### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PDE6G)
# 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}}"
"PDE6G"	"phosphodiesterase 6G, cGMP-specific, rod, gamma"	"17"	"q21.1"	"unknown"	"NG_009834.2"	"UD_132085444431"	""	"https://www.LOVD.nl/PDE6G"	""	"1"	"8789"	"5148"	"180073"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/PDE6G_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-11-24 00:00:00"	"00006"	"2020-08-30 09:25:36"	"00006"	"2025-11-21 15:48:18"


## 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}}"
"00015887"	"PDE6G"	"transcript variant 1"	"002"	"NM_002602.3"	""	"NP_002593.1"	""	""	""	"-144"	"879"	"264"	"79623607"	"79617489"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"03366"	"RP57"	"retinitis pigmentosa, type 57 (RP57)"	"AR"	"613582"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-08-30 09:26:24"
"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}}"
"PDE6G"	"03366"
"PDE6G"	"04214"


## Individuals ## Do not remove or alter this header ##
## Count = 20
"{{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}}"
"00155522"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00233498"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233499"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00291895"	""	""	""	"51"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304613"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309297"	""	""	""	"4"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"4 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309620"	""	""	""	"1"	""	"00006"	"{PMID:Dvir 2010:20655036}"	"extended 4-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Israel"	""	"0"	""	""	"Arab Muslim"	"FamTB14"
"00358963"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case71762"
"00359318"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2017:27160483}"	"see paper"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"30120"
"00372651"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP382"
"00372652"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP331"
"00372712"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP234"
"00376763"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"25"
"00384180"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-3027"
"00389531"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 332, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"815"
"00407356"	""	""	""	"1"	""	"00000"	"{PMID:Borràs 2013:23534816}"	""	""	""	"Spain"	""	"0"	""	""	"Spanish"	"RP-95"
"00429484"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00429980"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430135"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00447664"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"CD-584"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 20
"{{individualid}}"	"{{diseaseid}}"
"00155522"	"04214"
"00233498"	"04214"
"00233499"	"04214"
"00291895"	"00198"
"00304613"	"00198"
"00309297"	"04214"
"00309620"	"04214"
"00358963"	"04214"
"00359318"	"04214"
"00372651"	"04214"
"00372652"	"04214"
"00372712"	"04214"
"00376763"	"04214"
"00384180"	"04214"
"00389531"	"04214"
"00407356"	"04214"
"00429484"	"00112"
"00429980"	"00112"
"00430135"	"00112"
"00447664"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 03366, 04214
## Count = 16
"{{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}}"
"0000128022"	"04214"	"00155522"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234617"	"04214"	"00309297"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234940"	"04214"	"00309620"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., severe early-onset retinitis pigmentosa"	""	""	""	""	""	""	""	""	"RP57"	"retinitis pigmentosa"	""
