### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C12orf29)
# 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}}"
"C12orf29" "chromosome 12 open reading frame 29" "12" "q21.32" "unknown" "NC_000012.11" "UD_132610729628" "" "https://www.LOVD.nl/RLIG1" "" "1" "25322" "91298" "0" "1" "1" "1" "1" "NOTE: gene name changed from C12orf29 to RLIG1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C12orf29 to RLIG1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-20 16:04:05" "00000" "2025-07-08 13:22:38"
## 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}}"
"00003986" "C12orf29" "chromosome 12 open reading frame 29" "001" "NM_001009894.2" "" "NP_001009894.2" "" "" "" "-158" "2716" "978" "88429268" "88443937" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 14
"{{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}}"
"00385044" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19748"
"00387418" "" "" "" "1" "" "00000" "{PMID:Devi 2020:32139166}" "Family 8" "?" "" "India" "" "0" "" "" "" "8"
"00388578" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.087"
"00389041" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 106, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "325"
"00395771" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F263"
"00397439" "" "" "" "1" "" "00000" "{PMID:Sayer 2006:16682973}" "Family A197, patient II-1" "" "no" "Denmark" "" "0" "" "" "" "A197 (II-1)"
"00397476" "" "" "" "1" "" "00000" "{PMID:Den Hollander 2006:16909394}" "" "" "" "Germany" "" "0" "" "" "" "14964"
"00397648" "" "" "" "1" "" "00000" "{PMID:Brancati 2007:17564967}" "" "M" "no" "Laos" "" "0" "" "" "" "MTI111a"
"00397649" "" "" "" "1" "" "00000" "{PMID:Brancati 2007:17564967}" "" "F" "no" "Laos" "" "0" "" "" "" "MTI111b"
"00397684" "" "" "" "1" "" "00000" "{PMID:Molin 2013:23954617}" "" "F" "" "" "" "0" "" "" "" "1"
"00397690" "" "" "" "1" "" "00000" "{PMID:Wang 2015:24850569}" "proband" "M" "" "China" "" "0" "" "" "" "1"
"00398226" "" "" "" "1" "" "00000" "{PMID:Feldhaus 2020:31734136}" "" "M" "" "" "" "0" "" "" "" "CEP290_14"
"00407603" "" "" "" "1" "" "00000" "{PMID:Cideciyan 2011:21245082}" "" "F" "" "" "" "0" "" "" "" "P12"
"00420557" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F263"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 14
"{{individualid}}" "{{diseaseid}}"
"00385044" "04214"
"00387418" "05109"
"00388578" "04214"
"00389041" "04214"
"00395771" "04214"
"00397439" "04214"
"00397476" "04214"
"00397648" "04214"
"00397649" "04214"
"00397684" "04214"
"00397690" "04214"
"00398226" "04214"
"00407603" "04214"
"00420557" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04214, 05109
## Count = 14
"{{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}}"
"0000278828" "04214" "00385044" "00000" "Isolated (sporadic)" "13y" "nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.3/0.3" "1y" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis"
"0000280981" "05109" "00387418" "00000" "Familial, autosomal recessive" "" "Pure type" "" "" "" "" "" "" "" "" "Joubert syndrome"
"0000282118" "04214" "00388578" "00000" "Familial, autosomal recessive" "" "Non‐syndrom" "" "3m" "" "" "" "" "" "Leber congenital amaurosis type 10" "Nystagmus and visual deficit"
"0000282582" "04214" "00389041" "00000" "Familial, autosomal recessive" "37y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000288933" "04214" "00395771" "00000" "Unknown" "1y7m" "" "1y" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000290573" "04214" "00397439" "00000" "Familial, autosomal recessive" "9y" "congenital amaurosis , retinal coloboma, early-onset tapetoretinal degeneration, cerebellar vermis aplasia/hypoplasia, ataxia, mental retardation or psychomotor retardation" "" "" "normal kidney at age 9" "" "" "" "" "Joubert syndrome" ""
"0000290609" "04214" "00397476" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000290772" "04214" "00397648" "00000" "Familial, autosomal recessive" "13y" "eye phenotype characteristic of Leber congenital amaurosis, nephronophthisis" "" "" "" "" "" "" "" "Senior-Loken syndrome" ""
"0000290773" "04214" "00397649" "00000" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "Senior-Loken syndrome" ""
"0000290811" "04214" "00397684" "00000" "Familial, autosomal recessive" "" "aborted spontaneously at 21.5 weeks of gestation; fetal pathological examination: eutrophic female fetus with facial dysmorphism (slight hypertelorism and dolichocephaly) and a small occipital meningoencephalocele; bilateral renal cysts characteristic of MKS at histology and mild hepatic ductal dysplasia; occipital meningoencephalocele and hydrocephalus in association with extreme cerebellar vermis hypoplasia and brainstem anomalies (“molar tooth” appearance of the cerebral and superior cerebellar peduncles, fragmented dentate nucleus, asymmetric anomalies of corticospinal tracts, hypoplastic inferior oli" "" "" "" "" "" "" "" "Meckel syndrome" ""
"0000290817" "04214" "00397690" "00000" "Familial, autosomal recessive" "10y" "abnormal eye movements on both eyes; delayed development of gross and fine motor skills; age of 3 could not walk for a long distance without any support; autonomic nervous system: no problems with urination and defecation, but cannot finish independently; at 9 years of age, magnetic resonance imaging of the brain revealed classical molar tooth sign clinically: horizontal thickening and elongation of the superior cerebellar peduncles; delayed development of speech was also noticed. Doctors cannot understand his words without translation; lower cognitive abilities for his age; clinical symptoms worsened progressively" "10m" "" "" "" "" "" "" "Joubert syndrome" ""
"0000291337" "04214" "00398226" "00000" "Familial, autosomal recessive" "32y" "best-corrected visual acuity right/left eye: 0.5/0.8, electroretinogram extinguished, nystagmus, no cataract, strabismus, no keratoconus, no oculodigital sign" "<3y" "" "" "" "" "" "" "early-onset severe retinal dystrophy" ""
"0000299768" "04214" "00407603" "00000" "Familial, autosomal recessive" "27y" "best corrected visual acuity right/left eye: 20/800/20/800, refraction:+3/+3, kinetic visual field extent (V-4e) right/left eye: <1/<1, electroretinogram: not detectable, loss of full-field sensitivity compared with normal in log units and type of photoreceptor mediation: cone; 24" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000311805" "04214" "00420557" "00000" "Familial, autosomal recessive" "1y7m" "" "1y" "" "" "" "" "" "" "Leber congenital amaurosis" ""
## Screenings ## Do not remove or alter this header ##
## Count = 14
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000386273" "00385044" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing"
"0000388644" "00387418" "1" "00000" "03840" "2021-10-29 11:08:31" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing"
"0000389820" "00388578" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000390284" "00389041" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper"
"0000397010" "00395771" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000398677" "00397439" "1" "00000" "03840" "2021-12-21 17:42:30" "" "" "SEQ;arraySNP" "DNA" "blood" ""
"0000398715" "00397476" "1" "00000" "03840" "2021-12-22 11:31:29" "" "" "SEQ" "DNA" "blood" ""
"0000398886" "00397648" "1" "00000" "03840" "2021-12-27 14:14:17" "" "" "SEQ" "DNA" "blood" ""
"0000398887" "00397649" "1" "00000" "03840" "2021-12-27 14:14:17" "" "" "SEQ" "DNA" "blood" ""
"0000398925" "00397684" "1" "00000" "03840" "2021-12-28 12:28:31" "" "" "SEQ;FISH;arrayCGH" "DNA" "blood" ""
"0000398932" "00397690" "1" "00000" "03840" "2021-12-28 18:38:20" "" "" "SEQ-NG" "DNA" "blood" "targeted next generation sequenicng of 18 genes"
"0000399470" "00398226" "1" "00000" "03840" "2022-01-01 19:27:57" "" "" "SEQ-NG;SEQ" "DNA" "blood" "11 patients were screened using a diagnostic targeted next-generation sequencing panel for IRDs, 1 using Asper LCA chip technology, 11 - Sanger sequenced CEP290 and/or specific sequencing for c.2991+1655A>G, and 1 patient by targeted IRD panel analysis"
"0000408851" "00407603" "1" "00000" "03840" "2022-04-06 20:53:36" "" "" "?" "DNA" "" ""
"0000421866" "00420557" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}" "{{geneid}}"
"0000386273" "CEP290"
"0000388644" "CEP290"
"0000389820" "CEP290"
"0000390284" "CEP290"
"0000397010" "CEP290"
"0000398677" "CEP290"
"0000398715" "CEP290"
"0000398886" "CEP290"
"0000398887" "CEP290"
"0000398925" "CEP290"
"0000398932" "CEP290"
"0000399470" "CEP290"
"0000408851" "CEP290"
"0000421866" "CEP290"
## 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 = 414
"{{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}}"
"0000247088" "0" "10" "12" "88532979" "88532979" "subst" "0.00165421" "02330" "CEP290_000246" "g.88532979A>T" "" "" "" "CEP290(NM_025114.4):c.251-11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88139202A>T" "" "benign" ""
"0000247122" "0" "10" "12" "88530477" "88530477" "subst" "0.00049985" "02330" "CEP290_000242" "g.88530477A>G" "" "" "" "CEP290(NM_025114.4):c.384T>C (p.D128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88136700A>G" "" "benign" ""
"0000250500" "0" "70" "12" "88449417" "88449417" "del" "0" "02329" "CEP290_000167" "g.88449417del" "" "" "" "CEP290(NM_025114.4):c.6897delT (p.V2300*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88055640del" "" "likely pathogenic" ""
"0000250986" "0" "10" "12" "88532979" "88532979" "subst" "0.00165421" "02326" "CEP290_000246" "g.88532979A>T" "" "" "" "CEP290(NM_025114.4):c.251-11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88139202A>T" "" "benign" ""
"0000251062" "0" "10" "12" "88512318" "88512318" "subst" "0" "02326" "CEP290_000214" "g.88512318A>C" "" "" "" "CEP290(NM_025114.4):c.1653T>G (p.D551E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118541A>C" "" "benign" ""
"0000251076" "0" "10" "12" "88512485" "88512485" "subst" "0.00148363" "02326" "CEP290_000216" "g.88512485A>G" "" "" "" "CEP290(NM_025114.3):c.1558T>C (p.(Phe520Leu)), CEP290(NM_025114.4):c.1558T>C (p.F520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118708A>G" "" "benign" ""
"0000251117" "0" "10" "12" "88500552" "88500552" "subst" "0.010788" "02326" "CEP290_000050" "g.88500552A>C" "" "" "" "CEP290(NM_025114.4):c.2717T>G (p.L906W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88106775A>C" "" "benign" ""
"0000251520" "0" "10" "12" "88471199" "88471199" "subst" "0" "02326" "CEP290_000184" "g.88471199A>G" "" "" "" "CEP290(NM_025114.4):c.5587-78T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88077422A>G" "" "benign" ""
"0000251521" "0" "10" "12" "88482790" "88482790" "del" "0" "02326" "CEP290_000192" "g.88482790del" "" "" "" "CEP290(NM_025114.4):c.4029+29delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88089013del" "" "benign" ""
"0000251522" "0" "10" "12" "88505426" "88505426" "subst" "0.00736655" "02326" "CEP290_000121" "g.88505426A>G" "" "" "" "CEP290(NM_025114.4):c.2217+45T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111649A>G" "" "benign" ""
"0000251523" "0" "10" "12" "88508171" "88508171" "del" "0" "02326" "CEP290_000118" "g.88508171del" "" "" "" "CEP290(NM_025114.4):c.2052+30delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88114394del" "" "benign" ""
"0000251524" "0" "10" "12" "88510771" "88510771" "del" "0" "02326" "CEP290_000209" "g.88510771del" "" "" "" "CEP290(NM_025114.4):c.1824+59delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88116994del" "" "benign" ""
"0000251525" "0" "10" "12" "88512352" "88512352" "subst" "0.00187028" "02326" "CEP290_000215" "g.88512352A>G" "" "" "" "CEP290(NM_025114.4):c.1624-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118575A>G" "" "benign" ""
"0000251526" "0" "10" "12" "88525017" "88525017" "del" "0" "02326" "CEP290_000239" "g.88525017del" "" "" "" "CEP290(NM_025114.4):c.442-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88131240del" "" "benign" ""
"0000251692" "0" "30" "12" "88454728" "88454728" "subst" "0.00746961" "02326" "CEP290_000175" "g.88454728A>G" "" "" "" "CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88060951A>G" "" "likely benign" ""
"0000253464" "0" "10" "12" "88505633" "88505633" "subst" "0.138346" "01943" "CEP290_000041" "g.88505633A>G" "" "" "" "CEP290(NM_025114.3):c.2055T>C (p.A685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111856A>G" "" "benign" ""
"0000253859" "0" "10" "12" "88483280" "88483280" "del" "0" "01943" "CEP290_000268" "g.88483280del" "" "" "" "CEP290(NM_025114.3):c.3574-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88089503del" "" "benign" ""
"0000253860" "0" "10" "12" "88525014" "88525014" "subst" "0" "01943" "CEP290_000240" "g.88525014A>T" "" "" "" "CEP290(NM_025114.3):c.442-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88131237A>T" "" "benign" ""
"0000254241" "0" "30" "12" "88483184" "88483184" "subst" "0.00151739" "01943" "CEP290_000193" "g.88483184A>G" "" "" "" "CEP290(NM_025114.3):c.3654T>C (p.L1218=), CEP290(NM_025114.4):c.3654T>C (p.L1218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88089407A>G" "" "likely benign" ""
"0000254689" "0" "30" "12" "88512494" "88512494" "subst" "4.08067E-6" "01943" "CEP290_000217" "g.88512494A>G" "" "" "" "CEP290(NM_025114.3):c.1549T>C (p.L517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118717A>G" "" "likely benign" ""
"0000255278" "0" "30" "12" "88514057" "88514057" "subst" "0.00033169" "01943" "CEP290_000223" "g.88514057A>C" "" "" "" "CEP290(NM_025114.3):c.1360-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120280A>C" "" "likely benign" ""
"0000256234" "0" "50" "12" "88443080" "88443080" "subst" "0" "01943" "CEP290_000159" "g.88443080A>C" "" "" "" "CEP290(NM_025114.3):c.7321T>G (p.L2441V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88049303A>C" "" "VUS" ""
"0000256711" "0" "50" "12" "88486616" "88486616" "subst" "3.3384E-5" "01943" "CEP290_000293" "g.88486616A>C" "" "" "" "CEP290(NM_025114.3):c.3310-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88092839A>C" "" "VUS" ""
"0000264539" "0" "10" "12" "88535104" "88535104" "subst" "8.69308E-5" "02330" "CEP290_000250" "g.88535104C>T" "" "" "" "CEP290(NM_025114.4):c.-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88141327C>T" "" "benign" ""
"0000264540" "0" "50" "12" "88514010" "88514010" "subst" "0" "02330" "CEP290_000221" "g.88514010C>T" "" "" "" "CEP290(NM_025114.4):c.1403G>A (p.C468Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120233C>T" "" "VUS" ""
"0000264541" "0" "10" "12" "88513885" "88513885" "subst" "0.00086176" "02330" "CEP290_000218" "g.88513885G>A" "" "" "" "CEP290(NM_025114.3):c.1522+6C>T (p.(=)), CEP290(NM_025114.4):c.1522+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120108G>A" "" "benign" ""
"0000264542" "0" "90" "12" "88494960" "88494960" "subst" "0" "02330" "CEP290_000002" "g.88494960T>C" "" "" "" "CEP290(NM_025114.4):c.2991+1655A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88101183T>C" "" "pathogenic" ""
"0000264543" "0" "30" "12" "88490769" "88490769" "subst" "0" "02330" "CEP290_000195" "g.88490769T>C" "" "" "" "CEP290(NM_025114.4):c.2999A>G (p.N1000S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88096992T>C" "" "likely benign" ""
"0000264545" "0" "50" "12" "88479893" "88479893" "subst" "2.84655E-5" "02330" "CEP290_000290" "g.88479893C>T" "" "" "" "CEP290(NM_025114.4):c.4360G>A (p.E1454K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88086116C>T" "" "VUS" ""
"0000264547" "0" "10" "12" "88478636" "88478636" "subst" "2.84184E-5" "02330" "CEP290_000288" "g.88478636T>C" "" "" "" "CEP290(NM_025114.3):c.4438-7A>G (p.(=)), CEP290(NM_025114.4):c.4438-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88084859T>C" "" "benign" ""
"0000264548" "0" "10" "12" "88478591" "88478591" "subst" "0.000246377" "02330" "CEP290_000287" "g.88478591T>C" "" "" "" "CEP290(NM_025114.4):c.4476A>G (p.E1492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88084814T>C" "" "benign" ""
"0000264549" "0" "30" "12" "88478512" "88478512" "subst" "0.000187141" "02330" "CEP290_000285" "g.88478512T>A" "" "" "" "CEP290(NM_025114.4):c.4555A>T (p.I1519L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88084735T>A" "" "likely benign" ""
"0000264551" "0" "90" "12" "88477713" "88477713" "subst" "6.07045E-5" "02330" "CEP290_000070" "g.88477713T>A" "" "" "" "CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88083936T>A" "" "pathogenic" ""
"0000264552" "0" "10" "12" "88474202" "88474203" "del" "0" "02330" "CEP290_000282" "g.88474202_88474203del" "" "" "" "CEP290(NM_025114.4):c.5013-20_5013-19delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88080425_88080426del" "" "benign" ""
"0000264553" "0" "10" "12" "88465242" "88465242" "subst" "1.36442E-5" "02330" "CEP290_000181" "g.88465242T>A" "" "" "" "CEP290(NM_025114.4):c.5856-16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88071465T>A" "" "benign" ""
"0000264555" "0" "10" "12" "88456570" "88456570" "subst" "4.16285E-5" "02330" "CEP290_000176" "g.88456570G>A" "" "" "" "CEP290(NM_025114.4):c.6271-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88062793G>A" "" "benign" ""
"0000264556" "0" "10" "12" "88453691" "88453691" "subst" "5.02503E-5" "02330" "CEP290_000171" "g.88453691C>T" "" "" "" "CEP290(NM_025114.4):c.6629G>A (p.R2210H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88059914C>T" "" "benign" ""
"0000264557" "0" "10" "12" "88452765" "88452765" "subst" "8.19901E-6" "02330" "CEP290_000170" "g.88452765T>C" "" "" "" "CEP290(NM_025114.4):c.6678A>G (p.A2226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88058988T>C" "" "benign" ""
"0000264558" "0" "10" "12" "88449343" "88449343" "subst" "0.00071277" "02330" "CEP290_000166" "g.88449343C>T" "" "" "" "CEP290(NM_025114.4):c.6960+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88055566C>T" "" "benign" ""
