### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RD3)
# 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}}"
"RD3" "retinal degeneration 3" "1" "q32.3" "unknown" "NC_000001.10" "UD_132118228484" "" "https://www.LOVD.nl/RD3" "" "1" "19689" "343035" "180040" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RD3_NM_001164688.1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2024-01-25 18:15:59" "00006" "2024-06-10 15:07:22"
## 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}}"
"00025901" "RD3" "transcript variant 2" "001" "NM_001164688.1" "" "NP_001158160.1" "" "" "" "-1161" "3102" "588" "211666259" "211649864" "00006" "2024-01-25 16:05:21" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25"
"02962" "LCA12" "Leber congenital amaurosis, type 12 (LCA-12)" "AR" "610612" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"RD3" "02962"
## Individuals ## Do not remove or alter this header ##
## Count = 43
"{{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}}"
"00059925" "" "" "" "4" "" "01244" "{PMID:De Castro-Miró 2014:24516651}" "family, 4 patients" "M" "?" "Spain" "" "0" "" "" "" ""
"00077971" "" "" "" "1" "" "01695" "{PMID:Jinda 2014:24618324}" "" "M" "?" "Thailand" "" "0" "" "" "?" ""
"00100088" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKRD141;61141"
"00144156" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" ""
"00144252" "" "" "" "1" "" "01780" "{PMID:Eisenberger 2014:24265693}" "index patient" "M" "no" "Germany" "" "0" "" "" "" ""
"00289682" "" "" "" "53" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00325487" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3580"
"00332185" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB320"
"00332210" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB284"
"00333357" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat6"
"00358919" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected heterozygous carrier parents/relatives" "" "" "China" "" "0" "" "" "Han" "Fam31"
"00372445" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "152"
"00372481" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "159"
"00377519" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE47" "F" "no" "Japan" "" "0" "" "" "Asian" "EYE47"
"00381594" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "?" "Germany" "" "0" "" "" "" ""
"00381942" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "F" "" "Germany" "" "0" "" "" "" "11"
"00385617" "" "" "" "4" "" "00000" "{PMID:de Castro-Miró-2014:24516651}" "" "M" "" "" "" "0" "" "" "" "83RE"
"00386205" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-325"
"00388853" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 59, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "137"
"00388993" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "277"
"00388994" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "278"
"00388995" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 92, Leber congenital amaurosis, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "279"
"00391584" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "Pacific" "83"
"00408919" "" "" "" "1" "" "00000" "{PMID:Friedman-2005:17186464}" "" "" "" "India" "" "0" "" "" "" ""
"00408920" "" "" "" "1" "" "00000" "{PMID:Friedman-2006:17186464}" "" "F" "" "United States" "" "0" "" "" "American" ""
"00408921" "" "" "" "1" "" "00000" "{PMID:Friedman-2006:17186464}" "" "F" "" "United States" "" "0" "" "" "American" ""
"00408922" "" "" "" "1" "" "00000" "{PMID:Friedman-2006:17186464}" "" "F" "" "" "" "0" "" "" "Scandinavian" ""
"00408923" "" "" "" "6" "" "00000" "{PMID:Preising-2012:22531706}" "" "" "yes" "" "" "0" "" "" "Kurdish" "Fam0659: 1,2,4,5,7,10"
"00408924" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "Morocco" "" "0" "" "" "" "NEM1/II1"
"00408925" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "Morocco" "" "0" "" "" "" "NEM2/II1"
"00408926" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "" "" "0" "" "" "" "NEM2/II2"
"00408927" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "Lebanon" "" "0" "" "" "" "NEM3/II2"
"00408928" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "" "" "0" "" "" "" "NEM3/II3"
"00408929" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "M" "yes" "" "" "0" "" "" "" "NEM3/II4"
"00408930" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "Turkey" "" "0" "" "" "" "NEM4/II1"
"00408931" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "Turkey" "" "0" "" "" "" "NEM4/II2"
"00408932" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "Turkey" "" "0" "" "" "" "F16338/LCA59-2-94"
"00408933" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "Algeria" "" "0" "" "" "" "NEM5/II1"
"00408934" "" "" "" "1" "" "00000" "{PMID:perrault-2013:23308101}" "" "F" "yes" "Mexico" "" "0" "" "" "" "FJC/"
"00408935" "" "" "" "1" "" "00000" "{PMID:dikkaya-2020:32083505}" "" "M" "" "" "" "0" "" "" "" ""
