### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OPN1LW)
# 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}}"
"OPN1LW" "opsin 1 (cone pigments), long-wave-sensitive" "X" "q28" "unknown" "NG_009105.2" "UD_132084521974" "" "https://www.LOVD.nl/OPN1LW" "" "1" "9936" "5956" "300822" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OPN1LW_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2018-03-14 15:21:01" "00000" "2024-10-29 21:08:56"
## 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}}"
"00001341" "OPN1LW" "opsin 1 (cone pigments), long-wave-sensitive" "001" "NM_020061.4" "" "NP_064445.1" "" "" "" "-33" "1201" "1095" "153409725" "153424507" "00000" "2012-09-13 13:27:26" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"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"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"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"
"02227" "CBP" "colorblindness, partial, Protan series (CBP)" "XL" "303900" "" "X-linked" "" "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"
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"OPN1LW" "02225"
"OPN1LW" "02227"
## Individuals ## Do not remove or alter this header ##
## Count = 28
"{{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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00155194" "" "" "" "2" "" "00115" "personal communication" "3-generation family, 2 affected cousins, cousin of 4(III8)" "M" "" "" "" "0" "" "" "" "3(III4)"
"00155195" "" "" "00155194" "1" "" "00115" "personal communication" "Cousin of 3(III4)" "M" "" "" "" "0" "" "" "" "4(III8)"
"00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29"
"00309271" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309272" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309273" "" "" "" "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" "" "" "" ""
"00309276" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00309277" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00372692" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP266"
"00372730" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP383"
"00373905" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-556-1135"
"00391582" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "" "" "New Zealand" "" "0" "" "" "white" "81"
"00447026" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "BCM-308-1"
"00447027" "" "" "00447026" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "BCM-308-2"
"00447028" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "BCM-323"
"00447029" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "BCM-342"
"00447030" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "BCM-346"
"00447031" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "BCM-354"
"00447032" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "BCM-371"
"00447033" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "BCM-379"
"00447369" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-408"
"00450893" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "070703"
"00450894" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073793"
"00450895" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "DNA18-17689"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 28
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00155194" "00198"
"00155195" "00198"
"00183137" "00187"
"00309271" "04214"
"00309272" "04214"
"00309273" "04214"
"00309274" "04214"
"00309275" "04214"
"00309276" "04214"
"00309277" "04214"
"00372692" "04214"
"00372730" "04214"
"00373905" "04214"
"00391582" "04214"
"00447026" "00198"
"00447027" "00198"
"00447028" "00198"
"00447029" "00198"
"00447030" "00198"
"00447031" "00198"
"00447032" "00198"
"00447033" "00198"
"00447369" "00198"
"00450893" "04249"
"00450894" "04249"
"00450895" "04249"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 02225, 02227, 04214, 04249
## Count = 28
"{{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}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000127744" "00198" "00155194" "00115" "Unknown" "" "TSH-XL, hypogonadism (HP:0000135), mild hypocortisolism (HP:0008163)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000127745" "00198" "00155195" "00115" "Unknown" "" "TSH-XL, hypogonadism (HP:0000135), mild hypocortisolism (HP:0008163)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" ""
