### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RP9)
# 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}}"
"RP9"	"retinitis pigmentosa 9 (autosomal dominant)"	"7"	"p14.3"	"unknown"	"NG_012968.1"	"UD_132085336927"	""	"https://www.LOVD.nl/RP9"	""	"1"	"10288"	"6100"	"607331"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font><br>Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/RP9_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2020-11-26 19:14:59"	"00000"	"2024-04-19 20:27:30"


## 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}}"
"00018055"	"RP9"	"retinitis pigmentosa 9 (autosomal dominant)"	"001"	"NM_203288.1"	""	"NP_976033.1"	""	""	""	"-18"	"1103"	"666"	"33149002"	"33134409"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"01542"	"RP9"	"retinitis pigmentosa, type 9 (RP9)"	"AD"	"180104"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"RP9"	"01542"


## Individuals ## Do not remove or alter this header ##
## Count = 18
"{{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}}"
"00033130"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00232843"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232844"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232845"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1198  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232846"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232847"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232848"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232849"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00325460"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"3335"
"00331287"	""	""	""	"1"	""	"00000"	"{PMID:Maeda 2018:29785639}"	"patient, no family history"	"F"	""	"Japan"	""	"0"	""	""	""	"Pat41"
"00335717"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00372650"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP245"
"00375445"	""	""	""	"1"	""	"00000"	"{PMID:Watson 2014:25133751}"	"family"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"PatA"
"00387389"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32100970}"	""	"F"	""	"China"	""	"0"	""	""	""	"9"
"00388508"	""	""	""	"1"	""	"00000"	"{PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15009450"
"00393621"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00394537"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00424209"	""	""	""	"1"	""	"00000"	"{PMID:Keen 2002:12032732}"	"9-generation family, 47 affected individuals; segregation is a strong suggestion of causality, but there is doubt - the original His137Leu variant may be a paralogous variant (concurrent sequence from a gene and a pseudogene) and no additional mutations have been reported to segregate with disease"	"M;F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Southern English"	"?"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 18
"{{individualid}}"	"{{diseaseid}}"
"00033130"	"04214"
"00232843"	"04214"
"00232844"	"04214"
"00232845"	"04214"
"00232846"	"04214"
"00232847"	"04214"
"00232848"	"04214"
"00232849"	"04214"
"00325460"	"04214"
"00331287"	"04214"
"00335717"	"04214"
"00372650"	"04214"
"00375445"	"04214"
"00387389"	"04214"
"00388508"	"04214"
"00393621"	"04214"
"00394537"	"04214"
"00424209"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 01542, 04214
## Count = 11
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000026559"	"04214"	"00033130"	"00229"	"Unknown"	"4y"	"Wilm\'s tumor"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000243947"	"04214"	"00325460"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"
"0000249481"	"04214"	"00331287"	"00000"	"Familial, autosomal dominant"	"46y"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000253637"	"04214"	"00335717"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"
