### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = AGBL5)
# 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}}"
"AGBL5"	"ATP/GTP binding protein-like 5"	"2"	"p23.3"	"unknown"	"NG_052914.1"	"UD_132378869452"	""	"https://www.LOVD.nl/AGBL5"	""	"1"	"26147"	"60509"	"615900"	"1"	"1"	"1"	"1"	"Establishment 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/AGBL5_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-01-26 21:19:01"	"00000"	"2023-01-11 15:44:22"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00002225"	"AGBL5"	"transcript variant 1"	"001"	"NM_021831.5"	""	"NP_068603.4"	""	""	""	"-217"	"3020"	"2661"	"27274491"	"27293490"	""	"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}}"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05687"	"RP75"	"retinitis pigmentosa, type 75 (RP75)"	"AR"	"617023"	""	""	""	"00006"	"2020-01-26 21:19:51"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"AGBL5"	"04214"
"AGBL5"	"05687"


## Individuals ## Do not remove or alter this header ##
## Count = 45
"{{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}}"
"00232190"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232191"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232192"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232193"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232194"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232195"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232196"	""	""	""	"6"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232197"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232198"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232199"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232200"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232201"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232202"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232203"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232204"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232205"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232206"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232207"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232208"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232209"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232210"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232211"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232212"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232213"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232214"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232215"	""	""	""	"9"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232216"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232217"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232218"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00276087"	""	""	""	"3"	""	"00006"	"{PMID:Kastner 2015:26720455}"	"2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents"	""	"yes"	"Turkey"	""	"0"	""	""	""	"FamE"
"00308937"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00363757"	""	""	""	"3"	""	"00006"	"{PMID:Patel 2016:26355662}"	"2-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives"	"M"	""	""	""	"0"	""	""	""	"12DG0507"
"00383407"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383872"	""	""	""	"1"	""	"00000"	"{PMID:Abu Diab 2019:30925032}"	"Mixed Arabic Muslim and Christian descent"	"F"	"yes"	"Israel"	""	"0"	""	""	""	"MOL1514 III:4"
"00387387"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2020:32100970}"	""	"F"	""	"China"	""	"0"	""	""	""	"7"
"00390160"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G007663"
"00391362"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"18"
"00392261"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2021:33494148}"	""	"F"	"yes"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"7"
"00408725"	""	""	""	"1"	""	"00000"	"{PMID:Branham 2016:27764769}"	""	"F"	""	""	""	"0"	""	""	""	"II:3"
"00408726"	""	""	""	"1"	""	"00000"	"{PMID:Branham 2016:27764769}"	""	"M"	""	""	""	"0"	""	""	""	"II:2"
"00408727"	""	""	""	"1"	""	"00000"	"{PMID:Astuti 2016:27842159}"	"Family 1, individual IV:3"	"M"	""	""	""	"0"	""	""	""	"F1-IV:3"
"00408728"	""	""	""	"1"	""	"00000"	"{PMID:Astuti 2016:27842159}"	"Family 2, individual II:1"	"F"	""	""	""	"0"	""	""	""	"F2-II:1"
"00408729"	""	""	""	"1"	""	"00000"	"{PMID:Astuti 2016:27842159}"	"Family 2, individual II:3"	"F"	""	""	""	"0"	""	""	""	"F2-II:3"
"00408730"	""	""	""	"1"	""	"00000"	"{PMID:Astuti 2016:27842159}"	"Family 3, individual II:1"	"F"	""	""	""	"0"	""	""	""	"F3-II:1"
"00426944"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 48, individual 57"	"F"	""	""	""	"0"	""	""	""	"48_57"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 45
"{{individualid}}"	"{{diseaseid}}"
"00232190"	"04214"
"00232191"	"04214"
"00232192"	"04214"
"00232193"	"04214"
"00232194"	"04214"
"00232195"	"04214"
"00232196"	"04214"
"00232197"	"04214"
"00232198"	"04214"
"00232199"	"04214"
"00232200"	"04214"
"00232201"	"04214"
"00232202"	"04214"
"00232203"	"04214"
"00232204"	"04214"
"00232205"	"04214"
"00232206"	"04214"
"00232207"	"04214"
"00232208"	"04214"
"00232209"	"04214"