"0000264559" "0" "10" "12" "88444154" "88444154" "subst" "0.00113687" "02330" "CEP290_000162" "g.88444154C>A" "" "" "" "CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88050377C>A" "" "benign" ""
"0000266672" "0" "50" "12" "88514835" "88514835" "subst" "0.00131747" "02325" "CEP290_000224" "g.88514835T>C" "" "" "" "CEP290(NM_025114.3):c.1298A>G (p.D433G), CEP290(NM_025114.4):c.1298A>G (p.D433G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88121058T>C" "" "VUS" ""
"0000266673" "0" "10" "12" "88505078" "88505078" "subst" "0.893673" "02325" "CEP290_000206" "g.88505078T>C" "" "" "" "CEP290(NM_025114.3):c.2268A>G (p.S756=), CEP290(NM_025114.4):c.2268A>G (p.S756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111301T>C" "" "benign" ""
"0000266674" "0" "50" "12" "88533290" "88533290" "subst" "0" "02325" "CEP290_000247" "g.88533290C>T" "" "" "" "CEP290(NM_025114.4):c.232G>A (p.E78K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88139513C>T" "" "VUS" ""
"0000266677" "0" "90" "12" "88483027" "88483027" "subst" "8.12691E-6" "02325" "CEP290_000058" "g.88483027G>A" "" "" "" "CEP290(NM_025114.4):c.3811C>T (p.R1271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88089250G>A" "" "pathogenic" ""
"0000266678" "0" "10" "12" "88472996" "88472996" "subst" "0.0106737" "02325" "CEP290_000189" "g.88472996C>T" "" "" "" "CEP290(NM_025114.3):c.5237G>A (p.(Arg1746Gln)), CEP290(NM_025114.4):c.5237G>A (p.R1746Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88079219C>T" "" "benign" ""
"0000266679" "0" "10" "12" "88454602" "88454602" "dup" "0" "02325" "CEP290_000174" "g.88454602dup" "" "" "" "CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88060825dup" "" "benign" ""
"0000266680" "0" "50" "12" "88452707" "88452707" "subst" "0" "02325" "CEP290_000169" "g.88452707T>C" "" "" "" "CEP290(NM_025114.4):c.6736A>G (p.K2246E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88058930T>C" "" "VUS" ""
"0000268097" "0" "90" "12" "88483027" "88483027" "subst" "8.12691E-6" "02329" "CEP290_000058" "g.88483027G>A" "" "" "" "CEP290(NM_025114.4):c.3811C>T (p.R1271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88089250G>A" "" "pathogenic" ""
"0000268098" "0" "90" "12" "88477713" "88477713" "subst" "6.07045E-5" "02329" "CEP290_000070" "g.88477713T>A" "" "" "" "CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88083936T>A" "" "pathogenic" ""
"0000269976" "0" "10" "12" "88535167" "88535167" "subst" "0" "02326" "CEP290_000251" "g.88535167T>G" "" "" "" "CEP290(NM_025114.4):c.-27-56A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88141390T>G" "" "benign" ""
"0000269977" "0" "10" "12" "88514026" "88514026" "subst" "0" "02326" "CEP290_000222" "g.88514026C>T" "" "" "" "CEP290(NM_025114.4):c.1387G>A (p.V463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120249C>T" "" "benign" ""
"0000269978" "0" "10" "12" "88513885" "88513885" "subst" "0.00086176" "02326" "CEP290_000218" "g.88513885G>A" "" "" "" "CEP290(NM_025114.3):c.1522+6C>T (p.(=)), CEP290(NM_025114.4):c.1522+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120108G>A" "" "benign" ""
"0000269979" "0" "90" "12" "88512314" "88512314" "del" "0" "02326" "CEP290_000030" "g.88512314del" "" "" "" "CEP290(NM_025114.4):c.1666delA (p.I556Ffs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118537del" "" "pathogenic" ""
"0000269980" "0" "30" "12" "88512301" "88512301" "subst" "0.000453585" "02326" "CEP290_000212" "g.88512301C>T" "" "" "" "CEP290(NM_025114.3):c.1670G>A (p.R557H), CEP290(NM_025114.4):c.1670G>A (p.R557H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118524C>T" "" "likely benign" ""
"0000269982" "0" "90" "12" "88505095" "88505095" "subst" "0" "02326" "CEP290_000046" "g.88505095G>A" "" "" "" "CEP290(NM_025114.3):c.2251C>T (p.(Arg751Ter)), CEP290(NM_025114.4):c.2251C>T (p.R751*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111318G>A" "" "pathogenic" ""
"0000269984" "0" "10" "12" "88496779" "88496779" "subst" "0.00178456" "02326" "CEP290_000199" "g.88496779T>C" "" "" "" "CEP290(NM_025114.4):c.2827A>G (p.I943V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88103002T>C" "" "benign" ""
"0000269985" "0" "10" "12" "88496436" "88496437" "del" "0" "02326" "CEP290_000196" "g.88496436_88496437del" "" "" "" "CEP290(NM_025114.4):c.2991+195_2991+196delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88102659_88102660del" "" "benign" ""
"0000269986" "0" "10" "12" "88496576" "88496576" "subst" "0.0046544" "02326" "CEP290_000197" "g.88496576T>C" "" "" "" "CEP290(NM_025114.4):c.2991+39A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88102799T>C" "" "benign" ""
"0000269988" "0" "70" "12" "88481663" "88481663" "subst" "2.34192E-5" "02326" "CEP290_000190" "g.88481663C>A" "" "" "" "CEP290(NM_025114.4):c.4088G>T (p.R1363L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88087886C>A" "" "likely pathogenic" ""
"0000269989" "0" "10" "12" "88481632" "88481632" "subst" "0.0366725" "02326" "CEP290_000263" "g.88481632T>C" "" "" "" "CEP290(NM_025114.3):c.4119A>G (p.K1373=), CEP290(NM_025114.4):c.4119A>G (p.K1373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88087855T>C" "" "benign" ""
"0000269990" "0" "10" "12" "88480115" "88480115" "subst" "0" "02326" "CEP290_000291" "g.88480115G>C" "" "" "" "CEP290(NM_025114.4):c.4302+53C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88086338G>C" "" "benign" ""
"0000269991" "0" "90" "12" "88479860" "88479860" "subst" "2.03797E-5" "02326" "CEP290_000066" "g.88479860G>A" "" "" "" "CEP290(NM_025114.3):c.4393C>T (p.(Arg1465*)), CEP290(NM_025114.4):c.4393C>T (p.R1465*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88086083G>A" "" "pathogenic" ""
"0000269992" "0" "10" "12" "88525062" "88525062" "del" "0" "02326" "CEP290_000241" "g.88525062del" "" "" "" "CEP290(NM_025114.4):c.442-54delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88131285del" "" "benign" ""
"0000269993" "0" "90" "12" "88479815" "88479815" "subst" "4.63877E-5" "02326" "CEP290_000289" "g.88479815C>T" "" "" "" "CEP290(NM_025114.4):c.4437+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88086038C>T" "" "pathogenic" ""
"0000269994" "0" "10" "12" "88478512" "88478512" "subst" "0.000187141" "02326" "CEP290_000285" "g.88478512T>A" "" "" "" "CEP290(NM_025114.4):c.4555A>T (p.I1519L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88084735T>A" "" "benign" ""
"0000269995" "0" "90" "12" "88476860" "88476860" "subst" "0" "02326" "CEP290_000262" "g.88476860G>A" "" "" "" "CEP290(NM_025114.4):c.4960C>T (p.Q1654*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88083083G>A" "" "pathogenic" ""
"0000269996" "0" "10" "12" "88474059" "88474059" "subst" "0" "02326" "CEP290_000281" "g.88474059T>A" "" "" "" "CEP290(NM_025114.4):c.5126A>T (p.Q1709L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88080282T>A" "" "benign" ""
"0000269997" "0" "10" "12" "88524252" "88524252" "subst" "0" "02326" "CEP290_000235" "g.88524252C>T" "" "" "" "CEP290(NM_025114.4):c.517-55G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88130475C>T" "" "benign" ""
"0000269998" "0" "10" "12" "88472996" "88472996" "subst" "0.0106737" "02326" "CEP290_000189" "g.88472996C>T" "" "" "" "CEP290(NM_025114.3):c.5237G>A (p.(Arg1746Gln)), CEP290(NM_025114.4):c.5237G>A (p.R1746Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88079219C>T" "" "benign" ""
"0000269999" "0" "10" "12" "88472757" "88472757" "subst" "0" "02326" "CEP290_000187" "g.88472757C>T" "" "" "" "CEP290(NM_025114.4):c.5364+112G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88078980C>T" "" "benign" ""
"0000270000" "0" "10" "12" "88471554" "88471554" "subst" "0.00114452" "02326" "CEP290_000186" "g.88471554T>C" "" "" "" "CEP290(NM_025114.3):c.5506A>G (p.I1836V), CEP290(NM_025114.4):c.5506A>G (p.I1836V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88077777T>C" "" "benign" ""
"0000270001" "0" "10" "12" "88471219" "88471219" "subst" "0" "02326" "CEP290_000185" "g.88471219T>C" "" "" "" "CEP290(NM_025114.4):c.5587-98A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88077442T>C" "" "benign" ""
"0000270002" "0" "90" "12" "88471040" "88471040" "subst" "9.58901E-5" "02326" "CEP290_000088" "g.88471040C>A" "" "" "" "CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88077263C>A" "" "pathogenic" ""
"0000270003" "0" "10" "12" "88465242" "88465242" "subst" "2.72884E-5" "02326" "CEP290_000182" "g.88465242T>C" "" "" "" "CEP290(NM_025114.4):c.5856-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88071465T>C" "" "benign" ""
"0000270004" "0" "90" "12" "88449451" "88449451" "del" "0" "02326" "CEP290_000109" "g.88449451del" "" "" "" "CEP290(NM_025114.4):c.6869delA (p.N2290Ifs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88055674del" "" "pathogenic" ""
"0000270005" "0" "10" "12" "88449289" "88449289" "subst" "0" "02326" "CEP290_000165" "g.88449289T>C" "" "" "" "CEP290(NM_025114.4):c.6960+64A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88055512T>C" "" "benign" ""
"0000270006" "0" "10" "12" "88448076" "88448076" "del" "0" "02326" "CEP290_000164" "g.88448076del" "" "" "" "CEP290(NM_025114.4):c.7034+50delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88054299del" "" "benign" ""
"0000270007" "0" "30" "12" "88443125" "88443125" "subst" "9.14554E-5" "02326" "CEP290_000161" "g.88443125C>T" "" "" "" "CEP290(NM_025114.3):c.7276G>A (p.(Asp2426Asn)), CEP290(NM_025114.4):c.7276G>A (p.D2426N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88049348C>T" "" "likely benign" ""
"0000270008" "0" "30" "12" "88523494" "88523494" "subst" "0.0137412" "02326" "CEP290_000022" "g.88523494C>G" "" "" "" "CEP290(NM_025114.3):c.829G>C (p.E277Q, p.(Glu277Gln)), CEP290(NM_025114.4):c.829G>C (p.E277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88129717C>G" "" "likely benign" ""
"0000273209" "0" "90" "12" "88514915" "88514916" "del" "0" "01943" "CEP290_000026" "g.88514915_88514916del" "" "" "" "CEP290(NM_025114.3):c.1219_1220delAT (p.M407Efs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88121138_88121139del" "" "pathogenic" ""
"0000273210" "0" "90" "12" "88513993" "88513997" "del" "0" "01943" "CEP290_000027" "g.88513993_88513997del" "" "" "" "CEP290(NM_025114.3):c.1419_1423delAATAA (p.I474Rfs*5), CEP290(NM_025114.4):c.1419_1423delAATAA (p.I474Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120216_88120220del" "" "pathogenic" ""
"0000273211" "0" "90" "12" "88513912" "88513912" "subst" "0" "01943" "CEP290_000219" "g.88513912C>A" "" "" "" "CEP290(NM_025114.3):c.1501G>T (p.E501*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120135C>A" "" "pathogenic" ""
"0000273212" "0" "90" "12" "88512326" "88512326" "subst" "1.42337E-5" "01943" "CEP290_000033" "g.88512326G>A" "" "" "" "CEP290(NM_025114.3):c.1645C>T (p.R549*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118549G>A" "" "pathogenic" ""
"0000273214" "0" "30" "12" "88510905" "88510905" "subst" "0.000309424" "01943" "CEP290_000210" "g.88510905G>A" "" "" "" "CEP290(NM_025114.3):c.1729C>T (p.L577=), CEP290(NM_025114.4):c.1729C>T (p.L577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88117128G>A" "" "likely benign" ""
"0000273215" "0" "30" "12" "88508258" "88508258" "subst" "0.0335273" "01943" "CEP290_000007" "g.88508258T>C" "" "" "" "CEP290(NM_025114.3):c.1991A>G (p.D664G, p.(Asp664Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88114481T>C" "" "likely benign" ""
"0000273216" "0" "90" "12" "88505124" "88505132" "del" "0" "01943" "CEP290_000207" "g.88505124_88505132del" "" "" "" "CEP290(NM_025114.3):c.2218-1_2225delGATAGACCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111347_88111355del" "" "pathogenic" ""
"0000273217" "0" "10" "12" "88505078" "88505078" "subst" "0.893673" "01943" "CEP290_000206" "g.88505078T>C" "" "" "" "CEP290(NM_025114.3):c.2268A>G (p.S756=), CEP290(NM_025114.4):c.2268A>G (p.S756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111301T>C" "" "benign" ""
"0000273218" "0" "50" "12" "88502844" "88502844" "subst" "0" "01943" "CEP290_000205" "g.88502844T>A" "" "" "" "CEP290(NM_025114.3):c.2482A>T (p.S828C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88109067T>A" "" "VUS" ""
"0000273219" "0" "10" "12" "88532978" "88532978" "subst" "0.00538" "01943" "CEP290_000245" "g.88532978T>A" "" "" "" "CEP290(NM_025114.3):c.251-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88139201T>A" "" "benign" ""
"0000273220" "0" "10" "12" "88500847" "88500847" "subst" "0.0790705" "01943" "CEP290_000048" "g.88500847T>C" "" "" "" "CEP290(NM_025114.3):c.2512A>G (p.K838E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88107070T>C" "" "benign" ""
"0000273221" "0" "30" "12" "88500578" "88500578" "subst" "8.37696E-6" "01943" "CEP290_000201" "g.88500578T>C" "" "" "" "CEP290(NM_025114.3):c.2691A>G (p.I897M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88106801T>C" "" "likely benign" ""
"0000273222" "0" "30" "12" "88500448" "88500448" "subst" "8.83002E-6" "01943" "CEP290_000200" "g.88500448G>A" "" "" "" "CEP290(NM_025114.3):c.2817+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88106671G>A" "" "likely benign" ""
"0000273224" "0" "50" "12" "88530520" "88530520" "subst" "0.000162688" "01943" "CEP290_000244" "g.88530520C>T" "" "" "" "CEP290(NM_025114.3):c.341G>A (p.R114H, p.(Arg114His)), CEP290(NM_025114.4):c.341G>A (p.R114H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88136743C>T" "" "VUS" ""
"0000273225" "0" "90" "12" "88530494" "88530494" "subst" "1.62579E-5" "01943" "CEP290_000243" "g.88530494G>A" "" "" "" "CEP290(NM_025114.3):c.367C>T (p.Q123*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88136717G>A" "" "pathogenic" ""
"0000273226" "0" "50" "12" "88481664" "88481664" "subst" "0.00305825" "01943" "CEP290_000191" "g.88481664G>A" "" "" "" "CEP290(NM_025114.3):c.4087C>T (p.R1363W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88087887G>A" "" "VUS" ""
"0000273227" "0" "30" "12" "88481632" "88481632" "subst" "0.0366725" "01943" "CEP290_000263" "g.88481632T>C" "" "" "" "CEP290(NM_025114.3):c.4119A>G (p.K1373=), CEP290(NM_025114.4):c.4119A>G (p.K1373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88087855T>C" "" "likely benign" ""
"0000273228" "0" "50" "12" "88480178" "88480178" "subst" "0" "01943" "CEP290_000292" "g.88480178G>A" "" "" "" "CEP290(NM_025114.3):c.4292C>T (p.A1431V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88086401G>A" "" "VUS" ""
"0000273229" "0" "90" "12" "88524986" "88524986" "subst" "0" "01943" "CEP290_000001" "g.88524986G>A" "" "" "" "CEP290(NM_025114.3):c.451C>T (p.R151*, p.(Arg151*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88131209G>A" "" "pathogenic" ""
"0000273230" "0" "90" "12" "88478545" "88478545" "subst" "8.14936E-6" "01943" "CEP290_000286" "g.88478545G>A" "" "" "" "CEP290(NM_025114.3):c.4522C>T (p.R1508*), CEP290(NM_025114.4):c.4522C>T (p.R1508*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88084768G>A" "" "pathogenic" ""
"0000273231" "0" "30" "12" "88478465" "88478465" "subst" "0" "01943" "CEP290_000283" "g.88478465T>G" "" "" "" "CEP290(NM_025114.3):c.4602A>C (p.T1534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88084688T>G" "" "likely benign" ""
"0000273232" "0" "90" "12" "88477713" "88477713" "subst" "6.07045E-5" "01943" "CEP290_000070" "g.88477713T>A" "" "" "" "CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88083936T>A" "" "pathogenic" ""
"0000273233" "0" "30" "12" "88477630" "88477630" "subst" "0.000868289" "01943" "CEP290_000073" "g.88477630C>T" "" "" "" "CEP290(NM_025114.3):c.4806G>A (p.T1602=), CEP290(NM_025114.4):c.4806G>A (p.T1602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88083853C>T" "" "likely benign" ""
"0000273234" "0" "50" "12" "88524370" "88524370" "subst" "0" "01943" "CEP290_000237" "g.88524370T>C" "" "" "" "CEP290(NM_025114.3):c.496-28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88130593T>C" "" "VUS" ""
"0000273235" "0" "30" "12" "88524335" "88524335" "subst" "0.000282433" "01943" "CEP290_000236" "g.88524335C>T" "" "" "" "CEP290(NM_025114.3):c.503G>A (p.R168H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88130558C>T" "" "likely benign" ""
"0000273236" "0" "50" "12" "88474058" "88474058" "subst" "0.000170807" "01943" "CEP290_000280" "g.88474058C>A" "" "" "" "CEP290(NM_025114.3):c.5127G>T (p.Q1709H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88080281C>A" "" "VUS" ""
"0000273237" "0" "50" "12" "88524191" "88524191" "subst" "0.000186935" "01943" "CEP290_000234" "g.88524191G>T" "" "" "" "CEP290(NM_025114.3):c.523C>A (p.Q175K), CEP290(NM_025114.4):c.523C>A (p.(Gln175Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88130414G>T" "" "VUS" ""
"0000273238" "0" "30" "12" "88472911" "88472911" "subst" "0.00351665" "01943" "CEP290_000188" "g.88472911G>A" "" "" "" "CEP290(NM_025114.3):c.5322C>T (p.L1774=, p.(Leu1774Leu)), CEP290(NM_025114.4):c.5322C>T (p.L1774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88079134G>A" "" "likely benign" ""
"0000273239" "0" "30" "12" "88471047" "88471047" "subst" "0" "01943" "CEP290_000183" "g.88471047T>C" "" "" "" "CEP290(NM_025114.3):c.5661A>G (p.Q1887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88077270T>C" "" "likely benign" ""
"0000273240" "0" "50" "12" "88462318" "88462318" "subst" "0.000307421" "01943" "CEP290_000178" "g.88462318T>C" "" "" "" "CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88068541T>C" "" "VUS" ""
"0000273242" "0" "30" "12" "88444154" "88444154" "subst" "0.00113687" "01943" "CEP290_000162" "g.88444154C>A" "" "" "" "CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88050377C>A" "" "likely benign" ""
"0000273243" "0" "50" "12" "88523601" "88523601" "subst" "2.16001E-5" "01943" "CEP290_000233" "g.88523601T>C" "" "" "" "CEP290(NM_025114.3):c.722A>G (p.K241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88129824T>C" "" "VUS" ""
"0000273244" "0" "30" "12" "88523494" "88523494" "subst" "0.0137412" "01943" "CEP290_000022" "g.88523494C>G" "" "" "" "CEP290(NM_025114.3):c.829G>C (p.E277Q, p.(Glu277Gln)), CEP290(NM_025114.4):c.829G>C (p.E277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88129717C>G" "" "likely benign" ""