"0000267929"	"04214"	"00372650"	"00000"	"Familial, autosomal dominant"	"60y"	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000270659"	"04214"	"00375445"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000280952"	"04214"	"00387389"	"00000"	"Familial, autosomal dominant"	"33y"	"no lens opacity, peripheral  choroidal atrophy, negative family history, BCVA OD/OS: 0.6/0.5, hypotension"	"12y"	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"
"0000282060"	"04214"	"00388508"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000286827"	"04214"	"00393621"	"00000"	"Isolated (sporadic)"	"23y"	""	""	""	""	""	""	""	""	""	"Macular Degeneration (MD)"
"0000287740"	"04214"	"00394537"	"00000"	"Familial, autosomal dominant"	"51y"	""	"30y"	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"
"0000315404"	"04214"	"00424209"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""


## Screenings ## Do not remove or alter this header ##
## Count = 18
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000033198"	"00033130"	"1"	"00229"	"00229"	"2012-02-04 14:23:49"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000233942"	"00232843"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233943"	"00232844"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233944"	"00232845"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233945"	"00232846"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233946"	"00232847"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233947"	"00232848"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233948"	"00232849"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000326671"	"00325460"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000332507"	"00331287"	"1"	"00000"	"00006"	"2021-02-11 10:36:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"39-gene panel"
"0000336945"	"00335717"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000373882"	"00372650"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376642"	"00375445"	"1"	"00000"	"00006"	"2021-06-04 11:16:10"	""	""	"SEQ-NG"	"DNA"	""	"162-gene panel"
"0000388615"	"00387389"	"1"	"00000"	"03840"	"2021-10-29 09:42:54"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000389749"	"00388508"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000394869"	"00393621"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395784"	"00394537"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000425520"	"00424209"	"1"	"00000"	"03840"	"2022-11-18 13:15:52"	""	""	"STR;SSCA"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 21
"{{screeningid}}"	"{{geneid}}"
"0000033198"	"ABCA4"
"0000033198"	"GUCY2D"
"0000033198"	"NPHP3"
"0000033198"	"PDE6B"
"0000033198"	"RP9"
"0000233942"	"RP9"
"0000233943"	"RP9"
"0000233944"	"RP9"
"0000233945"	"RP9"
"0000233946"	"RP9"
"0000233947"	"RP9"
"0000233948"	"RP9"
"0000326671"	"RP9"
"0000332507"	"RP9"
"0000336945"	"RP9"
"0000376642"	"RP9"
"0000389749"	"BBS9"
"0000389749"	"RP9"
"0000394869"	"RP9"
"0000395784"	"RP9"
"0000425520"	"RP9"


## 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 = 36
"{{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}}"
"0000060419"	"1"	"50"	"7"	"33134883"	"33134883"	"subst"	"0.205175"	"00229"	"RP9_000001"	"g.33134883T>C"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.33095271T>C"	""	"VUS"	""
"0000294991"	"0"	"10"	"7"	"33139016"	"33139016"	"subst"	"0.000467005"	"02330"	"RP9_000005"	"g.33139016T>C"	""	""	""	"RP9(NM_203288.2):c.216A>G (p.P72=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.33099404T>C"	""	"benign"	""