"00232210"	"04214"
"00232211"	"04214"
"00232212"	"04214"
"00232213"	"04214"
"00232214"	"04214"
"00232215"	"04214"
"00232216"	"04214"
"00232217"	"04214"
"00232218"	"04214"
"00276087"	"04214"
"00308937"	"04214"
"00363757"	"04214"
"00383407"	"04214"
"00383872"	"04214"
"00387387"	"04214"
"00390160"	"04214"
"00391362"	"04214"
"00392261"	"04214"
"00408725"	"04214"
"00408726"	"04214"
"00408727"	"04214"
"00408728"	"04214"
"00408729"	"04214"
"00408730"	"04214"
"00426944"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04214, 05687
## Count = 16
"{{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}}"
"0000210682"	"04214"	"00276087"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	"RP75"	"retinitis pigmentosa"
"0000234257"	"04214"	"00308937"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000259107"	"04214"	"00363757"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"retinitis pigmentosa"
"0000277192"	"04214"	"00383407"	"00000"	"Familial, autosomal recessive"	""	""	"10y"	""	""	""	""	""	""	""	"Rod-cone dystrophy"
"0000277657"	"04214"	"00383872"	"00000"	"Familial, autosomal recessive"	""	"RP and liver dysfunction"	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000280950"	"04214"	"00387387"	"00000"	"Familial, autosomal recessive"	"37y"	"no lens opacity, no choroidal atrophy, negative family history, BCVA OD/OS: 0.6/0.8, retinal crystal deposit"	"12y"	""	""	""	""	""	""	"Retinitis pigmentosa"	"Retinitis pigmentosa"
"0000283698"	"04214"	"00390160"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"
"0000284802"	"04214"	"00391362"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa 75 (617023)"	"Retinitis pigmentosa 75 (617023)"
"0000285539"	"04214"	"00392261"	"00000"	"Familial, autosomal recessive"	"31y"	"Posterior subcapsular cataract,retinal dystrophy, macular oedema"	""	"23y9m"	""	""	""	""	""	"Retinitis pigmentosa 75"	""
"0000300844"	"04214"	"00408725"	"00000"	"Familial, autosomal recessive"	"11y"	"11y: several-year history of nyctalopia; best corrected visual acuity: 20/20 both eyes; visual field: unreliable; electroretinography: barely recordable responses both eyes; fundus: early optic nerve pallor and surface gliosis, vascular attenuation, depressed foveal reflex, fine retinal pigment epithelium granularityl peripheral retina: a few areas of bone spicule-like pigmentation and a coarse retinal pigment epithelium granularity. 17y: best corrected visual acuity: 20/30 both eyes, visual fields:constricted. 24y: best corrected visual acuity right, left eye: 20/50, 20/30; greatly constricted visual field; fundus: heavy bone spicule pigmentation in the equatorial region both eyes; medical history: petit mal seizures beginning at the age of 8 yr, controlled with medication"	""	""	"night blindness"	""	""	""	""	"retinitis pigmentosa"	""
"0000300845"	"04214"	"00408726"	"00000"	"Familial, autosomal recessive"	"15y"	"15y: history of impaired night vision; best corrected visual acuity right, left eye: 20/15, 20/20 left eye; visual field: full fields with the v4e isopter, but constriction to 30 degrees centrally with the i4e isopter; . electroretinography: scotopic barely recordable, photopic responses 50% reduction of amplitude and normal waveform; fundus: slight optic disc pallor and gliosis; attenuated vessels; foveal reflex intact in both eyes, retinal pigment epithelium intact in both maculae; peripheral retina: fine bone spicule pigmentation and fine granularity to the retinal pigment epithelium"	""	""	"night blindness"	""	""	""	""	"retinitis pigmentosa"	""
"0000300846"	"04214"	"00408727"	"00000"	"Familial, autosomal recessive"	"43y"	"best corrected visual acuity right, left eye: light perception, no light perception; ophthalmoscopy: mild optic disk pallor, attenuated vessels, macular and (mid-) peripheral retinal pigment epithelium atrophy with heavy intraretinal bone spicule pigmentations and deep nummular pigmentations; full field electroretinography: not available; optical coherence tomography: cystoid maculopathy progressing into complete loss of outer retinal layers and thinning inner retinal layers at fovea; fundus autofluorescence: not performed; other symptoms: pseudophakia, cataract extraction (age 29), band keratopathy, cystoid macular edema (responsive to subcutaneous octreotide), Morbus Behcet"	"<20y"	"16y"	"central vision loss, nyctalopia (2nd decade)"	""	""	""	""	"retinitis pigmentosa"	""
"0000300847"	"04214"	"00408728"	"00000"	"Familial, autosomal recessive"	"24y"	"best corrected visual acuity right, left eye: 6/18 (0.48), 6/12 (0.3); ophthalmoscopy: optic disc pallor, attenuated vessels, macular and midperipheral retinal pigment epithelium mottling and occasional hyperpigmented spots; full field electroretinography: 8y, findings of marked rod system dysfunction with cone system dysfunction right eye>left eye; marked macular involvement right eye; optical coherence tomography: cysts in inner nuclear layer right eye<left eye, centrally preserved inner segment ellipsoid band and outer nuclear layers right eye<left eye; fundus autofluorescence: parafoveal hyper-autofluorescent ring larger on left eye, right eye additional ring of hypoautofluorescence surrounding this in macula, midperipheral spots of hypo-autofluorescence; other symptoms: posterior subcapsular cataract, cystoid macular ed ma (responsive to topica carbonic anhydrase inhibitor), right amblyopia, right secondary exotropia"	"9y"	"9y"	"nyctalopia (age 9)"	""	""	""	""	"retinitis pigmentosa"	""