"0000234591" "04214" "00309271" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234592" "04214" "00309272" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234593" "04214" "00309273" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234594" "04214" "00309274" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234595" "04214" "00309275" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234596" "04214" "00309276" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000234597" "04214" "00309277" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000267971" "04214" "00372692" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268009" "04214" "00372730" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000269114" "04214" "00373905" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000284918" "04214" "00391582" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336225" "00198" "00447026" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336226" "00198" "00447027" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336227" "00198" "00447028" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336228" "00198" "00447029" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336229" "00198" "00447030" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336230" "00198" "00447031" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336231" "00198" "00447032" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336232" "00198" "00447033" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "blue cone monochromacy" ""
"0000336568" "00198" "00447369" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339948" "04249" "00450893" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy, protanopia" ""
"0000339949" "04249" "00450894" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339950" "04249" "00450895" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 28
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000156058" "00155194" "1" "00115" "00115" "2010-06-11 11:39:19" "" "" "SEQ" "DNA" "" ""
"0000156059" "00155195" "1" "00115" "00115" "2010-06-11 11:39:19" "" "" "SEQ" "DNA" "" ""
"0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome"
"0000310416" "00309271" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310417" "00309272" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310418" "00309273" "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" "" ""
"0000310421" "00309276" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310422" "00309277" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000373924" "00372692" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373962" "00372730" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000375137" "00373905" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel"
"0000392824" "00391582" "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"
"0000448603" "00447026" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448604" "00447027" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448605" "00447028" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448606" "00447029" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448607" "00447030" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448608" "00447031" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448609" "00447032" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448610" "00447033" "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"
"0000452491" "00450893" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452492" "00450894" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452493" "00450895" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}" "{{geneid}}"
"0000156058" "EBP"
"0000156058" "OPN1LW"
"0000156059" "EBP"
"0000156059" "OPN1LW"
"0000184095" "MECP2"
"0000310416" "OPN1LW"
"0000310417" "OPN1MW"
"0000310418" "OPN1LW"
"0000310419" "OPN1LW"
"0000310420" "OPN1MW"
"0000310421" "OPN1LW"
"0000310422" "OPN1LW"
"0000375137" "OPN1LW"
"0000392824" "OPN1LW"
## 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 = 97
"{{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}}"
"0000008058" "20" "50" "X" "153418541" "153418541" "subst" "0.22331" "00037" "OPN1LW_000002" "g.153418541T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154153068=" "" "VUS" ""
"0000010237" "20" "50" "X" "153416537" "153416537" "subst" "0" "00037" "OPN1LW_000003" "g.153416537A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154151065=" "" "VUS" ""
"0000010238" "20" "50" "X" "153418541" "153418541" "subst" "0.22331" "00037" "OPN1LW_000002" "g.153418541T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154153068=" "" "VUS" ""
"0000010239" "20" "50" "X" "153419759" "153419759" "subst" "0" "00037" "OPN1LW_000005" "g.153419759G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154154284=" "" "VUS" ""
"0000248847" "0" "10" "X" "153420176" "153420176" "subst" "0.0919621" "02325" "OPN1LW_000011" "g.153420176A>G" "" "" "" "OPN1LW(NM_020061.6):c.706A>G (p.M236V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154154701A>G" "" "benign" ""
"0000256311" "0" "50" "X" "153420176" "153420176" "subst" "0.000546952" "01943" "OPN1LW_000012" "g.153420176A>C" "" "" "" "OPN1LW(NM_020061.5):c.706A>C (p.M236L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154154701A>C" "" "VUS" ""