"0000273245" "0" "30" "12" "88534986" "88534986" "subst" "0" "01943" "CEP290_000249" "g.88534986G>A" "" "" "" "CEP290(NM_025114.3):c.99C>T (p.S33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88141209G>A" "" "likely benign" ""
"0000323004" "0" "50" "12" "88442144" "88442144" "dup" "0" "01804" "C12orf29_000002" "g.88442144dup" "" "" "" "C12orf29(NM_001009894.2):c.917_918insT (p.(Leu308PhefsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88048367dup" "" "VUS" ""
"0000323005" "0" "50" "12" "88443094" "88443096" "dup" "0" "01804" "CEP290_000160" "g.88443094_88443096dup" "" "" "" "CEP290(NM_025114.3):c.7313_7314insGAA (p.(Lys2437dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88049317_88049319dup" "" "VUS" ""
"0000323006" "0" "50" "12" "88447432" "88447432" "subst" "4.83623E-5" "01804" "CEP290_000163" "g.88447432G>A" "" "" "" "CEP290(NM_025114.3):c.7126C>T (p.(Pro2376Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88053655G>A" "" "VUS" ""
"0000323007" "0" "50" "12" "88449451" "88449451" "dup" "0" "01804" "CEP290_000168" "g.88449451dup" "" "" "" "CEP290(NM_025114.3):c.6869_6870insA (p.(Asn2290LysfsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88055674dup" "" "VUS" ""
"0000323008" "0" "50" "12" "88453750" "88453750" "subst" "0" "01804" "CEP290_000172" "g.88453750C>T" "" "" "" "CEP290(NM_025114.3):c.6570G>A (p.M2190I), CEP290(NM_025114.4):c.6570G>A (p.(Met2190Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88059973C>T" "" "VUS" ""
"0000323009" "0" "30" "12" "88454728" "88454728" "subst" "0.00746961" "01804" "CEP290_000175" "g.88454728A>G" "" "" "" "CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88060951A>G" "" "likely benign" ""
"0000323011" "0" "50" "12" "88465084" "88465084" "subst" "0.000146268" "01804" "CEP290_000180" "g.88465084T>C" "" "" "" "CEP290(NM_025114.3):c.5998A>G (p.(Ile2000Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88071307T>C" "" "VUS" ""
"0000323015" "0" "50" "12" "88496643" "88496643" "subst" "0" "01804" "CEP290_000198" "g.88496643T>C" "" "" "" "CEP290(NM_025114.3):c.2963A>G (p.(Gln988Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88102866T>C" "" "VUS" ""
"0000323019" "0" "50" "12" "88505095" "88505095" "subst" "0" "01804" "CEP290_000046" "g.88505095G>A" "" "" "" "CEP290(NM_025114.3):c.2251C>T (p.(Arg751Ter)), CEP290(NM_025114.4):c.2251C>T (p.R751*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111318G>A" "" "VUS" ""
"0000323021" "0" "30" "12" "88512485" "88512485" "subst" "0.00148363" "01804" "CEP290_000216" "g.88512485A>G" "" "" "" "CEP290(NM_025114.3):c.1558T>C (p.(Phe520Leu)), CEP290(NM_025114.4):c.1558T>C (p.F520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118708A>G" "" "likely benign" ""
"0000323022" "0" "50" "12" "88513977" "88513977" "subst" "0" "01804" "CEP290_000220" "g.88513977A>G" "" "" "" "CEP290(NM_025114.3):c.1436T>C (p.(Ile479Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120200A>G" "" "VUS" ""
"0000323024" "0" "50" "12" "88519120" "88519120" "subst" "0.000998676" "01804" "CEP290_000226" "g.88519120A>C" "" "" "" "CEP290(NM_025114.3):c.1092T>G (p.I364M, p.(Ile364Met)), CEP290(NM_025114.4):c.1092T>G (p.I364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88125343A>C" "" "VUS" ""
"0000323025" "0" "50" "12" "88520195" "88520195" "subst" "4.80371E-5" "01804" "CEP290_000227" "g.88520195A>T" "" "" "" "CEP290(NM_025114.3):c.963T>A (p.(Asp321Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88126418A>T" "" "VUS" ""
"0000323027" "0" "50" "12" "88523485" "88523485" "subst" "9.65759E-5" "01804" "CEP290_000230" "g.88523485G>A" "" "" "" "CEP290(NM_025114.3):c.838C>T (p.(His280Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88129708G>A" "" "VUS" ""
"0000338843" "0" "10" "12" "88454602" "88454602" "dup" "0" "02327" "CEP290_000137" "g.88454602dup" "" "" "" "CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88060825dup" "" "benign" ""
"0000338845" "0" "10" "12" "88525014" "88525014" "subst" "0" "02327" "CEP290_000240" "g.88525014A>T" "" "" "" "CEP290(NM_025114.3):c.442-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88131237A>T" "" "benign" ""
"0000340504" "0" "10" "12" "88481632" "88481632" "subst" "0.0366725" "02327" "CEP290_000263" "g.88481632T>C" "" "" "" "CEP290(NM_025114.3):c.4119A>G (p.K1373=), CEP290(NM_025114.4):c.4119A>G (p.K1373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88087855T>C" "" "benign" ""
"0000341553" "0" "10" "12" "88505633" "88505633" "subst" "0.138346" "02327" "CEP290_000041" "g.88505633A>G" "" "" "" "CEP290(NM_025114.3):c.2055T>C (p.A685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111856A>G" "" "benign" ""
"0000341590" "0" "50" "12" "88533296" "88533296" "subst" "0.000622755" "02327" "CEP290_000276" "g.88533296C>T" "" "" "" "CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88139519C>T" "" "VUS" ""
"0000341803" "0" "10" "12" "88483128" "88483128" "subst" "0.0118974" "02327" "CEP290_000267" "g.88483128C>T" "" "" "" "CEP290(NM_025114.3):c.3710G>A (p.(Arg1237His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88089351C>T" "" "benign" ""
"0000341873" "0" "50" "12" "88481688" "88481688" "subst" "0" "02327" "CEP290_000264" "g.88481688G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88087911G>A" "" "VUS" ""
"0000341942" "0" "90" "12" "88479860" "88479860" "subst" "2.03797E-5" "02327" "CEP290_000066" "g.88479860G>A" "" "" "" "CEP290(NM_025114.3):c.4393C>T (p.(Arg1465*)), CEP290(NM_025114.4):c.4393C>T (p.R1465*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88086083G>A" "" "pathogenic" ""
"0000342081" "0" "10" "12" "88472996" "88472996" "subst" "0.0106737" "02327" "CEP290_000189" "g.88472996C>T" "" "" "" "CEP290(NM_025114.3):c.5237G>A (p.(Arg1746Gln)), CEP290(NM_025114.4):c.5237G>A (p.R1746Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88079219C>T" "" "benign" ""
"0000342297" "0" "50" "12" "88453692" "88453692" "subst" "0.000168996" "02327" "CEP290_000254" "g.88453692G>A" "" "" "" "CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88059915G>A" "" "VUS" ""
"0000342727" "0" "30" "12" "88519133" "88519133" "subst" "0.00534552" "02327" "CEP290_000149" "g.88519133C>T" "" "" "" "CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88125356C>T" "" "likely benign" ""
"0000343031" "0" "90" "12" "88513900" "88513903" "del" "0" "02327" "CEP290_000273" "g.88513900_88513903del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88120123_88120126del" "" "pathogenic" ""
"0000343338" "0" "90" "12" "88505095" "88505095" "subst" "0" "02327" "CEP290_000046" "g.88505095G>A" "" "" "" "CEP290(NM_025114.3):c.2251C>T (p.(Arg751Ter)), CEP290(NM_025114.4):c.2251C>T (p.R751*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88111318G>A" "" "pathogenic" ""
"0000343394" "0" "50" "12" "88502880" "88502880" "subst" "0" "02327" "CEP290_000271" "g.88502880G>A" "" "" "" "CEP290(NM_025114.3):c.2446C>T (p.R816C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88109103G>A" "" "VUS" ""
"0000344097" "0" "50" "12" "88514835" "88514835" "subst" "0.00131747" "02327" "CEP290_000224" "g.88514835T>C" "" "" "" "CEP290(NM_025114.3):c.1298A>G (p.D433G), CEP290(NM_025114.4):c.1298A>G (p.D433G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88121058T>C" "" "VUS" ""
"0000344592" "0" "90" "12" "88476860" "88476860" "subst" "0" "02327" "CEP290_000262" "g.88476860G>A" "" "" "" "CEP290(NM_025114.4):c.4960C>T (p.Q1654*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88083083G>A" "" "pathogenic" ""
"0000344682" "0" "90" "12" "88447510" "88447510" "subst" "0" "02327" "CEP290_000253" "g.88447510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88053733G>A" "" "pathogenic" ""
"0000344899" "0" "90" "12" "88512290" "88512290" "subst" "0" "02327" "CEP290_000272" "g.88512290G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88118513G>A" "" "pathogenic" ""
"0000345284" "0" "70" "12" "88443077" "88443077" "subst" "0" "02327" "CEP290_000252" "g.88443077C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88049300C>A" "" "likely pathogenic" ""
"0000345818" "0" "90" "12" "88471040" "88471040" "subst" "9.58901E-5" "02327" "CEP290_000088" "g.88471040C>A" "" "" "" "CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88077263C>A" "" "pathogenic" ""
"0000346411" "0" "50" "12" "88453773" "88453773" "subst" "0" "02327" "CEP290_000255" "g.88453773G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88059996G>A" "" "VUS" ""
"0000346872" "0" "50" "12" "88482960" "88482960" "subst" "0" "02327" "CEP290_000266" "g.88482960A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88089183A>C" "" "VUS" ""
"0000347429" "0" "90" "12" "88477713" "88477713" "subst" "6.07045E-5" "02327" "CEP290_000070" "g.88477713T>A" "" "" "" "CEP290(NM_025114.3):c.4723A>T (p.K1575*), CEP290(NM_025114.4):c.4723A>T (p.K1575*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88083936T>A" "" "pathogenic" ""
"0000347522" "0" "50" "12" "88520199" "88520199" "subst" "0" "02327" "CEP290_000274" "g.88520199T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88126422T>C" "" "VUS" ""
"0000347659" "0" "10" "12" "88500847" "88500847" "subst" "0.0790705" "02327" "CEP290_000048" "g.88500847T>C" "" "" "" "CEP290(NM_025114.3):c.2512A>G (p.K838E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88107070T>C" "" "benign" ""
"0000349361" "0" "50" "12" "88454731" "88454731" "subst" "1.73402E-5" "02327" "CEP290_000256" "g.88454731G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88060954G>T" "" "VUS" ""
"0000350778" "0" "90" "12" "88454772" "88454781" "del" "0" "02327" "CEP290_000257" "g.88454772_88454781del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88060995_88061004del" "" "pathogenic" ""
"0000351400" "0" "10" "12" "88456449" "88456449" "subst" "0.0123159" "02327" "CEP290_000258" "g.88456449T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88062672T>A" "" "benign" ""
"0000351401" "0" "10" "12" "88470981" "88470981" "subst" "0.0119419" "02327" "CEP290_000259" "g.88470981G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88077204G>T" "" "benign" ""
"0000351402" "0" "90" "12" "88471122" "88471122" "subst" "1.43986E-5" "02327" "CEP290_000133" "g.88471122C>G" "" "" "" "CEP290(NM_025114.4):c.5587-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88077345C>G" "" "pathogenic" ""
"0000351405" "0" "90" "12" "88494960" "88494960" "subst" "0" "02327" "CEP290_000002" "g.88494960T>C" "" "" "" "CEP290(NM_025114.4):c.2991+1655A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88101183T>C" "" "pathogenic" ""
"0000351411" "0" "10" "12" "88535682" "88535682" "subst" "0" "02327" "CEP290_000277" "g.88535682C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88141905C>A" "" "benign" ""
"0000549305" "0" "30" "12" "88442951" "88442951" "subst" "0" "02330" "CEP290_000298" "g.88442951T>C" "" "" "" "CEP290(NM_025114.4):c.*10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88049174T>C" "" "likely benign" ""
"0000549306" "0" "50" "12" "88443008" "88443009" "del" "0" "01804" "CEP290_000299" "g.88443008_88443009del" "" "" "" "CEP290(NM_025114.3):c.7394_7395del (p.(Glu2465ValfsTer2)), CEP290(NM_025114.4):c.7394_7395delAG (p.E2465Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88049231_88049232del" "" "VUS" ""
"0000549307" "0" "50" "12" "88443053" "88443053" "subst" "0" "02330" "CEP290_000300" "g.88443053C>A" "" "" "" "C12orf29(NM_001009894.3):c.*854C>A, CEP290(NM_025114.4):c.7348G>T (p.E2450*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88049276C>A" "" "VUS" ""
"0000549309" "0" "50" "12" "88443187" "88443187" "subst" "0" "02329" "CEP290_000302" "g.88443187T>G" "" "" "" "CEP290(NM_025114.4):c.7214A>C (p.E2405A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88049410T>G" "" "VUS" ""
"0000549310" "0" "10" "12" "88447371" "88447371" "del" "0" "02326" "CEP290_000303" "g.88447371del" "" "" "" "CEP290(NM_025114.4):c.7129+73delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88053594del" "" "benign" ""
"0000549311" "0" "30" "12" "88447488" "88447488" "subst" "2.34486E-5" "01943" "CEP290_000304" "g.88447488T>C" "" "" "" "CEP290(NM_025114.3):c.7070A>G (p.E2357G), CEP290(NM_025114.4):c.7070A>G (p.(Glu2357Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88053711T>C" "" "likely benign" ""
"0000549312" "0" "30" "12" "88448147" "88448147" "subst" "0" "01804" "CEP290_000305" "g.88448147T>C" "" "" "" "CEP290(NM_025114.3):c.7004A>G (p.(Gln2335Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88054370T>C" "" "likely benign" ""
"0000549313" "0" "30" "12" "88452637" "88452637" "subst" "0.000219601" "01943" "CEP290_000306" "g.88452637A>G" "" "" "" "CEP290(NM_025114.3):c.6806T>C (p.I2269T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88058860A>G" "" "likely benign" ""
"0000549314" "0" "70" "12" "88453692" "88453692" "subst" "0.000168996" "01943" "CEP290_000254" "g.88453692G>A" "" "" "" "CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88059915G>A" "" "likely pathogenic" ""
"0000549315" "0" "50" "12" "88453692" "88453692" "subst" "0.000168996" "01804" "CEP290_000254" "g.88453692G>A" "" "" "" "CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88059915G>A" "" "VUS" ""
"0000549316" "0" "50" "12" "88453692" "88453692" "subst" "0.000168996" "02325" "CEP290_000254" "g.88453692G>A" "" "" "" "CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88059915G>A" "" "VUS" ""
"0000549317" "0" "50" "12" "88453692" "88453692" "subst" "0.000168996" "02326" "CEP290_000254" "g.88453692G>A" "" "" "" "CEP290(NM_025114.3):c.6628C>T (p.R2210C, p.(Arg2210Cys)), CEP290(NM_025114.4):c.6628C>T (p.R2210C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88059915G>A" "" "VUS" ""
"0000549319" "0" "30" "12" "88453762" "88453762" "subst" "1.57178E-5" "01943" "CEP290_000307" "g.88453762A>C" "" "" "" "CEP290(NM_025114.3):c.6558T>G (p.H2186Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88059985A>C" "" "likely benign" ""
"0000549320" "0" "10" "12" "88454602" "88454602" "dup" "0" "01943" "CEP290_000174" "g.88454602dup" "" "" "" "CEP290(NM_025114.3):c.6522+12dupT, CEP290(NM_025114.4):c.6522+4delAinsAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88060825dup" "" "benign" ""
"0000549321" "0" "30" "12" "88454728" "88454728" "subst" "0.00746961" "02330" "CEP290_000175" "g.88454728A>G" "" "" "" "CEP290(NM_025114.3):c.6401T>C (p.(Ile2134Thr)), CEP290(NM_025114.4):c.6401T>C (p.I2134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88060951A>G" "" "likely benign" ""
"0000549322" "0" "30" "12" "88457793" "88457793" "subst" "0" "01943" "CEP290_000308" "g.88457793G>T" "" "" "" "CEP290(NM_025114.3):c.6235C>A (p.L2079I, p.(Leu2079Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88064016G>T" "" "likely benign" ""
"0000549323" "0" "10" "12" "88457866" "88457866" "subst" "0" "02330" "CEP290_000309" "g.88457866A>G" "" "" "" "CEP290(NM_025114.4):c.6162T>C (p.H2054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88064089A>G" "" "benign" ""
"0000549324" "0" "50" "12" "88457886" "88457886" "subst" "3.53991E-5" "02325" "CEP290_000310" "g.88457886C>G" "" "" "" "CEP290(NM_025114.4):c.6142G>C (p.G2048R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88064109C>G" "" "VUS" ""
"0000549325" "0" "10" "12" "88457911" "88457911" "subst" "0.00040645" "02330" "CEP290_000311" "g.88457911A>C" "" "" "" "CEP290(NM_025114.4):c.6136-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88064134A>C" "" "benign" ""
"0000549326" "0" "50" "12" "88462336" "88462336" "subst" "4.40859E-6" "01943" "CEP290_000312" "g.88462336T>C" "" "" "" "CEP290(NM_025114.3):c.6098A>G (p.E2033G, p.(Glu2033Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88068559T>C" "" "VUS" ""
"0000549328" "0" "50" "12" "88462400" "88462400" "subst" "0" "02327" "CEP290_000314" "g.88462400C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88068623C>A" "" "VUS" ""
"0000549329" "0" "50" "12" "88462402" "88462402" "subst" "4.37411E-6" "02327" "CEP290_000315" "g.88462402C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88068625C>T" "" "VUS" ""
"0000549330" "0" "30" "12" "88465177" "88465177" "subst" "0" "01804" "CEP290_000316" "g.88465177T>C" "" "" "" "CEP290(NM_025114.3):c.5905A>G (p.(Met1969Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88071400T>C" "" "likely benign" ""
"0000549332" "0" "50" "12" "88471477" "88471477" "subst" "0" "02330" "CEP290_000318" "g.88471477T>G" "" "" "" "CEP290(NM_025114.4):c.5583A>C (p.L1861F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88077700T>G" "" "VUS" ""
"0000549333" "0" "10" "12" "88471554" "88471554" "subst" "0.00114452" "01943" "CEP290_000186" "g.88471554T>C" "" "" "" "CEP290(NM_025114.3):c.5506A>G (p.I1836V), CEP290(NM_025114.4):c.5506A>G (p.I1836V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88077777T>C" "" "benign" ""
"0000549334" "0" "90" "12" "88472889" "88472889" "subst" "2.63532E-5" "02327" "CEP290_000083" "g.88472889G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88079112G>A" "" "pathogenic" ""
"0000549335" "0" "50" "12" "88472895" "88472895" "subst" "0.000117942" "01943" "CEP290_000319" "g.88472895C>T" "" "" "" "CEP290(NM_025114.3):c.5338G>A (p.V1780I), CEP290(NM_025114.4):c.5338G>A (p.V1780I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88079118C>T" "" "VUS" ""
"0000549336" "0" "50" "12" "88472909" "88472909" "subst" "0" "02330" "CEP290_000320" "g.88472909T>C" "" "" "" "CEP290(NM_025114.4):c.5324A>G (p.N1775S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88079132T>C" "" "VUS" ""
"0000549338" "0" "30" "12" "88472996" "88472996" "subst" "0.0106737" "01804" "CEP290_000189" "g.88472996C>T" "" "" "" "CEP290(NM_025114.3):c.5237G>A (p.(Arg1746Gln)), CEP290(NM_025114.4):c.5237G>A (p.R1746Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88079219C>T" "" "likely benign" ""