"0000300848"	"04214"	"00408729"	"00000"	"Familial, autosomal recessive"	"27y"	"best corrected visual acuity right, left eye: 6/18 (0.48), 6/18 (0.48); ophthalmoscopy: optic disc pallor, attenuated vessels, macular and midperipheral retinal pigment epithelium mottling, minimal pigment spots; full field electroretinography: 20y, severe generalized loss of retinal function; optical coherence tomography: cysts inner nuclear layer, small foveal region of preserved inner segment ellipsoid band; fundus autofluorescence: foveal hyper-autofluorescence surrounded by parafoveal hypo-autofluorescent ring, midperipheral spots of hypo-autofluorescence; other symptoms: posterior subcapsular cataract, cystoid macular ed ma (responsive to carbonic anhydrase inhibitor), learning difficulties"	"<20y"	"20y"	"nyctalopia (2nd decade), central vision loss, visual field loss"	""	""	""	""	"retinitis pigmentosa"	""
"0000300849"	"04214"	"00408730"	"00000"	"Familial, autosomal recessive"	"63y"	"best corrected visual acuity right, left eye: 6/12 (0.3), 6/12 (0.3); ophthalmoscopy: optic disc pallor, attenuated vessels, macular retinal pigment epithelium mottling, heavy midperipheral bone spicule pigmentation; full field electroretinography: 39y, findings consistent with RP, report not available ; optical coherence tomography: cysts in inner nuclear layer, centrally preserved outer nuclear layer and inner segment ellipsoid band (disrupted), epiretinal membrane ; fundus autofluorescence: parafoveal spots of hypo-autofluorescence, extensive speckled midperipheral loss of autofluorescence; other symptoms: cataract, cystoid macular edema (responsive to carbonic anhydrase inhibitor)"	"<40y"	"39y"	"nyctalopia, peripheral field loss, (start 4th decade)"	""	""	""	""	"retinitis pigmentosa"	""
"0000318082"	"04214"	"00426944"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	"Usher syndrome"	"Usher syndrome"


## Screenings ## Do not remove or alter this header ##
## Count = 45
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000233289"	"00232190"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233290"	"00232191"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233291"	"00232192"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233292"	"00232193"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233293"	"00232194"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233294"	"00232195"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233295"	"00232196"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233296"	"00232197"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233297"	"00232198"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233298"	"00232199"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233299"	"00232200"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233300"	"00232201"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233301"	"00232202"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233302"	"00232203"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233303"	"00232204"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233304"	"00232205"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233305"	"00232206"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233306"	"00232207"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233307"	"00232208"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233308"	"00232209"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233309"	"00232210"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233310"	"00232211"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233311"	"00232212"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233312"	"00232213"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233313"	"00232214"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233314"	"00232215"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233315"	"00232216"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233316"	"00232217"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233317"	"00232218"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000277231"	"00276087"	"1"	"00006"	"00006"	"2020-01-26 21:26:27"	""	""	"SEQ"	"DNA"	""	""
"0000310082"	"00308937"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000364985"	"00363757"	"1"	"00006"	"00006"	"2021-04-29 16:50:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000384632"	"00383407"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000385097"	"00383872"	"1"	"00000"	"03840"	"2021-09-29 13:08:31"	""	""	"SEQ-NG;arraySNP;SEQ"	"DNA"	"blood"	"whole exome sequencing, SNP array homozygosity mapping"
"0000388613"	"00387387"	"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"
"0000391401"	"00390160"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000392604"	"00391362"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000393503"	"00392261"	"1"	"00000"	"03840"	"2021-11-22 09:44:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next-generation sequencing"