"00447651" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-301"
"00447687" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "OAK-745"
"00451541" "" "" "00451539" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "sister" "F" "yes" "Pakistan" "" "0" "" "" "" "FamCPatIV5"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 43
"{{individualid}}" "{{diseaseid}}"
"00059925" "00112"
"00077971" "04214"
"00100088" "00381"
"00144156" "04214"
"00144252" "04214"
"00289682" "00198"
"00325487" "04214"
"00332185" "04214"
"00332210" "04214"
"00333357" "04214"
"00358919" "04214"
"00372445" "04214"
"00372481" "04214"
"00377519" "04214"
"00381594" "04214"
"00381942" "04214"
"00385617" "04214"
"00386205" "04214"
"00388853" "04214"
"00388993" "04214"
"00388994" "04214"
"00388995" "04214"
"00391584" "04214"
"00408919" "04214"
"00408920" "04214"
"00408921" "04214"
"00408922" "04214"
"00408923" "04214"
"00408924" "04214"
"00408925" "04214"
"00408926" "04214"
"00408927" "04214"
"00408928" "04214"
"00408929" "04214"
"00408930" "04214"
"00408931" "04214"
"00408932" "04214"
"00408933" "04214"
"00408934" "04214"
"00408935" "04214"
"00447651" "00198"
"00447687" "00198"
"00451541" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 02962, 04214
## Count = 42
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000046417" "00112" "00059925" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000057746" "04214" "00077971" "01695" "Unknown" "" "retinitis pigmentosa; At 30 years of age: Pink optic disc; generalized RPE changes without macular involvement; moderate bone spicules. Best corrected visual acuity: OD 6/6, OS 6/9." "27y" "" "poor night vision, flashing" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000078327" "00381" "00100088" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000116934" "04214" "00144156" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000117030" "04214" "00144252" "01780" "Familial, autosomal recessive" "" "" "23y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000243974" "04214" "00325487" "00006" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000250372" "04214" "00332185" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250397" "04214" "00332210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000251544" "04214" "00333357" "00000" "Familial, X-linked recessive" "39y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254179" "04214" "00358919" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000267760" "04214" "00372445" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000267796" "04214" "00372481" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000272669" "04214" "00377519" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" ""
"0000275436" "04214" "00381594" "00000" "Familial, autosomal recessive" "" "" "2y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275784" "04214" "00381942" "00000" "Familial, autosomal recessive" "20y" "BCVA OD-OS:light perception; nystagmus; ; cataract" "" "" "" "" "" "" "" "" "Early onset retinal dystrophy" "" ""
"0000279412" "04214" "00385617" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" ""
"0000280008" "04214" "00386205" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy" ""
"0000282394" "04214" "00388853" "00000" "Familial, autosomal recessive" "25y" "age at genetic diagnosis mentioned" "" "20y" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000282534" "04214" "00388993" "00000" "Familial, autosomal recessive" "24y" "age at genetic diagnosis mentioned" "" "17y" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000282535" "04214" "00388994" "00000" "Familial, autosomal recessive" "38y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000282536" "04214" "00388995" "00000" "Familial, autosomal recessive" "33y" "age at genetic diagnosis mentioned" "" "26y" "" "" "" "" "" "" "Leber congenital amaurosis" "" ""
"0000284920" "04214" "00391584" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000301037" "04214" "00408919" "00000" "Familial, autosomal recessive" "" "acular changes with atrophy and spicular pigment in the midperiphery. VA was reduced to 20/200, with central scotoma in both eyes" "" "" "poor vision since birth: nystagmus and atrophic lesions in the macular area, with pigment migration" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301038" "04214" "00408920" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "atypical late-onset form retinitis pigmentosa (RP)" ""
"0000301039" "04214" "00408921" "00000" "Unknown" "" "round atrophic lesions in both maculae, cellophane-like sheen and atrophy in the other regions of the posterior poles. CRD pattern, with cone ERG b-wave amplitudes at about one-third of normal and rod ERG amplitudes at ?80% of normal levels" "3y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000301040" "04214" "00408922" "00000" "Unknown" "" "atrophic lesions in both maculae, and there was a cellophane-like sheen and atrophy in the other regions of the posterior poles