"0000549339" "0" "10" "12" "88473029" "88473029" "dup" "0" "02330" "CEP290_000322" "g.88473029dup" "" "" "" "CEP290(NM_025114.4):c.5227-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88079252dup" "" "benign" ""
"0000549340" "0" "10" "12" "88473029" "88473029" "dup" "0" "02326" "CEP290_000322" "g.88473029dup" "" "" "" "CEP290(NM_025114.4):c.5227-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88079252dup" "" "benign" ""
"0000549341" "0" "10" "12" "88473986" "88473986" "subst" "0.00185222" "02330" "CEP290_000323" "g.88473986T>C" "" "" "" "CEP290(NM_025114.4):c.5199A>G (p.Q1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88080209T>C" "" "benign" ""
"0000549342" "0" "50" "12" "88474030" "88474030" "subst" "0" "01943" "CEP290_000324" "g.88474030G>C" "" "" "" "CEP290(NM_025114.3):c.5155C>G (p.P1719A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88080253G>C" "" "VUS" ""
"0000549343" "0" "30" "12" "88474130" "88474130" "subst" "0.000117903" "02330" "CEP290_000325" "g.88474130C>T" "" "" "" "CEP290(NM_025114.4):c.5055G>A (p.A1685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88080353C>T" "" "likely benign" ""
"0000549344" "0" "30" "12" "88477004" "88477004" "subst" "0" "02330" "CEP290_000327" "g.88477004A>G" "" "" "" "CEP290(NM_025114.4):c.4816T>C (p.L1606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88083227A>G" "" "likely benign" ""
"0000549345" "0" "50" "12" "88477682" "88477682" "subst" "0.00013673" "01943" "CEP290_000328" "g.88477682T>C" "" "" "" "CEP290(NM_025114.3):c.4754A>G (p.H1585R), CEP290(NM_025114.4):c.4754A>G (p.(His1585Arg), p.H1585R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88083905T>C" "" "VUS" ""
"0000549347" "0" "90" "12" "88477732" "88477732" "subst" "3.49078E-5" "02327" "CEP290_000009" "g.88477732C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88083955C>A" "" "pathogenic" ""
"0000549348" "0" "90" "12" "88478410" "88478412" "del" "0" "01943" "CEP290_000068" "g.88478410_88478412del" "" "" "" "CEP290(NM_025114.3):c.4661_4663delAAG (p.E1554del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88084633_88084635del" "" "pathogenic" ""
"0000549350" "0" "30" "12" "88478636" "88478636" "subst" "2.84184E-5" "01804" "CEP290_000288" "g.88478636T>C" "" "" "" "CEP290(NM_025114.3):c.4438-7A>G (p.(=)), CEP290(NM_025114.4):c.4438-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88084859T>C" "" "likely benign" ""
"0000549351" "0" "30" "12" "88480233" "88480233" "subst" "0.0022471" "02330" "CEP290_000330" "g.88480233C>G" "" "" "" "CEP290(NM_025114.3):c.4237G>C (p.D1413H, p.(Asp1413His)), CEP290(NM_025114.4):c.4237G>C (p.D1413H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88086456C>G" "" "likely benign" ""
"0000549352" "0" "50" "12" "88480233" "88480233" "subst" "0.0022471" "01943" "CEP290_000330" "g.88480233C>G" "" "" "" "CEP290(NM_025114.3):c.4237G>C (p.D1413H, p.(Asp1413His)), CEP290(NM_025114.4):c.4237G>C (p.D1413H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88086456C>G" "" "VUS" ""
"0000549353" "0" "30" "12" "88480233" "88480233" "subst" "0.0022471" "01804" "CEP290_000330" "g.88480233C>G" "" "" "" "CEP290(NM_025114.3):c.4237G>C (p.D1413H, p.(Asp1413His)), CEP290(NM_025114.4):c.4237G>C (p.D1413H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88086456C>G" "" "likely benign" ""
"0000549354" "0" "10" "12" "88480233" "88480233" "subst" "0.0022471" "02326" "CEP290_000330" "g.88480233C>G" "" "" "" "CEP290(NM_025114.3):c.4237G>C (p.D1413H, p.(Asp1413His)), CEP290(NM_025114.4):c.4237G>C (p.D1413H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88086456C>G" "" "benign" ""
"0000549356" "0" "10" "12" "88481664" "88481664" "subst" "2.3525E-5" "02330" "CEP290_000331" "g.88481664G>T" "" "" "" "CEP290(NM_025114.4):c.4087C>A (p.R1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88087887G>T" "" "benign" ""
"0000549358" "0" "50" "12" "88482985" "88482985" "subst" "4.08213E-6" "01804" "CEP290_000333" "g.88482985T>C" "" "" "" "CEP290(NM_025114.3):c.3853A>G (p.(Lys1285Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88089208T>C" "" "VUS" ""
"0000549359" "0" "50" "12" "88483012" "88483012" "subst" "1.62674E-5" "01943" "CEP290_000334" "g.88483012C>T" "" "" "" "CEP290(NM_025114.3):c.3826G>A (p.G1276R), CEP290(NM_025114.4):c.3826G>A (p.(Gly1276Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88089235C>T" "" "VUS" ""
"0000549360" "0" "50" "12" "88483048" "88483048" "subst" "0.000499655" "01943" "CEP290_000335" "g.88483048G>A" "" "" "" "CEP290(NM_025114.3):c.3790C>T (p.R1264C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88089271G>A" "" "VUS" ""
"0000549361" "0" "10" "12" "88483128" "88483128" "subst" "0.0118974" "01804" "CEP290_000267" "g.88483128C>T" "" "" "" "CEP290(NM_025114.3):c.3710G>A (p.(Arg1237His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88089351C>T" "" "benign" ""
"0000549362" "0" "30" "12" "88483184" "88483184" "subst" "0.00151739" "02330" "CEP290_000193" "g.88483184A>G" "" "" "" "CEP290(NM_025114.3):c.3654T>C (p.L1218=), CEP290(NM_025114.4):c.3654T>C (p.L1218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88089407A>G" "" "likely benign" ""
"0000549363" "0" "50" "12" "88484502" "88484502" "subst" "5.5959E-5" "01943" "CEP290_000336" "g.88484502T>C" "" "" "" "CEP290(NM_025114.3):c.3573+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88090725T>C" "" "VUS" ""
"0000549364" "0" "10" "12" "88484613" "88484613" "subst" "0.00168646" "02330" "CEP290_000337" "g.88484613C>T" "" "" "" "CEP290(NM_025114.4):c.3465G>A (p.L1155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88090836C>T" "" "benign" ""
"0000549365" "0" "90" "12" "88486457" "88486457" "subst" "0" "02327" "CEP290_000338" "g.88486457C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88092680C>T" "" "pathogenic" ""
"0000549366" "0" "70" "12" "88486610" "88486610" "subst" "1.24562E-5" "02330" "CEP290_000339" "g.88486610C>T" "" "" "" "CEP290(NM_025114.4):c.3310-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88092833C>T" "" "likely pathogenic" ""
"0000549367" "0" "50" "12" "88487578" "88487578" "subst" "0" "01943" "CEP290_000340" "g.88487578C>T" "" "" "" "CEP290(NM_025114.3):c.3278G>A (p.R1093H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88093801C>T" "" "VUS" ""
"0000549368" "0" "90" "12" "88487688" "88487688" "dup" "0" "02330" "CEP290_000055" "g.88487688dup" "" "" "" "CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88093911dup" "" "pathogenic" ""
"0000549369" "0" "90" "12" "88487688" "88487688" "dup" "0" "01943" "CEP290_000055" "g.88487688dup" "" "" "" "CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88093911dup" "" "pathogenic" ""
"0000549370" "0" "90" "12" "88487688" "88487688" "dup" "0" "02325" "CEP290_000055" "g.88487688dup" "" "" "" "CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88093911dup" "" "pathogenic" ""
"0000549371" "0" "90" "12" "88487688" "88487688" "dup" "0" "02326" "CEP290_000055" "g.88487688dup" "" "" "" "CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88093911dup" "" "pathogenic" ""
"0000549372" "0" "30" "12" "88496626" "88496626" "subst" "0.00173842" "02330" "CEP290_000341" "g.88496626C>T" "" "" "" "CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88102849C>T" "" "likely benign" ""
"0000549373" "0" "50" "12" "88496626" "88496626" "subst" "0.00173842" "01943" "CEP290_000341" "g.88496626C>T" "" "" "" "CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88102849C>T" "" "VUS" ""
"0000549374" "0" "10" "12" "88496672" "88496672" "subst" "0" "02330" "CEP290_000342" "g.88496672G>A" "" "" "" "CEP290(NM_025114.4):c.2934C>T (p.D978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88102895G>A" "" "benign" ""
"0000549375" "0" "30" "12" "88496733" "88496733" "subst" "0.000422937" "01804" "CEP290_000343" "g.88496733G>A" "" "" "" "CEP290(NM_025114.3):c.2873C>T (p.(Ser958Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88102956G>A" "" "likely benign" ""
"0000549376" "0" "90" "12" "88500547" "88500547" "subst" "1.24996E-5" "02330" "CEP290_000344" "g.88500547G>A" "" "" "" "CEP290(NM_025114.4):c.2722C>T (p.R908*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88106770G>A" "" "pathogenic" ""
"0000549377" "0" "50" "12" "88500654" "88500654" "subst" "0.000268632" "01943" "CEP290_000150" "g.88500654G>A" "" "" "" "CEP290(NM_025114.3):c.2615C>T (p.S872L, p.(Ser872Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88106877G>A" "" "VUS" ""
"0000549380" "0" "30" "12" "88500893" "88500897" "dup" "0" "02325" "CEP290_000347" "g.88500893_88500897dup" "" "" "" "CEP290(NM_025114.3):c.2484-8_2484-4dupGTTTT (p.?), CEP290(NM_025114.4):c.2484-8_2484-4dupGTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88107116_88107120dup" "" "likely benign" ""
"0000549381" "0" "30" "12" "88500893" "88500897" "dup" "0" "02326" "CEP290_000347" "g.88500893_88500897dup" "" "" "" "CEP290(NM_025114.3):c.2484-8_2484-4dupGTTTT (p.?), CEP290(NM_025114.4):c.2484-8_2484-4dupGTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88107116_88107120dup" "" "likely benign" ""
"0000549383" "0" "50" "12" "88502880" "88502880" "subst" "0" "01943" "CEP290_000271" "g.88502880G>A" "" "" "" "CEP290(NM_025114.3):c.2446C>T (p.R816C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88109103G>A" "" "VUS" ""
"0000549384" "0" "50" "12" "88505073" "88505073" "subst" "3.84603E-5" "02330" "CEP290_000348" "g.88505073A>G" "" "" "" "CEP290(NM_025114.3):c.2273T>C (p.V758A), CEP290(NM_025114.4):c.2273T>C (p.V758A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88111296A>G" "" "VUS" ""
"0000549385" "0" "50" "12" "88505085" "88505085" "subst" "0" "02330" "CEP290_000349" "g.88505085T>A" "" "" "" "CEP290(NM_025114.4):c.2261A>T (p.E754V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88111308T>A" "" "VUS" ""
"0000549386" "0" "30" "12" "88505477" "88505477" "subst" "1.84003E-5" "01943" "CEP290_000350" "g.88505477A>G" "" "" "" "CEP290(NM_025114.3):c.2211T>C (p.N737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88111700A>G" "" "likely benign" ""
"0000549387" "0" "90" "12" "88505566" "88505570" "dup" "0" "02329" "CEP290_000042" "g.88505566_88505570dup" "" "" "" "CEP290(NM_025114.4):c.2119_2123dupCAGCT (p.T709Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88111789_88111793dup" "" "pathogenic" ""
"0000549388" "0" "30" "12" "88508258" "88508258" "subst" "0.0335273" "01804" "CEP290_000007" "g.88508258T>C" "" "" "" "CEP290(NM_025114.3):c.1991A>G (p.D664G, p.(Asp664Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88114481T>C" "" "likely benign" ""
"0000549390" "0" "10" "12" "88508976" "88508977" "del" "0" "02330" "CEP290_000351" "g.88508976_88508977del" "" "" "" "CEP290(NM_025114.4):c.1825-13_1825-12delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88115199_88115200del" "" "benign" ""
"0000549391" "0" "10" "12" "88508976" "88508977" "del" "0" "02326" "CEP290_000351" "g.88508976_88508977del" "" "" "" "CEP290(NM_025114.4):c.1825-13_1825-12delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88115199_88115200del" "" "benign" ""
"0000549392" "0" "30" "12" "88510795" "88510795" "dup" "0" "02330" "CEP290_000352" "g.88510795dup" "" "" "" "CEP290(NM_025114.4):c.1824+16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88117018dup" "" "likely benign" ""
"0000549393" "0" "30" "12" "88510905" "88510905" "subst" "0.000309424" "02326" "CEP290_000210" "g.88510905G>A" "" "" "" "CEP290(NM_025114.3):c.1729C>T (p.L577=), CEP290(NM_025114.4):c.1729C>T (p.L577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88117128G>A" "" "likely benign" ""
"0000549394" "0" "30" "12" "88510928" "88510928" "subst" "0" "02330" "CEP290_000353" "g.88510928T>C" "" "" "" "CEP290(NM_025114.3):c.1712-6A>G, CEP290(NM_025114.4):c.1712-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88117151T>C" "" "likely benign" ""
"0000549395" "0" "30" "12" "88510928" "88510928" "subst" "0" "01804" "CEP290_000353" "g.88510928T>C" "" "" "" "CEP290(NM_025114.3):c.1712-6A>G, CEP290(NM_025114.4):c.1712-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88117151T>C" "" "likely benign" ""
"0000549396" "0" "90" "12" "88512314" "88512314" "dup" "0" "01943" "CEP290_000354" "g.88512314dup" "" "" "" "CEP290(NM_025114.3):c.1666dupA (p.I556Nfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88118537dup" "" "pathogenic" ""
"0000549397" "0" "90" "12" "88512326" "88512326" "subst" "1.42337E-5" "02327" "CEP290_000033" "g.88512326G>A" "" "" "" "CEP290(NM_025114.3):c.1645C>T (p.R549*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88118549G>A" "" "pathogenic" ""
"0000549398" "0" "50" "12" "88512335" "88512335" "subst" "4.5848E-6" "01943" "CEP290_000355" "g.88512335C>T" "" "" "" "CEP290(NM_025114.3):c.1636G>A (p.E546K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88118558C>T" "" "VUS" ""
"0000549399" "0" "10" "12" "88512352" "88512352" "subst" "0.00187028" "02330" "CEP290_000215" "g.88512352A>G" "" "" "" "CEP290(NM_025114.4):c.1624-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88118575A>G" "" "benign" ""
"0000549400" "0" "30" "12" "88513885" "88513885" "subst" "0.00086176" "01804" "CEP290_000218" "g.88513885G>A" "" "" "" "CEP290(NM_025114.3):c.1522+6C>T (p.(=)), CEP290(NM_025114.4):c.1522+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88120108G>A" "" "likely benign" ""
"0000549401" "0" "50" "12" "88513965" "88513965" "subst" "9.12652E-5" "02330" "CEP290_000356" "g.88513965G>A" "" "" "" "CEP290(NM_025114.4):c.1448C>T (p.T483I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88120188G>A" "" "VUS" ""
"0000549402" "0" "90" "12" "88513993" "88513997" "del" "0" "02329" "CEP290_000027" "g.88513993_88513997del" "" "" "" "CEP290(NM_025114.3):c.1419_1423delAATAA (p.I474Rfs*5), CEP290(NM_025114.4):c.1419_1423delAATAA (p.I474Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88120216_88120220del" "" "pathogenic" ""
"0000549403" "0" "30" "12" "88514786" "88514786" "subst" "0" "01943" "CEP290_000357" "g.88514786T>C" "" "" "" "CEP290(NM_025114.3):c.1347A>G (p.K449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88121009T>C" "" "likely benign" ""
"0000549404" "0" "50" "12" "88519120" "88519120" "subst" "0.000998676" "01943" "CEP290_000226" "g.88519120A>C" "" "" "" "CEP290(NM_025114.3):c.1092T>G (p.I364M, p.(Ile364Met)), CEP290(NM_025114.4):c.1092T>G (p.I364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88125343A>C" "" "VUS" ""
"0000549405" "0" "30" "12" "88519120" "88519120" "subst" "0.000998676" "02326" "CEP290_000226" "g.88519120A>C" "" "" "" "CEP290(NM_025114.3):c.1092T>G (p.I364M, p.(Ile364Met)), CEP290(NM_025114.4):c.1092T>G (p.I364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88125343A>C" "" "likely benign" ""
"0000549406" "0" "30" "12" "88519133" "88519133" "subst" "0.00534552" "02330" "CEP290_000149" "g.88519133C>T" "" "" "" "CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88125356C>T" "" "likely benign" ""
"0000549407" "0" "30" "12" "88519133" "88519133" "subst" "0.00534552" "01804" "CEP290_000149" "g.88519133C>T" "" "" "" "CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88125356C>T" "" "likely benign" ""
"0000549408" "0" "30" "12" "88519133" "88519133" "subst" "0.00534552" "02325" "CEP290_000149" "g.88519133C>T" "" "" "" "CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88125356C>T" "" "likely benign" ""
"0000549409" "0" "30" "12" "88519133" "88519133" "subst" "0.00534552" "02326" "CEP290_000149" "g.88519133C>T" "" "" "" "CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88125356C>T" "" "likely benign" ""
"0000549410" "0" "30" "12" "88520153" "88520153" "subst" "0" "01943" "CEP290_000358" "g.88520153C>T" "" "" "" "CEP290(NM_025114.3):c.1005G>A (p.R335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88126376C>T" "" "likely benign" ""
"0000549411" "0" "10" "12" "88522823" "88522824" "ins" "0.929976" "01943" "CEP290_000359" "g.88522823_88522824insC" "" "" "" "CEP290(NM_025114.3):c.853-12_853-11insG, CEP290(NM_025114.4):c.853-12_853-11insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88129046_88129047insC" "" "benign" ""
"0000549412" "0" "10" "12" "88522823" "88522824" "ins" "0.929976" "02325" "CEP290_000359" "g.88522823_88522824insC" "" "" "" "CEP290(NM_025114.3):c.853-12_853-11insG, CEP290(NM_025114.4):c.853-12_853-11insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88129046_88129047insC" "" "benign" ""
"0000549413" "0" "10" "12" "88522938" "88522940" "dup" "0" "02326" "CEP290_000360" "g.88522938_88522940dup" "" "" "" "CEP290(NM_025114.4):c.853-127_853-125dupTAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88129161_88129163dup" "" "benign" ""
"0000549414" "0" "10" "12" "88523398" "88523398" "subst" "0" "02326" "CEP290_000361" "g.88523398T>C" "" "" "" "CEP290(NM_025114.4):c.852+73A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88129621T>C" "" "benign" ""
"0000549415" "0" "30" "12" "88523494" "88523494" "subst" "0.0137412" "01804" "CEP290_000022" "g.88523494C>G" "" "" "" "CEP290(NM_025114.3):c.829G>C (p.E277Q, p.(Glu277Gln)), CEP290(NM_025114.4):c.829G>C (p.E277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88129717C>G" "" "likely benign" ""
"0000549416" "0" "10" "12" "88523494" "88523494" "subst" "0.0137412" "02327" "CEP290_000022" "g.88523494C>G" "" "" "" "CEP290(NM_025114.3):c.829G>C (p.E277Q, p.(Glu277Gln)), CEP290(NM_025114.4):c.829G>C (p.E277Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88129717C>G" "" "benign" ""
"0000549417" "0" "90" "12" "88523590" "88523591" "del" "0" "02329" "CEP290_000362" "g.88523590_88523591del" "" "" "" "CEP290(NM_025114.4):c.734_735delAG (p.E245Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88129813_88129814del" "" "pathogenic" ""
"0000549418" "0" "90" "12" "88523644" "88523645" "del" "0" "02330" "CEP290_000023" "g.88523644_88523645del" "" "" "" "CEP290(NM_025114.4):c.679_680delGA (p.E227Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88129867_88129868del" "" "pathogenic" ""
