilefs*14)" "" "0000868147" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000868148" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000915346" "00023947" "30" "1783" "18" "1783" "18" "c.1783+18G>A" "r.(=)" "p.(=)" "" "0000916646" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76Ter)" "3" "0000933373" "00023947" "90" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76*)" "" "0000933393" "00023947" "90" "1612" "2" "1612" "2" "c.1612+2T>G" "r.spl" "p.?" "" "0000933394" "00023947" "90" "1612" "2" "1612" "2" "c.1612+2T>G" "r.spl" "p.?" "" "0000970090" "00023947" "10" "-41" "0" "-41" "0" "c.-41dup" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000017009" "0000036968" "0000017010" "0000036969" "0000017011" "0000036970" "0000017011" "0000036971" "0000156355" "0000358277" "0000310357" "0000685268" "0000328732" "0000712759" "0000381438" "0000794896" "0000387401" "0000815285" "0000388279" "0000816739" "0000388280" "0000816740" "0000388281" "0000816741" "0000391219" "0000820564" "0000392630" "0000822980" "0000411117" "0000868143" "0000411119" "0000868145" "0000411120" "0000868146" "0000411121" "0000868147" "0000411122" "0000868148" "0000431472" "0000916646" "0000437915" "0000933373" "0000437927" "0000933393" "0000437928" "0000933394"