see paper" "6y" "" "visual problems" "" "" "" "" "" "" "cone-rod degeneration with reduced but still-remaining rod and cone function" ""
"0000301041" "04214" "00408923" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)/early onset severe retinal dystrophy (EOSRD)" ""
"0000301042" "04214" "00408924" "00000" "Familial, autosomal recessive" "" "Macular rearrangement, With abnormal macular pigmentation with starshape Diffuse salt and pepper aspect, thin vessels . Nystagmus since birth,no ocular pursuit, altered pupillary reflexes" "2y6m" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301043" "04214" "00408925" "00000" "Familial, autosomal recessive" "" "Nystagmus since birth altered pupillary reflexes, Keratoconus" "31y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301044" "04214" "00408926" "00000" "Familial, autosomal recessive" "" "Nystagmus since birth, altered pupillary reflexes" "27y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301045" "04214" "00408927" "00000" "Familial, autosomal recessive" "" "Salt and pepper retina, thin vessels, marked macular atrophy. Nystagmus at birth, DOSF" "12y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301046" "04214" "00408928" "00000" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301047" "04214" "00408929" "00000" "Familial, autosomal recessive" "" "" "1y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301048" "04214" "00408930" "00000" "Familial, autosomal recessive" "" "Macular rearrangement, thin retinal vessels, dull retina with no pigmentary migrations." "4y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301049" "04214" "00408931" "00000" "Familial, autosomal recessive" "" "Macular rearrangement, thin retinal vessels, dull retina with no pigmentary migrations." "3y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301050" "04214" "00408932" "00000" "Familial, autosomal recessive" "" "Macular atrophy, RPE atrophy with salt and pepper aspect, some bone-spicule pigmentin the mid periphery. Nystagmus since birth, altered papillary reflexes" "17y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301051" "04214" "00408933" "00000" "Familial, autosomal recessive" "" "Macular rearrangement (4 yrs), thin retinal vessels, dull retina with no pigmentarymigrations . Nystagmus since birth, no ocular pursuit, altered pupillary reflexes" "4y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301052" "04214" "00408934" "00000" "Familial, autosomal recessive" "" "" "3y" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000301053" "04214" "00408935" "00000" "Familial, autosomal recessive" "18m" "Welldemarcated central foveal atrophy , perifoveal hyperautofluorescent ring and irregular hyperautofluorescence outside the vascular arcade. An arrest in foveal development and loss of outer retinal structure including outer nuclear layer, external limiting membrane, ellipsoid zone and interdigitation zone at the fovea." "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" ""
"0000336850" "00198" "00447651" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336886" "00198" "00447687" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" ""
"0000340216" "00198" "00451541" "04543" "Familial, autosomal recessive" "36y" "no night vision; no perception light; no nystagmus; corneal haze left eye; no photophobia; bilateral microcornea" "<1y" "" "" "" "" "" "" "" "ODRMD" "Leber congenital amaurosis" ""
## Screenings ## Do not remove or alter this header ##
## Count = 43
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000059912" "00059925" "1" "01244" "01244" "2014-11-25 17:16:23" "" "" "SEQ" "DNA" "" ""
"0000078147" "00077971" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000100491" "00100088" "1" "01769" "01769" "2017-01-30 17:09:38" "" "" "SEQ" "DNA" "WBC" ""
"0000145015" "00144156" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000145111" "00144252" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000290850" "00289682" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000326698" "00325487" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000333405" "00332185" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333430" "00332210" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000334582" "00333357" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000360152" "00358919" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373678" "00372445" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000373714" "00372481" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000378722" "00377519" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing"