"0000549419" "0" "50" "12" "88524150" "88524150" "subst" "4.1061E-6" "01943" "CEP290_000363" "g.88524150A>C" "" "" "" "CEP290(NM_025114.3):c.564T>G (p.D188E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88130373A>C" "" "VUS" ""
"0000549420" "0" "30" "12" "88524152" "88524152" "subst" "0" "01804" "CEP290_000364" "g.88524152C>T" "" "" "" "CEP290(NM_025114.3):c.562G>A (p.(Asp188Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88130375C>T" "" "likely benign" ""
"0000549421" "0" "90" "12" "88530424" "88530424" "del" "0" "02327" "CEP290_000015" "g.88530424del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88136647del" "" "pathogenic" ""
"0000549424" "0" "30" "12" "88530518" "88530518" "subst" "0.000280527" "01943" "CEP290_000366" "g.88530518T>C" "" "" "" "CEP290(NM_025114.3):c.343A>G (p.N115D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88136741T>C" "" "likely benign" ""
"0000549425" "0" "50" "12" "88530520" "88530520" "subst" "0.000162688" "02330" "CEP290_000244" "g.88530520C>T" "" "" "" "CEP290(NM_025114.3):c.341G>A (p.R114H, p.(Arg114His)), CEP290(NM_025114.4):c.341G>A (p.R114H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88136743C>T" "" "VUS" ""
"0000549426" "0" "50" "12" "88533296" "88533296" "subst" "0.000622755" "01943" "CEP290_000276" "g.88533296C>T" "" "" "" "CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88139519C>T" "" "VUS" ""
"0000549427" "0" "30" "12" "88533296" "88533296" "subst" "0.000622755" "02326" "CEP290_000276" "g.88533296C>T" "" "" "" "CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88139519C>T" "" "likely benign" ""
"0000549429" "0" "30" "12" "88533357" "88533357" "dup" "0" "02326" "CEP290_000368" "g.88533357dup" "" "" "" "CEP290(NM_025114.4):c.181-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88139580dup" "" "likely benign" ""
"0000549430" "0" "50" "12" "88534751" "88534751" "subst" "0" "02327" "CEP290_000369" "g.88534751A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88140974A>C" "" "VUS" ""
"0000549431" "0" "10" "12" "88535299" "88535299" "dup" "0" "02326" "CEP290_000370" "g.88535299dup" "" "" "" "CEP290(NM_025114.4):c.-27-188dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88141522dup" "" "benign" ""
"0000614408" "0" "90" "12" "88443066" "88443066" "dup" "0" "02327" "CEP290_000111" "g.88443066dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88049289dup" "" "pathogenic" ""
"0000614409" "0" "50" "12" "88457784" "88457784" "subst" "0" "01943" "CEP290_000379" "g.88457784C>T" "" "" "" "CEP290(NM_025114.3):c.6244G>A (p.A2082T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88064007C>T" "" "VUS" ""
"0000614410" "0" "50" "12" "88472895" "88472895" "subst" "0.000117942" "02325" "CEP290_000319" "g.88472895C>T" "" "" "" "CEP290(NM_025114.3):c.5338G>A (p.V1780I), CEP290(NM_025114.4):c.5338G>A (p.V1780I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88079118C>T" "" "VUS" ""
"0000614411" "0" "50" "12" "88479887" "88479887" "subst" "1.22031E-5" "02325" "CEP290_000380" "g.88479887C>T" "" "" "" "CEP290(NM_025114.4):c.4366G>A (p.A1456T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88086110C>T" "" "VUS" ""
"0000614412" "0" "30" "12" "88479939" "88479939" "subst" "2.46577E-5" "02330" "CEP290_000381" "g.88479939A>C" "" "" "" "CEP290(NM_025114.4):c.4314T>G (p.A1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88086162A>C" "" "likely benign" ""
"0000614413" "0" "90" "12" "88483181" "88483181" "dup" "0" "02327" "CEP290_000382" "g.88483181dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88089404dup" "" "pathogenic" ""
"0000614415" "0" "30" "12" "88496626" "88496626" "subst" "0.00173842" "01804" "CEP290_000341" "g.88496626C>T" "" "" "" "CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88102849C>T" "" "likely benign" ""
"0000614416" "0" "50" "12" "88505628" "88505628" "subst" "0" "01943" "CEP290_000385" "g.88505628T>C" "" "" "" "CEP290(NM_025114.3):c.2060A>G (p.E687G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88111851T>C" "" "VUS" ""
"0000614417" "0" "30" "12" "88510918" "88510918" "subst" "0.000219974" "02330" "CEP290_000211" "g.88510918T>C" "" "" "" "CEP290(NM_025114.4):c.1716A>G (p.L572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88117141T>C" "" "likely benign" ""
"0000614418" "0" "90" "12" "88534780" "88534783" "del" "0" "02325" "CEP290_000387" "g.88534780_88534783del" "" "" "" "CEP290(NM_025114.4):c.133_136delCAAG (p.Q45Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88141003_88141006del" "" "pathogenic" ""
"0000622983" "0" "50" "12" "88462318" "88462318" "subst" "0.000307421" "02325" "CEP290_000178" "g.88462318T>C" "" "" "" "CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88068541T>C" "" "VUS" ""
"0000622984" "0" "90" "12" "88502842" "88502842" "subst" "0" "01943" "CEP290_000383" "g.88502842C>A" "" "" "" "CEP290(NM_025114.3):c.2483+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88109065C>A" "" "pathogenic" ""
"0000622985" "0" "50" "12" "88505073" "88505073" "subst" "3.84603E-5" "01943" "CEP290_000348" "g.88505073A>G" "" "" "" "CEP290(NM_025114.3):c.2273T>C (p.V758A), CEP290(NM_025114.4):c.2273T>C (p.V758A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88111296A>G" "" "VUS" ""
"0000622986" "0" "50" "12" "88505468" "88505468" "subst" "9.85328E-6" "01943" "CEP290_000384" "g.88505468C>G" "" "" "" "CEP290(NM_025114.3):c.2217+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88111691C>G" "" "VUS" ""
"0000622987" "0" "30" "12" "88520123" "88520123" "subst" "0" "01943" "CEP290_000386" "g.88520123A>G" "" "" "" "CEP290(NM_025114.3):c.1035T>C (p.A345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88126346A>G" "" "likely benign" ""
"0000657210" "0" "50" "12" "88477631" "88477631" "subst" "0.000228269" "01804" "CEP290_000394" "g.88477631G>A" "" "" "" "CEP290(NM_025114.3):c.4805C>T (p.(Thr1602Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88083854G>A" "" "VUS" ""
"0000657211" "0" "90" "12" "88479860" "88479860" "subst" "2.03797E-5" "02325" "CEP290_000066" "g.88479860G>A" "" "" "" "CEP290(NM_025114.3):c.4393C>T (p.(Arg1465*)), CEP290(NM_025114.4):c.4393C>T (p.R1465*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88086083G>A" "" "pathogenic" ""
"0000679669" "0" "30" "12" "88453750" "88453750" "subst" "0" "01943" "CEP290_000172" "g.88453750C>T" "" "" "" "CEP290(NM_025114.3):c.6570G>A (p.M2190I), CEP290(NM_025114.4):c.6570G>A (p.(Met2190Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679670" "0" "30" "12" "88472895" "88472895" "subst" "0.000117942" "02326" "CEP290_000319" "g.88472895C>T" "" "" "" "CEP290(NM_025114.3):c.5338G>A (p.V1780I), CEP290(NM_025114.4):c.5338G>A (p.V1780I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679671" "0" "90" "12" "88478545" "88478545" "subst" "8.14936E-6" "02329" "CEP290_000286" "g.88478545G>A" "" "" "" "CEP290(NM_025114.3):c.4522C>T (p.R1508*), CEP290(NM_025114.4):c.4522C>T (p.R1508*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000679672" "0" "30" "12" "88483184" "88483184" "subst" "0.00151739" "02326" "CEP290_000193" "g.88483184A>G" "" "" "" "CEP290(NM_025114.3):c.3654T>C (p.L1218=), CEP290(NM_025114.4):c.3654T>C (p.L1218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679673" "0" "30" "12" "88500893" "88500897" "dup" "0" "01804" "CEP290_000347" "g.88500893_88500897dup" "" "" "" "CEP290(NM_025114.3):c.2484-8_2484-4dupGTTTT (p.?), CEP290(NM_025114.4):c.2484-8_2484-4dupGTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679674" "0" "70" "12" "88502942" "88502942" "del" "0" "01943" "CEP290_000396" "g.88502942del" "" "" "" "CEP290(NM_025114.3):c.2390delA (p.K797Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000679675" "0" "90" "12" "88505095" "88505095" "subst" "0" "02330" "CEP290_000046" "g.88505095G>A" "" "" "" "CEP290(NM_025114.3):c.2251C>T (p.(Arg751Ter)), CEP290(NM_025114.4):c.2251C>T (p.R751*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000679676" "0" "50" "12" "88514835" "88514835" "subst" "0.00131747" "01943" "CEP290_000224" "g.88514835T>C" "" "" "" "CEP290(NM_025114.3):c.1298A>G (p.D433G), CEP290(NM_025114.4):c.1298A>G (p.D433G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000679678" "0" "50" "12" "88530520" "88530520" "subst" "0.000162688" "01804" "CEP290_000244" "g.88530520C>T" "" "" "" "CEP290(NM_025114.3):c.341G>A (p.R114H, p.(Arg114His)), CEP290(NM_025114.4):c.341G>A (p.R114H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691438" "0" "90" "12" "88494960" "88494960" "subst" "0" "02326" "CEP290_000002" "g.88494960T>C" "" "" "" "CEP290(NM_025114.4):c.2991+1655A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000691439" "0" "10" "12" "88508258" "88508258" "subst" "0.0335273" "02327" "CEP290_000007" "g.88508258T>C" "" "" "" "CEP290(NM_025114.3):c.1991A>G (p.D664G, p.(Asp664Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000691440" "0" "30" "12" "88508281" "88508281" "subst" "0" "01804" "CEP290_000397" "g.88508281T>G" "" "" "" "CEP290(NM_025114.3):c.1968A>C (p.(Gln656His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691441" "0" "30" "12" "88508331" "88508331" "subst" "6.11745E-5" "01943" "CEP290_000398" "g.88508331A>G" "" "" "" "CEP290(NM_025114.3):c.1918T>C (p.L640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724266" "0" "50" "12" "88462300" "88462300" "subst" "4.97606E-5" "02329" "CEP290_000177" "g.88462300G>A" "" "" "" "CEP290(NM_025114.3):c.6134C>T (p.(Ser2045Leu)), CEP290(NM_025114.4):c.6134C>T (p.S2045L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724267" "0" "30" "12" "88465114" "88465114" "subst" "0" "01804" "CEP290_000400" "g.88465114T>G" "" "" "" "CEP290(NM_025114.3):c.5968A>C (p.(Lys1990Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724268" "0" "10" "12" "88472911" "88472911" "subst" "0.00351665" "02327" "CEP290_000188" "g.88472911G>A" "" "" "" "CEP290(NM_025114.3):c.5322C>T (p.L1774=, p.(Leu1774Leu)), CEP290(NM_025114.4):c.5322C>T (p.L1774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000724269" "0" "30" "12" "88477630" "88477630" "subst" "0.000868289" "02326" "CEP290_000073" "g.88477630C>T" "" "" "" "CEP290(NM_025114.3):c.4806G>A (p.T1602=), CEP290(NM_025114.4):c.4806G>A (p.T1602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724270" "0" "50" "12" "88478490" "88478490" "subst" "2.44006E-5" "02329" "CEP290_000284" "g.88478490T>A" "" "" "" "CEP290(NM_025114.4):c.4577A>T (p.E1526V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724271" "0" "50" "12" "88480220" "88480220" "subst" "0.000114216" "01943" "CEP290_000329" "g.88480220T>C" "" "" "" "CEP290(NM_025114.3):c.4250A>G (p.Q1417R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724272" "0" "50" "12" "88482980" "88482980" "subst" "8.17521E-6" "01943" "CEP290_000401" "g.88482980G>T" "" "" "" "CEP290(NM_025114.3):c.3858C>A (p.F1286L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724273" "0" "90" "12" "88483027" "88483027" "subst" "8.12691E-6" "02330" "CEP290_000058" "g.88483027G>A" "" "" "" "CEP290(NM_025114.4):c.3811C>T (p.R1271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724274" "0" "50" "12" "88483178" "88483178" "subst" "0.000226778" "01943" "CEP290_000402" "g.88483178C>A" "" "" "" "CEP290(NM_025114.3):c.3660G>T (p.K1220N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724275" "0" "90" "12" "88487688" "88487688" "dup" "0" "02329" "CEP290_000055" "g.88487688dup" "" "" "" "CEP290(NM_025114.3):c.3175dupA (p.I1059Nfs*11), CEP290(NM_025114.4):c.3175dupA (p.I1059Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724276" "0" "30" "12" "88496626" "88496626" "subst" "0.00173842" "02326" "CEP290_000341" "g.88496626C>T" "" "" "" "CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724277" "0" "30" "12" "88500893" "88500897" "dup" "0" "02330" "CEP290_000347" "g.88500893_88500897dup" "" "" "" "CEP290(NM_025114.3):c.2484-8_2484-4dupGTTTT (p.?), CEP290(NM_025114.4):c.2484-8_2484-4dupGTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724278" "0" "50" "12" "88505013" "88505015" "del" "0" "01804" "CEP290_000403" "g.88505013_88505015del" "" "" "" "CEP290(NM_025114.3):c.2332_2334del (p.(Asn778del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724279" "0" "30" "12" "88510905" "88510905" "subst" "0.000309424" "02330" "CEP290_000210" "g.88510905G>A" "" "" "" "CEP290(NM_025114.3):c.1729C>T (p.L577=), CEP290(NM_025114.4):c.1729C>T (p.L577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724280" "0" "50" "12" "88513888" "88513888" "subst" "0" "02327" "CEP290_000404" "g.88513888T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724281" "0" "50" "12" "88513893" "88513893" "subst" "0" "02327" "CEP290_000405" "g.88513893A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724282" "0" "30" "12" "88523489" "88523489" "subst" "0.000242832" "01943" "CEP290_000406" "g.88523489G>A" "" "" "" "CEP290(NM_025114.3):c.834C>T (p.N278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724283" "0" "30" "12" "88523546" "88523546" "subst" "8.29944E-6" "02330" "CEP290_000231" "g.88523546T>C" "" "" "" "CEP290(NM_025114.4):c.777A>G (p.R259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724284" "0" "30" "12" "88523584" "88523584" "subst" "2.047E-5" "02330" "CEP290_000232" "g.88523584C>T" "" "" "" "CEP290(NM_025114.4):c.739G>A (p.V247I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724285" "0" "90" "12" "88523590" "88523591" "del" "0" "02330" "CEP290_000362" "g.88523590_88523591del" "" "" "" "CEP290(NM_025114.4):c.734_735delAG (p.E245Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724286" "0" "90" "12" "88523644" "88523645" "del" "0" "02327" "CEP290_000023" "g.88523644_88523645del" "" "" "" "CEP290(NM_025114.4):c.679_680delGA (p.E227Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724287" "0" "90" "12" "88532948" "88532952" "del" "0" "02327" "CEP290_000407" "g.88532948_88532952del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000805963" "0" "10" "12" "88471554" "88471554" "subst" "0.00114452" "02330" "CEP290_000186" "g.88471554T>C" "" "" "" "CEP290(NM_025114.3):c.5506A>G (p.I1836V), CEP290(NM_025114.4):c.5506A>G (p.I1836V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000805964" "0" "50" "12" "88496749" "88496749" "subst" "0" "01943" "CEP290_000527" "g.88496749C>T" "" "" "" "CEP290(NM_025114.3):c.2857G>A (p.V953I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805965" "0" "50" "12" "88505067" "88505067" "subst" "0" "01943" "CEP290_000528" "g.88505067A>G" "" "" "" "CEP290(NM_025114.3):c.2279T>C (p.F760S, p.(Phe760Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805966" "0" "50" "12" "88512301" "88512301" "subst" "0.000453585" "01943" "CEP290_000212" "g.88512301C>T" "" "" "" "CEP290(NM_025114.3):c.1670G>A (p.R557H), CEP290(NM_025114.4):c.1670G>A (p.R557H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805967" "0" "30" "12" "88514835" "88514835" "subst" "0.00131747" "02326" "CEP290_000224" "g.88514835T>C" "" "" "" "CEP290(NM_025114.3):c.1298A>G (p.D433G), CEP290(NM_025114.4):c.1298A>G (p.D433G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000813763" "2" "90" "12" "88443074" "88443078" "dup" "0" "00000" "CEP290_000529" "g.88443074_88443078dup" "" "{PMID:Xu 2020:31630094}" "" "CEP290 NM_025114: g.92925_92926insAGAAG, c.7332_7333insAGAAG, p.V2445Rfs3" "" "Germline" "yes" "" "0" "" "" "g.88049297_88049301dup" "" "pathogenic" "ACMG"
"0000817364" "0" "50" "12" "88443008" "88443009" "del" "0" "00000" "CEP290_000299" "g.88443008_88443009del" "" "{PMID:Devi 2020:32139166}" "" "CEP290 c.7394_7395delAG, p.E2465VFS*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.88049231_88049232del" "" "VUS" ""
"0000819095" "0" "90" "12" "88443057" "88443060" "dup" "0" "00000" "CEP290_000549" "g.88443057_88443060dup" "" "{PMID:Dineiro 2020:32483926}" "" "CEP290 c.7341_7344dupACTT, p.(Ser2449Thrfs*8)" "heterozygous" "Germline" "?" "" "0" "" "" "g.88049280_88049283dup" "" "pathogenic" "ACMG"
"0000820684" "1" "70" "12" "88443066" "88443066" "dup" "0" "00000" "CEP290_000111" "g.88443066dup" "" "{PMID:Weisschuh 2020:32531858}" "" "CEP290, variant 1: c.2991+1655A>G/p.?, variant 2: c.7341dup/p.L2448Tfs*8" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.88049289dup" "" "likely pathogenic" ""
"0000828756" "0" "90" "12" "88443068" "88443069" "ins" "0" "00000" "CEP290_000575" "g.88443068_88443069insTTCTC" "" "{PMID:Chen 2021:43360855}" "" "CEP290 c.1627G>T(;)7333_7334insAGAAG, V1: c.7333_7334insAGAAG, (p.Val2445GlufsTer3)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.88049291_88049292insTTCTC" "" "pathogenic" "ACMG"
"0000830895" "0" "70" "12" "88443066" "88443066" "dup" "0" "00000" "CEP290_000111" "g.88443066dup" "" "{PMID:Sayer 2006:16682973}" "" "7341-7342insA; L2448fsX2455" "error in annotation, this change should be annotated p.(Leu2448Thrfster8); heterozygous" "Unknown" "?" "" "0" "" "" "g.88049289dup" "" "likely pathogenic" ""
"0000830949" "0" "90" "12" "88443066" "88443066" "dup" "0" "00000" "CEP290_000111" "g.88443066dup" "" "{PMID:Den Hollander 2006:16909394}" "" "c.7341dupA p.Leu2448ThrfsX7" "all frameshifts\' annotations in the paper off by 1 nucleotide" "Germline" "yes" "" "0" "" "" "g.88049289dup" "" "pathogenic" ""
"0000831167" "2" "70" "12" "88443081" "88443084" "dup" "0" "00000" "CEP290_000112" "g.88443081_88443084dup" "" "{PMID:Brancati 2007:17564967}" "" "7321dupCTCT, L2440fsX2456" "error in annotation, this change should be annotated as c.7318_7321dupCTCT and not 7321dupCTCT, protein change L2441SfsX16 and not L2440fsX2456; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.88049304_88049307dup" "" "likely pathogenic" ""
"0000831168" "2" "70" "12" "88443081" "88443084" "dup" "0" "00000" "CEP290_000112" "g.88443081_88443084dup" "" "{PMID:Brancati 2007:17564967}" "" "7321dupCTCT, L2440fsX2456" "error in annotation, this change should be annotated as c.7318_7321dupCTCT and not 7321dupCTCT, protein change L2441SfsX16 and not L2440fsX2456; compound heterozygous" "Germline" "yes" "" "0" "" "" "g.88049304_88049307dup" "" "likely pathogenic" ""