"0000409989"	"00408725"	"1"	"00000"	"03840"	"2022-04-26 12:48:47"	""	""	"?"	"DNA"	"blood"	"whole genome sequencing"
"0000409990"	"00408726"	"1"	"00000"	"03840"	"2022-04-26 12:48:47"	""	""	"?"	"DNA"	"blood"	"whole genome sequencing"
"0000409991"	"00408727"	"1"	"00000"	"03840"	"2022-04-26 13:30:15"	"03840"	"2022-04-26 14:00:34"	"SEQ-NG-S"	"DNA"	"blood"	"Whole-exome sequencing SOLiD4"
"0000409992"	"00408728"	"1"	"00000"	"03840"	"2022-04-26 13:30:15"	"03840"	"2022-04-26 13:57:39"	"SEQ-NG-I"	"DNA"	"blood"	"Whole-exome sequencing Illumina"
"0000409993"	"00408729"	"1"	"00000"	"03840"	"2022-04-26 13:30:15"	"03840"	"2022-04-26 13:59:38"	"SEQ-NG-I"	"DNA"	"blood"	"Whole-exome sequencing Illumina"
"0000409994"	"00408730"	"1"	"00000"	"03840"	"2022-04-26 13:30:15"	"03840"	"2022-04-26 13:59:38"	"SEQ-NG-I"	"DNA"	"blood"	"Whole-exome sequencing Illumina"
"0000428264"	"00426944"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 43
"{{screeningid}}"	"{{geneid}}"
"0000233289"	"AGBL5"
"0000233290"	"AGBL5"
"0000233291"	"AGBL5"
"0000233292"	"AGBL5"
"0000233293"	"AGBL5"
"0000233294"	"AGBL5"
"0000233295"	"AGBL5"
"0000233296"	"AGBL5"
"0000233297"	"AGBL5"
"0000233298"	"AGBL5"
"0000233299"	"AGBL5"
"0000233300"	"AGBL5"
"0000233301"	"AGBL5"
"0000233302"	"AGBL5"
"0000233303"	"AGBL5"
"0000233304"	"AGBL5"
"0000233305"	"AGBL5"
"0000233306"	"AGBL5"
"0000233307"	"AGBL5"
"0000233308"	"AGBL5"
"0000233309"	"AGBL5"
"0000233310"	"AGBL5"
"0000233311"	"AGBL5"
"0000233312"	"AGBL5"
"0000233313"	"AGBL5"
"0000233314"	"AGBL5"
"0000233315"	"AGBL5"
"0000233316"	"AGBL5"
"0000233317"	"AGBL5"
"0000277231"	"AGBL5"
"0000310082"	"AGBL5"
"0000384632"	"AGBL5"
"0000385097"	"AGBL5"
"0000391401"	"AGBL5"
"0000392604"	"AGBL5"
"0000393503"	"AGBL5"
"0000409989"	"AGBL5"
"0000409990"	"AGBL5"
"0000409991"	"AGBL5"
"0000409992"	"AGBL5"
"0000409993"	"AGBL5"
"0000409994"	"AGBL5"
"0000428264"	"MYO7A"


## 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 = 72
"{{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}}"
"0000348445"	"0"	"50"	"2"	"27278906"	"27278906"	"subst"	"0.000101515"	"02327"	"AGBL5_000002"	"g.27278906C>G"	""	""	""	"AGBL5(NM_021831.5):c.1265C>G (p.P422R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.27056038C>G"	""	"VUS"	""
"0000351085"	"0"	"70"	"2"	"27276762"	"27276762"	"subst"	"0"	"02327"	"AGBL5_000001"	"g.27276762A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.27053894A>G"	""	"likely pathogenic"	""
"0000475997"	"0"	"50"	"2"	"27275824"	"27275824"	"subst"	"0"	"02591"	"AGBL5_000003"	"g.27275824A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27052956A>G"	""	"VUS"	""
"0000475998"	"0"	"50"	"2"	"27275919"	"27275919"	"subst"	"0"	"02591"	"AGBL5_000004"	"g.27275919T>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27053051T>A"	""	"VUS"	""
"0000475999"	"0"	"50"	"2"	"27276020"	"27276020"	"subst"	"0.00000424063"	"02591"	"AGBL5_000005"	"g.27276020C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27053152C>T"	""	"VUS"	""
"0000476000"	"0"	"50"	"2"	"27276045"	"27276045"	"subst"	"0"	"02591"	"AGBL5_000006"	"g.27276045T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27053177T>C"	""	"VUS"	""
"0000476001"	"0"	"50"	"2"	"27276806"	"27276806"	"subst"	"0.000024374"	"02591"	"AGBL5_000007"	"g.27276806G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs3739090"	"0"	""	""	"g.27053938G>A"	""	"VUS"	""
"0000476002"	"0"	"50"	"2"	"27276896"	"27276896"	"subst"	"0"	"02591"	"AGBL5_000008"	"g.27276896C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27054028C>T"	""	"VUS"	""
"0000476003"	"0"	"50"	"2"	"27277596"	"27277596"	"subst"	"0.0000121844"	"02591"	"AGBL5_000009"	"g.27277596G>A"	"6/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs541509761"	"0"	""	""	"g.27054728G>A"	""	"VUS"	""
"0000476004"	"0"	"50"	"2"	"27277624"	"27277624"	"subst"	"0"	"02591"	"AGBL5_000010"	"g.27277624G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27054756G>C"	""	"VUS"	""
"0000476005"	"0"	"50"	"2"	"27278088"	"27278088"	"subst"	"0"	"02591"	"AGBL5_000011"	"g.27278088T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27055220T>C"	""	"VUS"	""
"0000476006"	"0"	"50"	"2"	"27278602"	"27278602"	"subst"	"0.000105615"	"02591"	"AGBL5_000012"	"g.27278602G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs755544280"	"0"	""	""	"g.27055734G>A"	""	"VUS"	""
"0000476007"	"0"	"50"	"2"	"27278610"	"27278610"	"subst"	"0"	"02591"	"AGBL5_000013"	"g.27278610C>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27055742C>A"	""	"VUS"	""
"0000476008"	"0"	"50"	"2"	"27278663"	"27278663"	"subst"	"0"	"02591"	"AGBL5_000014"	"g.27278663G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27055795G>A"	""	"VUS"	""
"0000476009"	"0"	"50"	"2"	"27278688"	"27278688"	"subst"	"0"	"02591"	"AGBL5_000015"	"g.27278688G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27055820G>C"	""	"VUS"	""
"0000476010"	"0"	"50"	"2"	"27278870"	"27278870"	"subst"	"0.000109636"	"02591"	"AGBL5_000016"	"g.27278870C>T"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs772072440"	"0"	""	""	"g.27056002C>T"	""	"VUS"	""