"0000293375" "0" "10" "X" "153416362" "153416362" "subst" "0.000489677" "02330" "OPN1LW_000006" "g.153416362C>A" "" "" "" "OPN1LW(NM_020061.4):c.347C>A (p.(Ser116Tyr)), OPN1LW(NM_020061.5):c.347C>A (p.S116Y), OPN1LW(NM_020061.6):c.347C>A (p.S116Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154150890C>A" "" "benign" ""
"0000293376" "0" "30" "X" "153418541" "153418541" "subst" "0.22331" "02330" "OPN1LW_000002" "g.153418541T>G" "" "" "" "OPN1LW(NM_020061.6):c.538T>G (p.S180A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154153068=" "" "likely benign" ""
"0000293377" "0" "10" "X" "153420159" "153420159" "subst" "0.00229554" "02330" "OPN1LW_000010" "g.153420159T>C" "" "" "" "OPN1LW(NM_020061.6):c.689T>C (p.I230T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154154684T>C" "" "benign" ""
"0000293378" "0" "10" "X" "153421981" "153421981" "subst" "6.76334E-5" "02330" "OPN1LW_000018" "g.153421981C>T" "" "" "" "OPN1LW(NM_020061.5):c.957C>T (p.P319=), OPN1LW(NM_020061.6):c.957C>T (p.P319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154156506C>T" "" "benign" ""
"0000296684" "0" "10" "X" "153418541" "153418541" "subst" "0.22331" "02325" "OPN1LW_000002" "g.153418541T>G" "" "" "" "OPN1LW(NM_020061.6):c.538T>G (p.S180A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154153068=" "" "benign" ""
"0000304797" "0" "30" "X" "153418486" "153418486" "subst" "0.00184076" "01943" "OPN1LW_000007" "g.153418486T>C" "" "" "" "OPN1LW(NM_020061.5):c.483T>C (p.N161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154153013T>C" "" "likely benign" ""
"0000304798" "0" "30" "X" "153418499" "153418499" "subst" "6.07441E-6" "01943" "OPN1LW_000009" "g.153418499G>T" "" "" "" "OPN1LW(NM_020061.4):c.496G>T (p.(Ala166Ser)), OPN1LW(NM_020061.5):c.496G>T (p.A166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154153026G>T" "" "likely benign" ""
"0000304799" "0" "50" "X" "153420198" "153420198" "subst" "0" "01943" "OPN1LW_000013" "g.153420198G>T" "" "" "" "OPN1LW(NM_020061.5):c.728G>T (p.W243L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154154723G>T" "" "VUS" ""
"0000304800" "0" "50" "X" "153420200" "153420200" "subst" "0" "01943" "OPN1LW_000014" "g.153420200C>G" "" "" "" "OPN1LW(NM_020061.5):c.730C>G (p.L244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154154725C>G" "" "VUS" ""
"0000304801" "0" "90" "X" "153421915" "153421915" "subst" "0" "01943" "OPN1LW_000015" "g.153421915C>G" "" "" "" "OPN1LW(NM_020061.5):c.891C>G (p.Y297*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154156440C>G" "" "pathogenic" ""
"0000336163" "0" "50" "X" "153416209" "153416209" "subst" "0" "01804" "OPN1LW_000029" "g.153416209C>T" "" "" "" "OPN1LW(NM_020061.4):c.194C>T (p.(Thr65Ile)), OPN1LW(NM_020061.5):c.194C>T (p.T65I), OPN1LW(NM_020061.6):c.194C>T (p.T65I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154150737C>T" "" "VUS" ""
"0000336164" "0" "50" "X" "153416362" "153416362" "subst" "0.000489677" "01804" "OPN1LW_000006" "g.153416362C>A" "" "" "" "OPN1LW(NM_020061.4):c.347C>A (p.(Ser116Tyr)), OPN1LW(NM_020061.5):c.347C>A (p.S116Y), OPN1LW(NM_020061.6):c.347C>A (p.S116Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154150890C>A" "" "VUS" ""
"0000336165" "0" "50" "X" "153418491" "153418491" "subst" "0.000359001" "01804" "OPN1LW_000008" "g.153418491G>T" "" "" "" "OPN1LW(NM_020061.4):c.488G>T (p.(Arg163Ile)), OPN1LW(NM_020061.5):c.488G>T (p.R163I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154153018G>T" "" "VUS" ""
"0000339484" "0" "30" "X" "153421873" "153421873" "subst" "6.76007E-5" "02327" "OPN1LW_000026" "g.153421873C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154156398C>A" "" "likely benign" ""
"0000341218" "0" "90" "X" "153418524" "153418524" "subst" "0.0915564" "02327" "OPN1LW_000022" "g.153418524C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154153051C>T" "" "pathogenic" ""
"0000342484" "0" "90" "X" "153421826" "153421828" "delins" "0" "02327" "OPN1LW_000025" "g.153421826_153421828delinsG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154156351_154156353delinsG" "" "pathogenic" ""
"0000344306" "0" "90" "X" "153420077" "153420077" "subst" "0" "02327" "OPN1LW_000023" "g.153420077T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154154602T>C" "" "pathogenic" ""
"0000347021" "0" "50" "X" "153420189" "153420189" "subst" "0" "02327" "OPN1LW_000024" "g.153420189T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154154714T>G" "" "VUS" ""
"0000348670" "0" "30" "X" "153416362" "153416362" "subst" "0" "02327" "OPN1LW_000020" "g.153416362C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154150890C>G" "" "likely benign" ""
"0000350025" "0" "90" "X" "153421876" "153421876" "subst" "0" "02327" "OPN1LW_000027" "g.153421876C>A" "" "" "" "OPN1LW(NM_020061.6):c.852C>A (p.Y284*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154156401C>A" "" "pathogenic" ""