"0000382810" "00381594" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000383158" "00381942" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000386846" "00385617" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arraySNP" "DNA" "" "RD-xip"
"0000387434" "00386205" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000390096" "00388853" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper"
"0000390236" "00388993" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390237" "00388994" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper"
"0000390238" "00388995" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000392826" "00391584" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000410184" "00408919" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "RFLP analysis"
"0000410185" "00408920" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "" ""
"0000410186" "00408921" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "" ""
"0000410187" "00408922" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR" "DNA" "" ""
"0000410188" "00408923" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;arraySNP" "DNA" "" ""
"0000410189" "00408924" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410190" "00408925" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410191" "00408926" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410192" "00408927" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410193" "00408928" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410194" "00408929" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410195" "00408930" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410196" "00408931" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410197" "00408932" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410198" "00408933" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410199" "00408934" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;PCR;SSCA" "DNA" "" ""
"0000410200" "00408935" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000449228" "00447651" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449264" "00447687" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000453142" "00451541" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs, WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 35
"{{screeningid}}" "{{geneid}}"
"0000059912" "RD3"
"0000078147" "ABCA4"
"0000100491" "USH2A"
"0000145015" "EYS"
"0000145111" "EYS"
"0000326698" "LRAT"
"0000334582" "RPGR"
"0000360152" "RD3"
"0000373678" "RD3"
"0000373714" "RD3"
"0000382810" "AIPL1"
"0000386846" "RD3"
"0000387434" "CERKL"
"0000390096" "RD3"
"0000390236" "RD3"
"0000390237" "RD3"
"0000390238" "RD3"
"0000392826" "RD3"
"0000410184" "RD3"
"0000410185" "RD3"
"0000410186" "RD3"
"0000410187" "RD3"
"0000410188" "RD3"
"0000410189" "RD3"
"0000410190" "RD3"
"0000410191" "RD3"
"0000410192" "RD3"
"0000410193" "RD3"
"0000410194" "RD3"
"0000410195" "RD3"
"0000410196" "RD3"
"0000410197" "RD3"
"0000410198" "RD3"
"0000410199" "RD3"
"0000410200" "RD3"
## 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 = 69
"{{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}}"
"0000091170" "3" "90" "1" "211654499" "211654499" "subst" "0.000329662" "01244" "RD3_000001" "g.211654499T>C" "" "{PMID:De Castro-Miró 2014:24516651}" "" "" "" "Germline" "yes" "" "0" "" "" "g.211481157T>C" "" "pathogenic" ""
"0000245443" "0" "10" "1" "211654523" "211654523" "subst" "0.00196243" "02330" "RD3_000003" "g.211654523A>G" "" "" "" "RD3(NM_183059.2):c.235T>C (p.L79=), RD3(NM_183059.3):c.235T>C (p.L79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211481181A>G" "" "benign" ""
"0000245475" "0" "10" "1" "211654742" "211654742" "subst" "0.00195552" "02330" "RD3_000007" "g.211654742A>G" "" "" "" "RD3(NM_183059.2):c.16T>C (p.W6R), RD3(NM_183059.3):c.16T>C (p.W6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211481400A>G" "" "benign" ""
"0000294770" "0" "50" "1" "211654770" "211654770" "subst" "0" "02330" "RD3_000008" "g.211654770T>C" "" "" "" "RD3(NM_183059.3):c.-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211481428T>C" "" "VUS" ""
"0000306890" "0" "50" "1" "211654555" "211654555" "subst" "2.84331E-5" "01943" "RD3_000004" "g.211654555C>T" "" "" "" "RD3(NM_183059.2):c.203G>A (p.R68Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211481213C>T" "" "VUS" ""
"0000306891" "0" "10" "1" "211652382" "211652382" "subst" "0.00891994" "01943" "RD3_000002" "g.211652382T>A" "" "" "" "RD3(NM_183059.2):c.584A>T (p.D195V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211479040T>A" "" "benign" ""
"0000321285" "0" "50" "1" "211654689" "211654689" "subst" "0.00192472" "01804" "RD3_000006" "g.211654689C>G" "" "" "" "RD3(NM_001164688.1):c.69G>C (p.(Glu23Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211481347C>G" "" "VUS" ""
"0000505073" "0" "50" "1" "211652397" "211652397" "subst" "0" "02330" "RD3_000009" "g.211652397C>G" "" "" "" "RD3(NM_183059.3):c.569G>C (p.R190P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211479055C>G" "" "VUS" ""