"0000476011"	"0"	"50"	"2"	"27278906"	"27278906"	"subst"	"0.000101515"	"02591"	"AGBL5_000002"	"g.27278906C>G"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs140111286"	"0"	""	""	"g.27056038C>G"	""	"VUS"	""
"0000476012"	"0"	"50"	"2"	"27279585"	"27279585"	"subst"	"0.0000934367"	"02591"	"AGBL5_000017"	"g.27279585G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs771255981"	"0"	""	""	"g.27056717G>A"	""	"VUS"	""
"0000476013"	"0"	"50"	"2"	"27279636"	"27279636"	"subst"	"0"	"02591"	"AGBL5_000018"	"g.27279636A>G"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27056768A>G"	""	"VUS"	""
"0000476014"	"0"	"50"	"2"	"27280245"	"27280245"	"subst"	"0.0000325166"	"02591"	"AGBL5_000019"	"g.27280245G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs746607000"	"0"	""	""	"g.27057377G>A"	""	"VUS"	""
"0000476015"	"0"	"50"	"2"	"27280253"	"27280253"	"subst"	"0"	"02591"	"AGBL5_000020"	"g.27280253C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27057385C>T"	""	"VUS"	""
"0000476016"	"0"	"50"	"2"	"27280263"	"27280263"	"subst"	"0.0000203369"	"02591"	"AGBL5_000021"	"g.27280263C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs747328031"	"0"	""	""	"g.27057395C>T"	""	"VUS"	""
"0000476017"	"0"	"50"	"2"	"27282143"	"27282145"	"del"	"0"	"02591"	"AGBL5_000022"	"g.27282143_27282145del"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs762963806"	"0"	""	""	"g.27059275_27059277del"	""	"VUS"	""
"0000476018"	"0"	"50"	"2"	"27290359"	"27290359"	"subst"	"0"	"02591"	"AGBL5_000023"	"g.27290359dup"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27067491dup"	""	"VUS"	""
"0000476019"	"0"	"50"	"2"	"27290410"	"27290410"	"subst"	"0.0000284264"	"02591"	"AGBL5_000024"	"g.27290410G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs545834161"	"0"	""	""	"g.27067542G>A"	""	"VUS"	""
"0000476020"	"0"	"50"	"2"	"27291496"	"27291496"	"subst"	"0"	"02591"	"AGBL5_000025"	"g.27291496C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27068628C>T"	""	"VUS"	""
"0000476021"	"0"	"50"	"2"	"27292459"	"27292459"	"subst"	"0.00000407116"	"02591"	"AGBL5_000026"	"g.27292459C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27069591C>T"	""	"VUS"	""
"0000476022"	"0"	"50"	"2"	"27292523"	"27292523"	"subst"	"0.000578444"	"02591"	"AGBL5_000027"	"g.27292523G>A"	"9/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs183748586"	"0"	""	""	"g.27069655G>A"	""	"VUS"	""
"0000476023"	"0"	"50"	"2"	"27293037"	"27293037"	"subst"	"0"	"02591"	"AGBL5_000028"	"g.27293037C>T"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.27070169C>T"	""	"VUS"	""
"0000476024"	"0"	"50"	"2"	"27293097"	"27293097"	"subst"	"0.00000406101"	"02591"	"AGBL5_000029"	"g.27293097A>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs759707734"	"0"	""	""	"g.27070229A>T"	""	"VUS"	""
"0000476025"	"0"	"50"	"2"	"27293124"	"27293124"	"subst"	"0.00000812255"	"02591"	"AGBL5_000030"	"g.27293124G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs754208479"	"0"	""	""	"g.27070256G>A"	""	"VUS"	""
"0000515515"	"0"	"50"	"2"	"27275904"	"27275904"	"subst"	"0.000370036"	"01943"	"AGBL5_000031"	"g.27275904A>C"	""	""	""	"AGBL5(NM_021831.5):c.78A>C (p.E26D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27053036A>C"	""	"VUS"	""
"0000515516"	"0"	"50"	"2"	"27276293"	"27276293"	"subst"	"0.000117863"	"01943"	"AGBL5_000032"	"g.27276293G>A"	""	""	""	"AGBL5(NM_021831.5):c.239G>A (p.R80Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27053425G>A"	""	"VUS"	""
"0000515517"	"0"	"30"	"2"	"27276775"	"27276775"	"subst"	"0"	"01943"	"AGBL5_000033"	"g.27276775G>A"	""	""	""	"AGBL5(NM_021831.5):c.399G>A (p.T133=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27053907G>A"	""	"likely benign"	""
"0000515518"	"0"	"30"	"2"	"27282164"	"27282164"	"subst"	"0.0000203052"	"01943"	"AGBL5_000034"	"g.27282164A>G"	""	""	""	"AGBL5(NM_021831.5):c.1981A>G (p.M661V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27059296A>G"	""	"likely benign"	""
"0000515519"	"0"	"30"	"2"	"27293026"	"27293026"	"subst"	"0.00170561"	"01943"	"AGBL5_000035"	"g.27293026A>G"	""	""	""	"AGBL5(NM_021831.5):c.2556A>G (p.L852=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27070158A>G"	""	"likely benign"	""
"0000607880"	"0"	"30"	"2"	"27282266"	"27282266"	"subst"	"0.00630003"	"01943"	"AGBL5_000036"	"g.27282266G>A"	""	""	""	"AGBL5(NM_021831.5):c.2083G>A (p.V695I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27059398G>A"	""	"likely benign"	""
"0000607881"	"0"	"30"	"2"	"27290355"	"27290355"	"del"	"0"	"01943"	"AGBL5_000037"	"g.27290355del"	""	""	""	"AGBL5(NM_021831.5):c.2090-7delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27067487del"	""	"likely benign"	""
"0000631998"	"3"	"90"	"2"	"27278096"	"27278096"	"subst"	"0.00000406118"	"00006"	"AGBL5_000038"	"g.27278096G>A"	""	"{PMID:Kastner 2015:26720455}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.27055228G>A"	""	"pathogenic (recessive)"	""
"0000654613"	"0"	"30"	"2"	"27275874"	"27275874"	"subst"	"0.0000447675"	"01943"	"AGBL5_000039"	"g.27275874A>G"	""	""	""	"AGBL5(NM_021831.5):c.48A>G (p.S16=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.27053006A>G"	""	"likely benign"	""