"0000350346" "0" "90" "X" "153418514" "153418516" "delins" "0" "02327" "OPN1LW_000021" "g.153418514_153418516delinsATT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154153041_154153043delinsATT" "" "pathogenic" ""
"0000357909" "20" "50" "X" "153418541" "153418541" "subst" "0.22331" "00115" "OPN1LW_000001" "g.153418541T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154153068=" "" "VUS" ""
"0000357910" "20" "50" "X" "153418541" "153418541" "subst" "0.22331" "00115" "OPN1LW_000001" "g.153418541T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154153068=" "" "VUS" ""
"0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000574600" "0" "10" "X" "153416109" "153416109" "subst" "0" "02330" "OPN1LW_000028" "g.153416109C>G" "" "" "" "OPN1LW(NM_020061.6):c.113-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154150637C>G" "" "benign" ""
"0000574601" "0" "10" "X" "153416209" "153416209" "subst" "0" "02330" "OPN1LW_000029" "g.153416209C>T" "" "" "" "OPN1LW(NM_020061.4):c.194C>T (p.(Thr65Ile)), OPN1LW(NM_020061.5):c.194C>T (p.T65I), OPN1LW(NM_020061.6):c.194C>T (p.T65I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154150737C>T" "" "benign" ""
"0000574602" "0" "50" "X" "153416316" "153416316" "subst" "0" "01943" "OPN1LW_000030" "g.153416316G>C" "" "" "" "OPN1LW(NM_020061.5):c.301G>C (p.A101P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154150844G>C" "" "VUS" ""
"0000574603" "0" "30" "X" "153416346" "153416346" "subst" "0.0222697" "01804" "OPN1LW_000031" "g.153416346A>G" "" "" "" "OPN1LW(NM_020061.4):c.331A>G (p.(Ile111Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154150874A>G" "" "likely benign" ""
"0000574604" "0" "30" "X" "153416362" "153416362" "subst" "0.000489677" "01943" "OPN1LW_000006" "g.153416362C>A" "" "" "" "OPN1LW(NM_020061.4):c.347C>A (p.(Ser116Tyr)), OPN1LW(NM_020061.5):c.347C>A (p.S116Y), OPN1LW(NM_020061.6):c.347C>A (p.S116Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154150890C>A" "" "likely benign" ""
"0000574606" "0" "50" "X" "153418491" "153418491" "subst" "0.000359001" "01943" "OPN1LW_000008" "g.153418491G>T" "" "" "" "OPN1LW(NM_020061.4):c.488G>T (p.(Arg163Ile)), OPN1LW(NM_020061.5):c.488G>T (p.R163I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154153018G>T" "" "VUS" ""
"0000574607" "0" "90" "X" "153418514" "153418514" "subst" "0.135162" "02327" "OPN1LW_000033" "g.153418514G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154153041G>A" "" "pathogenic" ""
"0000574608" "0" "90" "X" "153418516" "153418516" "subst" "0.135708" "02327" "OPN1LW_000034" "g.153418516G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154153043G>T" "" "pathogenic" ""
"0000574609" "0" "90" "X" "153418535" "153418535" "subst" "0.0163943" "02327" "OPN1LW_000035" "g.153418535A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154153062A>G" "" "pathogenic" ""
"0000574611" "0" "50" "X" "153421851" "153421851" "subst" "0" "02327" "OPN1LW_000036" "g.153421851C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154156376C>A" "" "VUS" ""
"0000574612" "0" "50" "X" "153421944" "153421944" "subst" "5.6352E-6" "01943" "OPN1LW_000037" "g.153421944C>T" "" "" "" "OPN1LW(NM_020061.5):c.920C>T (p.P307L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154156469C>T" "" "VUS" ""
"0000574613" "0" "30" "X" "153421950" "153421950" "subst" "0.000377673" "01943" "OPN1LW_000017" "g.153421950A>T" "" "" "" "OPN1LW(NM_020061.5):c.926A>T (p.Y309F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154156475A>T" "" "likely benign" ""
"0000574614" "0" "30" "X" "153421981" "153421981" "subst" "6.76334E-5" "01943" "OPN1LW_000018" "g.153421981C>T" "" "" "" "OPN1LW(NM_020061.5):c.957C>T (p.P319=), OPN1LW(NM_020061.6):c.957C>T (p.P319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154156506C>T" "" "likely benign" ""
"0000619231" "0" "30" "X" "153409788" "153409788" "subst" "0" "01943" "OPN1LW_000038" "g.153409788G>C" "" "" "" "OPN1LW(NM_020061.5):c.31G>C (p.A11P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154144314G>C" "" "likely benign" ""
"0000619232" "0" "30" "X" "153416216" "153416216" "subst" "3.38495E-5" "01943" "OPN1LW_000039" "g.153416216C>T" "" "" "" "OPN1LW(NM_020061.5):c.201C>T (p.S67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154150744C>T" "" "likely benign" ""
"0000619233" "0" "90" "X" "153418430" "153418436" "dup" "0" "01943" "OPN1LW_000040" "g.153418430_153418436dup" "" "" "" "OPN1LW(NM_020061.5):c.427_433dupTCTCTGG (p.A145Vfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154152957_154152963dup" "" "pathogenic" ""
"0000619234" "0" "30" "X" "153421876" "153421876" "subst" "3.37984E-5" "02327" "OPN1LW_000041" "g.153421876C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154156401C>T" "" "likely benign" ""
"0000659191" "0" "50" "X" "153421838" "153421838" "subst" "1.12696E-5" "01943" "OPN1LW_000042" "g.153421838G>A" "" "" "" "OPN1LW(NM_020061.5):c.814G>A (p.V272M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154156363G>A" "" "VUS" ""