"0000505074" "0" "30" "1" "211652531" "211652531" "subst" "0" "01943" "RD3_000010" "g.211652531C>T" "" "" "" "RD3(NM_183059.2):c.435G>A (p.R145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211479189C>T" "" "likely benign" ""
"0000505075" "0" "10" "1" "211654523" "211654523" "subst" "0.00196243" "01943" "RD3_000003" "g.211654523A>G" "" "" "" "RD3(NM_183059.2):c.235T>C (p.L79=), RD3(NM_183059.3):c.235T>C (p.L79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211481181A>G" "" "benign" ""
"0000505076" "0" "50" "1" "211654556" "211654556" "subst" "0.000268077" "01943" "RD3_000011" "g.211654556G>A" "" "" "" "RD3(NM_183059.2):c.202C>T (p.R68W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211481214G>A" "" "VUS" ""
"0000505077" "0" "10" "1" "211654576" "211654576" "subst" "8.12288E-6" "02330" "RD3_000012" "g.211654576C>T" "" "" "" "RD3(NM_183059.3):c.182G>A (p.S61N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211481234C>T" "" "benign" ""
"0000505078" "0" "30" "1" "211654590" "211654590" "subst" "0.000166533" "02330" "RD3_000013" "g.211654590G>A" "" "" "" "RD3(NM_183059.3):c.168C>T (p.T56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211481248G>A" "" "likely benign" ""
"0000505079" "0" "10" "1" "211654742" "211654742" "subst" "0.00195552" "01943" "RD3_000007" "g.211654742A>G" "" "" "" "RD3(NM_183059.2):c.16T>C (p.W6R), RD3(NM_183059.3):c.16T>C (p.W6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211481400A>G" "" "benign" ""
"0000505080" "0" "30" "1" "211654767" "211654767" "subst" "0" "02330" "RD3_000014" "g.211654767C>A" "" "" "" "RD3(NM_183059.3):c.-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211481425C>A" "" "likely benign" ""
"0000605128" "0" "30" "1" "211654608" "211654608" "subst" "2.03089E-5" "02330" "RD3_000015" "g.211654608C>T" "" "" "" "RD3(NM_183059.3):c.150G>A (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211481266C>T" "" "likely benign" ""
"0000620489" "0" "50" "1" "211654640" "211654640" "subst" "0" "01943" "RD3_000016" "g.211654640C>T" "" "" "" "RD3(NM_183059.2):c.118G>A (p.A40T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211481298C>T" "" "VUS" ""
"0000647539" "1" "10" "1" "211654619" "211654619" "subst" "0.00990079" "03575" "RD3_000017" "g.211654619G>A" "53/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "53 heterozygous, no homozygous; {DB:CLININrs34049451}" "Germline" "" "rs34049451" "0" "" "" "g.211481277G>A" "" "benign" ""
"0000653874" "0" "50" "1" "211652500" "211652500" "subst" "0" "01943" "RD3_000018" "g.211652500G>T" "" "" "" "RD3(NM_183059.2):c.466C>A (p.R156S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211479158G>T" "" "VUS" ""
"0000685834" "1" "90" "1" "211654664" "211654664" "del" "0" "00006" "RD3_000019" "g.211654664del" "" "{PMID:Jinda 2014:24618324}" "" "94_95delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000688007" "0" "30" "1" "211652533" "211652533" "subst" "0.000172649" "01943" "RD3_000020" "g.211652533G>T" "" "" "" "RD3(NM_183059.2):c.433C>A (p.R145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000710368" "1" "50" "1" "211652425" "211652425" "subst" "0" "00006" "RD3_000021" "g.211652425G>C" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.211479083G>C" "" "VUS" ""
"0000731031" "0" "50" "1" "211654742" "211654742" "subst" "0.00195552" "00000" "RD3_000007" "g.211654742A>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs35649846" "0" "" "" "g.211481400A>G" "" "VUS" ""
"0000731032" "0" "50" "1" "211654689" "211654689" "subst" "0.00192472" "00000" "RD3_000006" "g.211654689C>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs34422496" "0" "" "" "g.211481347C>G" "" "VUS" ""
"0000731077" "0" "50" "1" "211654689" "211654689" "subst" "0.00192472" "00000" "RD3_000006" "g.211654689C>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs34422496" "0" "" "" "g.211481347C>G" "" "VUS" ""
"0000731078" "0" "50" "1" "211654742" "211654742" "subst" "0.00195552" "00000" "RD3_000007" "g.211654742A>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs35649846" "0" "" "" "g.211481400A>G" "" "VUS" ""
"0000732475" "0" "50" "1" "211652406" "211652406" "subst" "0" "00000" "RD3_000022" "g.211652406G>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.211479064G>T" "" "VUS" ""
"0000735184" "3" "30" "1" "211652533" "211652533" "subst" "0.000172649" "00000" "RD3_000020" "g.211652533G>T" "" "{PMID:Maranha 2015:26352687}, {DOI:Maranhao 2015:10.1371/journal.pone.0136561}" "" "" "" "Germline" "" "" "0" "" "" "g.211479191G>T" "" "likely benign" ""
"0000759850" "1" "70" "1" "211652620" "211652620" "subst" "0" "00000" "RD3_000023" "g.211652620G>A" "" "{PMID:Wang 2016:27422788}" "" "c.C346T p.Q116X" "" "Germline" "" "" "0" "" "" "g.211479278G>A" "" "likely pathogenic" ""