"0000254261"	"04214"	"00358963"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254614"	"04214"	"00359318"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000267930"	"04214"	"00372651"	"00000"	"Familial, autosomal recessive"	"15y"	"see paper; ..."	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267931"	"04214"	"00372652"	"00000"	"Familial, autosomal recessive"	"43y"	"see paper; ..."	"33y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267991"	"04214"	"00372712"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271974"	"04214"	"00376763"	"00000"	"Familial, autosomal recessive"	"35y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000277965"	"04214"	"00384180"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000283072"	"04214"	"00389531"	"00000"	"Familial, autosomal recessive"	"31y"	"age at genetic diagnosis mentioned"	""	"29y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000299710"	"04214"	"00407356"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"severe autosomal dominant retinitis pigmentosa (adRP)"	""
"0000320356"	"00112"	"00429484"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320852"	"00112"	"00429980"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321007"	"00112"	"00430135"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336863"	"00198"	"00447664"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 20
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000156387"	"00155522"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000234597"	"00233498"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234598"	"00233499"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000293063"	"00291895"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305742"	"00304613"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000310442"	"00309297"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310765"	"00309620"	"1"	"00006"	"00006"	"2020-08-30 09:32:58"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000360200"	"00358963"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360559"	"00359318"	"1"	"00000"	"00006"	"2021-03-19 13:20:32"	""	""	"SEQ-NG"	"DNA"	""	"105-gene panel"
"0000373883"	"00372651"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373884"	"00372652"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373944"	"00372712"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000377969"	"00376763"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000385405"	"00384180"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000390774"	"00389531"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000408604"	"00407356"	"1"	"00000"	"00008"	"2022-04-06 13:32:24"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000430897"	"00429484"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431393"	"00429980"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431548"	"00430135"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000449241"	"00447664"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}"	"{{geneid}}"
"0000156387"	"PDE6G"
"0000234597"	"PDE6G"
"0000234598"	"PDE6G"
"0000310442"	"PDE6G"
"0000310765"	"PDE6G"
"0000360559"	"PDE6G"
"0000385405"	"PDE6G"
"0000390774"	"PDE6G"
"0000408604"	"SLC1A7"
"0000430897"	"PDE6G"
"0000431393"	"PDE6G"
"0000431548"	"PDE6G"


## 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 = 28
"{{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}}"
"0000293634"	"0"	"10"	"17"	"79618706"	"79618706"	"subst"	"0.00256431"	"02330"	"PDE6G_000001"	"g.79618706G>A"	""	""	""	"PDE6G(NM_002602.3):c.156C>T (p.D52=), PDE6G(NM_002602.4):c.156C>T (p.D52=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81651676G>A"	""	"benign"	""
"0000293635"	"0"	"10"	"17"	"79620285"	"79620285"	"subst"	"6.15849E-5"	"02330"	"PDE6G_000002"	"g.79620285G>A"	""	""	""	"PDE6G(NM_002602.3):c.51C>T (p.A17=), PDE6G(NM_002602.4):c.51C>T (p.A17=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.81653255G>A"	""	"benign"	""
"0000358309"	"3"	"90"	"17"	"79618674"	"79618674"	"subst"	"0"	"01243"	"PDE6G_000003"	"g.79618674C>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81651644C>A"	""	"pathogenic"	""
"0000477305"	"3"	"50"	"17"	"79620280"	"79620280"	"subst"	"0"	"02591"	"PDE6G_000004"	"g.79620280C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81653250C>A"	""	"VUS"	""
"0000477306"	"0"	"50"	"17"	"79620330"	"79620330"	"subst"	"4.5335E-5"	"02591"	"PDE6G_000005"	"g.79620330G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs766951952"	"0"	""	""	"g.81653300G>T"	""	"VUS"	""