"0000831227" "21" "90" "12" "86988872" "88826736" "del" "0" "00000" "CEP290_000518" "g.86988872_88826736del" "" "{PMID:Molin 2013:23954617}" "" "CEP290 (46,XX.arr12q21.33(86,988,872-88,826,736) 1 hg19)" "12q21 deletion" "Germline" "yes" "" "0" "" "" "g.86595096_88432960del" "" "pathogenic" ""
"0000831237" "21" "90" "12" "88443074" "88443078" "del" "0" "00000" "CEP290_000433" "g.88443074_88443078del" "" "{PMID:Wang 2015:24850569}" "" "CEP290 c.7323_7327delAGAAG, p.Leu2441LeufsX13" "error in annotation, this protein change should be annotated p.(Glu2443Glyfs*11) and not p.(Leu2441Leufs*13)" "Germline" "yes" "" "0" "" "" "g.88049297_88049301del" "" "pathogenic" ""
"0000831984" "0" "70" "12" "88443066" "88443066" "dup" "0" "00000" "CEP290_000111" "g.88443066dup" "" "{PMID:Feldhaus 2020:31734136}" "" "c.2991+1655A>G/c.7341dupA, p.C998*/p.L2448Tfs*8" "heterozygous" "Unknown" "?" "" "0" "" "" "g.88049289dup" "" "likely pathogenic" ""
"0000845839" "2" "70" "12" "88443066" "88443066" "dup" "0" "00000" "CEP290_000111" "g.88443066dup" "" "{PMID:Cideciyan 2011:21245082}" "" "CEP290 c.7341_7342insA, p.L2448fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.88049289dup" "" "likely pathogenic" ""
"0000853539" "0" "30" "12" "88472911" "88472911" "subst" "0.00351665" "02326" "CEP290_000188" "g.88472911G>A" "" "" "" "CEP290(NM_025114.3):c.5322C>T (p.L1774=, p.(Leu1774Leu)), CEP290(NM_025114.4):c.5322C>T (p.L1774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853540" "0" "90" "12" "88478545" "88478545" "subst" "8.14936E-6" "02327" "CEP290_000286" "g.88478545G>A" "" "" "" "CEP290(NM_025114.3):c.4522C>T (p.R1508*), CEP290(NM_025114.4):c.4522C>T (p.R1508*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853541" "0" "50" "12" "88486509" "88486509" "subst" "3.29541E-5" "01943" "CEP290_000596" "g.88486509C>T" "" "" "" "CEP290(NM_025114.3):c.3410G>A (p.R1137Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853542" "0" "30" "12" "88510928" "88510928" "subst" "0" "01943" "CEP290_000353" "g.88510928T>C" "" "" "" "CEP290(NM_025114.3):c.1712-6A>G, CEP290(NM_025114.4):c.1712-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863145" "0" "30" "12" "88449353" "88449353" "del" "0" "01804" "CEP290_000593" "g.88449353del" "" "" "" "CEP290(NM_025114.3):c.6960+1del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863146" "0" "50" "12" "88465111" "88465111" "subst" "0" "01804" "CEP290_000594" "g.88465111T>C" "" "" "" "CEP290(NM_025114.3):c.5971A>G (p.(Lys1991Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863147" "0" "50" "12" "88465156" "88465156" "subst" "8.16793E-6" "01943" "CEP290_000595" "g.88465156C>G" "" "" "" "CEP290(NM_025114.3):c.5926G>C (p.G1976R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863148" "0" "50" "12" "88500654" "88500654" "subst" "0.000268632" "01804" "CEP290_000150" "g.88500654G>A" "" "" "" "CEP290(NM_025114.3):c.2615C>T (p.S872L, p.(Ser872Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863149" "0" "90" "12" "88502942" "88502942" "del" "0" "02327" "CEP290_000396" "g.88502942del" "" "" "" "CEP290(NM_025114.3):c.2390delA (p.K797Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000863150" "0" "50" "12" "88505598" "88505598" "subst" "0.000373692" "01804" "CEP290_000597" "g.88505598G>C" "" "" "" "CEP290(NM_025114.3):c.2090C>G (p.(Ala697Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863151" "0" "90" "12" "88514915" "88514916" "del" "0" "02327" "CEP290_000026" "g.88514915_88514916del" "" "" "" "CEP290(NM_025114.3):c.1219_1220delAT (p.M407Efs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890810" "0" "30" "12" "88443015" "88443015" "subst" "0" "02330" "CEP290_000599" "g.88443015A>G" "" "" "" "CEP290(NM_025114.4):c.7386T>C (p.A2462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890811" "0" "30" "12" "88443036" "88443036" "subst" "4.1159E-6" "02326" "CEP290_000600" "g.88443036T>C" "" "" "" "CEP290(NM_025114.4):c.7365A>G (p.E2455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890812" "0" "50" "12" "88443080" "88443080" "subst" "0" "02326" "CEP290_000601" "g.88443080A>T" "" "" "" "CEP290(NM_025114.4):c.7321T>A (p.L2441I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890813" "0" "50" "12" "88443125" "88443125" "subst" "9.14554E-5" "01804" "CEP290_000161" "g.88443125C>T" "" "" "" "CEP290(NM_025114.3):c.7276G>A (p.(Asp2426Asn)), CEP290(NM_025114.4):c.7276G>A (p.D2426N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890814" "0" "30" "12" "88444154" "88444154" "subst" "0.00113687" "02326" "CEP290_000162" "g.88444154C>A" "" "" "" "CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890815" "0" "50" "12" "88448136" "88448136" "subst" "0.00015246" "01804" "CEP290_000602" "g.88448136G>A" "" "" "" "CEP290(NM_025114.3):c.7015C>T (p.(Arg2339Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890816" "0" "30" "12" "88462300" "88462300" "subst" "4.97606E-5" "01804" "CEP290_000177" "g.88462300G>A" "" "" "" "CEP290(NM_025114.3):c.6134C>T (p.(Ser2045Leu)), CEP290(NM_025114.4):c.6134C>T (p.S2045L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890817" "0" "50" "12" "88462409" "88462409" "subst" "0" "01804" "CEP290_000603" "g.88462409G>A" "" "" "" "CEP290(NM_025114.3):c.6025C>T (p.(Leu2009Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890818" "0" "70" "12" "88465553" "88465553" "subst" "0" "02327" "CEP290_000604" "g.88465553C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000890819" "0" "30" "12" "88472978" "88472978" "subst" "0.000551992" "02326" "CEP290_000321" "g.88472978C>T" "" "" "" "CEP290(NM_025114.4):c.5255G>A (p.R1752Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890820" "0" "30" "12" "88473986" "88473986" "subst" "0.00185222" "02326" "CEP290_000323" "g.88473986T>C" "" "" "" "CEP290(NM_025114.4):c.5199A>G (p.Q1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890821" "0" "30" "12" "88477630" "88477630" "subst" "0.000868289" "02330" "CEP290_000073" "g.88477630C>T" "" "" "" "CEP290(NM_025114.3):c.4806G>A (p.T1602=), CEP290(NM_025114.4):c.4806G>A (p.T1602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890822" "0" "90" "12" "88483062" "88483063" "del" "0" "02326" "CEP290_000605" "g.88483062_88483063del" "" "" "" "CEP290(NM_025114.4):c.3777_3778delAG (p.R1259Sfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890823" "0" "10" "12" "88484613" "88484613" "subst" "0.00168646" "02326" "CEP290_000337" "g.88484613C>T" "" "" "" "CEP290(NM_025114.4):c.3465G>A (p.L1155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000890824" "0" "30" "12" "88510918" "88510918" "subst" "0.000219974" "02326" "CEP290_000211" "g.88510918T>C" "" "" "" "CEP290(NM_025114.4):c.1716A>G (p.L572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890825" "0" "70" "12" "88512259" "88512259" "subst" "0" "01804" "CEP290_000606" "g.88512259C>A" "" "" "" "CEP290(NM_025114.3):c.1711+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000890826" "0" "30" "12" "88524064" "88524064" "subst" "0" "01804" "CEP290_000607" "g.88524064T>C" "" "" "" "CEP290(NM_025114.3):c.650A>G (p.(Gln217Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000896689" "0" "90" "12" "88443068" "88443069" "ins" "0" "00000" "CEP290_000575" "g.88443068_88443069insTTCTC" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "CEP290 c.1627G>T(;)7333_7334insAGAAG; p.(Val2445GlufsTer3)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.88049291_88049292insTTCTC" "" "pathogenic" ""
"0000913962" "0" "30" "12" "88457911" "88457911" "subst" "0.00040645" "02326" "CEP290_000311" "g.88457911A>C" "" "" "" "CEP290(NM_025114.4):c.6136-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913963" "0" "30" "12" "88477749" "88477749" "subst" "0.000489595" "02326" "CEP290_000610" "g.88477749G>A" "" "" "" "CEP290(NM_025114.4):c.4705-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925705" "0" "50" "12" "88465588" "88465588" "subst" "0" "01804" "CEP290_000614" "g.88465588T>C" "" "" "" "CEP290(NM_025114.3):c.5825A>G (p.(Gln1942Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000925706" "0" "30" "12" "88522719" "88522719" "subst" "0" "01804" "CEP290_000615" "g.88522719A>T" "" "" "" "CEP290(NM_025114.3):c.942+4T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930157" "0" "50" "12" "88443061" "88443061" "subst" "6.58209E-5" "02325" "CEP290_000616" "g.88443061T>G" "" "" "" "CEP290(NM_025114.4):c.7340A>C (p.K2447T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000930158" "0" "30" "12" "88444154" "88444154" "subst" "0.00113687" "01804" "CEP290_000162" "g.88444154C>A" "" "" "" "CEP290(NM_025114.3):c.7186G>T (p.D2396Y, p.(Asp2396Tyr)), CEP290(NM_025114.4):c.7186G>T (p.D2396Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930159" "0" "30" "12" "88457793" "88457793" "subst" "0" "01804" "CEP290_000308" "g.88457793G>T" "" "" "" "CEP290(NM_025114.3):c.6235C>A (p.L2079I, p.(Leu2079Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930160" "0" "50" "12" "88462336" "88462336" "subst" "4.40859E-6" "01804" "CEP290_000312" "g.88462336T>C" "" "" "" "CEP290(NM_025114.3):c.6098A>G (p.E2033G, p.(Glu2033Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000930161" "0" "50" "12" "88477682" "88477682" "subst" "0.00013673" "02325" "CEP290_000328" "g.88477682T>C" "" "" "" "CEP290(NM_025114.3):c.4754A>G (p.H1585R), CEP290(NM_025114.4):c.4754A>G (p.(His1585Arg), p.H1585R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000930162" "0" "50" "12" "88482810" "88482810" "subst" "0" "02327" "CEP290_000617" "g.88482810T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000950038" "0" "30" "12" "88442191" "88442191" "subst" "0.000764024" "01804" "CEP290_000620" "g.88442191G>C" "" "" "" "C12orf29(NM_001009894.2):c.970G>C (p.(Asp324His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950039" "0" "50" "12" "88482862" "88482862" "subst" "6.37735E-5" "01804" "CEP290_000332" "g.88482862T>C" "" "" "" "CEP290(NM_025114.3):c.3976A>G (p.(Lys1326Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000950040" "0" "50" "12" "88483212" "88483212" "subst" "1.35314E-5" "01804" "CEP290_000621" "g.88483212G>C" "" "" "" "CEP290(NM_025114.3):c.3626C>G (p.(Ser1209Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000950041" "0" "30" "12" "88510928" "88510928" "subst" "0" "02326" "CEP290_000353" "g.88510928T>C" "" "" "" "CEP290(NM_025114.3):c.1712-6A>G, CEP290(NM_025114.4):c.1712-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950042" "0" "30" "12" "88510942" "88510942" "subst" "0" "02330" "CEP290_000622" "g.88510942C>A" "" "" "" "CEP290(NM_025114.4):c.1712-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950043" "0" "30" "12" "88533262" "88533262" "subst" "0" "02330" "CEP290_000623" "g.88533262A>G" "" "" "" "CEP290(NM_025114.4):c.250+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950044" "0" "50" "12" "88533296" "88533296" "subst" "0.000622755" "01804" "CEP290_000276" "g.88533296C>T" "" "" "" "CEP290(NM_025114.3):c.226G>A (p.A76T, p.(Ala76Thr)), CEP290(NM_025114.4):c.226G>A (p.A76T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000967099" "0" "30" "12" "88454677" "88454677" "subst" "0.000326947" "02330" "CEP290_000628" "g.88454677A>G" "" "" "" "CEP290(NM_025114.4):c.6452T>C (p.L2151S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000967101" "0" "30" "12" "88477749" "88477749" "subst" "0.000489595" "02330" "CEP290_000610" "g.88477749G>A" "" "" "" "CEP290(NM_025114.4):c.4705-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000967102" "0" "50" "12" "88496626" "88496626" "subst" "0.00173842" "02325" "CEP290_000341" "g.88496626C>T" "" "" "" "CEP290(NM_025114.3):c.2980G>A (p.E994K, p.(Glu994Lys)), CEP290(NM_025114.4):c.2980G>A (p.E994K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000967103" "0" "30" "12" "88500489" "88500489" "subst" "8.23784E-6" "01804" "CEP290_000629" "g.88500489T>C" "" "" "" "CEP290(NM_025114.3):c.2780A>G (p.(Glu927Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000967106" "0" "30" "12" "88530520" "88530520" "subst" "0.000162688" "02326" "CEP290_000244" "g.88530520C>T" "" "" "" "CEP290(NM_025114.3):c.341G>A (p.R114H, p.(Arg114His)), CEP290(NM_025114.4):c.341G>A (p.R114H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980495" "0" "90" "12" "88471040" "88471040" "subst" "9.58901E-5" "01804" "CEP290_000088" "g.88471040C>A" "" "" "" "CEP290(NM_025114.3):c.5668G>T (p.(Gly1890*)), CEP290(NM_025114.4):c.5668G>T (p.G1890*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000980496" "0" "50" "12" "88477682" "88477682" "subst" "0.00013673" "01804" "CEP290_000328" "g.88477682T>C" "" "" "" "CEP290(NM_025114.3):c.4754A>G (p.H1585R), CEP290(NM_025114.4):c.4754A>G (p.(His1585Arg), p.H1585R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980497" "0" "50" "12" "88483012" "88483012" "subst" "1.62674E-5" "01804" "CEP290_000334" "g.88483012C>T" "" "" "" "CEP290(NM_025114.3):c.3826G>A (p.G1276R), CEP290(NM_025114.4):c.3826G>A (p.(Gly1276Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980498" "0" "50" "12" "88524191" "88524191" "subst" "0.000186935" "01804" "CEP290_000234" "g.88524191G>T" "" "" "" "CEP290(NM_025114.3):c.523C>A (p.Q175K), CEP290(NM_025114.4):c.523C>A (p.(Gln175Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000353" "0" "30" "12" "88443008" "88443009" "del" "0" "02326" "CEP290_000299" "g.88443008_88443009del" "" "" "" "CEP290(NM_025114.3):c.7394_7395del (p.(Glu2465ValfsTer2)), CEP290(NM_025114.4):c.7394_7395delAG (p.E2465Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000354" "0" "50" "12" "88443133" "88443133" "subst" "0" "01804" "CEP290_000631" "g.88443133T>C" "" "" "" "CEP290(NM_025114.3):c.7268A>G (p.(Glu2423Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000355" "0" "30" "12" "88462318" "88462318" "subst" "0.000307421" "01804" "CEP290_000178" "g.88462318T>C" "" "" "" "CEP290(NM_025114.3):c.6116A>G (p.D2039G, p.(Asp2039Gly)), CEP290(NM_025114.4):c.6116A>G (p.D2039G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000356" "0" "30" "12" "88472911" "88472911" "subst" "0.00351665" "01804" "CEP290_000188" "g.88472911G>A" "" "" "" "CEP290(NM_025114.3):c.5322C>T (p.L1774=, p.(Leu1774Leu)), CEP290(NM_025114.4):c.5322C>T (p.L1774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000357" "0" "90" "12" "88479860" "88479860" "subst" "2.03797E-5" "01804" "CEP290_000066" "g.88479860G>A" "" "" "" "CEP290(NM_025114.3):c.4393C>T (p.(Arg1465*)), CEP290(NM_025114.4):c.4393C>T (p.R1465*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001000358" "0" "50" "12" "88505029" "88505029" "subst" "0" "01804" "CEP290_000632" "g.88505029T>A" "" "" "" "CEP290(NM_025114.3):c.2317A>T (p.(Ser773Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000359" "0" "50" "12" "88505067" "88505067" "subst" "0" "01804" "CEP290_000528" "g.88505067A>G" "" "" "" "CEP290(NM_025114.3):c.2279T>C (p.F760S, p.(Phe760Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000360" "0" "90" "12" "88524986" "88524986" "subst" "0" "01804" "CEP290_000001" "g.88524986G>A" "" "" "" "CEP290(NM_025114.3):c.451C>T (p.R151*, p.(Arg151*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001015020" "0" "90" "12" "88471122" "88471122" "subst" "1.43986E-5" "02329" "CEP290_000133" "g.88471122C>G" "" "" "" "CEP290(NM_025114.4):c.5587-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001026237" "0" "50" "12" "88519133" "88519133" "subst" "0.00534552" "01943" "CEP290_000149" "g.88519133C>T" "" "" "" "CEP290(NM_025114.3):c.1079G>A (p.R360Q, p.(Arg360Gln)), CEP290(NM_025114.4):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039495" "0" "50" "12" "88443094" "88443096" "del" "0" "01804" "CEP290_000113" "g.88443094_88443096del" "" "" "" "CEP290(NM_025114.4):c.7311_7313del (p.(Lys2437del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039496" "0" "50" "12" "88443126" "88443126" "subst" "0" "01804" "CEP290_000635" "g.88443126T>G" "" "" "" "CEP290(NM_025114.4):c.7275A>C (p.(Glu2425Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039497" "0" "30" "12" "88447488" "88447488" "subst" "2.34486E-5" "01804" "CEP290_000304" "g.88447488T>C" "" "" "" "CEP290(NM_025114.3):c.7070A>G (p.E2357G), CEP290(NM_025114.4):c.7070A>G (p.(Glu2357Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039498" "0" "90" "12" "88465601" "88465605" "del" "0" "01804" "CEP290_000095" "g.88465601_88465605del" "" "" "" "CEP290(NM_025114.4):c.5813_5817del (p.(Thr1938Asnfs*16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001039499" "0" "50" "12" "88480176" "88480176" "subst" "0" "01804" "CEP290_000636" "g.88480176C>T" "" "" "" "CEP290(NM_025114.4):c.4294G>A (p.(Ala1432Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039500" "0" "50" "12" "88484533" "88484533" "subst" "0" "01804" "CEP290_000637" "g.88484533G>C" "" "" "" "CEP290(NM_025114.4):c.3545C>G (p.(Ser1182Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039501" "0" "70" "12" "88484537" "88484537" "subst" "0" "01804" "CEP290_000638" "g.88484537C>A" "" "" "" "CEP290(NM_025114.4):c.3541G>T (p.(Glu1181*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001039502" "0" "30" "12" "88500575" "88500575" "subst" "0" "01804" "CEP290_000639" "g.88500575C>T" "" "" "" "CEP290(NM_025114.4):c.2694G>A (p.(Arg898=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039503" "0" "70" "12" "88514053" "88514053" "subst" "0" "01804" "CEP290_000640" "g.88514053C>A" "" "" "" "CEP290(NM_025114.4):c.1360G>T (p.(Gly454*))" "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 C12orf29
## Count = 414
"{{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}}"
"0000247088" "00003986" "10" "91758" "0" "91758" "0" "c.*90780A>T" "r.(=)" "p.(=)" ""
"0000247122" "00003986" "10" "89256" "0" "89256" "0" "c.*88278A>G" "r.(=)" "p.(=)" ""
"0000250500" "00003986" "70" "8196" "0" "8196" "0" "c.*7218del" "r.(?)" "p.(=)" ""
"0000250986" "00003986" "10" "91758" "0" "91758" "0" "c.*90780A>T" "r.(=)" "p.(=)" ""
"0000251062" "00003986" "10" "71097" "0" "71097" "0" "c.*70119A>C" "r.(=)" "p.(=)" ""