"0000759879" "2" "70" "1" "211652655" "211652655" "subst" "4.45684E-6" "00000" "RD3_000024" "g.211652655A>G" "" "{PMID:Wang 2016:27422788}" "" "c.T311C p.L104P" "" "Germline" "" "" "0" "" "" "g.211479313A>G" "" "likely pathogenic" ""
"0000783826" "1" "90" "1" "211652516" "211652516" "del" "0" "00000" "RD3_000025" "g.211652516del" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.211479174del" "" "pathogenic" ""
"0000783862" "0" "50" "1" "211652655" "211652655" "subst" "4.45684E-6" "00000" "RD3_000024" "g.211652655A>G" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.211479313A>G" "" "VUS" ""
"0000783923" "2" "90" "1" "211652547" "211652547" "dup" "0" "00000" "RD3_000026" "g.211652547dup" "" "{PMID:Wang 2015:26047050}" "" "418_419insG" "" "Germline" "" "" "0" "" "" "g.211479205dup" "" "pathogenic" ""
"0000788320" "0" "50" "1" "211654669" "211654669" "subst" "4.47194E-5" "00000" "RD3_000027" "g.211654669A>T" "" "{PMID:Katagiri 2014:25268133}" "" "T89A" "" "Germline" "" "" "0" "" "" "g.211481327A>T" "" "VUS" ""
"0000791575" "0" "50" "1" "211481327" "211481327" "subst" "0" "00000" "RD3_000027" "g.211481327A>T" "" "{PMID:Hosono 2018:29844330}" "" "c.89T>A" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "" "0" "" "" "g.211654669A>T" "" "VUS" "ACMG"
"0000796666" "0" "70" "1" "211652382" "211652382" "subst" "0.00891994" "00000" "RD3_000002" "g.211652382T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.584A>T" "" "Germline" "" "rs143207434" "0" "" "" "" "" "likely pathogenic" ""
"0000796786" "0" "70" "1" "211652382" "211652382" "subst" "0.00891994" "00000" "RD3_000002" "g.211652382T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.584A>T" "" "Germline" "" "rs143207434" "0" "" "" "" "" "likely pathogenic" ""
"0000797181" "3" "70" "1" "211654578" "211654578" "subst" "0" "00000" "RD3_000028" "g.211654578G>T" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.180C>A/p.Y60*, allele 2: c.180C>A/p.Y60*" "homozygous" "Germline" "?" "" "0" "" "" "g.211481236G>T" "" "likely pathogenic" "ACMG"
"0000814604" "3" "70" "1" "211654499" "211654499" "subst" "0.000329662" "00000" "RD3_000001" "g.211654499T>C" "" "{PMID:de Castro-Miró-2014:24516651}" "" "c.259A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000815601" "0" "50" "1" "211654499" "211654499" "subst" "0.000329662" "00000" "RD3_000001" "g.211654499T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RD3:NM_183059 c.A259G, p.K87E" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.211481157T>C" "" "VUS" "ACMG"
"0000819441" "1" "70" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "RD3, variant 1: c.112C>T/p.R38*, variant 2: c.112C>T/p.R38*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.211481304G>A" "" "likely pathogenic" ""
"0000819581" "1" "70" "1" "211654578" "211654578" "subst" "0" "00000" "RD3_000028" "g.211654578G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RD3, variant 1: c.180C>A/p.Y60*, variant 2: c.180C>A/p.Y60*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.211481236G>T" "" "likely pathogenic" ""
"0000819582" "1" "70" "1" "211654578" "211654578" "subst" "0" "00000" "RD3_000028" "g.211654578G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RD3, variant 1: c.180C>A/p.Y60*, variant 2: c.180C>A/p.Y60*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.211481236G>T" "" "likely pathogenic" ""
"0000819583" "1" "70" "1" "211654578" "211654578" "subst" "0" "00000" "RD3_000028" "g.211654578G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RD3, variant 1: c.180C>A/p.Y60*, variant 2: c.180C>A/p.Y60*" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.211481236G>T" "" "likely pathogenic" ""
"0000823261" "3" "90" "1" "211654631" "211654631" "subst" "0" "00000" "RD3_000030" "g.211654631G>A" "" "{PMID:Hull 2020:32856788}" "" "RD3 nucleotide 1, protein 1:c.127C>T, p.Gln43* nucleotide 2, protein 2:-," "homozygous, ACMG classified, novel (Table 2)" "Germline" "?" "" "0" "" "" "g.211481289G>A" "" "pathogenic" "ACMG"
"0000847446" "3" "90" "1" "211654463" "211654463" "subst" "0" "00000" "RD3_000032" "g.211654463C>T" "0/121 unrelated ethnically matched controls" "" "" "c.296-1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847447" "3" "50" "1" "211654742" "211654742" "subst" "0.00195552" "00000" "RD3_000007" "g.211654742A>G" "" "" "" "c.16T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000847448" "3" "50" "1" "211654689" "211654689" "subst" "0.00192472" "00000" "RD3_000006" "g.211654689C>G" "" "" "" "69G>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000847449" "3" "50" "1" "211654674" "211654674" "subst" "0.00229766" "00000" "RD3_000036" "g.211654674C>T" "" "" "" "84G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000847450" "3" "50" "1" "211654523" "211654523" "subst" "0.00196243" "00000" "RD3_000003" "g.211654523A>G" "" "" "" "235T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000847451" "0" "50" "1" "211652577" "211652577" "subst" "8.62508E-6" "00000" "RD3_000031