"0000563708"	"0"	"10"	"17"	"79618706"	"79618706"	"subst"	"0.00256431"	"01943"	"PDE6G_000001"	"g.79618706G>A"	""	""	""	"PDE6G(NM_002602.3):c.156C>T (p.D52=), PDE6G(NM_002602.4):c.156C>T (p.D52=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81651676G>A"	""	"benign"	""
"0000563709"	"0"	"30"	"17"	"79620285"	"79620285"	"subst"	"6.15849E-5"	"01943"	"PDE6G_000002"	"g.79620285G>A"	""	""	""	"PDE6G(NM_002602.3):c.51C>T (p.A17=), PDE6G(NM_002602.4):c.51C>T (p.A17=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81653255G>A"	""	"likely benign"	""
"0000616925"	"0"	"30"	"17"	"79623520"	"79623520"	"subst"	"0"	"01943"	"PDE6G_000006"	"g.79623520C>T"	""	""	""	"PDE6G(NM_002602.3):c.-60+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.81656490C>T"	""	"likely benign"	""
"0000649752"	"1"	"30"	"17"	"79623591"	"79623591"	"subst"	"0.0233187"	"03575"	"PDE6G_000007"	"g.79623591C>T"	"51/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"51 heterozygous; {DB:CLININrs56125934}"	"Germline"	""	"rs56125934"	"0"	""	""	"g.81656561C>T"	""	"likely benign"	""
"0000669430"	"3"	"30"	"17"	"79623591"	"79623591"	"subst"	"0.0233187"	"03575"	"PDE6G_000007"	"g.79623591C>T"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs56125934}"	"Germline"	""	"rs56125934"	"0"	""	""	"g.81656561C>T"	""	"likely benign"	""
"0000685353"	"0"	"90"	"17"	"79618674"	"79618674"	"subst"	"0"	"00004"	"PDE6G_000003"	"g.79618674C>A"	"4/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685743"	"3"	"90"	"17"	"79618674"	"79618674"	"subst"	"0"	"00006"	"PDE6G_000003"	"g.79618674C>A"	""	"{PMID:Dvir 2010:20655036}"	""	""	"effect on splicing predicted form expression cloning mini-gene"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000726770"	"0"	"50"	"17"	"79620335"	"79620335"	"subst"	"8.70618E-5"	"02330"	"PDE6G_000008"	"g.79620335T>C"	""	""	""	"PDE6G(NM_002602.4):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000760024"	"0"	"50"	"17"	"79620200"	"79620200"	"subst"	"0"	"00000"	"PDE6G_000009"	"g.79620200C>G"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81653170C>G"	""	"VUS"	""
"0000760591"	"1"	"90"	"17"	"79620227"	"79620227"	"subst"	"4.10203E-6"	"00000"	"PDE6G_000010"	"g.79620227G>A"	""	"{PMID:Khan 2017:27160483}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81653197G>A"	""	"pathogenic"	""
"0000784257"	"0"	"70"	"17"	"79620330"	"79620330"	"subst"	"4.5335E-5"	"00000"	"PDE6G_000005"	"g.79620330G>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81653300G>T"	""	"likely pathogenic (recessive)"	""
"0000784397"	"0"	"70"	"17"	"79620330"	"79620330"	"subst"	"4.5335E-5"	"00000"	"PDE6G_000005"	"g.79620330G>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81653300G>T"	""	"likely pathogenic (recessive)"	""
"0000784410"	"0"	"70"	"17"	"79620330"	"79620330"	"subst"	"4.5335E-5"	"00000"	"PDE6G_000005"	"g.79620330G>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81653300G>T"	""	"likely pathogenic (recessive)"	""
"0000790419"	"3"	"70"	"17"	"79620227"	"79620227"	"subst"	"4.10203E-6"	"00000"	"PDE6G_000010"	"g.79620227G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.81653197G>A"	""	"likely pathogenic"	""
"0000812450"	"3"	"70"	"17"	"79620271"	"79620271"	"dup"	"0"	"00000"	"PDE6G_000012"	"g.79620271dup"	""	"{PMID:Martin Merida 2019:30902645}"	""	"PDE6G Ex.2 c.69dup p.(Arg24Glnfs*6), Ex.2 c.69dup p.(Arg24Glnfs*6)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.81653241dup"	""	"likely pathogenic"	""
"0000820119"	"1"	"70"	"17"	"79618164"	"79618164"	"del"	"0"	"00000"	"PDE6G_000013"	"g.79618164del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PDE6G, variant 1: c.206del/p.P69Lfs*25, variant 2: c.206del/p.P69Lfs*25"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.81651134del"	""	"likely pathogenic"	""
"0000845529"	"0"	"30"	"17"	"79620348"	"79620348"	"del"	"0.0600654"	"00000"	"PDE6G_000014"	"g.79620348del"	"Novel"	"{PMID:Borràs 2013:23534816}"	""	"c.-14delC"	""	"Germline"	"no"	""	"0"	""	""	""	""	"likely benign"	""