"0000251076" "00003986" "10" "71264" "0" "71264" "0" "c.*70286A>G" "r.(=)" "p.(=)" ""
"0000251117" "00003986" "10" "59331" "0" "59331" "0" "c.*58353A>C" "r.(=)" "p.(=)" ""
"0000251520" "00003986" "10" "29978" "0" "29978" "0" "c.*29000A>G" "r.(=)" "p.(=)" ""
"0000251521" "00003986" "10" "41569" "0" "41569" "0" "c.*40591del" "r.(?)" "p.(=)" ""
"0000251522" "00003986" "10" "64205" "0" "64205" "0" "c.*63227A>G" "r.(=)" "p.(=)" ""
"0000251523" "00003986" "10" "66950" "0" "66950" "0" "c.*65972del" "r.(?)" "p.(=)" ""
"0000251524" "00003986" "10" "69550" "0" "69550" "0" "c.*68572del" "r.(?)" "p.(=)" ""
"0000251525" "00003986" "10" "71131" "0" "71131" "0" "c.*70153A>G" "r.(=)" "p.(=)" ""
"0000251526" "00003986" "10" "83796" "0" "83796" "0" "c.*82818del" "r.(?)" "p.(=)" ""
"0000251692" "00003986" "30" "13507" "0" "13507" "0" "c.*12529A>G" "r.(=)" "p.(=)" ""
"0000253464" "00003986" "10" "64412" "0" "64412" "0" "c.*63434A>G" "r.(=)" "p.(=)" ""
"0000253859" "00003986" "10" "42059" "0" "42059" "0" "c.*41081del" "r.(?)" "p.(=)" ""
"0000253860" "00003986" "10" "83793" "0" "83793" "0" "c.*82815A>T" "r.(=)" "p.(=)" ""
"0000254241" "00003986" "30" "41963" "0" "41963" "0" "c.*40985A>G" "r.(=)" "p.(=)" ""
"0000254689" "00003986" "30" "71273" "0" "71273" "0" "c.*70295A>G" "r.(=)" "p.(=)" ""
"0000255278" "00003986" "30" "72836" "0" "72836" "0" "c.*71858A>C" "r.(=)" "p.(=)" ""
"0000256234" "00003986" "50" "1859" "0" "1859" "0" "c.*881A>C" "r.(=)" "p.(=)" ""
"0000256711" "00003986" "50" "45395" "0" "45395" "0" "c.*44417A>C" "r.(=)" "p.(=)" ""
"0000264539" "00003986" "10" "93883" "0" "93883" "0" "c.*92905C>T" "r.(=)" "p.(=)" ""
"0000264540" "00003986" "50" "72789" "0" "72789" "0" "c.*71811C>T" "r.(=)" "p.(=)" ""
"0000264541" "00003986" "10" "72664" "0" "72664" "0" "c.*71686G>A" "r.(=)" "p.(=)" ""
"0000264542" "00003986" "90" "53739" "0" "53739" "0" "c.*52761T>C" "r.(=)" "p.(=)" ""
"0000264543" "00003986" "30" "49548" "0" "49548" "0" "c.*48570T>C" "r.(=)" "p.(=)" ""
"0000264545" "00003986" "50" "38672" "0" "38672" "0" "c.*37694C>T" "r.(=)" "p.(=)" ""
"0000264547" "00003986" "10" "37415" "0" "37415" "0" "c.*36437T>C" "r.(=)" "p.(=)" ""
"0000264548" "00003986" "10" "37370" "0" "37370" "0" "c.*36392T>C" "r.(=)" "p.(=)" ""
"0000264549" "00003986" "30" "37291" "0" "37291" "0" "c.*36313T>A" "r.(=)" "p.(=)" ""
"0000264551" "00003986" "90" "36492" "0" "36492" "0" "c.*35514T>A" "r.(=)" "p.(=)" ""
"0000264552" "00003986" "10" "32981" "0" "32982" "0" "c.*32003_*32004del" "r.(=)" "p.(=)" ""
"0000264553" "00003986" "10" "24021" "0" "24021" "0" "c.*23043T>A" "r.(=)" "p.(=)" ""
"0000264555" "00003986" "10" "15349" "0" "15349" "0" "c.*14371G>A" "r.(=)" "p.(=)" ""
"0000264556" "00003986" "10" "12470" "0" "12470" "0" "c.*11492C>T" "r.(=)" "p.(=)" ""
"0000264557" "00003986" "10" "11544" "0" "11544" "0" "c.*10566T>C" "r.(=)" "p.(=)" ""
"0000264558" "00003986" "10" "8122" "0" "8122" "0" "c.*7144C>T" "r.(=)" "p.(=)" ""
"0000264559" "00003986" "10" "2933" "0" "2933" "0" "c.*1955C>A" "r.(=)" "p.(=)" ""
"0000266672" "00003986" "50" "73614" "0" "73614" "0" "c.*72636T>C" "r.(=)" "p.(=)" ""
"0000266673" "00003986" "10" "63857" "0" "63857" "0" "c.*62879T>C" "r.(=)" "p.(=)" ""
"0000266674" "00003986" "50" "92069" "0" "92069" "0" "c.*91091C>T" "r.(=)" "p.(=)" ""
"0000266677" "00003986" "90" "41806" "0" "41806" "0" "c.*40828G>A" "r.(=)" "p.(=)" ""
"0000266678" "00003986" "10" "31775" "0" "31775" "0" "c.*30797C>T" "r.(=)" "p.(=)" ""
"0000266679" "00003986" "10" "13381" "0" "13381" "0" "c.*12403dup" "r.(?)" "p.(=)" ""
"0000266680" "00003986" "50" "11486" "0" "11486" "0" "c.*10508T>C" "r.(=)" "p.(=)" ""
"0000268097" "00003986" "90" "41806" "0" "41806" "0" "c.*40828G>A" "r.(=)" "p.(=)" ""
"0000268098" "00003986" "90" "36492" "0" "36492" "0" "c.*35514T>A" "r.(=)" "p.(=)" ""
"0000269976" "00003986" "10" "93946" "0" "93946" "0" "c.*92968T>G" "r.(=)" "p.(=)" ""
"0000269977" "00003986" "10" "72805" "0" "72805" "0" "c.*71827C>T" "r.(=)" "p.(=)" ""
"0000269978" "00003986" "10" "72664" "0" "72664" "0" "c.*71686G>A" "r.(=)" "p.(=)" ""
"0000269979" "00003986" "90" "71093" "0" "71093" "0" "c.*70115del" "r.(?)" "p.(=)" ""
"0000269980" "00003986" "30" "71080" "0" "71080" "0" "c.*70102C>T" "r.(=)" "p.(=)" ""
"0000269982" "00003986" "90" "63874" "0" "63874" "0" "c.*62896G>A" "r.(=)" "p.(=)" ""
"0000269984" "00003986" "10" "55558" "0" "55558" "0" "c.*54580T>C" "r.(=)" "p.(=)" ""
"0000269985" "00003986" "10" "55215" "0" "55216" "0" "c.*54237_*54238del" "r.(=)" "p.(=)" ""
"0000269986" "00003986" "10" "55355" "0" "55355" "0" "c.*54377T>C" "r.(=)" "p.(=)" ""
"0000269988" "00003986" "70" "40442" "0" "40442" "0" "c.*39464C>A" "r.(=)" "p.(=)" ""
"0000269989" "00003986" "10" "40411" "0" "40411" "0" "c.*39433T>C" "r.(=)" "p.(=)" ""
"0000269990" "00003986" "10" "38894" "0" "38894" "0" "c.*37916G>C" "r.(=)" "p.(=)" ""
"0000269991" "00003986" "90" "38639" "0" "38639" "0" "c.*37661G>A" "r.(=)" "p.(=)" ""
"0000269992" "00003986" "10" "83841" "0" "83841" "0" "c.*82863del" "r.(?)" "p.(=)" ""
"0000269993" "00003986" "90" "38594" "0" "38594" "0" "c.*37616C>T" "r.(=)" "p.(=)" ""
"0000269994" "00003986" "10" "37291" "0" "37291" "0" "c.*36313T>A" "r.(=)" "p.(=)" ""
"0000269995" "00003986" "90" "35639" "0" "35639" "0" "c.*34661G>A" "r.(=)" "p.(=)" ""
"0000269996" "00003986" "10" "32838" "0" "32838" "0" "c.*31860T>A" "r.(=)" "p.(=)" ""
"0000269997" "00003986" "10" "83031" "0" "83031" "0" "c.*82053C>T" "r.(=)" "p.(=)" ""
"0000269998" "00003986" "10" "31775" "0" "31775" "0" "c.*30797C>T" "r.(=)" "p.(=)" ""
"0000269999" "00003986" "10" "31536" "0" "31536" "0" "c.*30558C>T" "r.(=)" "p.(=)" ""
"0000270000" "00003986" "10" "30333" "0" "30333" "0" "c.*29355T>C" "r.(=)" "p.(=)" ""
"0000270001" "00003986" "10" "29998" "0" "29998" "0" "c.*29020T>C" "r.(=)" "p.(=)" ""
"0000270002" "00003986" "90" "29819" "0" "29819" "0" "c.*28841C>A" "r.(=)" "p.(=)" ""
"0000270003" "00003986" "10" "24021" "0" "24021" "0" "c.*23043T>C" "r.(=)" "p.(=)" ""
"0000270004" "00003986" "90" "8230" "0" "8230" "0" "c.*7252del" "r.(?)" "p.(=)" ""
"0000270005" "00003986" "10" "8068" "0" "8068" "0" "c.*7090T>C" "r.(=)" "p.(=)" ""
"0000270006" "00003986" "10" "6855" "0" "6855" "0" "c.*5877del" "r.(?)" "p.(=)" ""
"0000270007" "00003986" "30" "1904" "0" "1904" "0" "c.*926C>T" "r.(=)" "p.(=)" ""
"0000270008" "00003986" "30" "82273" "0" "82273" "0" "c.*81295C>G" "r.(=)" "p.(=)" ""
"0000273209" "00003986" "90" "73694" "0" "73695" "0" "c.*72716_*72717del" "r.(=)" "p.(=)" ""
"0000273210" "00003986" "90" "72772" "0" "72776" "0" "c.*71794_*71798del" "r.(=)" "p.(=)" ""
"0000273211" "00003986" "90" "72691" "0" "72691" "0" "c.*71713C>A" "r.(=)" "p.(=)" ""
"0000273212" "00003986" "90" "71105" "0" "71105" "0" "c.*70127G>A" "r.(=)" "p.(=)" ""
"0000273214" "00003986" "30" "69684" "0" "69684" "0" "c.*68706G>A" "r.(=)" "p.(=)" ""
"0000273215" "00003986" "30" "67037" "0" "67037" "0" "c.*66059T>C" "r.(=)" "p.(=)" ""
"0000273216" "00003986" "90" "63903" "0" "63911" "0" "c.*62925_*62933del" "r.(=)" "p.(=)" ""
"0000273217" "00003986" "10" "63857" "0" "63857" "0" "c.*62879T>C" "r.(=)" "p.(=)" ""
"0000273218" "00003986" "50" "61623" "0" "61623" "0" "c.*60645T>A" "r.(=)" "p.(=)" ""
"0000273219" "00003986" "10" "91757" "0" "91757" "0" "c.*90779T>A" "r.(=)" "p.(=)" ""
"0000273220" "00003986" "10" "59626" "0" "59626" "0" "c.*58648T>C" "r.(=)" "p.(=)" ""
"0000273221" "00003986" "30" "59357" "0" "59357" "0" "c.*58379T>C" "r.(=)" "p.(=)" ""
"0000273222" "00003986" "30" "59227" "0" "59227" "0" "c.*58249G>A" "r.(=)" "p.(=)" ""
"0000273224" "00003986" "50" "89299" "0" "89299" "0" "c.*88321C>T" "r.(=)" "p.(=)" ""
"0000273225" "00003986" "90" "89273" "0" "89273" "0" "c.*88295G>A" "r.(=)" "p.(=)" ""
"0000273226" "00003986" "50" "40443" "0" "40443" "0" "c.*39465G>A" "r.(=)" "p.(=)" ""
"0000273227" "00003986" "30" "40411" "0" "40411" "0" "c.*39433T>C" "r.(=)" "p.(=)" ""
"0000273228" "00003986" "50" "38957" "0" "38957" "0" "c.*37979G>A" "r.(=)" "p.(=)" ""
"0000273229" "00003986" "90" "83765" "0" "83765" "0" "c.*82787G>A" "r.(=)" "p.(=)" ""
"0000273230" "00003986" "90" "37324" "0" "37324" "0" "c.*36346G>A" "r.(=)" "p.(=)" ""
"0000273231" "00003986" "30" "37244" "0" "37244" "0" "c.*36266T>G" "r.(=)" "p.(=)" ""
"0000273232" "00003986" "90" "36492" "0" "36492" "0" "c.*35514T>A" "r.(=)" "p.(=)" ""
"0000273233" "00003986" "30" "36409" "0" "36409" "0" "c.*35431C>T" "r.(=)" "p.(=)" ""
"0000273234" "00003986" "50" "83149" "0" "83149" "0" "c.*82171T>C" "r.(=)" "p.(=)" ""
"0000273235" "00003986" "30" "83114" "0" "83114" "0" "c.*82136C>T" "r.(=)" "p.(=)" ""
"0000273236" "00003986" "50" "32837" "0" "32837" "0" "c.*31859C>A" "r.(=)" "p.(=)" ""
"0000273237" "00003986" "50" "82970" "0" "82970" "0" "c.*81992G>T" "r.(=)" "p.(=)" ""
"0000273238" "00003986" "30" "31690" "0" "31690" "0" "c.*30712G>A" "r.(=)" "p.(=)" ""
"0000273239" "00003986" "30" "29826" "0" "29826" "0" "c.*28848T>C" "r.(=)" "p.(=)" ""
"0000273240" "00003986" "50" "21097" "0" "21097" "0" "c.*20119T>C" "r.(=)" "p.(=)" ""
"0000273242" "00003986" "30" "2933" "0" "2933" "0" "c.*1955C>A" "r.(=)" "p.(=)" ""
"0000273243" "00003986" "50" "82380" "0" "82380" "0" "c.*81402T>C" "r.(=)" "p.(=)" ""
"0000273244" "00003986" "30" "82273" "0" "82273" "0" "c.*81295C>G" "r.(=)" "p.(=)" ""
"0000273245" "00003986" "30" "93765" "0" "93765" "0" "c.*92787G>A" "r.(=)" "p.(=)" ""
"0000323004" "00003986" "50" "923" "0" "923" "0" "c.923dup" "r.(?)" "p.(Leu308PhefsTer5)" ""
"0000323005" "00003986" "50" "1873" "0" "1875" "0" "c.*895_*897dup" "r.(=)" "p.(=)" ""
"0000323006" "00003986" "50" "6211" "0" "6211" "0" "c.*5233G>A" "r.(=)" "p.(=)" ""
"0000323007" "00003986" "50" "8230" "0" "8230" "0" "c.*7252dup" "r.(?)" "p.(=)" ""
"0000323008" "00003986" "50" "12529" "0" "12529" "0" "c.*11551C>T" "r.(=)" "p.(=)" ""
"0000323009" "00003986" "30" "13507" "0" "13507" "0" "c.*12529A>G" "r.(=)" "p.(=)" ""
"0000323011" "00003986" "50" "23863" "0" "23863" "0" "c.*22885T>C" "r.(=)" "p.(=)" ""
"0000323015" "00003986" "50" "55422" "0" "55422" "0" "c.*54444T>C" "r.(=)" "p.(=)" ""
"0000323019" "00003986" "50" "63874" "0" "63874" "0" "c.*62896G>A" "r.(=)" "p.(=)" ""
"0000323021" "00003986" "30" "71264" "0" "71264" "0" "c.*70286A>G" "r.(=)" "p.(=)" ""
"0000323022" "00003986" "50" "72756" "0" "72756" "0" "c.*71778A>G" "r.(=)" "p.(=)" ""
"0000323024" "00003986" "50" "77899" "0" "77899" "0" "c.*76921A>C" "r.(=)" "p.(=)" ""
"0000323025" "00003986" "50" "78974" "0" "78974" "0" "c.*77996A>T" "r.(=)" "p.(=)" ""
"0000323027" "00003986" "50" "82264" "0" "82264" "0" "c.*81286G>A" "r.(=)" "p.(=)" ""
"0000338843" "00003986" "10" "13381" "0" "13381" "0" "c.*12403dup" "r.(?)" "p.(=)" ""
"0000338845" "00003986" "10" "83793" "0" "83793" "0" "c.*82815A>T" "r.(=)" "p.(=)" ""
"0000340504" "00003986" "10" "40411" "0" "40411" "0" "c.*39433T>C" "r.(=)" "p.(=)" ""
"0000341553" "00003986" "10" "64412" "0" "64412" "0" "c.*63434A>G" "r.(=)" "p.(=)" ""
"0000341590" "00003986" "50" "92075" "0" "92075" "0" "c.*91097C>T" "r.(=)" "p.(=)" ""
"0000341803" "00003986" "10" "41907" "0" "41907" "0" "c.*40929C>T" "r.(=)" "p.(=)" ""
"0000341873" "00003986" "50" "40467" "0" "40467" "0" "c.*39489G>A" "r.(=)" "p.(=)" ""
"0000341942" "00003986" "90" "38639" "0" "38639" "0" "c.*37661G>A" "r.(=)" "p.(=)" ""
"0000342081" "00003986" "10" "31775" "0" "31775" "0" "c.*30797C>T" "r.(=)" "p.(=)" ""
"0000342297" "00003986" "50" "12471" "0" "12471" "0" "c.*11493G>A" "r.(=)" "p.(=)" ""
"0000342727" "00003986" "30" "77912" "0" "77912" "0" "c.*76934C>T" "r.(=)" "p.(=)" ""
"0000343031" "00003986" "90" "72679" "0" "72682" "0" "c.*71701_*71704del" "r.(=)" "p.(=)" ""
"0000343338" "00003986" "90" "63874" "0" "63874" "0" "c.*62896G>A" "r.(=)" "p.(=)" ""
"0000343394" "00003986" "50" "61659" "0" "61659" "0" "c.*60681G>A" "r.(=)" "p.(=)" ""
"0000344097" "00003986" "50" "73614" "0" "73614" "0" "c.*72636T>C" "r.(=)" "p.(=)" ""
"0000344592" "00003986" "90" "35639" "0" "35639" "0" "c.*34661G>A" "r.(=)" "p.(=)" ""
"0000344682" "00003986" "90" "6289" "0" "6289" "0" "c.*5311G>A" "r.(=)" "p.(=)" ""
"0000344899" "00003986" "90" "71069" "0" "71069" "0" "c.*70091G>A" "r.(=)" "p.(=)" ""
"0000345284" "00003986" "70" "1856" "0" "1856" "0" "c.*878C>A" "r.(=)" "p.(=)" ""
"0000345818" "00003986" "90" "29819" "0" "29819" "0" "c.*28841C>A" "r.(=)" "p.(=)" ""
"0000346411" "00003986" "50" "12552" "0" "12552" "0" "c.*11574G>A" "r.(=)" "p.(=)" ""
"0000346872" "00003986" "50" "41739" "0" "41739" "0" "c.*40761A>C" "r.(=)" "p.(=)" ""
"0000347429" "00003986" "90" "36492" "0" "36492" "0" "c.*35514T>A" "r.(=)" "p.(=)" ""
"0000347522" "00003986" "50" "78978" "0" "78978" "0" "c.*78000T>C" "r.(=)" "p.(=)" ""
"0000347659" "00003986" "10" "59626" "0" "59626" "0" "c.*58648T>C" "r.(=)" "p.(=)" ""
"0000349361" "00003986" "50" "13510" "0" "13510" "0" "c.*12532G>T" "r.(=)" "p.(=)" ""
"0000350778" "00003986" "90" "13551" "0" "13560" "0" "c.*12573_*12582del" "r.(=)" "p.(=)" ""
"0000351400" "00003986" "10" "15228" "0" "15228" "0" "c.*14250T>A" "r.(=)" "p.(=)" ""
"0000351401" "00003986" "10" "29760" "0" "29760" "0" "c.*28782G>T" "r.(=)" "p.(=)" ""
"0000351402" "00003986" "90" "29901" "0" "29901" "0" "c.*28923C>G" "r.(=)" "p.(=)" ""
"0000351405" "00003986" "90" "53739" "0" "53739" "0" "c.*52761T>C" "r.(=)" "p.(=)" ""
"0000351411" "00003986" "10" "94461" "0" "94461" "0" "c.*93483C>A" "r.(=)" "p.(=)" ""
"0000549305" "00003986" "30" "1730" "0" "1730" "0" "c.*752T>C" "r.(=)" "p.(=)" ""
"0000549306" "00003986" "50" "1787" "0" "1788" "0" "c.*809_*810del" "r.(=)" "p.(=)" ""
"0000549307" "00003986" "50" "1832" "0" "1832" "0" "c.*854C>A" "r.(=)" "p.(=)" ""
"0000549309" "00003986" "50" "1966" "0" "1966" "0" "c.*988T>G" "r.(=)" "p.(=)" ""
"0000549310" "00003986" "10" "6150" "0" "6150" "0" "c.*5172del" "r.(?)" "p.(=)" ""
"0000549311" "00003986" "30" "6267" "0" "6267" "0" "c.*5289T>C" "r.(=)" "p.(=)" ""
"0000549312" "00003986" "30" "6926" "0" "6926" "0" "c.*5948T>C" "r.(=)" "p.(=)" ""
"0000549313" "00003986" "30" "11416" "0" "11416" "0" "c.*10438A>G" "r.(=)" "p.(=)" ""
"0000549314" "00003986" "70" "12471" "0" "12471" "0" "c.*11493G>A" "r.(=)" "p.(=)" ""
"0000549315" "00003986" "50" "12471" "0" "12471" "0" "c.*11493G>A" "r.(=)" "p.(=)" ""
"0000549316" "00003986" "50" "12471" "0" "12471" "0" "c.*11493G>A" "r.(=)" "p.(=)" ""
"0000549317" "00003986" "50" "12471" "0" "12471" "0" "c.*11493G>A" "r.(=)" "p.(=)" ""
"0000549319" "00003986" "30" "12541" "0" "12541" "0" "c.*11563A>C" "r.(=)" "p.(=)" ""
"0000549320" "00003986" "10" "13381" "0" "13381" "0" "c.*12403dup" "r.(?)" "p.(=)" ""
"0000549321" "00003986" "30" "13507" "0" "13507" "0" "c.*12529A>G" "r.(=)" "p.(=)" ""
"0000549322" "00003986" "30" "16572" "0" "16572" "0" "c.*15594G>T" "r.(=)" "p.(=)" ""
"0000549323" "00003986" "10" "16645" "0" "16645" "0" "c.*15667A>G" "r.(=)" "p.(=)" ""
"0000549324" "00003986" "50" "16665" "0" "16665" "0" "c.*15687C>G" "r.(=)" "p.(=)" ""
"0000549325" "00003986" "10" "16690" "0" "16690" "0" "c.*15712A>C" "r.(=)" "p.(=)" ""
"0000549326" "00003986" "50" "21115" "0" "21115" "0" "c.*20137T>C" "r.(=)" "p.(=)" ""
"0000549328" "00003986" "50" "21179" "0" "21179" "0" "c.*20201C>A" "r.(=)" "p.(=)" ""
"0000549329" "00003986" "50" "21181" "0" "21181" "0" "c.*20203C>T" "r.(=)" "p.(=)" ""
"0000549330" "00003986" "30" "23956" "0" "23956" "0" "c.*22978T>C" "r.(=)" "p.(=)" ""
"0000549332" "00003986" "50" "30256" "0" "30256" "0" "c.*29278T>G" "r.(=)" "p.(=)" ""
"0000549333" "00003986" "10" "30333" "0" "30333" "0" "c.*29355T>C" "r.(=)" "p.(=)" ""
"0000549334" "00003986" "90" "31668" "0" "31668" "0" "c.*30690G>A" "r.(=)" "p.(=)" ""
"0000549335" "00003986" "50" "31674" "0" "31674" "0" "c.*30696C>T" "r.(=)" "p.(=)" ""
"0000549336" "00003986" "50" "31688" "0" "31688" "0" "c.*30710T>C" "r.(=)" "p.(=)" ""
"0000549338" "00003986" "30" "31775" "0" "31775" "0" "c.*30797C>T" "r.(=)" "p.(=)" ""
"0000549339" "00003986" "10" "31808" "0" "31808" "0" "c.*30830dup" "r.(?)" "p.(=)" ""
"0000549340" "00003986" "10" "31808" "0" "31808" "0" "c.*30830dup" "r.(?)" "p.(=)" ""
"0000549341" "00003986" "10" "32765" "0" "32765" "0" "c.*31787T>C" "r.(=)" "p.(=)" ""
"0000549342" "00003986" "50" "32809" "0" "32809" "0" "c.*31831G>C" "r.(=)" "p.(=)" ""
"0000549343" "00003986" "30" "32909" "0" "32909" "0" "c.*31931C>T" "r.(=)" "p.(=)" ""
"0000549344" "00003986" "30" "35783" "0" "35783" "0" "c.*34805A>G" "r.(=)" "p.(=)" ""
"0000549345" "00003986" "50" "36461" "0" "36461" "0" "c.*35483T>C" "r.(=)" "p.(=)" ""
"0000549347" "00003986" "90" "36511" "0" "36511" "0" "c.*35533C>A" "r.(=)" "p.(=)" ""
"0000549348" "00003986" "90" "37189" "0" "37191" "0" "c.*36211_*36213del" "r.(=)" "p.(=)" ""
"0000549350" "00003986" "30" "37415" "0" "37415" "0" "c.*36437T>C" "r.(=)" "p.(=)" ""
"0000549351" "00003986" "30" "39012" "0" "39012" "0" "c.*38034C>G" "r.(=)" "p.(=)" ""
"0000549352" "00003986" "50" "39012" "0" "39012" "0" "c.*38034C>G" "r.(=)" "p.(=)" ""
"0000549353" "00003986" "30" "39012" "0" "39012" "0" "c.*38034C>G" "r.(=)" "p.(=)" ""
"0000549354" "00003986" "10" "39012" "0" "39012" "0" "c.*38034C>G" "r.(=)" "p.(=)" ""
"0000549356" "00003986" "10" "40443" "0" "40443" "0" "c.*39465G>T" "r.(=)" "p.(=)" ""
"0000549358" "00003986" "50" "41764" "0" "41764" "0" "c.*40786T>C" "r.(=)" "p.(=)" ""
"0000549359" "00003986" "50" "41791" "0" "41791" "0" "c.*40813C>T" "r.(=)" "p.(=)" ""
"0000549360" "00003986" "50" "41827" "0" "41827" "0" "c.*40849G>A" "r.(=)" "p.(=)" ""
"0000549361" "00003986" "10" "41907" "0" "41907" "0" "c.*40929C>T" "r.(=)" "p.(=)" ""
"0000549362" "00003986" "30" "41963" "0" "41963" "0" "c.*40985A>G" "r.(=)" "p.(=)" ""
"0000549363" "00003986" "50" "43281" "0" "43281" "0" "c.*42303T>C" "r.(=)" "p.(=)" ""
"0000549364" "00003986" "10" "43392" "0" "43392" "0" "c.*42414C>T" "r.(=)" "p.(=)" ""
"0000549365" "00003986" "90" "45236" "0" "45236" "0" "c.*44258C>T" "r.(=)" "p.(=)" ""
"0000549366" "00003986" "70" "45389" "0" "45389" "0" "c.*44411C>T" "r.(=)" "p.(=)" ""