" "g.211652577T>A" "" "" "" "c.389A>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000847452" "0" "50" "1" "211654588" "211654588" "subst" "4.06157E-5" "00000" "RD3_000033" "g.211654588C>A" "" "" "" "c.170G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000847453" "3" "90" "1" "211654578" "211654578" "subst" "0" "00000" "RD3_000028" "g.211654578G>T" "" "" "" "c.180C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000847454" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847455" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847456" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847457" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847458" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847459" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847460" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847461" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847462" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847463" "3" "90" "1" "211654620" "211654621" "del" "0" "00000" "RD3_000034" "g.211654620_211654621del" "" "" "" "c.137_138delAG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847464" "3" "90" "1" "211654622" "211654622" "subst" "0" "00000" "RD3_000035" "g.211654622C>A" "" "" "" "c.136G>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000847465" "3" "90" "1" "211654646" "211654646" "subst" "4.06365E-6" "00000" "RD3_000029" "g.211654646G>A" "" "" "" "c.112 C > T, p.Arg38Ter" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000883096" "0" "30" "1" "211654587" "211654587" "subst" "4.4678E-5" "02330" "RD3_000037" "g.211654587A>C" "" "" "" "RD3(NM_183059.3):c.171T>G (p.G57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000958995" "0" "90" "1" "211654578" "211654578" "subst" "0" "00006" "RD3_000028" "g.211654578G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.211481236G>T" "" "pathogenic (recessive)" "ACMG"
"0000959031" "0" "50" "1" "211654499" "211654499" "subst" "0.000329662" "00006" "RD3_000001" "g.211654499T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BS2_SUPPORTING; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.211481157T>C" "" "VUS" "ACMG"
"0000987700" "3" "30" "1" "211654619" "211654619" "subst" "0.00990079" "00006" "RD3_000017" "g.211654619G>A" "" "{PMID:Basharat 2024:38815792}" "" "" "" "Germline" "no" "" "0" "" "" "g.211481277G>A" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes RD3
## Count = 69
"{{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}}"
"0000091170" "00025901" "90" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Lys87Glu)" "2"
"0000245443" "00025901" "10" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Leu79=)" ""
"0000245475" "00025901" "10" "16" "0" "16" "0" "c.16T>C" "r.(?)" "p.(Trp6Arg)" ""
"0000294770" "00025901" "50" "-11" "-2" "-11" "-2" "c.-11-2A>G" "r.spl?" "p.?" "1i"
"0000306890" "00025901" "50" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Gln)" ""
"0000306891" "00025901" "10" "584" "0" "584" "0" "c.584A>T" "r.(?)" "p.(Asp195Val)" ""
"0000321285" "00025901" "50" "69" "0" "69" "0" "c.69G>C" "r.(?)" "p.(Glu23Asp)" ""
"0000505073" "00025901" "50" "569" "0" "569" "0" "c.569G>C" "r.(?)" "p.(Arg190Pro)" ""
"0000505074" "00025901" "30" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Arg145=)" ""
"0000505075" "00025901" "10" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Leu79=)" ""
"0000505076" "00025901" "50" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Trp)" ""
"0000505077" "00025901" "10" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Ser61Asn)" ""
"0000505078" "00025901" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Thr56=)" ""
"0000505079" "00025901" "10" "16" "0" "16" "0" "c.16T>C" "r.(?)" "p.(Trp6Arg)" ""
"0000505080" "00025901" "30" "-10" "0" "-10" "0" "c.-10G>T" "r.(?)" "p.(=)" "2"
"0000605128" "00025901" "30" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Ala50=)" ""
"0000620489" "00025901" "50" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Ala40Thr)" ""
"0000647539" "00025901" "10" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Cys)" ""
"0000653874" "00025901" "50" "466" "0" "466" "0" "c.466C>A" "r.(?)" "p.(Arg156Ser)" ""
"0000685834" "00025901" "90" "94" "0" "94" "0" "c.94del" "r.(?)" "p.(Glu32Serfs*2)" ""
"0000688007" "00025901" "30" "433" "0" "433" "0" "c.433C>A" "r.(?)" "p.(Arg145=)" ""
"0000710368" "00025901" "50" "541" "0" "541" "0" "c.541C>G" "r.(?)" "p.(Leu181Val)" ""
"0000731031" "00025901" "50" "16" "0" "16" "0" "c.16T>C" "r.(?)" "p.(Trp6Arg)" ""
"0000731032" "00025901" "50" "69" "0" "69" "0" "c.69G>C" "r.(?)" "p.(Glu23Asp)" ""
"0000731077" "00025901" "50" "69" "0" "69" "0" "c.69G>C" "r.(?)" "p.(Glu23Asp)" ""
"0000731078" "00025901" "50" "16" "0" "16" "0" "c.16T>C" "r.(?)" "p.(Trp6Arg)" ""
"0000732475" "00025901" "50" "560" "0" "560" "0" "c.560C>A" "r.(?)" "p.(Pro187His)" ""