"0000297734"	"0"	"10"	"7"	"33136983"	"33136983"	"subst"	"0.993713"	"02325"	"RP9_000002"	"g.33136983G>A"	""	""	""	"RP9(NM_203288.2):c.314-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.33097371G>A"	""	"benign"	""
"0000307306"	"0"	"50"	"7"	"33138997"	"33138997"	"subst"	"4.87306E-5"	"01943"	"RP9_000004"	"g.33138997G>A"	""	""	""	"RP9(NM_203288.1):c.235C>T (p.H79Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.33099385G>A"	""	"VUS"	""
"0000307307"	"0"	"50"	"7"	"33138930"	"33138930"	"subst"	"0"	"01943"	"RP9_000003"	"g.33138930T>C"	""	""	""	"RP9(NM_203288.1):c.302A>G (p.K101R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.33099318T>C"	""	"VUS"	""
"0000476650"	"0"	"50"	"7"	"33134877"	"33134877"	"subst"	"0"	"02591"	"RP9_000006"	"g.33134877G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.33095265G>A"	""	"VUS"	""
"0000476651"	"0"	"50"	"7"	"33134892"	"33134892"	"subst"	"0"	"02591"	"RP9_000007"	"g.33134892C>T"	"2/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs558009860"	"0"	""	""	"g.33095280C>T"	""	"VUS"	""
"0000476652"	"0"	"50"	"7"	"33136892"	"33136892"	"subst"	"0"	"02591"	"RP9_000008"	"g.33136892C>G"	"2/1198 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.33097280C>G"	""	"VUS"	""
"0000476653"	"0"	"50"	"7"	"33138967"	"33138967"	"subst"	"2.03029E-5"	"02591"	"RP9_000009"	"g.33138967T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs764812236"	"0"	""	""	"g.33099355T>C"	""	"VUS"	""
"0000476654"	"0"	"50"	"7"	"33140144"	"33140144"	"subst"	"0"	"02591"	"RP9_000010"	"g.33140144T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.33100532T>C"	""	"VUS"	""
"0000476655"	"0"	"50"	"7"	"33148856"	"33148856"	"subst"	"0"	"02591"	"RP9_000011"	"g.33148856C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.33109244C>A"	""	"VUS"	""
"0000476656"	"0"	"50"	"7"	"33148968"	"33148968"	"subst"	"0"	"02591"	"RP9_000012"	"g.33148968C>A"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.33109356C>A"	""	"VUS"	""
"0000531849"	"0"	"10"	"7"	"33136109"	"33136109"	"subst"	"0.00141371"	"01943"	"RP9_000013"	"g.33136109C>T"	""	""	""	"RP9(NM_203288.1):c.463G>A (p.V155I), RP9(NM_203288.2):c.463G>A (p.V155I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33096497C>T"	""	"benign"	""
"0000531850"	"0"	"10"	"7"	"33136113"	"33136113"	"subst"	"0.000771799"	"02330"	"RP9_000014"	"g.33136113C>T"	""	""	""	"RP9(NM_203288.2):c.459G>A (p.K153=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33096501C>T"	""	"benign"	""
"0000531852"	"0"	"10"	"7"	"33140170"	"33140170"	"subst"	"0.000861249"	"02330"	"RP9_000016"	"g.33140170G>A"	""	""	""	"RP9(NM_203288.2):c.156C>T (p.Y52=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33100558G>A"	""	"benign"	""
"0000531853"	"0"	"10"	"7"	"33148874"	"33148874"	"subst"	"0"	"02330"	"RP9_000017"	"g.33148874G>A"	""	""	""	"RP9(NM_203288.2):c.111C>T (p.H37=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33109262G>A"	""	"benign"	""
"0000611048"	"0"	"10"	"7"	"33136109"	"33136109"	"subst"	"0.00141371"	"02330"	"RP9_000013"	"g.33136109C>T"	""	""	""	"RP9(NM_203288.1):c.463G>A (p.V155I), RP9(NM_203288.2):c.463G>A (p.V155I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33096497C>T"	""	"benign"	""
"0000655821"	"0"	"50"	"7"	"33136124"	"33136124"	"subst"	"0"	"02327"	"RP9_000018"	"g.33136124G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33096512G>A"	""	"VUS"	""
"0000655822"	"0"	"30"	"7"	"33148950"	"33148950"	"subst"	"0"	"01943"	"RP9_000019"	"g.33148950G>C"	""	""	""	"RP9(NM_203288.1):c.35C>G (p.A12G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.33109338G>C"	""	"likely benign"	""
"0000710263"	"0"	"50"	"7"	"33148941"	"33148941"	"subst"	"0"	"00006"	"RP9_000020"	"g.33148941G>A"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	"ACMG PM2, BS2, BP4"	"Germline"	""	""	"0"	""	""	"g.33109329G>A"	""	"VUS"	"ACMG"