"0000682249" "0" "30" "X" "153416156" "153416156" "subst" "2.29134E-5" "01943" "OPN1LW_000043" "g.153416156C>T" "" "" "" "OPN1LW(NM_020061.5):c.141C>T (p.I47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682250" "0" "30" "X" "153416209" "153416209" "subst" "0" "01943" "OPN1LW_000029" "g.153416209C>T" "" "" "" "OPN1LW(NM_020061.4):c.194C>T (p.(Thr65Ile)), OPN1LW(NM_020061.5):c.194C>T (p.T65I), OPN1LW(NM_020061.6):c.194C>T (p.T65I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000685327" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_020061.5:c.745_984del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685329" "1" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1LW: c.[552G>A;573A>G;579T>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685330" "1" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1LW: c.[552G>A;573A>G]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685332" "0" "90" "X" "153409766" "153455983" "del" "0" "00004" "OPN1LW_000044" "g.153409766_153455983del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.9_OPN1MW_578+271del46217" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685333" "0" "70" "X" "153453504" "153453504" "subst" "0" "00004" "OPN1LW_000045" "g.153453504G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1MW del; c.358G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685572" "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"
"0000685574" "1" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1LW del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685575" "1" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "OPN1LW del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000784630" "0" "50" "X" "153421916" "153421916" "subst" "0.000276154" "00000" "OPN1LW_000016" "g.153421916G>C" "1/205 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/933 control chromosomes" "Germline" "" "" "0" "" "" "g.154156441G>C" "" "VUS" ""
"0000784659" "0" "50" "X" "153421886" "153421886" "subst" "1.68989E-5" "00000" "OPN1LW_000046" "g.153421886G>A" "1/205 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/933 control chromosomes" "Germline" "" "" "0" "" "" "g.154156411G>A" "" "VUS" ""
"0000786432" "0" "90" "X" "153420209" "153420209" "subst" "0" "00000" "OPN1LW_000047" "g.153420209C>T" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "" "" "0" "" "" "g.154154734C>T" "" "pathogenic" ""
"0000810114" "0" "30" "X" "153409762" "153409762" "subst" "2.94982E-5" "01804" "OPN1LW_000048" "g.153409762C>T" "" "" "" "OPN1LW(NM_020061.4):c.5C>T (p.(Ala2Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810115" "0" "30" "X" "153409801" "153409801" "subst" "4.14473E-5" "01943" "OPN1LW_000049" "g.153409801C>T" "" "" "" "OPN1LW(NM_020061.5):c.44C>T (p.P15L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810116" "0" "50" "X" "153416280" "153416280" "subst" "0" "02327" "OPN1LW_000050" "g.153416280A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810117" "0" "50" "X" "153416373" "153416373" "subst" "0" "02325" "OPN1LW_000045" "g.153416373G>A" "" "" "" "OPN1LW(NM_020061.6):c.358G>A (p.V120M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810118" "0" "30" "X" "153420181" "153420181" "subst" "0" "01943" "OPN1LW_000051" "g.153420181C>G" "" "" "" "OPN1LW(NM_020061.5):c.711C>G (p.L237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810119" "0" "30" "X" "153421877" "153421877" "subst" "0.000501445" "01943" "OPN1LW_000052" "g.153421877A>G" "" "" "" "OPN1LW(NM_020061.5):c.853A>G (p.T285A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810120" "0" "50" "X" "153421952" "153421952" "subst" "5.63364E-6" "01943" "OPN1LW_000053" "g.153421952T>A" "" "" "" "OPN1LW(NM_020061.5):c.928T>A (p.F310I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000823259" "20" "50" "X" "153420077" "153420077" "subst" "0" "00000" "OPN1LW_000023" "g.153420077T>C" "" "{PMID:Hull 2020:32856788}" "" "OPN1LW nucleotide 1, protein 1:c.607T>C, p.Cys203Arg nucleotide 2, protein 2:-," "hemizygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.154154602T>C" "" "VUS" ""
"0000856438" "0" "50" "X" "153418499" "153418499" "subst" "6.07441E-6" "02327" "OPN1LW_000009" "g.153418499G>T" "" "" "" "OPN1LW(NM_020061.4):c.496G>T (p.