### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OPN1MW)
# 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}}"
"OPN1MW" "opsin 1 (cone pigments), medium-wave-sensitive" "X" "q28" "unknown" "NG_011606.1" "UD_132118576741" "" "https://www.LOVD.nl/OPN1MW" "" "1" "4206" "2652" "300821" "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/OPN1MW_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-04 00:00:00" "00006" "2020-12-01 15:18:52" "00000" "2025-11-01 13:22:20"
## 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}}"
"00015056" "OPN1MW" "opsin 1 (cone pigments), medium-wave-sensitive" "001" "NM_000513.2" "" "NP_000504.1" "" "" "" "-82" "1916" "1095" "153448085" "153462352" "" "0000-00-00 00:00:00" "" ""
## 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}}"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02225" "BCM" "monochromacy, blue cone (BCM, cone dystrophy, type 5 (COD-5))" "XLR" "303700" "" "X-linked recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02226" "CBD" "colorblindness, deutan series, partial (CBD)" "XL" "303800" "" "" "" "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 = 2
"{{geneid}}" "{{diseaseid}}"
"OPN1MW" "02225"
"OPN1MW" "02226"
## Individuals ## Do not remove or alter this header ##
## Count = 10
"{{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}}"
"00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29"
"00309272" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309274" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309275" "" "" "" "6" "" "00004" "{PMID:Sharon 2019:31456290}" "6 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309278" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00387638" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "26"
"00447026" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "BCM-308-1"
"00447120" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "CRD-844-1"
"00447121" "" "" "00447120" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "CRD-844-2"
"00447369" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-408"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 10
"{{individualid}}" "{{diseaseid}}"
"00183137" "00187"
"00309272" "04214"
"00309274" "04214"
"00309275" "04214"
"00309278" "04214"
"00387638" "04214"
"00447026" "00198"
"00447120" "00198"
"00447121" "00198"
"00447369" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 02225, 02226, 04214
## Count = 10
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}"
"0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" ""
"0000234592" "04214" "00309272" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234594" "04214" "00309274" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234595" "04214" "00309275" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234598" "04214" "00309278" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000281201" "04214" "00387638" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Achromatopsia" "Childhood retinal disease" ""
"0000336225" "00198" "00447026" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336319" "00198" "00447120" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336320" "00198" "00447121" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336568" "00198" "00447369" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 10
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome"
"0000310417" "00309272" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310419" "00309274" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310420" "00309275" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310423" "00309278" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000388864" "00387638" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing"
"0000448603" "00447026" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448697" "00447120" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448698" "00447121" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448946" "00447369" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000184095" "MECP2"
"0000310417" "OPN1MW"
"0000310419" "OPN1LW"
"0000310420" "OPN1MW"
"0000310423" "OPN1MW"
"0000388864" "OPN1MW"
## 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 = 58
"{{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}}"