"0000721433"	"0"	"30"	"7"	"33138995"	"33138995"	"subst"	"3.24863E-5"	"01943"	"RP9_000015"	"g.33138995G>A"	""	""	""	"RP9(NM_203288.1):c.237C>T (p.H79=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000729762"	"0"	"70"	"7"	"33148856"	"33148856"	"subst"	"0"	"00000"	"RP9_000011"	"g.33148856C>A"	""	"{PMID:Maeda 2018:29785639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.33109244C>A"	""	"likely pathogenic"	""
"0000736483"	"1"	"10"	"7"	"33134883"	"33134883"	"subst"	"0.205175"	"00008"	"RP9_000001"	"g.33134883T>C"	""	"{PMID:Sullivan 2006:16799052}"	""	"629A>G"	".73/.23 in white subjects"	"Germline"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000784469"	"0"	"50"	"7"	"33136983"	"33136983"	"subst"	"0.993713"	"00000"	"RP9_000002"	"g.33136983G>A"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs6462460"	"0"	""	""	"g.33097371G>A"	""	"VUS"	""
"0000788535"	"1"	"90"	"7"	"33136162"	"33136162"	"subst"	"0"	"00000"	"RP9_000021"	"g.33136162T>A"	""	"{PMID:Watson 2014:25133751}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.33096550T>A"	""	"pathogenic"	""
"0000803134"	"0"	"30"	"7"	"33148820"	"33148820"	"subst"	"0"	"02330"	"RP9_000022"	"g.33148820G>A"	""	""	""	"RP9(NM_203288.2):c.152+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803135"	"0"	"50"	"7"	"33148918"	"33148918"	"subst"	"0"	"01943"	"RP9_000023"	"g.33148918C>T"	""	""	""	"RP9(NM_203288.1):c.67G>A (p.E23K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000817313"	"0"	"70"	"7"	"33095388"	"33095389"	"del"	"0"	"00000"	"RP9_000024"	"g.33095388_33095389del"	""	"{PMID:Sun 2020:32100970}"	""	"RP9 c.511_512delGA, p.Glu171ArgfsX2, heterozygous"	""	"Unknown"	"?"	""	"0"	""	""	"g.33095388_33095389del"	""	"likely pathogenic"	"ACMG"
"0000818984"	"0"	"50"	"7"	"0"	"0"	""	"0"	"00000"	"RP9_000025"	"g.(?_33134409)_(33185977_33192312)"	""	"{PMID:Ellingsford 2018:29074561}"	""	"chr7:33134841-33185981"	"variant identified in 5 unrelated patients"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000825934"	"0"	"70"	"7"	"33136124"	"33136124"	"subst"	"0"	"00000"	"RP9_000018"	"g.33136124G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.448C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000827186"	"0"	"90"	"7"	"33136136"	"33136136"	"subst"	"1.21872E-5"	"00000"	"RP9_000026"	"g.33136136G>A"	""	"{PMID:Colombo-2020:33576794}"	""	"c.436C>T"	""	"Germline"	""	"rs1426378506"	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000851600"	"0"	"30"	"7"	"33148951"	"33148951"	"subst"	"0.00180183"	"02330"	"RP9_000027"	"g.33148951C>T"	""	""	""	"RP9(NM_203288.2):c.34G>A (p.A12T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000887864"	"0"	"30"	"7"	"33138983"	"33138983"	"subst"	"1.21819E-5"	"02330"	"RP9_000028"	"g.33138983A>G"	""	""	""	"RP9(NM_203288.2):c.249T>C (p.F83=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000902326"	"0"	"70"	"7"	"33136162"	"33136162"	"subst"	"0"	"00000"	"RP9_000021"	"g.33136162T>A"	""	"{PMID:Keen 2002:12032732}"	""	"RP9 c.410A>T, H137L"	"heterozygous; segregation is a strong suggestion of causality, but there is doubt - the original His137Leu variant may be a paralogous variant (concurrent sequence from a gene and a pseudogene) and no additional mutations have been reported to segregate with disease"	"Germline"	"yes"	""	"0"	""	""	"g.33096550T>A"	""	"likely pathogenic"	""
"0000912736"	"0"	"30"	"7"	"33148815"	"33148815"	"subst"	"0.000444996"	"02330"	"RP9_000029"	"g.33148815C>T"	""	""	""	"RP9(NM_203288.2):c.152+18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929343"	"0"	"50"	"7"	"33136968"	"33136968"	"subst"	"0"	"02327"	"RP9_000030"	"g.33136968C>T"	""	""	""	""	"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 RP9