"0000735184" "00025901" "30" "433" "0" "433" "0" "c.433C>A" "r.(=)" "p.(=)" ""
"0000759850" "00025901" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Gln116Ter)" ""
"0000759879" "00025901" "70" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Leu104Pro)" ""
"0000783826" "00025901" "90" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Ala151ProfsTer62)" ""
"0000783862" "00025901" "50" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Leu104Pro)" ""
"0000783923" "00025901" "90" "419" "0" "419" "0" "c.419dup" "r.(?)" "p.(Gln141ProfsTer106)" ""
"0000788320" "00025901" "50" "89" "0" "89" "0" "c.89T>A" "r.(?)" "p.(Met30Lys)" "2"
"0000791575" "00025901" "50" "89" "0" "89" "0" "c.89T>A" "r.(?)" "p.(Met30Lys)" "2"
"0000796666" "00025901" "70" "584" "0" "584" "0" "c.584A>T" "r.(?)" "p.(Asp195Val)" "3"
"0000796786" "00025901" "70" "584" "0" "584" "0" "c.584A>T" "r.(?)" "p.(Asp195Val)" "3"
"0000797181" "00025901" "70" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Tyr60*)" ""
"0000814604" "00025901" "70" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Lys87Glu)" "2"
"0000815601" "00025901" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Lys87Glu)" ""
"0000819441" "00025901" "70" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" ""
"0000819581" "00025901" "70" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Tyr60*)" ""
"0000819582" "00025901" "70" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Tyr60*)" ""
"0000819583" "00025901" "70" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Tyr60*)" ""
"0000823261" "00025901" "90" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Gln43*)" ""
"0000847446" "00025901" "90" "296" "-1" "296" "-1" "c.296-1G>A" "r.(?)" "p.?" "2"
"0000847447" "00025901" "50" "16" "0" "16" "0" "c.16T>C" "r.(?)" "p.(Trp6Arg)" "2"
"0000847448" "00025901" "50" "69" "0" "69" "0" "c.69G>C" "r.(?)" "p.(Glu23Asp)" "2"
"0000847449" "00025901" "50" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(=)" "2"
"0000847450" "00025901" "50" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(=)" "2"
"0000847451" "00025901" "50" "389" "0" "389" "0" "c.389A>T" "r.(?)" "p.(Lys130Met)" "3"
"0000847452" "00025901" "50" "170" "0" "170" "0" "c.170G>T" "r.(?)" "p.(Gly57Val)" "2"
"0000847453" "00025901" "90" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Tyr60*)" "2"
"0000847454" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847455" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847456" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847457" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847458" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847459" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847460" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847461" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847462" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000847463" "00025901" "90" "137" "0" "138" "0" "c.137_138del" "r.(?)" "p.(Glu46Alafs*26)" "2"
"0000847464" "00025901" "90" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Glu46*)" "2"
"0000847465" "00025901" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2"
"0000883096" "00025901" "30" "171" "0" "171" "0" "c.171T>G" "r.(?)" "p.(Gly57=)" ""
"0000958995" "00025901" "90" "180" "0" "180" "0" "c.180C>A" "r.(?)" "p.(Tyr60Ter)" ""
"0000959031" "00025901" "50" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Lys87Glu)" ""
"0000987700" "00025901" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Arg47Cys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 50
"{{screeningid}}" "{{variantid}}"
"0000059912" "0000091170"
"0000078147" "0000685834"
"0000100491" "0000735184"
"0000145015" "0000788320"
"0000145111" "0000796786"
"0000290850" "0000647539"
"0000326698" "0000710368"
"0000333405" "0000731031"
"0000333405" "0000731032"
"0000333430" "0000731077"
"0000333430" "0000731078"
"0000334582" "0000732475"
"0000360152" "0000759850"
"0000360152" "0000759879"
"0000373678" "0000783826"
"0000373678" "0000783923"
"0000373714" "0000783862"
"0000378722" "0000791575"
"0000382810" "0000796666"
"0000383158" "0000797181"
"0000386846" "0000814604"
"0000387434" "0000815601"
"0000390096" "0000819441"
"0000390236" "0000819581"
"0000390237" "0000819582"
"0000390238" "0000819583"
"0000392826" "0000823261"
"0000410184" "0000847446"
"0000410185" "0000847447"
"0000410185" "0000847448"
"0000410185" "0000847449"
"0000410185" "0000847450"
"0000410186" "0000847451"
"0000410187" "0000847452"
"0000410188" "0000847453"
"0000410189" "0000847454"
"0000410190" "0000847455"
"0000410191" "0000847456"
"0000410192" "0000847457"
"0000410193" "0000847458"
"0000410194" "0000847459"
"0000410195" "0000847460"
"0000410196" "0000847461"
"0000410197" "0000847462"
"0000410198" "0000847463"
"0000410199" "0000847464"
"0000410200" "0000847465"
"0000449228" "0000958995"
"0000449264" "0000959031"
"0000453142" "0000987700"