"0000293379" "0" "10" "X" "153461539" "153461539" "subst" "0.00137674" "02330" "OPN1MW_000008" "g.153461539C>T" "" "" "" "OPN1MW(NM_000513.2):c.*8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154196048C>T" "" "benign" ""
"0000293380" "0" "30" "X" "153453446" "153453446" "subst" "0" "02330" "OPN1MW_000001" "g.153453446G>A" "" "" "" "OPN1MW(NM_000513.2):c.300G>A (p.L100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154187957G>A" "" "likely benign" ""
"0000293381" "0" "30" "X" "153453477" "153453477" "subst" "0.000125458" "02330" "OPN1MW_000003" "g.153453477G>A" "" "" "" "OPN1MW(NM_000513.2):c.331G>A (p.V111I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154187988G>A" "" "likely benign" ""
"0000293382" "0" "30" "X" "153455598" "153455598" "subst" "0.0386277" "02330" "OPN1MW_000006" "g.153455598C>G" "" "" "" "OPN1MW(NM_000513.2):c.465C>G (p.V155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154190109C>G" "" "likely benign" ""
"0000336170" "0" "50" "X" "153453493" "153453493" "subst" "0" "01804" "OPN1MW_000004" "g.153453493A>C" "" "" "" "OPN1MW(NM_000513.2):c.347A>C (p.Y116S, p.(Tyr116Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154188004A>C" "" "VUS" ""
"0000336171" "0" "50" "X" "153455373" "153455373" "subst" "0" "01804" "OPN1MW_000005" "g.153455373T>C" "" "" "" "OPN1MW(NM_000513.2):c.410-170T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154189884=" "" "VUS" ""
"0000346005" "0" "50" "X" "153461449" "153461449" "subst" "0" "02327" "OPN1MW_000009" "g.153461449G>T" "" "" "" "OPN1MW(NM_000513.2):c.1013G>T (p.G338V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154195958G>T" "" "VUS" ""
"0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000574618" "0" "10" "X" "153453340" "153453340" "subst" "0" "02330" "OPN1MW_000011" "g.153453340T>C" "" "" "" "OPN1MW(NM_000513.2):c.194T>C (p.I65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154187851T>C" "" "benign" ""
"0000574619" "0" "30" "X" "153453340" "153453340" "subst" "0" "01943" "OPN1MW_000011" "g.153453340T>C" "" "" "" "OPN1MW(NM_000513.2):c.194T>C (p.I65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154187851T>C" "" "likely benign" ""
"0000574621" "0" "30" "X" "153453477" "153453477" "subst" "0.000125458" "01943" "OPN1MW_000003" "g.153453477G>A" "" "" "" "OPN1MW(NM_000513.2):c.331G>A (p.V111I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154187988G>A" "" "likely benign" ""
"0000574622" "0" "10" "X" "153453493" "153453493" "subst" "0" "02330" "OPN1MW_000004" "g.153453493A>C" "" "" "" "OPN1MW(NM_000513.2):c.347A>C (p.Y116S, p.(Tyr116Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154188004A>C" "" "benign" ""
"0000574623" "0" "50" "X" "153453516" "153453516" "subst" "0" "01943" "OPN1MW_000012" "g.153453516C>G" "" "" "" "OPN1MW(NM_000513.2):c.370C>G (p.P124A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154188027C>G" "" "VUS" ""
"0000574626" "0" "30" "X" "153455598" "153455598" "subst" "0.0386277" "01943" "OPN1MW_000006" "g.153455598C>G" "" "" "" "OPN1MW(NM_000513.2):c.465C>G (p.V155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154190109C>G" "" "likely benign" ""
"0000574629" "0" "90" "X" "153455646" "153455646" "subst" "0.00128383" "02327" "OPN1MW_000015" "g.153455646G>T" "" "" "" "OPN1MW(NM_000513.2):c.513G>T (p.V171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154190157G>T" "" "pathogenic" ""
"0000574635" "0" "10" "X" "153455671" "153455671" "subst" "0.0736931" "02330" "OPN1MW_000017" "g.153455671G>T" "" "" "" "OPN1MW(NM_000513.2):c.538G>T (p.A180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154190182G>T" "" "benign" ""
"0000574636" "0" "10" "X" "153455671" "153455671" "subst" "0.0736931" "01943" "OPN1MW_000017" "g.153455671G>T" "" "" "" "OPN1MW(NM_000513.2):c.538G>T (p.A180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154190182G>T" "" "benign" ""
"0000574637" "0" "50" "X" "153457259" "153457259" "subst" "0" "02327" "OPN1MW_000018" "g.153457259T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154191768T>C" "" "VUS" ""
"0000574638" "0" "30" "X" "153458989" "153458989" "subst" "0.000984865" "01943" "OPN1MW_000019" "g.153458989T>G" "" "" "" "OPN1MW(NM_000513.2):c.835T>G (p.F279V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154193498T>G" "" "likely benign" ""
"0000574639" "0" "30" "X" "153461483" "153461483" "subst" "0" "01943" "OPN1MW_000020" "g.153461483C>T" "" "" "" "OPN1MW(NM_000513.2):c.1047C>T (p.S349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154195992C>T" "" "likely benign" ""