(Ala166Ser)), OPN1LW(NM_020061.5):c.496G>T (p.A166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000856439" "0" "90" "X" "153421915" "153421915" "subst" "0" "02327" "OPN1LW_000015" "g.153421915C>G" "" "" "" "OPN1LW(NM_020061.5):c.891C>G (p.Y297*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000867195" "0" "30" "X" "153420112" "153420112" "subst" "6.26913E-5" "01943" "OPN1LW_000054" "g.153420112C>T" "" "" "" "OPN1LW(NM_020061.5):c.642C>T (p.P214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000867196" "0" "50" "X" "153421916" "153421916" "subst" "0.000276154" "01943" "OPN1LW_000016" "g.153421916G>C" "" "" "" "OPN1LW(NM_020061.5):c.892G>C (p.A298P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896002" "0" "50" "X" "153418469" "153418469" "subst" "0" "02327" "OPN1LW_000055" "g.153418469T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896003" "0" "90" "X" "153421876" "153421876" "subst" "0" "02330" "OPN1LW_000027" "g.153421876C>A" "" "" "" "OPN1LW(NM_020061.6):c.852C>A (p.Y284*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000915643" "0" "50" "X" "153416283" "153416283" "subst" "0" "02327" "OPN1LW_000056" "g.153416283T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000915645" "0" "50" "X" "153418541" "153418541" "subst" "0.22331" "02327" "OPN1LW_000001" "g.153418541T>G" "" "" "" "OPN1LW(NM_020061.6):c.538T>G (p.S180A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000927283" "0" "50" "X" "153416316" "153416316" "subst" "0" "02327" "OPN1LW_000030" "g.153416316G>C" "" "" "" "OPN1LW(NM_020061.5):c.301G>C (p.A101P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000927284" "0" "50" "X" "153421945" "153421945" "subst" "1.12713E-5" "02327" "OPN1LW_000057" "g.153421945G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000958089" "20" "10" "X" "153418535" "153418535" "subst" "0.0163943" "00006" "OPN1LW_000035" "g.153418535A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BS1, BS2, BP4, BP6_STRONG" "Germline" "" "" "0" "" "" "g.154153062A>G" "" "benign" "ACMG"
"0000958090" "20" "10" "X" "153418535" "153418535" "subst" "0.0163943" "00006" "OPN1LW_000035" "g.153418535A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BS1, BS2, BP4, BP6_STRONG" "Germline" "" "" "0" "" "" "g.154153062A>G" "" "benign" "ACMG"
"0000958091" "20" "70" "X" "153420077" "153420077" "subst" "0" "00006" "OPN1LW_000023" "g.153420077T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.154154602T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000958092" "20" "70" "X" "153400836" "153408770" "del" "0" "00006" "USP9X_000005" "g.153400836_153408770del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000958093" "20" "10" "X" "153418535" "153418535" "subst" "0.0163943" "00006" "OPN1LW_000035" "g.153418535A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BS1, BS2, BP4, BP6_STRONG" "Germline" "" "" "0" "" "" "g.154153062A>G" "" "benign" "ACMG"
"0000958094" "20" "70" "X" "153420077" "153420077" "subst" "0" "00006" "OPN1LW_000023" "g.153420077T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.154154602T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000958095" "0" "70" "X" "153420077" "153420077" "subst" "0" "00006" "OPN1LW_000023" "g.153420077T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.154154602T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000958096" "0" "70" "X" "153400711" "153414443" "del" "0" "00006" "USP9X_000005" "g.153400711_153414443del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000958472" "20" "10" "X" "153418541" "153418541" "subst" "0.22331" "00006" "OPN1LW_000001" "g.153418541T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BA1, BS2, BP6" "Germline" "" "" "0" "" "" "g.154153068=" "" "benign" "ACMG"
"0000958474" "20" "10" "X" "153418541" "153418541" "subst" "0.22331" "00006" "OPN1LW_000001" "g.153418541T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BA1, BS2, BP6" "Germline" "" "" "0" "" "" "g.154153068=" "" "benign" "ACMG"
"0000958475" "20" "10" "X" "153418541" "153418541" "subst" "0.22331" "00006" "OPN1LW_000001" "g.153418541T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BA1, BS2, BP6" "Germline" "" "" "0" "" "" "g.154153068=" "" "benign" "ACMG"
"0000959142" "21" "10" "X" "153418535" "153418535" "subst" "0.0163943" "00006" "OPN1LW_000035" "g.153418535A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BS1, BS2, BP4, BP6_STRONG" "Germline" "" "" "0" "" "" "g.154153062A>G" "" "benign" "ACMG"
"0000959143" "21" "10" "X" "153418541" "153418541" "subst" "0.22331" "00006" "OPN1LW_000001" "g.153418541T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BA1, BS2, BP6" "Germline" "" "" "0" "" "" "g.154153068=" "" "benign" "ACMG"
"0000970902" "0" "50" "X" "153418437" "153418437" "subst" "0" "02327" "OPN1LW_000058" "g.153418437C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000986474" "1" "70" "X" "153420079" "153420079" "subst" "0" "04405" "OPN1LW_000060" "g.153420079C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.154154604C>A" "" "likely pathogenic" "ACMG"
"0000986475" "1" "50" "X" "153416319" "153416319" "subst" "0" "04405" "OPN1LW_000059" "g.153416319G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.154150847G>A" "" "VUS" "ACMG"
"0000986476" "1" "50" "X" "153421938" "153421938" "subst" "0" "04405" "OPN1LW_000061" "g.153421938C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.154156463C>T" "" "VUS" "ACMG"