"0000676605"	"0"	"30"	"2"	"27281318"	"27281318"	"subst"	"0.0000406065"	"01943"	"AGBL5_000040"	"g.27281318G>A"	""	""	""	"AGBL5(NM_021831.5):c.1722G>A (p.P574=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000684993"	"0"	"90"	"2"	"27281383"	"27281384"	"del"	"0.00000406055"	"00004"	"AGBL5_000041"	"g.27281383_27281384del"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000718717"	"0"	"30"	"2"	"27275889"	"27275889"	"subst"	"0.0000610158"	"01943"	"AGBL5_000042"	"g.27275889C>T"	""	""	""	"AGBL5(NM_021831.5):c.63C>T (p.H21=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000718718"	"0"	"30"	"2"	"27281274"	"27281274"	"subst"	"0.0000527975"	"01943"	"AGBL5_000043"	"g.27281274C>A"	""	""	""	"AGBL5(NM_021831.5):c.1678C>A (p.R560=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000765935"	"3"	"70"	"2"	"27278039"	"27278039"	"subst"	"0"	"00006"	"AGBL5_000044"	"g.27278039C>T"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000800553"	"0"	"50"	"2"	"27278906"	"27278906"	"subst"	"0.000101515"	"01943"	"AGBL5_000002"	"g.27278906C>G"	""	""	""	"AGBL5(NM_021831.5):c.1265C>G (p.P422R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811390"	"3"	"70"	"2"	"27278896"	"27278896"	"dup"	"0"	"00000"	"AGBL5_000045"	"g.27278896dup"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.1255dup  (p.Thr419Asnfs*32), Allele 2 c.1255dup  (p.Thr419Asnfs*32)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.27056028dup"	""	"likely pathogenic"	""
"0000811974"	"3"	"70"	"2"	"27281383"	"27281384"	"del"	"0.00000406055"	"00000"	"AGBL5_000041"	"g.27281383_27281384del"	""	"{PMID:Abu Diab 2019:30925032}"	""	"c.1787_1788del, p.(His596Argfs*47)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27058515_27058516del"	""	"likely pathogenic"	""
"0000817311"	"0"	"70"	"2"	"27056663"	"27056663"	"subst"	"0"	"00000"	"AGBL5_000046"	"g.27056663C>G"	""	"{PMID:Sun 2020:32100970}"	""	"AGBL5 c.1406C > G, p.Ser469Ter, heterozygous"	""	"Unknown"	"?"	""	"0"	""	""	"g.27056663C>G"	""	"likely pathogenic"	"ACMG"
"0000817330"	"0"	"50"	"2"	"27056755"	"27056755"	"subst"	"0"	"00000"	"AGBL5_000047"	"g.27056755C>T"	""	"{PMID:Sun 2020:32100970}"	""	"AGBL5 c.1498C > T, p.Arg500Cys, heterozygous"	""	"Unknown"	"?"	""	"0"	""	""	"g.27056755C>T"	""	"VUS"	"ACMG"
"0000821150"	"0"	"70"	"2"	"27279629"	"27279629"	"dup"	"0"	"00000"	"AGBL5_000049"	"g.27279629dup"	""	"{PMID:Turro 2020:32581362}"	""	"AGBL5 c.1504dupG, p.Ala502GlyfsTer15"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.27056761dup"	""	"likely pathogenic"	""
"0000821521"	"0"	"70"	"2"	"27277965"	"27277965"	"subst"	"0"	"00000"	"AGBL5_000048"	"g.27277965T>G"	""	"{PMID:Turro 2020:32581362}"	""	"AGBL5 c.752T>G, p.Val251Gly"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.27055097T>G"	""	"likely pathogenic"	""
"0000822947"	"3"	"70"	"2"	"27276367"	"27276373"	"del"	"0"	"00000"	"AGBL5_000050"	"g.27276367_27276373del"	""	"{PMID:Méjécase 2020:32783370}"	""	"AGBL5 c.313_319del  p.(Gly105Profs*24)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.27053499_27053505del"	""	"likely pathogenic"	""
"0000824265"	"0"	"90"	"2"	"27276377"	"27276377"	"subst"	"0"	"00000"	"AGBL5_000051"	"g.27276377C>G"	""	"{PMID:Bell 2021:33494148}"	""	"AGBL5 c.323C>G, p.Pro108Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27053509C>G"	""	"pathogenic"	""
"0000847219"	"11"	"70"	"2"	"27278054"	"27278054"	"subst"	"0.0000081213"	"00000"	"AGBL5_000052"	"g.27278054C>T"	""	"{PMID:Branham 2016:27764769}"	""	"AGBL5 c.841C>T (p.Arg281Cys: rs780394281)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27055186C>T"	""	"likely pathogenic"	""
"0000847220"	"11"	"70"	"2"	"27278054"	"27278054"	"subst"	"0.0000081213"	"00000"	"AGBL5_000052"	"g.27278054C>T"	""	"{PMID:Branham 2016:27764769}"	""	"AGBL5 c.841C>T (p.Arg281Cys: rs780394281)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27055186C>T"	""	"likely pathogenic"	""
"0000847221"	"20"	"70"	"2"	"27279584"	"27279584"	"subst"	"0.0000203131"	"00000"	"AGBL5_000053"	"g.27279584C>T"	""	"{PMID:Branham 2016:27764769}"	""	"AGBL5 c.1459C>T (p.Arg487*; rs749698218)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27056716C>T"	""	"likely pathogenic"	""
"0000847222"	"20"	"70"	"2"	"27279584"	"27279584"	"subst"	"0.0000203131"	"00000"	"AGBL5_000053"	"g.27279584C>T"	""	"{PMID:Branham 2016:27764769}"	""	"AGBL5 c.1459C>T (p.Arg487*; rs749698218)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27056716C>T"	""	"likely pathogenic"	""
"0000847223"	"3"	"70"	"2"	"27281371"	"27281371"	"subst"	"0.00000406058"	"00000"	"AGBL5_000054"	"g.27281371G>A"	""	"{PMID:Astuti 2016:27842159}"	""	"AGBL5 c.1775G>A: p.(Trp592*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27058503G>A"	""	"likely pathogenic"	""
"0000847224"	"3"	"70"	"2"	"27276377"	"27276377"	"subst"	"0"	"00000"	"AGBL5_000051"	"g.27276377C>G"	""	"{PMID:Astuti 2016:27842159}"	""	"AGBL5 c.[323C>G;c.2659T>C]: p.[(Pro108Arg);(*887Argext*1)]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27053509C>G"	""	"likely pathogenic"	""
"0000847225"	"3"	"70"	"2"	"27276377"	"27276377"	"subst"	"0"	"00000"	"AGBL5_000051"	"g.27276377C>G"	""	"{PMID:Astuti 2016:27842159}"	""	"AGBL5 c.[323C>G;c.2659T>C]: p.[(Pro108Arg);(*887Argext*1)]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27053509C>G"	""	"likely pathogenic"	""