"0000619237" "0" "10" "X" "153453453" "153453453" "subst" "0.00552997" "02330" "OPN1MW_000002" "g.153453453A>G" "" "" "" "OPN1MW(NM_000513.2):c.307A>G (p.T103A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154187964A>G" "" "benign" ""
"0000619238" "0" "30" "X" "153455586" "153455586" "subst" "0.000231232" "01943" "OPN1MW_000021" "g.153455586A>G" "" "" "" "OPN1MW(NM_000513.2):c.453A>G (p.R151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154190097A>G" "" "likely benign" ""
"0000619239" "0" "30" "X" "153461472" "153461472" "subst" "0" "01804" "OPN1MW_000022" "g.153461472G>C" "" "" "" "OPN1MW(NM_000513.2):c.1036G>C (p.(Glu346Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154195981G>C" "" "likely benign" ""
"0000659192" "0" "30" "X" "153453566" "153453566" "subst" "0.00338833" "02330" "OPN1MW_000023" "g.153453566C>T" "" "" "" "OPN1MW(NM_000513.2):c.409+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154188077C>T" "" "likely benign" ""
"0000659193" "0" "30" "X" "153459080" "153459080" "subst" "0.000422693" "01943" "OPN1MW_000024" "g.153459080T>A" "" "" "" "OPN1MW(NM_000513.2):c.926T>A (p.F309Y, p.(Phe309Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154193589T>A" "" "likely benign" ""
"0000685328" "1" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1MW: c.[499C>A;552G>A;573A>G;579T>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685331" "1" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "6/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1LW: c.[573A>G;579T>G]; OPN1MW: c.[562C>T;573A>G;579T>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685334" "0" "90" "X" "153457207" "153457207" "subst" "0" "00004" "OPN1MW_000025" "g.153457207T>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1LW del; OPN1MW: c.607T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685576" "1" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1MW del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000693456" "0" "30" "X" "153453437" "153453437" "subst" "0.000380129" "01943" "OPN1MW_000026" "g.153453437C>T" "" "" "" "OPN1MW(NM_000513.2):c.291C>T (p.V97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728620" "0" "30" "X" "153453422" "153453422" "subst" "0" "01943" "OPN1MW_000027" "g.153453422G>A" "" "" "" "OPN1MW(NM_000513.2):c.276G>A (p.L92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728621" "0" "30" "X" "153459042" "153459042" "subst" "0.000134284" "01943" "OPN1MW_000028" "g.153459042C>T" "" "" "" "OPN1MW(NM_000513.2):c.888C>T (p.G296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728622" "0" "30" "X" "153459046" "153459046" "subst" "0.000141034" "01943" "OPN1MW_000029" "g.153459046C>G" "" "" "" "OPN1MW(NM_000513.2):c.892C>G (p.P298A, p.(Pro298Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810121" "0" "50" "X" "153455646" "153455646" "subst" "0.00128383" "01943" "OPN1MW_000015" "g.153455646G>T" "" "" "" "OPN1MW(NM_000513.2):c.513G>T (p.V171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810122" "0" "30" "X" "153461482" "153461482" "subst" "0" "01943" "OPN1MW_000030" "g.153461482G>C" "" "" "" "OPN1MW(NM_000513.2):c.1046G>C (p.S349T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000817650" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Zanolli 2020:32141364}" "" "Opsin Exon 2 gene deletion" "no protein change given, probably hemizygous (gender unknown), error in annotation, no opsin gene indicated, OPN1MW assumed, hemizygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" ""
"0000867197" "0" "50" "X" "153453340" "153453340" "subst" "0" "01943" "OPN1MW_000031" "g.153453340T>G" "" "" "" "OPN1MW(NM_000513.2):c.194T>G (p.I65S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867198" "0" "90" "X" "153457207" "153457207" "subst" "0" "02327" "OPN1MW_000025" "g.153457207T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000867199" "0" "50" "X" "153461449" "153461449" "subst" "0" "01943" "OPN1MW_000009" "g.153461449G>T" "" "" "" "OPN1MW(NM_000513.2):c.1013G>T (p.G338V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896004" "0" "70" "X" "153453504" "153453504" "subst" "0" "02327" "OPN1LW_000045" "g.153453504G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000896005" "0" "50" "X" "153455599" "153455599" "subst" "0" "02327" "OPN1MW_000032" "g.153455599T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896006" "0" "50" "X" "153455652" "153455652" "subst" "0" "02327" "OPN1MW_000033" "g.153455652T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896007" "0" "90" "X" "153458917" "153458917" "subst" "0" "02327" "OPN1MW_000034" "g.153458917G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000915648" "0" "50" "X" "153455671" "153455671" "subst" "0" "02327" "OPN1MW_000035" "g.153455671G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000927285" "0" "30" "X" "153448022" "153448022" "subst" "0" "02327" "OPN1MW_000036" "g.153448022C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000927286" "0" "30" "X" "153448204" "153448204" "subst" "0" "02327" "OPN1MW_000037" "g.153448204G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000927287" "0" "50" "X" "153453411" "153453411" "subst" "0" "02327" "OPN1MW_000038" "g.153453411A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000927288" "0" "10" "X" "153453566" "153453566" "subst" "0.00338833" "02327" "OPN1MW_000023" "g.153453566C>T" "" "" "" "OPN1MW(NM_000513.2):c.409+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000927289" "0" "90" "X" "153455670" "153455670" "subst" "0" "02327" "OPN1MW_000039" "g.153455670G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000951709" "0" "30" "X" "153459003" "153459003" "subst" "0" "02327" "OPN1MW_000040" "g.153459003A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000958473" "20" "10" "X" "153455665" "153455665" "subst" "0.0186215" "00006" "OPN1MW_000016" "g.153455665A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BA1, BS1, BS2, BP4" "Germline" "" "" "0" "" "" "g.154190176A>G" "" "benign" "ACMG"
"0000958531" "1" "50" "X" "153455596" "153455598" "del" "0" "00006" "OPN1MW_000041" "g.153455596_153455598del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4" "Germline" "" "" "0" "" "" "g.154190107_154190109del" "" "VUS" "ACMG"
"0000958532" "20" "50" "X" "153455596" "153455598" "del" "0" "00006" "OPN1MW_000041" "g.153455596_153455598del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4" "Germline" "" "" "0" "" "" "g.154190107_154190109del" "" "VUS" "ACMG"
"0000959144" "21" "10" "X" "153455665" "153455665" "subst" "0.0186215" "00006" "OPN1MW_000016" "g.153455665A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BA1, BS1, BS2, BP4" "Germline" "" "" "0" "" "" "g.154190176A>G" "" "benign" "ACMG"
"0001006561" "0" "50" "X" "153453282" "153453282" "subst" "0" "01804" "OPN1MW_000042" "g.153453282C>G" "" "" "" "OPN1MW(NM_000513.2):c.136C>G (p.(His46Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006562" "0" "50" "X" "153457219" "153457219" "subst" "0" "02327" "OPN1MW_000043" "g.153457219G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001044194" "0" "30" "X" "153459046" "153459046" "subst" "0.000141034" "01804" "OPN1MW_000029" "g.153459046C>G" "" "" "" "OPN1MW(NM_000513.2):c.892C>G (p.P298A, p.(Pro298Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001044195" "0" "30" "X" "153459080" "153459080" "subst" "0.000422693" "01804" "OPN1MW_000024" "g.153459080T>A" "" "" "" "OPN1MW(NM_000513.2):c.926T>A (p.F309Y, p.(Phe309Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes OPN1MW
## Count = 58
"{{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}}"
"0000293379" "00015056" "10" "1103" "0" "1103" "0" "c.*8C>T" "r.(=)" "p.(=)" ""
"0000293380" "00015056" "30" "300" "0" "300" "0" "c.300G>A" "r.(?)" "p.(Leu100=)" ""
"0000293381" "00015056" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Val111Ile)" ""
"0000293382" "00015056" "30" "465" "0" "465" "0" "c.465C>G" "r.(?)" "p.(Val155=)" ""
"0000336170" "00015056" "50" "347" "0" "347" "0" "c.347A>C" "r.(?)" "p.(Tyr116Ser)" ""
"0000336171" "00015056" "50" "410" "-170" "410" "-170" "c.410-170T>C" "r.(=)" "p.(=)" ""
"0000346005" "00015056" "50" "1013" "0" "1013" "0" "c.1013G>T" "r.(?)" "p.(Gly338Val)" ""
"0000408064" "00015056" "00" "-737361" "0" "149470" "0" "c.-737361_*148375dup" "r.0?" "p.0?" ""
"0000574618" "00015056" "10" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" ""
"0000574619" "00015056" "30" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" ""
"0000574621" "00015056" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Val111Ile)" ""
"0000574622" "00015056" "10" "347" "0" "347" "0" "c.347A>C" "r.(?)" "p.(Tyr116Ser)" ""