"0001006560" "0" "50" "X" "153418499" "153418499" "subst" "6.07441E-6" "01804" "OPN1LW_000009" "g.153418499G>T" "" "" "" "OPN1LW(NM_020061.4):c.496G>T (p.(Ala166Ser)), OPN1LW(NM_020061.5):c.496G>T (p.A166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 OPN1LW
## Count = 97
"{{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}}"
"0000008058" "00001341" "50" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000010237" "00001341" "50" "409" "113" "409" "113" "c.409+113A>C" "r.(=)" "p.(=)" ""
"0000010238" "00001341" "50" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000010239" "00001341" "50" "579" "-290" "579" "-290" "c.579-290G>T" "r.(=)" "p.(=)" ""
"0000248847" "00001341" "10" "706" "0" "706" "0" "c.706A>G" "r.(?)" "p.(Met236Val)" ""
"0000256311" "00001341" "50" "706" "0" "706" "0" "c.706A>C" "r.(?)" "p.(Met236Leu)" ""
"0000293375" "00001341" "10" "347" "0" "347" "0" "c.347C>A" "r.(?)" "p.(Ser116Tyr)" ""
"0000293376" "00001341" "30" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000293377" "00001341" "10" "689" "0" "689" "0" "c.689T>C" "r.(?)" "p.(Ile230Thr)" ""
"0000293378" "00001341" "10" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(Pro319=)" ""
"0000296684" "00001341" "10" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000304797" "00001341" "30" "483" "0" "483" "0" "c.483T>C" "r.(?)" "p.(Asn161=)" ""
"0000304798" "00001341" "30" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Ala166Ser)" ""
"0000304799" "00001341" "50" "728" "0" "728" "0" "c.728G>T" "r.(?)" "p.(Trp243Leu)" ""
"0000304800" "00001341" "50" "730" "0" "730" "0" "c.730C>G" "r.(?)" "p.(Leu244Val)" ""
"0000304801" "00001341" "90" "891" "0" "891" "0" "c.891C>G" "r.(?)" "p.(Tyr297Ter)" ""
"0000336163" "00001341" "50" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Thr65Ile)" ""
"0000336164" "00001341" "50" "347" "0" "347" "0" "c.347C>A" "r.(?)" "p.(Ser116Tyr)" ""
"0000336165" "00001341" "50" "488" "0" "488" "0" "c.488G>T" "r.(?)" "p.(Arg163Ile)" ""
"0000339484" "00001341" "30" "849" "0" "849" "0" "c.849C>A" "r.(?)" "p.(Pro283=)" ""
"0000341218" "00001341" "90" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ala174Val)" ""
"0000342484" "00001341" "90" "802" "0" "804" "0" "c.802_804delinsG" "r.(?)" "p.(Arg268AspfsTer74)" ""
"0000344306" "00001341" "90" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Cys203Arg)" ""
"0000347021" "00001341" "50" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Leu240Arg)" ""
"0000348670" "00001341" "30" "347" "0" "347" "0" "c.347C>G" "r.(?)" "p.(Ser116Cys)" ""
"0000350025" "00001341" "90" "852" "0" "852" "0" "c.852C>A" "r.(?)" "p.(Tyr284Ter)" ""
"0000350346" "00001341" "90" "511" "0" "513" "0" "c.511_513delinsATT" "r.(?)" "p.(Val171Ile)" ""
"0000357909" "00001341" "50" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" "3"
"0000357910" "00001341" "50" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" "3"
"0000408064" "00001341" "00" "-698952" "0" "186600" "0" "c.-698952_*185505dup" "r.0?" "p.0?" ""
"0000574600" "00001341" "10" "113" "-19" "113" "-19" "c.113-19C>G" "r.(=)" "p.(=)" ""
"0000574601" "00001341" "10" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Thr65Ile)" ""
"0000574602" "00001341" "50" "301" "0" "301" "0" "c.301G>C" "r.(?)" "p.(Ala101Pro)" ""
"0000574603" "00001341" "30" "331" "0" "331" "0" "c.331A>G" "r.(?)" "p.(Ile111Val)" ""
"0000574604" "00001341" "30" "347" "0" "347" "0" "c.347C>A" "r.(?)" "p.(Ser116Tyr)" ""
"0000574606" "00001341" "50" "488" "0" "488" "0" "c.488G>T" "r.(?)" "p.(Arg163Ile)" ""
"0000574607" "00001341" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Val171Met)" ""
"0000574608" "00001341" "90" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Val171=)" ""
"0000574609" "00001341" "90" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" ""
"0000574611" "00001341" "50" "827" "0" "827" "0" "c.827C>A" "r.(?)" "p.(Ala276Glu)" ""
"0000574612" "00001341" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Pro307Leu)" ""
"0000574613" "00001341" "30" "926" "0" "926" "0" "c.926A>T" "r.(?)" "p.(Tyr309Phe)" ""
"0000574614" "00001341" "30" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(Pro319=)" ""
"0000619231" "00001341" "30" "31" "0" "31" "0" "c.31G>C" "r.(?)" "p.(Ala11Pro)" ""
"0000619232" "00001341" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Ser67=)" ""
"0000619233" "00001341" "90" "427" "0" "433" "0" "c.427_433dup" "r.(?)" "p.(Ala145ValfsTer23)" ""
"0000619234" "00001341" "30" "852" "0" "852" "0" "c.852C>T" "r.(?)" "p.(Tyr284=)" ""
"0000659191" "00001341" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Met)" ""
"0000682249" "00001341" "30" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(Ile47=)" ""
"0000682250" "00001341" "30" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Thr65Ile)" ""
"0000685327" "00001341" "90" "0" "0" "0" "0" "c.?" "r.?" "p.(Val249_Gln328del)" ""