"0000915786"	"3"	"70"	"17"	"79618674"	"79618674"	"subst"	"0"	"04436"	"PDE6G_000003"	"g.79618674C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.187+1G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916521"	"1"	"70"	"17"	"79620236"	"79620236"	"subst"	"0"	"04436"	"PDE6G_000017"	"g.79620236G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.100C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916522"	"2"	"50"	"17"	"79618675"	"79618675"	"subst"	"0"	"04436"	"PDE6G_000015"	"g.79618675C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.187G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916754"	"3"	"70"	"17"	"79620189"	"79620189"	"subst"	"0"	"04436"	"PDE6G_000016"	"g.79620189C>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.146+1G>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000959448"	"0"	"50"	"17"	"79623507"	"79623522"	"del"	"0"	"00006"	"PDE6G_000018"	"g.79623507_79623522del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, BP4; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.81656477_81656492del"	""	"VUS"	"ACMG"
"0000982900"	"0"	"30"	"17"	"79620187"	"79620187"	"subst"	"4.10213E-6"	"01804"	"PDE6G_000019"	"g.79620187T>C"	""	""	""	"PDE6G(NM_002602.4):c.146+3A>G"	"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 PDE6G
## Count = 28
"{{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}}"
"0000293634"	"00015887"	"10"	"156"	"0"	"156"	"0"	"c.156C>T"	"r.(?)"	"p.(Asp52=)"	""
"0000293635"	"00015887"	"10"	"51"	"0"	"51"	"0"	"c.51C>T"	"r.(?)"	"p.(Ala17=)"	""
"0000358309"	"00015887"	"90"	"187"	"1"	"187"	"1"	"c.187+1G>T"	"r.spl"	"p.?"	"3i"
"0000477305"	"00015887"	"50"	"56"	"0"	"56"	"0"	"c.56G>T"	"r.(?)"	"p.(Gly19Val)"	""
"0000477306"	"00015887"	"50"	"6"	"0"	"6"	"0"	"c.6C>A"	"r.(?)"	"p.(Asn2Lys)"	""
"0000563708"	"00015887"	"10"	"156"	"0"	"156"	"0"	"c.156C>T"	"r.(?)"	"p.(Asp52=)"	""
"0000563709"	"00015887"	"30"	"51"	"0"	"51"	"0"	"c.51C>T"	"r.(?)"	"p.(Ala17=)"	""
"0000616925"	"00015887"	"30"	"-60"	"3"	"-60"	"3"	"c.-60+3G>A"	"r.spl?"	"p.?"	""
"0000649752"	"00015887"	"30"	"-128"	"0"	"-128"	"0"	"c.-128G>A"	"r.(=)"	"p.(=)"	""
"0000669430"	"00015887"	"30"	"-128"	"0"	"-128"	"0"	"c.-128G>A"	"r.(=)"	"p.(=)"	""
"0000685353"	"00015887"	"90"	"187"	"1"	"187"	"1"	"c.187+1G>T"	"r.spl"	"p.?"	""
"0000685743"	"00015887"	"90"	"187"	"1"	"187"	"1"	"c.187+1G>T"	"r.(187_188ins[u;187+2_187+28])"	"p.?"	"3i"
"0000726770"	"00015887"	"50"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000760024"	"00015887"	"50"	"136"	"0"	"136"	"0"	"c.136G>C"	"r.(?)"	"p.(Gly46Arg)"	""
"0000760591"	"00015887"	"90"	"109"	"0"	"109"	"0"	"c.109C>T"	"r.(?)"	"p.(Gln37Ter)"	""
"0000784257"	"00015887"	"70"	"6"	"0"	"6"	"0"	"c.6C>A"	"r.(?)"	"p.(Asn2Lys)"	""
"0000784397"	"00015887"	"70"	"6"	"0"	"6"	"0"	"c.6C>A"	"r.(?)"	"p.(Asn2Lys)"	""
"0000784410"	"00015887"	"70"	"6"	"0"	"6"	"0"	"c.6C>A"	"r.(?)"	"p.(Asn2Lys)"	""
"0000790419"	"00015887"	"70"	"109"	"0"	"109"	"0"	"c.109C>T"	"r.(?)"	"p.(Gln37Ter)"	""
"0000812450"	"00015887"	"70"	"69"	"0"	"69"	"0"	"c.69dup"	"r.(?)"	"p.(Arg24Glnfs*6)"	"2"
"0000820119"	"00015887"	"70"	"206"	"0"	"206"	"0"	"c.206del"	"r.(?)"	"p.(Pro69Leufs*25)"	""
"0000845529"	"00015887"	"30"	"-13"	"0"	"-13"	"0"	"c.-13del"	"r.(=)"	"p.(=)"	"2"
"0000915786"	"00015887"	"70"	"187"	"1"	"187"	"1"	"c.187+1G>T"	"r.spl?"	"p.(?)"	"3i"
"0000916521"	"00015887"	"70"	"100"	"0"	"100"	"0"	"c.100C>T"	"r.(?)"	"p.(Gln34*)"	"2"
"0000916522"	"00015887"	"50"	"187"	"0"	"187"	"0"	"c.187G>T"	"r.(?)"	"p.(Asp63Tyr)"	"3"
"0000916754"	"00015887"	"70"	"146"	"1"	"146"	"1"	"c.146+1G>T"	"r.spl?"	"p.(?)"	"2i"
"0000959448"	"00015887"	"50"	"-60"	"1"	"-60"	"16"	"c.-60+1_-60+16del"	"r.spl"	"p.?"	""
"0000982900"	"00015887"	"30"	"146"	"3"	"146"	"3"	"c.146+3A>G"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 21
"{{screeningid}}"	"{{variantid}}"
"0000156387"	"0000358309"
"0000234597"	"0000477305"
"0000234598"	"0000477306"
"0000293063"	"0000649752"
"0000305742"	"0000669430"
"0000310442"	"0000685353"
"0000310765"	"0000685743"
"0000360200"	"0000760024"
"0000360559"	"0000760591"
"0000373883"	"0000784410"
"0000373884"	"0000784397"
"0000373944"	"0000784257"
"0000377969"	"0000790419"
"0000385405"	"0000812450"
"0000390774"	"0000820119"
"0000408604"	"0000845529"
"0000430897"	"0000915786"
"0000431393"	"0000916521"
"0000431393"	"0000916522"
"0000431548"	"0000916754"
"0000449241"	"0000959448"