"0000574623" "00015056" "50" "370" "0" "370" "0" "c.370C>G" "r.(?)" "p.(Pro124Ala)" ""
"0000574626" "00015056" "30" "465" "0" "465" "0" "c.465C>G" "r.(?)" "p.(Val155=)" ""
"0000574629" "00015056" "90" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Val171=)" ""
"0000574635" "00015056" "10" "538" "0" "538" "0" "c.538G>T" "r.(?)" "p.(Ala180Ser)" ""
"0000574636" "00015056" "10" "538" "0" "538" "0" "c.538G>T" "r.(?)" "p.(Ala180Ser)" ""
"0000574637" "00015056" "50" "659" "0" "659" "0" "c.659T>C" "r.(?)" "p.(Met220Thr)" ""
"0000574638" "00015056" "30" "835" "0" "835" "0" "c.835T>G" "r.(?)" "p.(Phe279Val)" ""
"0000574639" "00015056" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Ser349=)" ""
"0000619237" "00015056" "10" "307" "0" "307" "0" "c.307A>G" "r.(?)" "p.(Thr103Ala)" ""
"0000619238" "00015056" "30" "453" "0" "453" "0" "c.453A>G" "r.(?)" "p.(Arg151=)" ""
"0000619239" "00015056" "30" "1036" "0" "1036" "0" "c.1036G>C" "r.(?)" "p.(Glu346Gln)" ""
"0000659192" "00015056" "30" "409" "11" "409" "11" "c.409+11C>T" "r.(=)" "p.(=)" ""
"0000659193" "00015056" "30" "926" "0" "926" "0" "c.926T>A" "r.(?)" "p.(Phe309Tyr)" ""
"0000685328" "00015056" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000685331" "00015056" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000685334" "00015056" "90" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Cys203Arg)" ""
"0000685576" "00015056" "90" "0" "0" "0" "0" "c.?" "r.0" "p.0" ""
"0000693456" "00015056" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Val97=)" ""
"0000728620" "00015056" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Leu92=)" ""
"0000728621" "00015056" "30" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(Gly296=)" ""
"0000728622" "00015056" "30" "892" "0" "892" "0" "c.892C>G" "r.(?)" "p.(Pro298Ala)" ""
"0000810121" "00015056" "50" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Val171=)" ""
"0000810122" "00015056" "30" "1046" "0" "1046" "0" "c.1046G>C" "r.(?)" "p.(Ser349Thr)" ""
"0000817650" "00015056" "70" "113" "-1" "409" "1" "c.(112+1_113-1)_(409+1_410-1)del" "r.spl" "p.(?)" ""
"0000867197" "00015056" "50" "194" "0" "194" "0" "c.194T>G" "r.(?)" "p.(Ile65Ser)" ""
"0000867198" "00015056" "90" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Cys203Arg)" ""
"0000867199" "00015056" "50" "1013" "0" "1013" "0" "c.1013G>T" "r.(?)" "p.(Gly338Val)" ""
"0000896004" "00015056" "70" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Val120Met)" ""
"0000896005" "00015056" "50" "466" "0" "466" "0" "c.466T>C" "r.(?)" "p.(Cys156Arg)" ""
"0000896006" "00015056" "50" "519" "0" "519" "0" "c.519T>C" "r.(?)" "p.(Ile173=)" ""
"0000896007" "00015056" "90" "763" "0" "763" "0" "c.763G>T" "r.(?)" "p.(Glu255*)" ""
"0000915648" "00015056" "50" "538" "0" "538" "0" "c.538G>C" "r.(?)" "p.(Ala180Pro)" ""
"0000927285" "00015056" "30" "-145" "0" "-145" "0" "c.-145C>T" "r.(?)" "p.(=)" ""
"0000927286" "00015056" "30" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" ""
"0000927287" "00015056" "50" "265" "0" "265" "0" "c.265A>G" "r.(?)" "p.(Asn89Asp)" ""
"0000927288" "00015056" "10" "409" "11" "409" "11" "c.409+11C>T" "r.(=)" "p.(=)" ""
"0000927289" "00015056" "90" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Trp179*)" ""
"0000951709" "00015056" "30" "849" "0" "849" "0" "c.849A>C" "r.(?)" "p.(Pro283=)" ""
"0000958473" "00015056" "10" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" ""
"0000958531" "00015056" "50" "463" "0" "465" "0" "c.463_465del" "r.(?)" "p.(Val155del)" ""
"0000958532" "00015056" "50" "463" "0" "465" "0" "c.463_465del" "r.(?)" "p.(Val155del)" ""
"0000959144" "00015056" "10" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" ""
"0001006561" "00015056" "50" "136" "0" "136" "0" "c.136C>G" "r.(?)" "p.(His46Asp)" ""
"0001006562" "00015056" "50" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Val207Met)" ""
"0001044194" "00015056" "30" "892" "0" "892" "0" "c.892C>G" "r.(?)" "p.(Pro298Ala)" ""
"0001044195" "00015056" "30" "926" "0" "926" "0" "c.926T>A" "r.(?)" "p.(Phe309Tyr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{variantid}}"
"0000184095" "0000408064"
"0000310417" "0000685328"
"0000310419" "0000685576"
"0000310420" "0000685331"
"0000310423" "0000685334"
"0000388864" "0000817650"
"0000448603" "0000958473"
"0000448697" "0000958531"
"0000448698" "0000958532"
"0000448946" "0000959144"