"0000685329" "00001341" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000685330" "00001341" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000685332" "00001341" "90" "" "0" "" "0" "c.9_OPN1MW_578+271del46217" "r.?" "p.?" ""
"0000685333" "00001341" "70" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Val120Met)" ""
"0000685572" "00001341" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000685574" "00001341" "90" "0" "0" "0" "0" "c.?" "r.0" "p.0" ""
"0000685575" "00001341" "90" "0" "0" "0" "0" "c.?" "r.0" "p.0" ""
"0000784630" "00001341" "50" "892" "0" "892" "0" "c.892G>C" "r.(?)" "p.(Ala298Pro)" ""
"0000784659" "00001341" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Ala288Thr)" ""
"0000786432" "00001341" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Ter)" ""
"0000810114" "00001341" "30" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" ""
"0000810115" "00001341" "30" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Pro15Leu)" ""
"0000810116" "00001341" "50" "265" "0" "265" "0" "c.265A>G" "r.(?)" "p.(Asn89Asp)" ""
"0000810117" "00001341" "50" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Val120Met)" ""
"0000810118" "00001341" "30" "711" "0" "711" "0" "c.711C>G" "r.(?)" "p.(Leu237=)" ""
"0000810119" "00001341" "30" "853" "0" "853" "0" "c.853A>G" "r.(?)" "p.(Thr285Ala)" ""
"0000810120" "00001341" "50" "928" "0" "928" "0" "c.928T>A" "r.(?)" "p.(Phe310Ile)" ""
"0000823259" "00001341" "50" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Cys203Arg)" ""
"0000856438" "00001341" "50" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Ala166Ser)" ""
"0000856439" "00001341" "90" "891" "0" "891" "0" "c.891C>G" "r.(?)" "p.(Tyr297Ter)" ""
"0000867195" "00001341" "30" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Pro214=)" ""
"0000867196" "00001341" "50" "892" "0" "892" "0" "c.892G>C" "r.(?)" "p.(Ala298Pro)" ""
"0000896002" "00001341" "50" "466" "0" "466" "0" "c.466T>C" "r.(?)" "p.(Cys156Arg)" ""
"0000896003" "00001341" "90" "852" "0" "852" "0" "c.852C>A" "r.(?)" "p.(Tyr284Ter)" ""
"0000915643" "00001341" "50" "268" "0" "268" "0" "c.268T>C" "r.(?)" "p.(Trp90Arg)" ""
"0000915645" "00001341" "50" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000927283" "00001341" "50" "301" "0" "301" "0" "c.301G>C" "r.(?)" "p.(Ala101Pro)" ""
"0000927284" "00001341" "50" "921" "0" "921" "0" "c.921G>A" "r.(?)" "p.(Pro307=)" ""
"0000958089" "00001341" "10" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" ""
"0000958090" "00001341" "10" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" ""
"0000958091" "00001341" "70" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Cys203Arg)" ""
"0000958092" "00001341" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000958093" "00001341" "10" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" ""
"0000958094" "00001341" "70" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Cys203Arg)" ""
"0000958095" "00001341" "70" "607" "0" "607" "0" "c.607T>C" "r.(?)" "p.(Cys203Arg)" ""
"0000958096" "00001341" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000958472" "00001341" "10" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000958474" "00001341" "10" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000958475" "00001341" "10" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000959142" "00001341" "10" "532" "0" "532" "0" "c.532A>G" "r.(?)" "p.(Ile178Val)" ""
"0000959143" "00001341" "10" "538" "0" "538" "0" "c.538T>G" "r.(?)" "p.(Ser180Ala)" ""
"0000970902" "00001341" "50" "434" "0" "434" "0" "c.434C>G" "r.(?)" "p.(Ala145Gly)" ""
"0000986474" "00001341" "70" "609" "0" "609" "0" "c.609C>A" "r.(?)" "p.(Cys203Ter)" "4"
"0000986475" "00001341" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "2"
"0000986476" "00001341" "50" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Ala305Val)" "5"
"0001006560" "00001341" "50" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Ala166Ser)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 35
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000008058"
"0000000210" "0000010237"
"0000000210" "0000010238"
"0000000210" "0000010239"
"0000156058" "0000357909"
"0000156059" "0000357910"
"0000184095" "0000408064"
"0000310416" "0000685327"
"0000310417" "0000685574"
"0000310418" "0000685329"
"0000310418" "0000685575"
"0000310419" "0000685330"
"0000310420" "0000685572"
"0000310421" "0000685332"
"0000310422" "0000685333"
"0000373924" "0000784630"
"0000373962" "0000784659"
"0000375137" "0000786432"
"0000392824" "0000823259"
"0000448603" "0000958089"
"0000448603" "0000958472"
"0000448604" "0000958090"
"0000448604" "0000958474"
"0000448605" "0000958091"
"0000448606" "0000958092"
"0000448607" "0000958093"
"0000448607" "0000958475"
"0000448608" "0000958094"
"0000448609" "0000958095"
"0000448610" "0000958096"
"0000448946" "0000959142"
"0000448946" "0000959143"
"0000452491" "0000986474"
"0000452492" "0000986475"
"0000452493" "0000986476"