## Count = 36
"{{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}}"
"0000060419"	"00018055"	"50"	"629"	"0"	"629"	"0"	"c.629A>G"	"r.(?)"	"p.(Lys210Arg)"	"6"
"0000294991"	"00018055"	"10"	"216"	"0"	"216"	"0"	"c.216A>G"	"r.(?)"	"p.(Pro72=)"	""
"0000297734"	"00018055"	"10"	"314"	"-9"	"314"	"-9"	"c.314-9C>T"	"r.(=)"	"p.(=)"	""
"0000307306"	"00018055"	"50"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(His79Tyr)"	""
"0000307307"	"00018055"	"50"	"302"	"0"	"302"	"0"	"c.302A>G"	"r.(?)"	"p.(Lys101Arg)"	""
"0000476650"	"00018055"	"50"	"635"	"0"	"635"	"0"	"c.635C>T"	"r.(?)"	"p.(Ser212Phe)"	""
"0000476651"	"00018055"	"50"	"620"	"0"	"620"	"0"	"c.620G>A"	"r.(?)"	"p.(Arg207Gln)"	""
"0000476652"	"00018055"	"50"	"396"	"0"	"396"	"0"	"c.396G>C"	"r.(?)"	"p.(Gln132His)"	""
"0000476653"	"00018055"	"50"	"265"	"0"	"265"	"0"	"c.265A>G"	"r.(?)"	"p.(Thr89Ala)"	""
"0000476654"	"00018055"	"50"	"182"	"0"	"182"	"0"	"c.182A>G"	"r.(?)"	"p.(Lys61Arg)"	""
"0000476655"	"00018055"	"50"	"129"	"0"	"129"	"0"	"c.129G>T"	"r.(?)"	"p.(Gln43His)"	""
"0000476656"	"00018055"	"50"	"17"	"0"	"17"	"0"	"c.17G>T"	"r.(?)"	"p.(Gly6Val)"	""
"0000531849"	"00018055"	"10"	"463"	"0"	"463"	"0"	"c.463G>A"	"r.(?)"	"p.(Val155Ile)"	""
"0000531850"	"00018055"	"10"	"459"	"0"	"459"	"0"	"c.459G>A"	"r.(?)"	"p.(Lys153=)"	""
"0000531852"	"00018055"	"10"	"156"	"0"	"156"	"0"	"c.156C>T"	"r.(?)"	"p.(Tyr52=)"	""
"0000531853"	"00018055"	"10"	"111"	"0"	"111"	"0"	"c.111C>T"	"r.(?)"	"p.(His37=)"	""
"0000611048"	"00018055"	"10"	"463"	"0"	"463"	"0"	"c.463G>A"	"r.(?)"	"p.(Val155Ile)"	""
"0000655821"	"00018055"	"50"	"448"	"0"	"448"	"0"	"c.448C>T"	"r.(?)"	"p.(Arg150Ter)"	""
"0000655822"	"00018055"	"30"	"35"	"0"	"35"	"0"	"c.35C>G"	"r.(?)"	"p.(Ala12Gly)"	""
"0000710263"	"00018055"	"50"	"44"	"0"	"44"	"0"	"c.44C>T"	"r.(?)"	"p.(Ala15Val)"	""
"0000721433"	"00018055"	"30"	"237"	"0"	"237"	"0"	"c.237C>T"	"r.(?)"	"p.(His79=)"	""
"0000729762"	"00018055"	"70"	"129"	"0"	"129"	"0"	"c.129G>T"	"r.(?)"	"p.(Gln43His)"	""
"0000736483"	"00018055"	"10"	"629"	"0"	"629"	"0"	"c.629A>G"	"r.(?)"	"p.(Lys210Arg)"	"6"
"0000784469"	"00018055"	"50"	"314"	"-9"	"314"	"-9"	"c.314-9C>T"	"r.(=)"	"p.(=)"	""
"0000788535"	"00018055"	"90"	"410"	"0"	"410"	"0"	"c.410A>T"	"r.(?)"	"p.(His137Leu)"	""
"0000803134"	"00018055"	"30"	"152"	"13"	"152"	"13"	"c.152+13C>T"	"r.(=)"	"p.(=)"	""
"0000803135"	"00018055"	"50"	"67"	"0"	"67"	"0"	"c.67G>A"	"r.(?)"	"p.(Glu23Lys)"	""
"0000817313"	"00018055"	"70"	"511"	"0"	"512"	"0"	"c.511_512delGA"	"r.(?)"	"p.(Glu171Argfs*2)"	"6"
"0000818984"	"00018055"	"50"	"0"	"0"	"0"	"0"	"c.-18_*437{2}"	"r.?"	"p.?"	"_1_9_"
"0000825934"	"00018055"	"70"	"448"	"0"	"448"	"0"	"c.448C>T"	"r.(?)"	"p.(Arg150*)"	"5"
"0000827186"	"00018055"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146*)"	"5"
"0000851600"	"00018055"	"30"	"34"	"0"	"34"	"0"	"c.34G>A"	"r.(?)"	"p.(Ala12Thr)"	""
"0000887864"	"00018055"	"30"	"249"	"0"	"249"	"0"	"c.249T>C"	"r.(?)"	"p.(Phe83=)"	""
"0000902326"	"00018055"	"70"	"410"	"0"	"410"	"0"	"c.410A>T"	"r.(?)"	"p.(His137Leu)"	""
"0000912736"	"00018055"	"30"	"152"	"18"	"152"	"18"	"c.152+18G>A"	"r.(=)"	"p.(=)"	""
"0000929343"	"00018055"	"50"	"320"	"0"	"320"	"0"	"c.320G>A"	"r.(?)"	"p.(Arg107His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 18
"{{screeningid}}"	"{{variantid}}"
"0000033198"	"0000060419"
"0000233942"	"0000476650"
"0000233943"	"0000476651"
"0000233944"	"0000476652"
"0000233945"	"0000476653"
"0000233946"	"0000476654"
"0000233947"	"0000476655"
"0000233948"	"0000476656"
"0000326671"	"0000710263"
"0000332507"	"0000729762"
"0000336945"	"0000736483"
"0000373882"	"0000784469"
"0000376642"	"0000788535"
"0000388615"	"0000817313"
"0000389749"	"0000818984"
"0000394869"	"0000825934"
"0000395784"	"0000827186"
"0000425520"	"0000902326"