"0000847226"	"3"	"70"	"2"	"27277965"	"27277965"	"subst"	"0"	"00000"	"AGBL5_000048"	"g.27277965T>G"	""	"{PMID:Astuti 2016:27842159}"	""	"AGBL5 c.841C>T c.752T>G: p.(Val251Gly)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27055097T>G"	""	"likely pathogenic"	""
"0000847227"	"3"	"70"	"2"	"27293129"	"27293129"	"subst"	"0"	"00000"	"AGBL5_000055"	"g.27293129T>C"	""	"{PMID:Astuti 2016:27842159}"	""	"AGBL5 c.[323C>G;c.2659T>C]: p.[(Pro108Arg);(*887Argext*1)]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27070261T>C"	""	"likely pathogenic"	""
"0000847228"	"3"	"70"	"2"	"27293129"	"27293129"	"subst"	"0"	"00000"	"AGBL5_000055"	"g.27293129T>C"	""	"{PMID:Astuti 2016:27842159}"	""	"AGBL5 c.[323C>G;c.2659T>C]: p.[(Pro108Arg);(*887Argext*1)]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27070261T>C"	""	"likely pathogenic"	""
"0000847229"	"3"	"70"	"2"	"27279629"	"27279629"	"dup"	"0"	"00000"	"AGBL5_000049"	"g.27279629dup"	""	"{PMID:Astuti 2016:27842159}"	""	"AGBL5 c.1504dupG: p.(Ala502Glyfs*15)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.27056761dup"	""	"likely pathogenic"	""
"0000849840"	"0"	"30"	"2"	"27276052"	"27276052"	"subst"	"0.0000140008"	"02330"	"AGBL5_000056"	"g.27276052C>T"	""	""	""	"AGBL5(NM_021831.6):c.215+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858472"	"0"	"30"	"2"	"27276061"	"27276061"	"subst"	"0.00255893"	"02330"	"AGBL5_000057"	"g.27276061G>A"	""	""	""	"AGBL5(NM_021831.6):c.215+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858473"	"0"	"30"	"2"	"27276904"	"27276904"	"subst"	"0.0000773578"	"01943"	"AGBL5_000058"	"g.27276904G>A"	""	""	""	"AGBL5(NM_021831.5):c.528G>A (p.P176=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858474"	"0"	"30"	"2"	"27290393"	"27290393"	"subst"	"0"	"02330"	"AGBL5_000059"	"g.27290393G>A"	""	""	""	"AGBL5(NM_021831.6):c.2121G>A (p.Q707=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858475"	"0"	"50"	"2"	"27292520"	"27292520"	"subst"	"0.0000162856"	"01943"	"AGBL5_000060"	"g.27292520C>T"	""	""	""	"AGBL5(NM_021831.5):c.2435C>T (p.P812L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000885108"	"0"	"50"	"2"	"27278055"	"27278055"	"subst"	"0.0000121822"	"02327"	"AGBL5_000061"	"g.27278055G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000905970"	"0"	"50"	"2"	"27292970"	"27292970"	"subst"	"0"	"00000"	"AGBL5_000062"	"g.27292970G>T"	""	"{PMID:Zhu 2022:35456422}"	""	"AGBL5 c.2500G>T, p.(Ala834Ser)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.27070102G>T"	""	"VUS"	"ACMG"


## 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 AGBL5
## Count = 72
"{{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}}"
"0000348445"	"00002225"	"50"	"1265"	"0"	"1265"	"0"	"c.1265C>G"	"r.(?)"	"p.(Pro422Arg)"	""
"0000351085"	"00002225"	"70"	"388"	"-2"	"388"	"-2"	"c.388-2A>G"	"r.spl?"	"p.?"	""
"0000475997"	"00002225"	"50"	"-3"	"0"	"-3"	"0"	"c.-3A>G"	"r.(=)"	"p.(=)"	""
"0000475998"	"00002225"	"50"	"93"	"0"	"93"	"0"	"c.93T>A"	"r.(?)"	"p.(Asp31Glu)"	""
"0000475999"	"00002225"	"50"	"194"	"0"	"194"	"0"	"c.194C>T"	"r.(?)"	"p.(Thr65Met)"	""
"0000476000"	"00002225"	"50"	"215"	"4"	"215"	"4"	"c.215+4T>C"	"r.spl?"	"p.?"	""
"0000476001"	"00002225"	"50"	"430"	"0"	"430"	"0"	"c.430G>A"	"r.(?)"	"p.(Val144Met)"	""
"0000476002"	"00002225"	"50"	"520"	"0"	"520"	"0"	"c.520C>T"	"r.(?)"	"p.(Arg174Cys)"	""
"0000476003"	"00002225"	"50"	"650"	"0"	"650"	"0"	"c.650G>A"	"r.(?)"	"p.(Arg217Gln)"	""
"0000476004"	"00002225"	"50"	"678"	"0"	"678"	"0"	"c.678G>C"	"r.(?)"	"p.(Gln226His)"	""
"0000476005"	"00002225"	"50"	"875"	"0"	"875"	"0"	"c.875T>C"	"r.(?)"	"p.(Leu292Ser)"	""
"0000476006"	"00002225"	"50"	"961"	"0"	"961"	"0"	"c.961G>A"	"r.(?)"	"p.(Val321Ile)"	""
"0000476007"	"00002225"	"50"	"969"	"0"	"969"	"0"	"c.969C>A"	"r.(?)"	"p.(His323Gln)"	""
"0000476008"	"00002225"	"50"	"1022"	"0"	"1022"	"0"	"c.1022G>A"	"r.(?)"	"p.(Arg341His)"	""
"0000476009"	"00002225"	"50"	"1047"	"0"	"1047"	"0"	"c.1047G>C"	"r.(?)"	"p.(Glu349Asp)"	""
"0000476010"	"00002225"	"50"	"1229"	"0"	"1229"	"0"	"c.1229C>T"	"r.(?)"	"p.(Ala410Val)"	""
"0000476011"	"00002225"	"50"	"1265"	"0"	"1265"	"0"	"c.1265C>G"	"r.(?)"	"p.(Pro422Arg)"	""
"0000476012"	"00002225"	"50"	"1460"	"0"	"1460"	"0"	"c.1460G>A"	"r.(?)"	"p.(Arg487Gln)"	""
"0000476013"	"00002225"	"50"	"1511"	"0"	"1511"	"0"	"c.1511A>G"	"r.(?)"	"p.(Tyr504Cys)"	""
"0000476014"	"00002225"	"50"	"1610"	"0"	"1610"	"0"	"c.1610G>A"	"r.(?)"	"p.(Arg537His)"	""
"0000476015"	"00002225"	"50"	"1618"	"0"	"1618"	"0"	"c.1618C>T"	"r.(?)"	"p.(Pro540Ser)"	""
"0000476016"	"00002225"	"50"	"1628"	"0"	"1628"	"0"	"c.1628C>T"	"r.(?)"	"p.(Pro543Leu)"	""
"0000476017"	"00002225"	"50"	"1960"	"0"	"1962"	"0"	"c.1960_1962del"	"r.(?)"	"p.(Ser654del)"	""
"0000476018"	"00002225"	"50"	"2090"	"-3"	"2090"	"-3"	"c.2090-3dup"	"r.spl?"	"p.?"	""
"0000476019"	"00002225"	"50"	"2138"	"0"	"2138"	"0"	"c.2138G>A"	"r.(?)"	"p.(Arg713His)"	""
"0000476020"	"00002225"	"50"	"2243"	"-4"	"2243"	"-4"	"c.2243-4C>T"	"r.spl?"	"p.?"	""
"0000476021"	"00002225"	"50"	"2374"	"0"	"2374"	"0"	"c.2374C>T"	"r.(?)"	"p.(Arg792Trp)"	""
"0000476022"	"00002225"	"50"	"2438"	"0"	"2438"	"0"	"c.2438G>A"	"r.(?)"	"p.(Arg813Gln)"	""
"0000476023"	"00002225"	"50"	"2567"	"0"	"2567"	"0"	"c.2567C>T"	"r.(?)"	"p.(Pro856Leu)"	""
"0000476024"	"00002225"	"50"	"2627"	"0"	"2627"	"0"	"c.2627A>T"	"r.(?)"	"p.(Lys876Ile)"	""