"0000549367" "00003986" "50" "46357" "0" "46357" "0" "c.*45379C>T" "r.(=)" "p.(=)" ""
"0000549368" "00003986" "90" "46467" "0" "46467" "0" "c.*45489dup" "r.(?)" "p.(=)" ""
"0000549369" "00003986" "90" "46467" "0" "46467" "0" "c.*45489dup" "r.(?)" "p.(=)" ""
"0000549370" "00003986" "90" "46467" "0" "46467" "0" "c.*45489dup" "r.(?)" "p.(=)" ""
"0000549371" "00003986" "90" "46467" "0" "46467" "0" "c.*45489dup" "r.(?)" "p.(=)" ""
"0000549372" "00003986" "30" "55405" "0" "55405" "0" "c.*54427C>T" "r.(=)" "p.(=)" ""
"0000549373" "00003986" "50" "55405" "0" "55405" "0" "c.*54427C>T" "r.(=)" "p.(=)" ""
"0000549374" "00003986" "10" "55451" "0" "55451" "0" "c.*54473G>A" "r.(=)" "p.(=)" ""
"0000549375" "00003986" "30" "55512" "0" "55512" "0" "c.*54534G>A" "r.(=)" "p.(=)" ""
"0000549376" "00003986" "90" "59326" "0" "59326" "0" "c.*58348G>A" "r.(=)" "p.(=)" ""
"0000549377" "00003986" "50" "59433" "0" "59433" "0" "c.*58455G>A" "r.(=)" "p.(=)" ""
"0000549380" "00003986" "30" "59672" "0" "59676" "0" "c.*58694_*58698dup" "r.(=)" "p.(=)" ""
"0000549381" "00003986" "30" "59672" "0" "59676" "0" "c.*58694_*58698dup" "r.(=)" "p.(=)" ""
"0000549383" "00003986" "50" "61659" "0" "61659" "0" "c.*60681G>A" "r.(=)" "p.(=)" ""
"0000549384" "00003986" "50" "63852" "0" "63852" "0" "c.*62874A>G" "r.(=)" "p.(=)" ""
"0000549385" "00003986" "50" "63864" "0" "63864" "0" "c.*62886T>A" "r.(=)" "p.(=)" ""
"0000549386" "00003986" "30" "64256" "0" "64256" "0" "c.*63278A>G" "r.(=)" "p.(=)" ""
"0000549387" "00003986" "90" "64345" "0" "64349" "0" "c.*63367_*63371dup" "r.(=)" "p.(=)" ""
"0000549388" "00003986" "30" "67037" "0" "67037" "0" "c.*66059T>C" "r.(=)" "p.(=)" ""
"0000549390" "00003986" "10" "67755" "0" "67756" "0" "c.*66777_*66778del" "r.(=)" "p.(=)" ""
"0000549391" "00003986" "10" "67755" "0" "67756" "0" "c.*66777_*66778del" "r.(=)" "p.(=)" ""
"0000549392" "00003986" "30" "69574" "0" "69574" "0" "c.*68596dup" "r.(?)" "p.(=)" ""
"0000549393" "00003986" "30" "69684" "0" "69684" "0" "c.*68706G>A" "r.(=)" "p.(=)" ""
"0000549394" "00003986" "30" "69707" "0" "69707" "0" "c.*68729T>C" "r.(=)" "p.(=)" ""
"0000549395" "00003986" "30" "69707" "0" "69707" "0" "c.*68729T>C" "r.(=)" "p.(=)" ""
"0000549396" "00003986" "90" "71093" "0" "71093" "0" "c.*70115dup" "r.(?)" "p.(=)" ""
"0000549397" "00003986" "90" "71105" "0" "71105" "0" "c.*70127G>A" "r.(=)" "p.(=)" ""
"0000549398" "00003986" "50" "71114" "0" "71114" "0" "c.*70136C>T" "r.(=)" "p.(=)" ""
"0000549399" "00003986" "10" "71131" "0" "71131" "0" "c.*70153A>G" "r.(=)" "p.(=)" ""
"0000549400" "00003986" "30" "72664" "0" "72664" "0" "c.*71686G>A" "r.(=)" "p.(=)" ""
"0000549401" "00003986" "50" "72744" "0" "72744" "0" "c.*71766G>A" "r.(=)" "p.(=)" ""
"0000549402" "00003986" "90" "72772" "0" "72776" "0" "c.*71794_*71798del" "r.(=)" "p.(=)" ""
"0000549403" "00003986" "30" "73565" "0" "73565" "0" "c.*72587T>C" "r.(=)" "p.(=)" ""
"0000549404" "00003986" "50" "77899" "0" "77899" "0" "c.*76921A>C" "r.(=)" "p.(=)" ""
"0000549405" "00003986" "30" "77899" "0" "77899" "0" "c.*76921A>C" "r.(=)" "p.(=)" ""
"0000549406" "00003986" "30" "77912" "0" "77912" "0" "c.*76934C>T" "r.(=)" "p.(=)" ""
"0000549407" "00003986" "30" "77912" "0" "77912" "0" "c.*76934C>T" "r.(=)" "p.(=)" ""
"0000549408" "00003986" "30" "77912" "0" "77912" "0" "c.*76934C>T" "r.(=)" "p.(=)" ""
"0000549409" "00003986" "30" "77912" "0" "77912" "0" "c.*76934C>T" "r.(=)" "p.(=)" ""
"0000549410" "00003986" "30" "78932" "0" "78932" "0" "c.*77954C>T" "r.(=)" "p.(=)" ""
"0000549411" "00003986" "10" "81602" "0" "81603" "0" "c.*80624_*80625insC" "r.(=)" "p.(=)" ""
"0000549412" "00003986" "10" "81602" "0" "81603" "0" "c.*80624_*80625insC" "r.(=)" "p.(=)" ""
"0000549413" "00003986" "10" "81717" "0" "81719" "0" "c.*80739_*80741dup" "r.(=)" "p.(=)" ""
"0000549414" "00003986" "10" "82177" "0" "82177" "0" "c.*81199T>C" "r.(=)" "p.(=)" ""
"0000549415" "00003986" "30" "82273" "0" "82273" "0" "c.*81295C>G" "r.(=)" "p.(=)" ""
"0000549416" "00003986" "10" "82273" "0" "82273" "0" "c.*81295C>G" "r.(=)" "p.(=)" ""
"0000549417" "00003986" "90" "82369" "0" "82370" "0" "c.*81391_*81392del" "r.(=)" "p.(=)" ""
"0000549418" "00003986" "90" "82423" "0" "82424" "0" "c.*81445_*81446del" "r.(=)" "p.(=)" ""
"0000549419" "00003986" "50" "82929" "0" "82929" "0" "c.*81951A>C" "r.(=)" "p.(=)" ""
"0000549420" "00003986" "30" "82931" "0" "82931" "0" "c.*81953C>T" "r.(=)" "p.(=)" ""
"0000549421" "00003986" "90" "89203" "0" "89203" "0" "c.*88225del" "r.(?)" "p.(=)" ""
"0000549424" "00003986" "30" "89297" "0" "89297" "0" "c.*88319T>C" "r.(=)" "p.(=)" ""
"0000549425" "00003986" "50" "89299" "0" "89299" "0" "c.*88321C>T" "r.(=)" "p.(=)" ""
"0000549426" "00003986" "50" "92075" "0" "92075" "0" "c.*91097C>T" "r.(=)" "p.(=)" ""
"0000549427" "00003986" "30" "92075" "0" "92075" "0" "c.*91097C>T" "r.(=)" "p.(=)" ""
"0000549429" "00003986" "30" "92136" "0" "92136" "0" "c.*91158dup" "r.(?)" "p.(=)" ""
"0000549430" "00003986" "50" "93530" "0" "93530" "0" "c.*92552A>C" "r.(=)" "p.(=)" ""
"0000549431" "00003986" "10" "94078" "0" "94078" "0" "c.*93100dup" "r.(?)" "p.(=)" ""
"0000614408" "00003986" "90" "1845" "0" "1845" "0" "c.*867dup" "r.(?)" "p.(=)" ""
"0000614409" "00003986" "50" "16563" "0" "16563" "0" "c.*15585C>T" "r.(=)" "p.(=)" ""
"0000614410" "00003986" "50" "31674" "0" "31674" "0" "c.*30696C>T" "r.(=)" "p.(=)" ""
"0000614411" "00003986" "50" "38666" "0" "38666" "0" "c.*37688C>T" "r.(=)" "p.(=)" ""
"0000614412" "00003986" "30" "38718" "0" "38718" "0" "c.*37740A>C" "r.(=)" "p.(=)" ""
"0000614413" "00003986" "90" "41960" "0" "41960" "0" "c.*40982dup" "r.(?)" "p.(=)" ""
"0000614415" "00003986" "30" "55405" "0" "55405" "0" "c.*54427C>T" "r.(=)" "p.(=)" ""
"0000614416" "00003986" "50" "64407" "0" "64407" "0" "c.*63429T>C" "r.(=)" "p.(=)" ""
"0000614417" "00003986" "30" "69697" "0" "69697" "0" "c.*68719T>C" "r.(=)" "p.(=)" ""
"0000614418" "00003986" "90" "93559" "0" "93562" "0" "c.*92581_*92584del" "r.(=)" "p.(=)" ""
"0000622983" "00003986" "50" "21097" "0" "21097" "0" "c.*20119T>C" "r.(=)" "p.(=)" ""
"0000622984" "00003986" "90" "61621" "0" "61621" "0" "c.*60643C>A" "r.(=)" "p.(=)" ""
"0000622985" "00003986" "50" "63852" "0" "63852" "0" "c.*62874A>G" "r.(=)" "p.(=)" ""
"0000622986" "00003986" "50" "64247" "0" "64247" "0" "c.*63269C>G" "r.(=)" "p.(=)" ""
"0000622987" "00003986" "30" "78902" "0" "78902" "0" "c.*77924A>G" "r.(=)" "p.(=)" ""
"0000657210" "00003986" "50" "36410" "0" "36410" "0" "c.*35432G>A" "r.(=)" "p.(=)" ""
"0000657211" "00003986" "90" "38639" "0" "38639" "0" "c.*37661G>A" "r.(=)" "p.(=)" ""
"0000679669" "00003986" "30" "12529" "0" "12529" "0" "c.*11551C>T" "r.(=)" "p.(=)" ""
"0000679670" "00003986" "30" "31674" "0" "31674" "0" "c.*30696C>T" "r.(=)" "p.(=)" ""
"0000679671" "00003986" "90" "37324" "0" "37324" "0" "c.*36346G>A" "r.(=)" "p.(=)" ""
"0000679672" "00003986" "30" "41963" "0" "41963" "0" "c.*40985A>G" "r.(=)" "p.(=)" ""
"0000679673" "00003986" "30" "59672" "0" "59676" "0" "c.*58694_*58698dup" "r.(=)" "p.(=)" ""
"0000679674" "00003986" "70" "61721" "0" "61721" "0" "c.*60743del" "r.(?)" "p.(=)" ""
"0000679675" "00003986" "90" "63874" "0" "63874" "0" "c.*62896G>A" "r.(=)" "p.(=)" ""
"0000679676" "00003986" "50" "73614" "0" "73614" "0" "c.*72636T>C" "r.(=)" "p.(=)" ""
"0000679678" "00003986" "50" "89299" "0" "89299" "0" "c.*88321C>T" "r.(=)" "p.(=)" ""
"0000691438" "00003986" "90" "53739" "0" "53739" "0" "c.*52761T>C" "r.(=)" "p.(=)" ""
"0000691439" "00003986" "10" "67037" "0" "67037" "0" "c.*66059T>C" "r.(=)" "p.(=)" ""
"0000691440" "00003986" "30" "67060" "0" "67060" "0" "c.*66082T>G" "r.(=)" "p.(=)" ""
"0000691441" "00003986" "30" "67110" "0" "67110" "0" "c.*66132A>G" "r.(=)" "p.(=)" ""
"0000724266" "00003986" "50" "21079" "0" "21079" "0" "c.*20101G>A" "r.(=)" "p.(=)" ""
"0000724267" "00003986" "30" "23893" "0" "23893" "0" "c.*22915T>G" "r.(=)" "p.(=)" ""
"0000724268" "00003986" "10" "31690" "0" "31690" "0" "c.*30712G>A" "r.(=)" "p.(=)" ""
"0000724269" "00003986" "30" "36409" "0" "36409" "0" "c.*35431C>T" "r.(=)" "p.(=)" ""
"0000724270" "00003986" "50" "37269" "0" "37269" "0" "c.*36291T>A" "r.(=)" "p.(=)" ""
"0000724271" "00003986" "50" "38999" "0" "38999" "0" "c.*38021T>C" "r.(=)" "p.(=)" ""
"0000724272" "00003986" "50" "41759" "0" "41759" "0" "c.*40781G>T" "r.(=)" "p.(=)" ""
"0000724273" "00003986" "90" "41806" "0" "41806" "0" "c.*40828G>A" "r.(=)" "p.(=)" ""
"0000724274" "00003986" "50" "41957" "0" "41957" "0" "c.*40979C>A" "r.(=)" "p.(=)" ""
"0000724275" "00003986" "90" "46467" "0" "46467" "0" "c.*45489dup" "r.(?)" "p.(=)" ""
"0000724276" "00003986" "30" "55405" "0" "55405" "0" "c.*54427C>T" "r.(=)" "p.(=)" ""
"0000724277" "00003986" "30" "59672" "0" "59676" "0" "c.*58694_*58698dup" "r.(=)" "p.(=)" ""
"0000724278" "00003986" "50" "63792" "0" "63794" "0" "c.*62814_*62816del" "r.(=)" "p.(=)" ""
"0000724279" "00003986" "30" "69684" "0" "69684" "0" "c.*68706G>A" "r.(=)" "p.(=)" ""
"0000724280" "00003986" "50" "72667" "0" "72667" "0" "c.*71689T>A" "r.(=)" "p.(=)" ""
"0000724281" "00003986" "50" "72672" "0" "72672" "0" "c.*71694A>C" "r.(=)" "p.(=)" ""
"0000724282" "00003986" "30" "82268" "0" "82268" "0" "c.*81290G>A" "r.(=)" "p.(=)" ""
"0000724283" "00003986" "30" "82325" "0" "82325" "0" "c.*81347T>C" "r.(=)" "p.(=)" ""
"0000724284" "00003986" "30" "82363" "0" "82363" "0" "c.*81385C>T" "r.(=)" "p.(=)" ""
"0000724285" "00003986" "90" "82369" "0" "82370" "0" "c.*81391_*81392del" "r.(=)" "p.(=)" ""
"0000724286" "00003986" "90" "82423" "0" "82424" "0" "c.*81445_*81446del" "r.(=)" "p.(=)" ""
"0000724287" "00003986" "90" "91727" "0" "91731" "0" "c.*90749_*90753del" "r.(=)" "p.(=)" ""
"0000805963" "00003986" "10" "30333" "0" "30333" "0" "c.*29355T>C" "r.(=)" "p.(=)" ""
"0000805964" "00003986" "50" "55528" "0" "55528" "0" "c.*54550C>T" "r.(=)" "p.(=)" ""
"0000805965" "00003986" "50" "63846" "0" "63846" "0" "c.*62868A>G" "r.(=)" "p.(=)" ""
"0000805966" "00003986" "50" "71080" "0" "71080" "0" "c.*70102C>T" "r.(=)" "p.(=)" ""
"0000805967" "00003986" "30" "73614" "0" "73614" "0" "c.*72636T>C" "r.(=)" "p.(=)" ""
"0000813763" "00003986" "90" "1853" "0" "1857" "0" "c.*875_*879dup" "r.(=)" "p.(=)" ""
"0000817364" "00003986" "50" "1787" "0" "1788" "0" "c.*809_*810del" "r.(=)" "p.(=)" ""
"0000819095" "00003986" "90" "1836" "0" "1839" "0" "c.*858_*861dup" "r.(=)" "p.(=)" ""
"0000820684" "00003986" "70" "1845" "0" "1845" "0" "c.*867dup" "r.(=)" "p.(=)" ""
"0000828756" "00003986" "90" "1847" "0" "1848" "0" "c.*869_*870insTTCTC" "r.(=)" "p.(=)" ""
"0000830895" "00003986" "70" "1845" "0" "1845" "0" "c.*867dup" "r.(=)" "p.(=)" ""
"0000830949" "00003986" "90" "1845" "0" "1845" "0" "c.*867dup" "r.(=)" "p.(=)" ""
"0000831167" "00003986" "70" "1860" "0" "1863" "0" "c.*882_*885dup" "r.(=)" "p.(=)" ""
"0000831168" "00003986" "70" "1860" "0" "1863" "0" "c.*882_*885dup" "r.(=)" "p.(=)" ""
"0000831227" "00003986" "90" "-1440554" "0" "385515" "0" "c.-1440554_*384537del" "r.0?" "p.0?" ""
"0000831237" "00003986" "90" "1853" "0" "1857" "0" "c.*875_*879del" "r.(=)" "p.(=)" ""
"0000831984" "00003986" "70" "1845" "0" "1845" "0" "c.*867dup" "r.(=)" "p.(=)" ""
"0000845839" "00003986" "70" "1845" "0" "1845" "0" "c.*867dup" "r.(=)" "p.(=)" ""
"0000853539" "00003986" "30" "31690" "0" "31690" "0" "c.*30712G>A" "r.(=)" "p.(=)" ""
"0000853540" "00003986" "90" "37324" "0" "37324" "0" "c.*36346G>A" "r.(=)" "p.(=)" ""
"0000853541" "00003986" "50" "45288" "0" "45288" "0" "c.*44310C>T" "r.(=)" "p.(=)" ""
"0000853542" "00003986" "30" "69707" "0" "69707" "0" "c.*68729T>C" "r.(=)" "p.(=)" ""
"0000863145" "00003986" "30" "8132" "0" "8132" "0" "c.*7154del" "r.(?)" "p.(=)" ""
"0000863146" "00003986" "50" "23890" "0" "23890" "0" "c.*22912T>C" "r.(=)" "p.(=)" ""
"0000863147" "00003986" "50" "23935" "0" "23935" "0" "c.*22957C>G" "r.(=)" "p.(=)" ""
"0000863148" "00003986" "50" "59433" "0" "59433" "0" "c.*58455G>A" "r.(=)" "p.(=)" ""
"0000863149" "00003986" "90" "61721" "0" "61721" "0" "c.*60743del" "r.(?)" "p.(=)" ""
"0000863150" "00003986" "50" "64377" "0" "64377" "0" "c.*63399G>C" "r.(=)" "p.(=)" ""
"0000863151" "00003986" "90" "73694" "0" "73695" "0" "c.*72716_*72717del" "r.(=)" "p.(=)" ""
"0000890810" "00003986" "30" "1794" "0" "1794" "0" "c.*816A>G" "r.(=)" "p.(=)" ""
"0000890811" "00003986" "30" "1815" "0" "1815" "0" "c.*837T>C" "r.(=)" "p.(=)" ""
"0000890812" "00003986" "50" "1859" "0" "1859" "0" "c.*881A>T" "r.(=)" "p.(=)" ""
"0000890813" "00003986" "50" "1904" "0" "1904" "0" "c.*926C>T" "r.(=)" "p.(=)" ""
"0000890814" "00003986" "30" "2933" "0" "2933" "0" "c.*1955C>A" "r.(=)" "p.(=)" ""
"0000890815" "00003986" "50" "6915" "0" "6915" "0" "c.*5937G>A" "r.(=)" "p.(=)" ""
"0000890816" "00003986" "30" "21079" "0" "21079" "0" "c.*20101G>A" "r.(=)" "p.(=)" ""
"0000890817" "00003986" "50" "21188" "0" "21188" "0" "c.*20210G>A" "r.(=)" "p.(=)" ""
"0000890818" "00003986" "70" "24332" "0" "24332" "0" "c.*23354C>T" "r.(=)" "p.(=)" ""
"0000890819" "00003986" "30" "31757" "0" "31757" "0" "c.*30779C>T" "r.(=)" "p.(=)" ""
"0000890820" "00003986" "30" "32765" "0" "32765" "0" "c.*31787T>C" "r.(=)" "p.(=)" ""
"0000890821" "00003986" "30" "36409" "0" "36409" "0" "c.*35431C>T" "r.(=)" "p.(=)" ""
"0000890822" "00003986" "90" "41841" "0" "41842" "0" "c.*40863_*40864del" "r.(=)" "p.(=)" ""
"0000890823" "00003986" "10" "43392" "0" "43392" "0" "c.*42414C>T" "r.(=)" "p.(=)" ""
"0000890824" "00003986" "30" "69697" "0" "69697" "0" "c.*68719T>C" "r.(=)" "p.(=)" ""
"0000890825" "00003986" "70" "71038" "0" "71038" "0" "c.*70060C>A" "r.(=)" "p.(=)" ""
"0000890826" "00003986" "30" "82843" "0" "82843" "0" "c.*81865T>C" "r.(=)" "p.(=)" ""
"0000896689" "00003986" "90" "1847" "0" "1848" "0" "c.*869_*870insTTCTC" "r.(=)" "p.(=)" ""
"0000913962" "00003986" "30" "16690" "0" "16690" "0" "c.*15712A>C" "r.(=)" "p.(=)" ""
"0000913963" "00003986" "30" "36528" "0" "36528" "0" "c.*35550G>A" "r.(=)" "p.(=)" ""
"0000925705" "00003986" "50" "24367" "0" "24367" "0" "c.*23389T>C" "r.(=)" "p.(=)" ""
"0000925706" "00003986" "30" "81498" "0" "81498" "0" "c.*80520A>T" "r.(=)" "p.(=)" ""
"0000930157" "00003986" "50" "1840" "0" "1840" "0" "c.*862T>G" "r.(=)" "p.(=)" ""
"0000930158" "00003986" "30" "2933" "0" "2933" "0" "c.*1955C>A" "r.(=)" "p.(=)" ""
"0000930159" "00003986" "30" "16572" "0" "16572" "0" "c.*15594G>T" "r.(=)" "p.(=)" ""
"0000930160" "00003986" "50" "21115" "0" "21115" "0" "c.*20137T>C" "r.(=)" "p.(=)" ""
"0000930161" "00003986" "50" "36461" "0" "36461" "0" "c.*35483T>C" "r.(=)" "p.(=)" ""
"0000930162" "00003986" "50" "41589" "0" "41589" "0" "c.*40611T>A" "r.(=)" "p.(=)" ""
"0000950038" "00003986" "30" "970" "0" "970" "0" "c.970G>C" "r.(?)" "p.(Asp324His)" ""
"0000950039" "00003986" "50" "41641" "0" "41641" "0" "c.*40663T>C" "r.(=)" "p.(=)" ""
"0000950040" "00003986" "50" "41991" "0" "41991" "0" "c.*41013G>C" "r.(=)" "p.(=)" ""
"0000950041" "00003986" "30" "69707" "0" "69707" "0" "c.*68729T>C" "r.(=)" "p.(=)" ""
"0000950042" "00003986" "30" "69721" "0" "69721" "0" "c.*68743C>A" "r.(=)" "p.(=)" ""
"0000950043" "00003986" "30" "92041" "0" "92041" "0" "c.*91063A>G" "r.(=)" "p.(=)" ""
"0000950044" "00003986" "50" "92075" "0" "92075" "0" "c.*91097C>T" "r.(=)" "p.(=)" ""
"0000967099" "00003986" "30" "13456" "0" "13456" "0" "c.*12478A>G" "r.(=)" "p.(=)" ""
"0000967101" "00003986" "30" "36528" "0" "36528" "0" "c.*35550G>A" "r.(=)" "p.(=)" ""
"0000967102" "00003986" "50" "55405" "0" "55405" "0" "c.*54427C>T" "r.(=)" "p.(=)" ""
"0000967103" "00003986" "30" "59268" "0" "59268" "0" "c.*58290T>C" "r.(=)" "p.(=)" ""
"0000967106" "00003986" "30" "89299" "0" "89299" "0" "c.*88321C>T" "r.(=)" "p.(=)" ""
"0000980495" "00003986" "90" "29819" "0" "29819" "0" "c.*28841C>A" "r.(=)" "p.(=)" ""
"0000980496" "00003986" "50" "36461" "0" "36461" "0" "c.*35483T>C" "r.(=)" "p.(=)" ""
"0000980497" "00003986" "50" "41791" "0" "41791" "0" "c.*40813C>T" "r.(=)" "p.(=)" ""
"0000980498" "00003986" "50" "82970" "0" "82970" "0" "c.*81992G>T" "r.(=)" "p.(=)" ""
"0001000353" "00003986" "30" "1787" "0" "1788" "0" "c.*809_*810del" "r.(=)" "p.(=)" ""
"0001000354" "00003986" "50" "1912" "0" "1912" "0" "c.*934T>C" "r.(=)" "p.(=)" ""
"0001000355" "00003986" "30" "21097" "0" "21097" "0" "c.*20119T>C" "r.(=)" "p.(=)" ""
"0001000356" "00003986" "30" "31690" "0" "31690" "0" "c.*30712G>A" "r.(=)" "p.(=)" ""
"0001000357" "00003986" "90" "38639" "0" "38639" "0" "c.*37661G>A" "r.(=)" "p.(=)" ""
"0001000358" "00003986" "50" "63808" "0" "63808" "0" "c.*62830T>A" "r.(=)" "p.(=)" ""
"0001000359" "00003986" "50" "63846" "0" "63846" "0" "c.*62868A>G" "r.(=)" "p.(=)" ""
"0001000360" "00003986" "90" "83765" "0" "83765" "0" "c.*82787G>A" "r.(=)" "p.(=)" ""
"0001015020" "00003986" "90" "29901" "0" "29901" "0" "c.*28923C>G" "r.(=)" "p.(=)" ""
"0001026237" "00003986" "50" "77912" "0" "77912" "0" "c.*76934C>T" "r.(=)" "p.(=)" ""
"0001039495" "00003986" "50" "1873" "0" "1875" "0" "c.*895_*897del" "r.(=)" "p.(=)" ""
"0001039496" "00003986" "50" "1905" "0" "1905" "0" "c.*927T>G" "r.(=)" "p.(=)" ""
"0001039497" "00003986" "30" "6267" "0" "6267" "0" "c.*5289T>C" "r.(=)" "p.(=)" ""
"0001039498" "00003986" "90" "24380" "0" "24384" "0" "c.*23402_*23406del" "r.(=)" "p.(=)" ""
"0001039499" "00003986" "50" "38955" "0" "38955" "0" "c.*37977C>T" "r.(=)" "p.(=)" ""
"0001039500" "00003986" "50" "43312" "0" "43312" "0" "c.*42334G>C" "r.(=)" "p.(=)" ""
"0001039501" "00003986" "70" "43316" "0" "43316" "0" "c.*42338C>A" "r.(=)" "p.(=)" ""
"0001039502" "00003986" "30" "59354" "0" "59354" "0" "c.*58376C>T" "r.(=)" "p.(=)" ""
"0001039503" "00003986" "70" "72832" "0" "72832" "0" "c.*71854C>A" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}" "{{variantid}}"
"0000386273" "0000813763"
"0000388644" "0000817364"
"0000389820" "0000819095"
"0000390284" "0000820684"
"0000397010" "0000828756"
"0000398677" "0000830895"
"0000398715" "0000830949"
"0000398886" "0000831167"
"0000398887" "0000831168"
"0000398925" "0000831227"
"0000398932" "0000831237"
"0000399470" "0000831984"
"0000408851" "0000845839"
"0000421866" "0000896689"