"0000476025"	"00002225"	"50"	"2654"	"0"	"2654"	"0"	"c.2654G>A"	"r.(?)"	"p.(Arg885Gln)"	""
"0000515515"	"00002225"	"50"	"78"	"0"	"78"	"0"	"c.78A>C"	"r.(?)"	"p.(Glu26Asp)"	""
"0000515516"	"00002225"	"50"	"239"	"0"	"239"	"0"	"c.239G>A"	"r.(?)"	"p.(Arg80Gln)"	""
"0000515517"	"00002225"	"30"	"399"	"0"	"399"	"0"	"c.399G>A"	"r.(?)"	"p.(Thr133=)"	""
"0000515518"	"00002225"	"30"	"1981"	"0"	"1981"	"0"	"c.1981A>G"	"r.(?)"	"p.(Met661Val)"	""
"0000515519"	"00002225"	"30"	"2556"	"0"	"2556"	"0"	"c.2556A>G"	"r.(?)"	"p.(Leu852=)"	""
"0000607880"	"00002225"	"30"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Val695Ile)"	""
"0000607881"	"00002225"	"30"	"2090"	"-7"	"2090"	"-7"	"c.2090-7del"	"r.(=)"	"p.(=)"	""
"0000631998"	"00002225"	"90"	"883"	"0"	"883"	"0"	"c.883G>A"	"r.(?)"	"p.(Asp295Asn)"	""
"0000654613"	"00002225"	"30"	"48"	"0"	"48"	"0"	"c.48A>G"	"r.(?)"	"p.(Ser16=)"	""
"0000676605"	"00002225"	"30"	"1722"	"0"	"1722"	"0"	"c.1722G>A"	"r.(?)"	"p.(Pro574=)"	""
"0000684993"	"00002225"	"90"	"1787"	"0"	"1788"	"0"	"c.1787_1788del"	"r.(?)"	"p.(His596Argfs*47)"	""
"0000718717"	"00002225"	"30"	"63"	"0"	"63"	"0"	"c.63C>T"	"r.(?)"	"p.(His21=)"	""
"0000718718"	"00002225"	"30"	"1678"	"0"	"1678"	"0"	"c.1678C>A"	"r.(?)"	"p.(Arg560=)"	""
"0000765935"	"00002225"	"70"	"826"	"0"	"826"	"0"	"c.826C>T"	"r.(?)"	"p.(Arg276Trp)"	""
"0000800553"	"00002225"	"50"	"1265"	"0"	"1265"	"0"	"c.1265C>G"	"r.(?)"	"p.(Pro422Arg)"	""
"0000811390"	"00002225"	"70"	"1255"	"0"	"1255"	"0"	"c.1255dup"	"r.(?)"	"p.(Thr419Asnfs*32)"	""
"0000811974"	"00002225"	"70"	"1787"	"0"	"1788"	"0"	"c.1787_1788del"	"r.(?)"	"p.(His596Argfs*47)"	""
"0000817311"	"00002225"	"70"	"1406"	"0"	"1406"	"0"	"c.1406C>G"	"r.(?)"	"p.(Ser469*)"	"8"
"0000817330"	"00002225"	"50"	"1498"	"0"	"1498"	"0"	"c.1498C>T"	"r.(?)"	"p.(Arg500Cys)"	"8"
"0000821150"	"00002225"	"70"	"1504"	"0"	"1504"	"0"	"c.1504dup"	"r.(?)"	"p.(Ala502Glyfs*15)"	""
"0000821521"	"00002225"	"70"	"752"	"0"	"752"	"0"	"c.752T>G"	"r.(?)"	"p.(Val251Gly)"	""
"0000822947"	"00002225"	"70"	"313"	"0"	"319"	"0"	"c.313_319del"	"r.(?)"	"p.(Gly105Profs*24)"	""
"0000824265"	"00002225"	"90"	"323"	"0"	"323"	"0"	"c.323C>G"	"r.(?)"	"p.(Pro108Arg)"	""
"0000847219"	"00002225"	"70"	"841"	"0"	"841"	"0"	"c.841C>T"	"r.(?)"	"p.(Arg281Cys)"	"6"
"0000847220"	"00002225"	"70"	"841"	"0"	"841"	"0"	"c.841C>T"	"r.(?)"	"p.(Arg281Cys)"	"6"
"0000847221"	"00002225"	"70"	"1459"	"0"	"1459"	"0"	"c.1459C>T"	"r.(?)"	"p.(Arg487*)"	""
"0000847222"	"00002225"	"70"	"1459"	"0"	"1459"	"0"	"c.1459C>T"	"r.(?)"	"p.(Arg487*)"	""
"0000847223"	"00002225"	"70"	"1775"	"0"	"1775"	"0"	"c.1775G>A"	"r.(?)"	"p.(Trp592*)"	""
"0000847224"	"00002225"	"70"	"323"	"0"	"323"	"0"	"c.323C>G"	"r.(?)"	"p.(Pro108Arg)"	""
"0000847225"	"00002225"	"70"	"323"	"0"	"323"	"0"	"c.323C>G"	"r.(?)"	"p.(Pro108Arg)"	""
"0000847226"	"00002225"	"70"	"752"	"0"	"752"	"0"	"c.752T>G"	"r.(?)"	"p.(Val251Gly)"	""
"0000847227"	"00002225"	"70"	"2659"	"0"	"2659"	"0"	"c.2659T>C"	"r.(?)"	"p.(*887Argext*1)"	""
"0000847228"	"00002225"	"70"	"2659"	"0"	"2659"	"0"	"c.2659T>C"	"r.(?)"	"p.(*887Argext*1)"	""
"0000847229"	"00002225"	"70"	"1504"	"0"	"1504"	"0"	"c.1504dupG"	"r.(?)"	"p.(Ala502Glyfs*15)"	""
"0000849840"	"00002225"	"30"	"215"	"11"	"215"	"11"	"c.215+11C>T"	"r.(=)"	"p.(=)"	""
"0000858472"	"00002225"	"30"	"215"	"20"	"215"	"20"	"c.215+20G>A"	"r.(=)"	"p.(=)"	""
"0000858473"	"00002225"	"30"	"528"	"0"	"528"	"0"	"c.528G>A"	"r.(?)"	"p.(Pro176=)"	""
"0000858474"	"00002225"	"30"	"2121"	"0"	"2121"	"0"	"c.2121G>A"	"r.(?)"	"p.(Gln707=)"	""
"0000858475"	"00002225"	"50"	"2435"	"0"	"2435"	"0"	"c.2435C>T"	"r.(?)"	"p.(Pro812Leu)"	""
"0000885108"	"00002225"	"50"	"842"	"0"	"842"	"0"	"c.842G>A"	"r.(?)"	"p.(Arg281His)"	""
"0000905970"	"00002225"	"50"	"2500"	"0"	"2500"	"0"	"c.2500G>T"	"r.(?)"	"p.(Ala834Ser)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 52
"{{screeningid}}"	"{{variantid}}"
"0000233289"	"0000475997"
"0000233290"	"0000475998"
"0000233291"	"0000475999"
"0000233292"	"0000476000"
"0000233293"	"0000476001"
"0000233294"	"0000476002"
"0000233295"	"0000476003"
"0000233296"	"0000476004"
"0000233297"	"0000476005"
"0000233298"	"0000476006"
"0000233299"	"0000476007"
"0000233300"	"0000476008"
"0000233301"	"0000476009"
"0000233302"	"0000476010"
"0000233303"	"0000476011"
"0000233304"	"0000476012"
"0000233305"	"0000476013"
"0000233306"	"0000476014"
"0000233307"	"0000476015"
"0000233308"	"0000476016"
"0000233309"	"0000476017"
"0000233310"	"0000476018"
"0000233311"	"0000476019"
"0000233312"	"0000476020"
"0000233313"	"0000476021"
"0000233314"	"0000476022"
"0000233315"	"0000476023"
"0000233316"	"0000476024"
"0000233317"	"0000476025"
"0000277231"	"0000631998"
"0000310082"	"0000684993"
"0000364985"	"0000765935"
"0000384632"	"0000811390"
"0000385097"	"0000811974"
"0000388613"	"0000817311"
"0000388613"	"0000817330"
"0000391401"	"0000821150"
"0000391401"	"0000821521"
"0000392604"	"0000822947"
"0000393503"	"0000824265"
"0000409989"	"0000847219"
"0000409989"	"0000847221"
"0000409990"	"0000847220"
"0000409990"	"0000847222"
"0000409991"	"0000847223"
"0000409992"	"0000847224"
"0000409992"	"0000847227"
"0000409993"	"0000847225"
"0000409993"	"0000847228"
"0000409994"	"0000847226"
"0000409994"	"0000847229"
"0000428264"	"0000905970"